Q8WWB7 (NCUG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lysosomal protein NCU-G1

Gene names

Name:	C1orf85
ORF Names:	PSEC0030, UNQ2553/PRO6182

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	406 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Lysosome membrane; Single-pass type I membrane protein Ref.7 Ref.8.
Induction	Transcription is activated by TFEB. Ref.8
Post-translational modification	Highly N-glycosylated By similarity.
Caution	According to Ref.6, it binds DNA and acts as a transcription factor. However, the localization in lysosomes which was confirmed by different groups and the presence of transmembrane region strongly suggests that it does not have coactivator activity.
Sequence caution	The sequence AAH11575.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI14165.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype Ref.6. Source: BHF-UCL
Cellular_component	cytosol Inferred from direct assay Ref.6. Source: BHF-UCL integral to membrane Inferred from sequence or structural similarity. Source: UniProtKB lysosomal membrane Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from direct assay Ref.8. Source: UniProtKB nucleus Inferred from direct assay Ref.6. Source: BHF-UCL
Molecular_function	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Inferred from mutant phenotype Ref.6. Source: BHF-UCL protein binding transcription factor activity Inferred from direct assay Ref.6. Source: BHF-UCL transcription regulatory region DNA binding Inferred from direct assay Ref.6. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8WWB7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8WWB7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 35	35	Potential
	Chain	36 – 406	371	Lysosomal protein NCU-G1		PRO_0000284484
Regions
	Topological domain	36 – 372	337	Lumenal Potential
	Transmembrane	373 – 393	21	Helical; Potential
	Topological domain	394 – 406	13	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
	Glycosylation	134	1	N-linked (GlcNAc...) Potential
	Glycosylation	159	1	N-linked (GlcNAc...) Potential
	Glycosylation	187	1	N-linked (GlcNAc...) Potential
	Glycosylation	230	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 81	81	Missing in isoform 2.		VSP_037842
	Natural variant	94	1	V → I. Ref.1 Corresponds to variant rs1570805 [ dbSNP | Ensembl ].		VAR_031742
	Natural variant	203	1	P → S. Ref.5 Corresponds to variant rs10908496 [ dbSNP | Ensembl ].		VAR_031743
	Natural variant	223	1	I → V. Ref.5 Corresponds to variant rs10908495 [ dbSNP | Ensembl ].		VAR_031744

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 9FB23252A6FE9163	FASTA	406	43,864
	10 20 30 40 50 60 MRGSVECTWG WGHCAPSPLL LWTLLLFAAP FGLLGEKTRQ VSLEVIPNWL GPLQNLLHIR 70 80 90 100 110 120 AVGTNSTLHY VWSSLGPLAV VMVATNTPHS TLSVNWSLLL SPEPDGGLMV LPKDSIQFSS 130 140 150 160 170 180 ALVFTRLLEF DSTNVSDTAA KPLGRPYPPY SLADFSWNNI TDSLDPATLS ATFQGHPMND 190 200 210 220 230 240 PTRTFANGSL AFRVQAFSRS SRPAQPPRLL HTADTCQLEV ALIGASPRGN RSLFGLEVAT 250 260 270 280 290 300 LGQGPDCPSM QEQHSIDDEY APAVFQLDQL LWGSLPSGFA QWRPVAYSQK PGGRESALPC 310 320 330 340 350 360 QASPLHPALA YSLPQSPIVR AFFGSQNNFC AFNLTFGAST GPGYWDQHYL SWSMLLGVGF 370 380 390 400 PPVDGLSPLV LGIMAVALGA PGLMLLGGGL VLLLHHKKYS EYQSIN
	Isoform 2 [UniParc]. Checksum: B76B9C86EC6CAB76	FASTA	325	34,991
	10 20 30 40 50 60 MVATNTPHST LSVNWSLLLS PEPDGGLMVL PKDSIQFSSA LVFTRLLEFD STNVSDTAAK 70 80 90 100 110 120 PLGRPYPPYS LADFSWNNIT DSLDPATLSA TFQGHPMNDP TRTFANGSLA FRVQAFSRSS 130 140 150 160 170 180 RPAQPPRLLH TADTCQLEVA LIGASPRGNR SLFGLEVATL GQGPDCPSMQ EQHSIDDEYA 190 200 210 220 230 240 PAVFQLDQLL WGSLPSGFAQ WRPVAYSQKP GGRESALPCQ ASPLHPALAY SLPQSPIVRA 250 260 270 280 290 300 FFGSQNNFCA FNLTFGASTG PGYWDQHYLS WSMLLGVGFP PVDGLSPLVL GIMAVALGAP 310 320 GLMLLGGGLV LLLHHKKYSE YQSIN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-94.
[2]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Teratocarcinoma.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thalamus.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS SER-203 AND VAL-223. Tissue: Colon, Skin and Spleen.
[6]	"Human NCU-G1 can function as a transcription factor and as a nuclear receptor co-activator." Steffensen K.R., Bouzga M., Skjeldal F., Kasi C., Karahasan A., Matre V., Bakke O., Guerin S., Eskild W. BMC Mol. Biol. 8:106-106(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PUTATIVE FUNCTION.
[7]	"Integral and associated lysosomal membrane proteins." Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A. Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Placenta.
[8]	"A gene network regulating lysosomal biogenesis and function." Sardiello M., Palmieri M., di Ronza A., Medina D.L., Valenza M., Gennarino V.A., Di Malta C., Donaudy F., Embrione V., Polishchuk R.S., Banfi S., Parenti G., Cattaneo E., Ballabio A. Science 325:473-477(2009) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INDUCTION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY358450 mRNA. Translation: AAQ88815.1. AK075349 mRNA. Translation: BAC11561.1. AK296157 mRNA. Translation: BAG58896.1. AL589685 Genomic DNA. Translation: CAI14164.1. AL589685 Genomic DNA. Translation: CAI14165.1. Sequence problems. BC018757 mRNA. Translation: AAH18757.1. BC011575 mRNA. Translation: AAH11575.1. Different initiation. BC036340 mRNA. Translation: AAH36340.1.
IPI	IPI00647672. IPI00943688.
RefSeq	NP_001243538.1. NM_001256609.1. NP_653181.1. NM_144580.2.
UniGene	Hs.202522.
3D structure databases
ProteinModelPortal	Q8WWB7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8WWB7. 3 interactions.
STRING	9606.ENSP00000354553.
Polymorphism databases
DMDM	74760578.
Proteomic databases
PaxDb	Q8WWB7.
PRIDE	Q8WWB7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000362007; ENSP00000354553; ENSG00000198715. ENST00000368264; ENSP00000357247; ENSG00000198715.
GeneID	112770.
KEGG	hsa:112770.
UCSC	uc001foh.3. human.
Organism-specific databases
CTD	112770.
GeneCards	GC01M156259.
HGNC	HGNC:29436. C1orf85.
HPA	HPA029121.
neXtProt	NX_Q8WWB7.
PharmGKB	PA142672533.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40480.
InParanoid	Q8WWB7.
OMA	STLHYVW.
OrthoDB	EOG4B5P60.
Gene expression databases
Bgee	Q8WWB7.
CleanEx	HS_C1orf85.
Genevestigator	Q8WWB7.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	C1orf85. human.
GenomeRNAi	112770.
NextBio	78661.

Entry information

Entry name

NCUG1_HUMAN

Accession

Primary (citable) accession number: Q8WWB7
Secondary accession number(s): A6NH16 , B4DJN4, Q5SZX4, Q6UX96, Q8IV07, Q96F65

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	March 1, 2002
Last modified:	April 3, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.