{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8N6I4","secondaryAccessions":["J3KQ65","Q9Y4S5"],"uniProtkbId":"LYSET_HUMAN","entryAudit":{"firstPublicDate":"2005-07-19","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-01-20","entryVersion":149,"sequenceVersion":4},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"36074821"}],"value":"Lysosomal enzyme trafficking factor"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"36096887"}],"value":"GNPTAB cleavage and activity factor"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"36096887"}],"value":"GCAF"}]},{"fullName":{"value":"Transmembrane protein 251"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:20218"}],"value":"LYSET"},"synonyms":[{"value":"C14orf109"},{"value":"TMEM251"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074822"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36096887"}],"value":"Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET bridges GlcNAc-1-phosphate transferase (GNPTAB), to the membrane-bound transcription factor site-1 protease (MBTPS1), thus allowing proteolytic activation of the GNPTAB. GNPTAB is involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET is thus an essential factor for maturation and delivery of lysosomal hydrolases (PubMed:36074822)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"}],"value":"(Microbial infection) Essential for infection by muliple viruses, including SARS-CoV-2, that utilize activated cathepsins for entry after M6P-dependent lysosomal transport"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36096887"}],"value":"Interacts with GNPTAB; this interaction is important for proper localization of GNPTAB in Golgi stacks (PubMed:36074821, PubMed:36096887). Interacts with MBTPS1 (PubMed:36096887)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"}],"value":"Colocalizes with GNPTAB and GNPTG in Golgi apparatus cisternae"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33252156"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36096887"}],"value":"Golgi apparatus membrane","id":"SL-0134"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q8N6I4-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q8N6I4-2"],"sequenceIds":["VSP_036175"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q8N6I4-3"],"sequenceIds":["VSP_045689"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Dysostosis multiplex, Ain-Naz type","diseaseAccession":"DI-06118","acronym":"DMAN","description":"An autosomal recessive, severe skeletal disease characterized by features of dysostosis multiplex, severe short stature, coarse facies with broad nose and prominent lips, protruding abdomens, and progressive skeletal changes causing gradual mobility loss. Death in childhood or early adulthood may occur.","diseaseCrossReference":{"database":"MIM","id":"619345"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33252156"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074822"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the LYSET family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAH30119.2","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":163,"modifier":"EXACT"}},"description":"Lysosomal enzyme trafficking factor","featureId":"PRO_0000089916"},{"type":"Transmembrane","location":{"start":{"value":40,"modifier":"EXACT"},"end":{"value":60,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":98,"modifier":"EXACT"},"end":{"value":118,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_036175","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_045689","alternativeSequence":{"originalSequence":"M","alternativeSequences":["MLAFSEM"]}},{"type":"Natural variant","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"in DMAN; lower protein expression. Fails to rescue the lysosomal trafficking defect in LYSET-deficient cells. Severe reduction of interaction with GNPTAB; dbSNP:rs2140085425","featureCrossReferences":[{"database":"dbSNP","id":"rs2140085425"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33252156"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074822"}],"featureId":"VAR_085583","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":66,"modifier":"EXACT"},"end":{"value":163,"modifier":"EXACT"}},"description":"in DMAN; no protein expression. Fails to rescue the lysosomal trafficking defect in LYSET-deficient cells","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33252156"}],"featureId":"VAR_087348","alternativeSequence":{}},{"type":"Mutagenesis","location":{"start":{"value":86,"modifier":"EXACT"},"end":{"value":86,"modifier":"EXACT"}},"description":"Rescues the lysosomal trafficking defect in LYSET-deficient cells.