ID NCUG1_HUMAN Reviewed; 406 AA. AC Q8WWB7; A6NH16; B4DJN4; Q5SZX4; Q6UX96; Q8IV07; Q96F65; DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot. DT 01-MAR-2002, sequence version 1. DT 22-SEP-2009, entry version 54. DE RecName: Full=Lysosomal protein NCU-G1; DE Flags: Precursor; GN Name=C1orf85; ORFNames=PSEC0030, UNQ2553/PRO6182; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT RP ILE-94. RX MEDLINE=22887296; PubMed=12975309; DOI=10.1101/gr.1293003; RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., RA Wood W.I., Godowski P.J., Gray A.M.; RT "The secreted protein discovery initiative (SPDI), a large-scale RT effort to identify novel human secreted and transmembrane proteins: a RT bioinformatics assessment."; RL Genome Res. 13:2265-2270(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Teratocarcinoma; RX PubMed=16303743; DOI=10.1093/dnares/12.2.117; RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y., RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., RA Isogai T.; RT "Signal sequence and keyword trap in silico for selection of full- RT length human cDNAs encoding secretion or membrane proteins from oligo- RT capped cDNA libraries."; RL DNA Res. 12:117-126(2005). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Thalamus; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16710414; DOI=10.1038/nature04727; RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., RA Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS RP SER-203 AND VAL-223. RC TISSUE=Colon, Skin, and Spleen; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP PUTATIVE FUNCTION. RX PubMed=18021396; DOI=10.1186/1471-2199-8-106; RA Steffensen K.R., Bouzga M., Skjeldal F., Kasi C., Karahasan A., RA Matre V., Bakke O., Guerin S., Eskild W.; RT "Human NCU-G1 can function as a transcription factor and as a nuclear RT receptor co-activator."; RL BMC Mol. Biol. 8:106-106(2007). RN [7] RP SUBCELLULAR LOCATION, AND INDUCTION. RX PubMed=19556463; DOI=10.1126/science.1174447; RA Sardiello M., Palmieri M., di Ronza A., Medina D.L., Valenza M., RA Gennarino V.A., Di Malta C., Donaudy F., Embrione V., Polishchuk R.S., RA Banfi S., Parenti G., Cattaneo E., Ballabio A.; RT "A gene network regulating lysosomal biogenesis and function."; RL Science 325:473-477(2009). CC -!- SUBCELLULAR LOCATION: Lysosome membrane; Single-pass type I CC membrane protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q8WWB7-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8WWB7-2; Sequence=VSP_037842; CC Note=No experimental confirmation available; CC -!- INDUCTION: Transcription is activated by TFEB. CC -!- PTM: Highly N-glycosylated (By similarity). CC -!- CAUTION: According to PubMed:18021396, it binds DNA and acts as a CC transcription factor. However, the localiaztion in lysosomes which CC was confirmed by different groups and the presence of CC transmembrane region strongly suggests that it does not have CC coactivator activity. CC -!- SEQUENCE CAUTION: CC Sequence=CAI14165.1; Type=Erroneous gene model prediction; 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; AY358450; AAQ88815.1; -; mRNA. DR EMBL; AK075349; BAC11561.1; -; mRNA. DR EMBL; AK296157; BAG58896.1; -; mRNA. DR EMBL; AL589685; CAI14164.1; -; Genomic_DNA. DR EMBL; AL589685; CAI14165.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC018757; AAH18757.1; -; mRNA. DR EMBL; BC011575; AAH11575.1; ALT_INIT; mRNA. DR EMBL; BC036340; AAH36340.1; -; mRNA. DR IPI; IPI00647672; -. DR RefSeq; NP_653181.1; -. DR UniGene; Hs.202522; -. DR STRING; Q8WWB7; -. DR PRIDE; Q8WWB7; -. DR Ensembl; ENST00000362007; ENSP00000354553; ENSG00000198715; Homo sapiens. DR GeneID; 112770; -. DR KEGG; hsa:112770; -. DR UCSC; uc001foh.1; human. DR CTD; 112770; -. DR GeneCards; GC01M154531; -. DR HGNC; HGNC:29436; C1orf85. DR PharmGKB; PA142672533; -. DR HOVERGEN; Q8WWB7; -. DR OMA; Q8WWB7; PYPPYSL. DR NextBio; 78661; -. DR ArrayExpress; Q8WWB7; -. DR Bgee; Q8WWB7; -. DR CleanEx; HS_C1orf85; -. DR GO; GO:0016021; C:integral to membrane; ISS:UniProtKB. DR GO; GO:0005764; C:lysosome; IDA:UniProtKB. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; Glycoprotein; Lysosome; KW Membrane; Polymorphism; Signal; Transmembrane. FT SIGNAL 1 35 Potential. FT CHAIN 36 406 Lysosomal protein NCU-G1. FT /FTId=PRO_0000284484. FT TOPO_DOM 36 372 Lumenal (Potential). FT TRANSMEM 373 393 Potential. FT TOPO_DOM 394 406 Cytoplasmic (Potential). FT CARBOHYD 65 65 N-linked (GlcNAc...) (Potential). FT CARBOHYD 134 134 N-linked (GlcNAc...) (Potential). FT CARBOHYD 159 159 N-linked (GlcNAc...) (Potential). FT CARBOHYD 187 187 N-linked (GlcNAc...) (Potential). FT CARBOHYD 230 230 N-linked (GlcNAc...) (Potential). FT VAR_SEQ 1 81 Missing (in isoform 2). FT /FTId=VSP_037842. FT VARIANT 94 94 V -> I (in dbSNP:rs1570805). FT /FTId=VAR_031742. FT VARIANT 203 203 P -> S (in dbSNP:rs10908496). FT /FTId=VAR_031743. FT VARIANT 223 223 I -> V (in dbSNP:rs10908495). FT /FTId=VAR_031744. SQ SEQUENCE 406 AA; 43864 MW; 9FB23252A6FE9163 CRC64; MRGSVECTWG WGHCAPSPLL LWTLLLFAAP FGLLGEKTRQ VSLEVIPNWL GPLQNLLHIR AVGTNSTLHY VWSSLGPLAV VMVATNTPHS TLSVNWSLLL SPEPDGGLMV LPKDSIQFSS ALVFTRLLEF DSTNVSDTAA KPLGRPYPPY SLADFSWNNI TDSLDPATLS ATFQGHPMND PTRTFANGSL AFRVQAFSRS SRPAQPPRLL HTADTCQLEV ALIGASPRGN RSLFGLEVAT LGQGPDCPSM QEQHSIDDEY APAVFQLDQL LWGSLPSGFA QWRPVAYSQK PGGRESALPC QASPLHPALA YSLPQSPIVR AFFGSQNNFC AFNLTFGAST GPGYWDQHYL SWSMLLGVGF PPVDGLSPLV LGIMAVALGA PGLMLLGGGL VLLLHHKKYS EYQSIN //