ID CASP_HUMAN Reviewed; 678 AA. AC Q13948; B3KWH3; B3KWH8; B4DZZ2; G3V1Z6; J3KPQ6; Q53GU9; Q8TBS3; DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot. DT 10-JAN-2006, sequence version 2. DT 07-OCT-2020, entry version 141. DE RecName: Full=Protein CASP; GN Name=CUX1; Synonyms=CUTL1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Umbilical vein; RX PubMed=9332351; DOI=10.1016/s0378-1119(97)00243-6; RA Lievens P.M.-J., Tufarelli C., Donady J.J., Stagg A., Neufeld E.J.; RT "CASP, a novel, highly conserved alternative-splicing product of the RT CDP/cut/cux gene, lacks cut-repeat and homeo DNA-binding domains, and RT interacts with full-length CDP in vitro."; RL Gene 197:73-81(1997). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 9 AND 10), AND VARIANT RP THR-464. RC TISSUE=Thalamus, Thymus, and Tongue; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-464. RC TISSUE=Liver; RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., RA Tanaka A., Yokoyama S.; RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H., RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., RA Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT VAL-545. RC TISSUE=Colon; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP ALTERNATIVE SPLICING. RX PubMed=10607901; DOI=10.1016/s0378-1119(99)00465-5; RA Rong Zeng W., Soucie E., Sung Moon N., Martin-Soudant N., Berube G., RA Leduy L., Nepveu A.; RT "Exon/intron structure and alternative transcripts of the CUTL1 gene."; RL Gene 241:75-85(2000). RN [8] RP SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, SUBUNIT, AND MUTAGENESIS OF RP TYR-624 AND HIS-629. RX PubMed=12429822; DOI=10.1091/mbc.e02-06-0349; RA Gillingham A.K., Pfeifer A.C., Munro S.; RT "CASP, the alternatively spliced product of the gene encoding the CCAAT- RT displacement protein transcription factor, is a Golgi membrane protein RT related to giantin."; RL Mol. Biol. Cell 13:3761-3774(2002). RN [9] RP FUNCTION, AND INTERACTION WITH GOLGA5. RX PubMed=15718469; DOI=10.1126/science.1108061; RA Malsam J., Satoh A., Pelletier L., Warren G.; RT "Golgin tethers define subpopulations of COPI vesicles."; RL Science 307:1095-1098(2005). RN [10] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Embryonic kidney; RX PubMed=17525332; DOI=10.1126/science.1140321; RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., RA Gygi S.P., Elledge S.J.; RT "ATM and ATR substrate analysis reveals extensive protein networks RT responsive to DNA damage."; RL Science 316:1160-1166(2007). RN [11] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., RA Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [12] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-586, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). RN [13] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=25944712; DOI=10.1002/pmic.201400617; RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D., RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.; RT "N-terminome analysis of the human mitochondrial proteome."; RL Proteomics 15:2519-2524(2015). RN [14] RP VARIANTS [LARGE SCALE ANALYSIS] GLY-490 AND CYS-609. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: May be involved in intra-Golgi retrograde transport. CC {ECO:0000269|PubMed:15718469}. CC -!