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["I"]}},{"type":"Mutagenesis","location":{"start":{"value":136,"modifier":"EXACT"},"end":{"value":136,"modifier":"EXACT"}},"description":"Rescues the lysosomal trafficking defect in LYSET-deficient cells.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"}],"alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Mutagenesis","location":{"start":{"value":150,"modifier":"EXACT"},"end":{"value":150,"modifier":"EXACT"}},"description":"Rescues the lysosomal trafficking defect in LYSET-deficient cells.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["N"]}},{"type":"Sequence conflict","location":{"start":{"value":152,"modifier":"EXACT"},"end":{"value":153,"modifier":"EXACT"}},"description":"in Ref. 4; BM554490","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"SN","alternativeSequences":["FY"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0242","category":"Disease","name":"Dwarfism"},{"id":"KW-0333","category":"Cellular component","name":"Golgi apparatus"},{"id":"KW-0945","category":"Biological process","name":"Host-virus interaction"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Embryonic brain","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"12508121","citationType":"journal article","authors":["Heilig R.","Eckenberg R.","Petit J.-L.","Fonknechten N.","Da Silva C.","Cattolico L.","Levy M.","Barbe V.","De Berardinis V.","Ureta-Vidal A.","Pelletier E.","Vico V.","Anthouard V.","Rowen L.","Madan A.","Qin S.","Sun H.","Du H.","Pepin K.","Artiguenave F.","Robert C.","Cruaud C.","Bruels T.","Jaillon O.","Friedlander L.","Samson G.","Brottier P.","Cure S.","Segurens B.","Aniere F.","Samain S.","Crespeau H.","Abbasi N.","Aiach N.","Boscus D.","Dickhoff R.","Dors M.","Dubois I.","Friedman C.","Gouyvenoux M.","James R.","Madan A.","Mairey-Estrada B.","Mangenot S.","Martins N.","Menard M.","Oztas S.","Ratcliffe A.","Shaffer T.","Trask B.","Vacherie B.","Bellemere C.","Belser C.","Besnard-Gonnet M.","Bartol-Mavel D.","Boutard M.","Briez-Silla S.","Combette S.","Dufosse-Laurent V.","Ferron C.","Lechaplais C.","Louesse C.","Muselet D.","Magdelenat G.","Pateau E.","Petit E.","Sirvain-Trukniewicz P.","Trybou A.","Vega-Czarny N.","Bataille E.","Bluet E.","Bordelais I.","Dubois M.","Dumont C.","Guerin T.","Haffray S.","Hammadi R.","Muanga J.","Pellouin V.","Robert D.","Wunderle E.","Gauguet G.","Roy A.","Sainte-Marthe L.","Verdier J.","Verdier-Discala C.","Hillier L.W.","Fulton L.","McPherson J.","Matsuda F.","Wilson R.","Scarpelli C.","Gyapay G.","Wincker P.","Saurin W.","Quetier F.","Waterston R.","Hood L.","Weissenbach J."],"citationCrossReferences":[{"database":"PubMed","id":"12508121"},{"database":"DOI","id":"10.1038/nature01348"}],"title":"The DNA sequence and analysis of human chromosome 14.","publicationDate":"2003","journal":"Nature","firstPage":"601","lastPage":"607","volume":"421"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"CI-56FT96O07V0QG","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3)","NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-149 (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"},{"value":"Melanoma","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"33252156","citationType":"journal article","authors":["Ain N.U.","Muhammad N.","Dianatpour M.","Baroncelli M.","Iqbal M.","Fard M.A.F.","Bukhari I.","Ahmed S.","Hajipour M.","Tabatabaie Z.","Foroutan H.","Nilsson O.","Faghihi M.A.","Makitie O.","Naz S."],"citationCrossReferences":[{"database":"PubMed","id":"33252156"},{"database":"DOI","id":"10.1002/humu.24139"}],"title":"Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.","publicationDate":"2021","journal":"Hum. Mutat.","firstPage":"89","lastPage":"101","volume":"42"},"referencePositions":["SUBCELLULAR LOCATION","INVOLVEMENT IN DMAN","VARIANTS DMAN TRP-39 AND 66-TYR--THR-163 DEL"]},{"referenceNumber":6,"citation":{"id":"36074822","citationType":"journal article","authors":["Pechincha C.","Groessl S.","Kalis R.","de Almeida M.","Zanotti A.","Wittmann M.","Schneider M.","de Campos R.P.","Rieser S.","Brandstetter M.","Schleiffer A.","Mueller-Decker K.","Helm D.","Jabs S.","Haselbach D.","Lemberg M.K.","Zuber J.","Palm W."],"citationCrossReferences":[{"database":"PubMed","id":"36074822"},{"database":"DOI","id":"10.1126/science.abn5637"}],"title":"Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.","publicationDate":"2022","journal":"Science","firstPage":"eabn5637","lastPage":"eabn5637","volume":"2022"},"referencePositions":["FUNCTION","INTERACTION WITH GNPTAB","CHARACTERIZATION OF VARIANTS DMAN TRP-39 AND 66-TYR--THR-163 DEL"]},{"referenceNumber":7,"citation":{"id":"36074821","citationType":"journal article","authors":["Richards C.M.","Jabs S.","Qiao W.","Varanese L.D.","Schweizer M.","Mosen P.R.","Riley N.M.","Kluessendorf M.","Zengel J.R.","Flynn R.A.","Rustagi