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Glycosylated lysosomal membrane protein (Lysosomal protein NCU-G1)

 GLMP_HUMAN              Reviewed;         406 AA.
Q8WWB7; A6NH16; B4DJN4; Q5SZX4; Q6UX96; Q8IV07; Q96F65;
17-APR-2007, integrated into UniProtKB/Swiss-Prot.
01-MAR-2002, sequence version 1.
25-APR-2018, entry version 118.
RecName: Full=Glycosylated lysosomal membrane protein {ECO:0000312|HGNC:HGNC:29436};
AltName: Full=Lysosomal protein NCU-G1 {ECO:0000305};
Flags: Precursor;
Name=GLMP {ECO:0000312|HGNC:HGNC:29436};
Synonyms=C1orf85 {ECO:0000312|HGNC:HGNC:29436};
ORFNames=PSEC0030, UNQ2553/PRO6182;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
ILE-94.
PubMed=12975309; DOI=10.1101/gr.1293003;
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.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Teratocarcinoma;
PubMed=16303743; DOI=10.1093/dnares/12.2.117;
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.;
"Signal sequence and keyword trap in silico for selection of full-
length human cDNAs encoding secretion or membrane proteins from oligo-
capped cDNA libraries.";
DNA Res. 12:117-126(2005).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Thalamus;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
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.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
SER-203 AND VAL-223.
TISSUE=Colon, Skin, and Spleen;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PUTATIVE FUNCTION.
PubMed=18021396; DOI=10.1186/1471-2199-8-106;
Steffensen K.R., Bouzga M., Skjeldal F., Kasi C., Karahasan A.,
Matre V., Bakke O., Guerin S., Eskild W.;
"Human NCU-G1 can function as a transcription factor and as a nuclear
receptor co-activator.";
BMC Mol. Biol. 8:106-106(2007).
[7]
SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
TISSUE=Placenta;
PubMed=17897319; DOI=10.1111/j.1600-0854.2007.00643.x;
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B.,
Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.;
"Integral and associated lysosomal membrane proteins.";
Traffic 8:1676-1686(2007).
[8]
SUBCELLULAR LOCATION, AND INDUCTION.
PubMed=19556463; DOI=10.1126/science.1174447;
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.;
"A gene network regulating lysosomal biogenesis and function.";
Science 325:473-477(2009).
[9]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
-!- SUBCELLULAR LOCATION: Lysosome membrane
{ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:19556463};
Single-pass type I membrane protein {ECO:0000269|PubMed:17897319,
ECO:0000269|PubMed:19556463}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q8WWB7-1; Sequence=Displayed;
Name=2;
IsoId=Q8WWB7-2; Sequence=VSP_037842;
Note=No experimental confirmation available.;
-!- INDUCTION: Transcription is activated by TFEB.
{ECO:0000269|PubMed:19556463}.
-!- PTM: Highly N-glycosylated. {ECO:0000250}.
-!- SIMILARITY: Belongs to the GLMP family. {ECO:0000305}.
-!- CAUTION: According to PubMed:18021396, 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. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH11575.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=CAI14165.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AY358450; AAQ88815.1; -; mRNA.
EMBL; AK075349; BAC11561.1; -; mRNA.
EMBL; AK296157; BAG58896.1; -; mRNA.
EMBL; AL589685; CAI14164.1; -; Genomic_DNA.
EMBL; AL589685; CAI14165.1; ALT_SEQ; Genomic_DNA.
EMBL; BC018757; AAH18757.1; -; mRNA.
EMBL; BC011575; AAH11575.1; ALT_INIT; mRNA.
EMBL; BC036340; AAH36340.1; -; mRNA.
CCDS; CCDS1139.1; -. [Q8WWB7-1]
CCDS; CCDS72947.1; -. [Q8WWB7-2]
RefSeq; NP_001243538.1; NM_001256609.1. [Q8WWB7-2]
RefSeq; NP_653181.1; NM_144580.2. [Q8WWB7-1]
UniGene; Hs.202522; -.
ProteinModelPortal; Q8WWB7; -.
BioGrid; 125204; 77.
IntAct; Q8WWB7; 3.
STRING; 9606.ENSP00000354553; -.
GlyConnect; 794; -.
iPTMnet; Q8WWB7; -.
PhosphoSitePlus; Q8WWB7; -.
UniCarbKB; Q8WWB7; -.
BioMuta; C1orf85; -.
DMDM; 74760578; -.
MaxQB; Q8WWB7; -.
PaxDb; Q8WWB7; -.
PeptideAtlas; Q8WWB7; -.
PRIDE; Q8WWB7; -.
Ensembl; ENST00000362007; ENSP00000354553; ENSG00000198715. [Q8WWB7-1]
Ensembl; ENST00000614643; ENSP00000480936; ENSG00000198715. [Q8WWB7-2]
GeneID; 112770; -.
KEGG; hsa:112770; -.
UCSC; uc001foh.5; human. [Q8WWB7-1]
CTD; 112770; -.
EuPathDB; HostDB:ENSG00000198715.11; -.
GeneCards; GLMP; -.
HGNC; HGNC:29436; GLMP.
HPA; HPA029121; -.
neXtProt; NX_Q8WWB7; -.
OpenTargets; ENSG00000198715; -.
PharmGKB; PA142672533; -.
eggNOG; ENOG410IGRY; Eukaryota.
eggNOG; ENOG4111F22; LUCA.
GeneTree; ENSGT00390000005131; -.
InParanoid; Q8WWB7; -.
OMA; FSWNNIT; -.
OrthoDB; EOG091G0R4Q; -.
PhylomeDB; Q8WWB7; -.
TreeFam; TF324431; -.
ChiTaRS; GLMP; human.
GenomeRNAi; 112770; -.
PRO; PR:Q8WWB7; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000198715; -.
CleanEx; HS_C1orf85; -.
ExpressionAtlas; Q8WWB7; baseline and differential.
Genevisible; Q8WWB7; HS.
GO; GO:0005829; C:cytosol; IDA:BHF-UCL.
GO; GO:0016021; C:integral component of membrane; ISS:UniProtKB.
GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
GO; GO:0005764; C:lysosome; IDA:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
GO; GO:0003700; F:DNA binding transcription factor activity; IMP:BHF-UCL.
GO; GO:0030374; F:ligand-dependent nuclear receptor transcription coactivator activity; IDA:BHF-UCL.
GO; GO:0004879; F:nuclear receptor activity; IMP:BHF-UCL.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:BHF-UCL.
InterPro; IPR029382; NCU-G1.
PANTHER; PTHR31981; PTHR31981; 1.
Pfam; PF15065; NCU-G1; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Glycoprotein; Lysosome;
Membrane; Polymorphism; Reference proteome; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 35 {ECO:0000255}.
CHAIN 36 406 Glycosylated lysosomal membrane protein.
{ECO:0000305}.
/FTId=PRO_0000284484.
TOPO_DOM 36 372 Lumenal. {ECO:0000255}.
TRANSMEM 373 393 Helical. {ECO:0000255}.
TOPO_DOM 394 406 Cytoplasmic. {ECO:0000255}.
CARBOHYD 65 65 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 134 134 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 159 159 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 187 187 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 230 230 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 81 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_037842.
VARIANT 94 94 V -> I (in dbSNP:rs1570805).
{ECO:0000269|PubMed:12975309}.
/FTId=VAR_031742.
VARIANT 203 203 P -> S (in dbSNP:rs10908496).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_031743.
VARIANT 223 223 I -> V (in dbSNP:rs10908495).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_031744.
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


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