- SUBUNIT: Homodimer; disulfide-linked. Interacts with GOLGA5. CC {ECO:0000269|PubMed:12429822, ECO:0000269|PubMed:15718469}. CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane CC {ECO:0000269|PubMed:12429822}; Single-pass type IV membrane protein CC {ECO:0000269|PubMed:12429822}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=11; CC Comment=Additional isoforms seem to exist.; CC Name=4; Synonyms=CASP; CC IsoId=Q13948-1; Sequence=Displayed; CC Name=11; CC IsoId=P39880-9; Sequence=External; CC Name=1; CC IsoId=P39880-1; Sequence=External; CC Name=2; CC IsoId=P39880-2; Sequence=External; CC Name=3; CC IsoId=P39880-3; Sequence=External; CC Name=5; CC IsoId=P39880-4; Sequence=External; CC Name=6; CC IsoId=P39880-5; Sequence=External; CC Name=7; CC IsoId=P39880-6; Sequence=External; CC Name=8; CC IsoId=Q13948-2; Sequence=VSP_040094; CC Name=9; CC IsoId=Q13948-9; Sequence=VSP_045593, VSP_040094; CC Name=10; CC IsoId=Q13948-10; Sequence=VSP_045927; CC -!- SIMILARITY: Belongs to the CASP family. {ECO:0000305}. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and CC Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/CUX1ID403ch7q22.html"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L12579; AAA35654.1; -; mRNA. DR EMBL; AK125076; BAG54135.1; -; mRNA. DR EMBL; AK125097; BAG54140.1; -; mRNA. DR EMBL; AK303151; BAG64254.1; -; mRNA. DR EMBL; AK222832; BAD96552.1; -; mRNA. DR EMBL; AC005072; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC005086; AAP22331.1; -; Genomic_DNA. DR EMBL; AC005088; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC005096; AAS07410.1; -; Genomic_DNA. DR EMBL; AC005103; AAS07388.1; -; Genomic_DNA. DR EMBL; AC092788; AAS07523.1; -; Genomic_DNA. DR EMBL; CH471197; EAW50227.1; -; Genomic_DNA. DR EMBL; BC025422; AAH25422.1; -; mRNA. DR CCDS; CCDS47672.1; -. [Q13948-2] DR CCDS; CCDS56500.1; -. [Q13948-10] DR CCDS; CCDS5720.1; -. [Q13948-1] DR CCDS; CCDS59071.1; -. [Q13948-9] DR RefSeq; NP_001189473.1; NM_001202544.2. [Q13948-10] DR RefSeq; NP_001189474.1; NM_001202545.2. DR RefSeq; NP_001189475.1; NM_001202546.2. [Q13948-9] DR RefSeq; NP_001904.2; NM_001913.4. [Q13948-1] DR RefSeq; NP_852477.1; NM_181500.3. [Q13948-2] DR SMR; Q13948; -. DR BioGRID; 107903; 76. DR IntAct; Q13948; 16. DR MINT; Q13948; -. DR iPTMnet; Q13948; -. DR BioMuta; CUX1; -. DR DMDM; 85681028; -. DR EPD; Q13948; -. DR jPOST; Q13948; -. DR MassIVE; Q13948; -. DR MaxQB; Q13948; -. DR PeptideAtlas; Q13948; -. DR PRIDE; Q13948; -. DR ProteomicsDB; 32483; -. DR ProteomicsDB; 59765; -. [Q13948-1] DR ProteomicsDB; 59766; -. [Q13948-2] DR Antibodypedia; 48390; 392 antibodies. DR DNASU; 1523; -. DR Ensembl; ENST00000292538; ENSP00000292538; ENSG00000257923. [Q13948-1] DR Ensembl; ENST00000393824; ENSP00000377410; ENSG00000257923. [Q13948-9] DR Ensembl; ENST00000437600; ENSP00000414091; ENSG00000257923. [Q13948-2] DR Ensembl; ENST00000547394; ENSP00000449371; ENSG00000257923. [Q13948-10] DR Ensembl; ENST00000622516; ENSP00000484760; ENSG00000257923. [Q13948-1] DR GeneID; 1523; -. DR KEGG; hsa:1523; -. DR UCSC; uc003uyt.4; human. [Q13948-1] DR CTD; 1523; -. DR DisGeNET; 1523; -. DR EuPathDB; HostDB:ENSG00000257923.9; -. DR GeneCards; CUX1; -. DR HGNC; HGNC:2557; CUX1. DR HPA; ENSG00000257923; Low tissue specificity. DR MalaCards; CUX1; -. DR MIM; 116896; gene. DR neXtProt; NX_Q13948; -. DR OpenTargets; ENSG00000257923; -. DR PharmGKB; PA162382924; -. DR GeneTree; ENSGT00940000159751; -. DR KO; K09313; -. DR OrthoDB; 181575at2759; -. DR BioCyc; MetaCyc:ENSG00000170275-MONOMER; -. DR PathwayCommons; Q13948; -. DR Reactome; R-HSA-6811438; Intra-Golgi traffic. DR SignaLink; Q13948; -. DR BioGRID-ORCS; 1523; 10 hits in 904 CRISPR screens. DR ChiTaRS; CUX1; human. DR GenomeRNAi; 1523; -. DR Pharos; Q13948; Tbio. DR Proteomes; UP000005640; Chromosome 7. DR Bgee; ENSG00000257923; Expressed in secondary oocyte and 246 other tissues. DR ExpressionAtlas; Q13948; baseline and differential. DR Genevisible; Q13948; HS. DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA. DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome. DR GO; GO:0030173; C:integral component of Golgi membrane; IEA:InterPro. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0006891; P:intra-Golgi vesicle-mediated transport; IEA:InterPro. DR InterPro; IPR012955; CASP_C. DR Pfam; PF08172; CASP_C; 1. PE 1: Evidence at protein level; KW Alternative splicing; Coiled coil; Disulfide bond; Golgi apparatus; KW Membrane; Phosphoprotein; Polymorphism; Reference proteome; Transmembrane; KW Transmembrane helix; Transport. FT CHAIN 1..678 FT /note="Protein CASP" FT /id="PRO_0000071790" FT TOPO_DOM 1..619 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 620..640 FT /note="Helical; Anchor for type IV membrane protein" FT /evidence="ECO:0000255" FT TOPO_DOM 641..678 FT /note="Lumenal" FT /evidence="ECO:0000255" FT COILED 67..450 FT /evidence="ECO:0000255" FT COILED 502..556 FT /evidence="ECO:0000255" FT MOD_RES 586 FT /note="Phosphoserine" FT /evidence="ECO:0000244|PubMed:23186163" FT VAR_SEQ 22..58 FT /note="Missing (in isoform 9)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_045593" FT VAR_SEQ 58..73 FT /note="Missing (in isoform 10)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_045927" FT VAR_SEQ 288..289 FT /note="Missing (in isoform 8 and isoform 9)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_040094" FT VARIANT 464 FT /note="A -> T (in dbSNP:rs803064)" FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3" FT /id="VAR_024923" FT VARIANT 490 FT /note="S -> G (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036285" FT VARIANT 545 FT /note="I -> V (in dbSNP:rs2230103)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_024924" FT VARIANT 609 FT /note="R -> C (in a colorectal cancer sample; somatic FT mutation; dbSNP:rs1287689842)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036286" FT MUTAGEN 624 FT /note="Y->L: Retained in the endoplasmic reticulum." FT /evidence="ECO:0000269|PubMed:12429822" FT MUTAGEN 629 FT /note="H->L: No effect on subcellular location." FT /evidence="ECO:0000269|PubMed:12429822" FT CONFLICT 407 FT /note="N -> S (in Ref. 6; AAH25422)" FT /evidence="ECO:0000305" FT CONFLICT 455 FT /note="I -> V (in Ref. 2; BAG64254)" FT /evidence="ECO:0000305" FT CONFLICT 525 FT /note="L -> V (in Ref. 2; BAG64254)" FT /evidence="ECO:0000305" FT CONFLICT 551 FT /note="I -> V (in Ref. 3; BAD96552)" FT /evidence="ECO:0000305" FT CONFLICT 613 FT /note="S -> P (in Ref. 2; BAG54140)" FT /evidence="ECO:0000305" FT CONFLICT 657 FT /note="F -> L (in Ref. 1; AAA35654)" FT /evidence="ECO:0000305" SQ SEQUENCE 678 AA; 77455 MW; E587F222825EA47E CRC64; MAANVGSMFQ YWKRFDLQQL QRELDATATV LANRQDESEQ SRKRLIEQSR EFKKNTPEDL RKQVAPLLKS FQGEIDALSK RSKEAEAAFL NVYKRLIDVP DPVPALDLGQ QLQLKVQRLH DIETENQKLR ETLEEYNKEF AEVKNQEVTI KALKEKIREY EQTLKNQAET IALEKEQKLQ NDFAEKERKL QETQMSTTSK LEEAEHKVQS LQTALEKTRT ELFDLKTKYD EETTAKADEI EMIMTDLERA NQRAEVAQRE AETLREQLSS ANHSLQLASQ IQKAPDVEQA IEVLTRSSLE VELAAKEREI AQLVEDVQRL QASLTKLREN SASQISQLEQ QLSAKNSTLK QLEEKLKGQA DYEEVKKELN ILKSMEFAPS EGAGTQDAAK PLEVLLLEKN RSLQSENAAL RISNSDLSGR CAELQVRITE AVATATEQRE LIARLEQDLS IIQSIQRPDA EGAAEHRLEK IPEPIKEATA LFYGPAAPAS GALPEGQVDS LLSIISSQRE RFRARNQELE AENRLAQHTL QALQSELDSL RADNIKLFEK IKFLQSYPGR GSGSDDTELR YSSQYEERLD PFSSFSKRER QRKYLSLSPW DKATLSMGRL VLSNKMARTI GFFYTLFLHC LVFLVLYKLA WSESMERDCA TFCAKKFADH LHKFHENDNG AAAGDLWQ //