A.","Widen J.C.","Peters C.E.","Ooi Y.S.","Xie X.","Shi P.Y.","Bartenschlager R.","Puschnik A.S.","Bogyo M.","Bertozzi C.R.","Blish C.A.","Winter D.","Nagamine C.M.","Braulke T.","Carette J.E."],"citationCrossReferences":[{"database":"PubMed","id":"36074821"},{"database":"DOI","id":"10.1126/science.abn5648"}],"title":"The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.","publicationDate":"2022","journal":"Science","firstPage":"eabn5648","lastPage":"eabn5648","volume":"2022"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","INTERACTION WITH GNPTAB","CHARACTERIZATION OF VARIANT DMAN TRP-39","MUTAGENESIS OF THR-86; ILE-136 AND LYS-150","FUNCTION (MICROBIAL INFECTION)"]},{"referenceNumber":8,"citation":{"id":"36096887","citationType":"journal article","authors":["Zhang W.","Yang X.","Li Y.","Yu L.","Zhang B.","Zhang J.","Cho W.J.","Venkatarangan V.","Chen L.","Burugula B.B.","Bui S.","Wang Y.","Duan C.","Kitzman J.O.","Li M."],"citationCrossReferences":[{"database":"PubMed","id":"36096887"},{"database":"DOI","id":"10.1038/s41467-022-33025-1"}],"title":"GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.","publicationDate":"2022","journal":"Nat. Commun.","firstPage":"5351","lastPage":"5351","volume":"13"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","INTERACTION WITH GNPTAB AND MBTPS1"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL080118","properties":[{"key":"ProteinId","value":"CAB45717.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL110118","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471061","properties":[{"key":"ProteinId","value":"EAW81518.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC030119","properties":[{"key":"ProteinId","value":"AAH30119.2"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BM554490","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CX785861","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS41980.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8N6I4-2"},{"database":"CCDS","id":"CCDS45158.2","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8N6I4-1"},{"database":"PIR","id":"T12454","properties":[{"key":"EntryName","value":"T12454"}]},{"database":"RefSeq","id":"NP_001092091.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001098621.4"}],"isoformId":"Q8N6I4-1"},{"database":"RefSeq","id":"NP_056491.1","properties":[{"key":"NucleotideSequenceId","value":"NM_015676.3"}],"isoformId":"Q8N6I4-2"},{"database":"AlphaFoldDB","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"117597","properties":[{"key":"Interactions","value":"5"}]},{"database":"FunCoup","id":"Q8N6I4","properties":[{"key":"Number of interactors","value":"524"}]},{"database":"IntAct","id":"Q8N6I4","properties":[{"key":"Interactions","value":"1"}]},{"database":"STRING","id":"9606.ENSP00000388431","properties":[{"key":"Description","value":"-"}]},{"database":"TCDB","id":"8.A.208.1.1","properties":[{"key":"FamilyName","value":"the lysosomal enzyme trafficking factor (lyset) family"}]},{"database":"SwissPalm","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"TMEM251","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"221222535","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000388431","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"72180","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8N6I4-1"},{"database":"ProteomicsDB","id":"72181","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8N6I4-2"},{"database":"Antibodypedia","id":"64066","properties":[{"key":"antibodies","value":"5 antibodies from 5 providers"}]},{"database":"DNASU","id":"26175","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000283534.4","properties":[{"key":"ProteinId","value":"ENSP00000283534.4"},{"key":"GeneId","value":"ENSG00000153485.7"}],"isoformId":"Q8N6I4-2"},{"database":"Ensembl","id":"ENST00000415050.3","properties":[{"key":"ProteinId","value":"ENSP00000388431.3"},{"key":"GeneId","value":"ENSG00000153485.7"}],"isoformId":"Q8N6I4-1"},{"database":"Ensembl","id":"ENST00000622205.2","properties":[{"key":"ProteinId","value":"ENSP00000478917.1"},{"key":"GeneId","value":"ENSG00000275947.2"}],"isoformId":"Q8N6I4-3"},{"database":"Ensembl","id":"ENST00000626767.1","properties":[{"key":"ProteinId","value":"ENSP00000486678.1"},{"key":"GeneId","value":"ENSG00000275947.2"}],"isoformId":"Q8N6I4-2"},{"database":"Ensembl","id":"ENST00000857222.1","properties":[{"key":"ProteinId","value":"ENSP00000527281.1"},{"key":"GeneId","value":"ENSG00000153485.7"}],"isoformId":"Q8N6I4-1"},{"database":"Ensembl","id":"ENST00000928792.1","properties":[{"key":"ProteinId","value":"ENSP00000598851.1"},{"key":"GeneId","value":"ENSG00000153485.7"}],"isoformId":"Q8N6I4-1"},{"database":"Ensembl","id":"ENST00000928793.1","properties":[{"key":"ProteinId","value":"ENSP00000598852.1"},{"key":"GeneId","value":"ENSG00000153485.7"}],"isoformId":"Q8N6I4-1"},{"database":"Ensembl","id":"ENST00000928794.1","properties":[{"key":"ProteinId","value":"ENSP00000598853.1"},{"key":"GeneId","value":"ENSG00000153485.7"}],"isoformId":"Q8N6I4-1"},{"database":"GeneID","id":"26175","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:26175","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000415050.3","properties":[{"key":"ProteinId","value":"ENSP00000388431.3"},{"key":"RefSeqNucleotideId","value":"NM_001098621.4"},{"key":"RefSeqProteinId","value":"NP_001092091.2"}]},{"database":"UCSC","id":"uc001ybk.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q8N6I4-1"},{"database":"AGR","id":"HGNC:20218","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134977710","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"26175","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"26175","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"LYSET","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:20218","properties":[{"key":"GeneName","value":"LYSET"}]},{"database":"HPA","id":"ENSG00000153485","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"LYSET","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"619332","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"619345","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000153485","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000153485","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502RY2J","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000007473","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_133007_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AYYIFEV","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6273523at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q8N6I4","properties":[{"key":"Number of GO annotations","value":"0 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000153485","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"26175","properties":[{"key":"hits","value":"29 hits in 1166 CRISPR screens"}]},{"database":"GenomeRNAi","id":"26175","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q8N6I4","properties":[{"key":"DevelopmentLevel","value":"Tdark"}]},{"database":"PRO","id":"PR:Q8N6I4","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 14"}]},{"database":"RNAct","id":"Q8N6I4","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000153485","properties":[{"key":"ExpressionPatterns","value":"Expressed in islet of Langerhans and 101 other cell types or tissues"}]},{"database":"GO","id":"GO:0005794","properties":[{"key":"GoTerm","value":"C:Golgi apparatus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"33252156"}]},{"database":"GO","id":"GO:0031985","properties":[{"key":"GoTerm","value":"C:Golgi cisterna"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"36074821"}]},{"database":"GO","id":"GO:0000139","properties":[{"key":"GoTerm","value":"C:Golgi membrane"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33252156"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36096887"}]},{"database":"GO","id":"GO:0007041","properties":[{"key":"GoTerm","value":"P:lysosomal transport"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"36074821"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"36074822"}]},{"database":"GO","id":"GO:0007040","properties":[{"key":"GoTerm","value":"P:lysosome organization"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"36096887"}]},{"database":"GO","id":"GO:0060627","properties":[{"key":"GoTerm","value":"P:regulation of vesicle-mediated transport"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"36074822"}]},{"database":"InterPro","id":"IPR028024","properties":[{"key":"EntryName","value":"LYSET"}]},{"database":"PANTHER","id":"PTHR31925:SF1","properties":[{"key":"EntryName","value":"LYSOSOMAL ENZYME TRAFFICKING FACTOR"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR31925","properties":[{"key":"EntryName","value":"TRANSMEMBRANE PROTEIN 251"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF15190","properties":[{"key":"EntryName","value":"TMEM251"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MPKPPDYSELSDSLTLAVGTGRFSGPLHRAWRMMNFRQRMGWIGVGLYLLASAAAFYYVFEISETYNRLALEHIQQHPEEPLEGTTWTHSLKAQLLSLPFWVWTVIFLVPYLQMFLFLYSCTRADPKTVGYCIIPICLAVICNRHQAFVKASNQISRLQLIDT","length":163,"molWeight":18747,"crc64":"805D11CD73B20650","md5":"45207E0F03B6540B129500451C9060BA"},"extraAttributes":{"countByCommentType":{"FUNCTION":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"DISEASE":1,"SIMILARITY":1,"SEQUENCE CAUTION":1},"countByFeatureType":{"Chain":1,"Transmembrane":2,"Alternative sequence":2,"Natural variant":2,"Mutagenesis":3,"Sequence conflict":1},"uniParcId":"UPI0001884442"}}