位置:首页 > 蛋白库 > VSTM4_HUMAN
VSTM4_HUMAN
ID   VSTM4_HUMAN             Reviewed;         320 AA.
AC   Q8IW00; B4DNI6; Q96MX7;
DT   06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT   31-MAY-2011, sequence version 3.
DT   03-AUG-2022, entry version 151.
DE   RecName: Full=V-set and transmembrane domain-containing protein 4;
DE   Contains:
DE     RecName: Full=Peptide Lv;
DE   Flags: Precursor;
GN   Name=VSTM4; Synonyms=C10orf72;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP   SER-68.
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164054; DOI=10.1038/nature02462;
RA   Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA   Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA   Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA   Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA   Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA   Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA   Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA   Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA   Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA   Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA   Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA   Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA   McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA   Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA   Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA   Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA   Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA   Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA   Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA   Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA   Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 10.";
RL   Nature 429:375-381(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS SER-68 AND
RP   ARG-243.
RC   TISSUE=Brain;
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   [4]
RP   VARIANT [LARGE SCALE ANALYSIS] HIS-100.
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: Peptide Lv enhances L-type voltage-gated calcium channel (L-
CC       VGCC) currents in retinal photoreceptors.
CC       {ECO:0000250|UniProtKB:T1NXB5}.
CC   -!- INTERACTION:
CC       Q8IW00; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-4311759, EBI-3867333;
CC       Q8IW00; Q9Y680: FKBP7; NbExp=3; IntAct=EBI-4311759, EBI-3918971;
CC       Q8IW00; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-4311759, EBI-11959885;
CC       Q8IW00; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-4311759, EBI-11749135;
CC       Q8IW00; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-4311759, EBI-11953334;
CC       Q8IW00; Q99750: MDFI; NbExp=3; IntAct=EBI-4311759, EBI-724076;
CC       Q8IW00; Q16623: STX1A; NbExp=3; IntAct=EBI-4311759, EBI-712466;
CC       Q8IW00; P22735: TGM1; NbExp=3; IntAct=EBI-4311759, EBI-2562368;
CC   -!- SUBCELLULAR LOCATION: [Peptide Lv]: Secreted
CC       {ECO:0000250|UniProtKB:T1NXB5}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I
CC       membrane protein {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8IW00-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8IW00-2; Sequence=VSP_022766, VSP_022767;
CC   -!- PTM: Proteolytically cleaved to generate a bioactive peptide.
CC       {ECO:0000269|PubMed:16959974}.
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; AK056299; BAB71142.1; -; mRNA.
DR   EMBL; AK297931; BAG60248.1; -; mRNA.
DR   EMBL; AC060234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC084727; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC041414; AAH41414.1; -; mRNA.
DR   CCDS; CCDS31198.1; -. [Q8IW00-1]
DR   CCDS; CCDS7228.1; -. [Q8IW00-2]
DR   RefSeq; NP_001026916.2; NM_001031746.4. [Q8IW00-1]
DR   RefSeq; NP_659421.1; NM_144984.3. [Q8IW00-2]
DR   AlphaFoldDB; Q8IW00; -.
DR   BioGRID; 128223; 12.
DR   IntAct; Q8IW00; 10.
DR   STRING; 9606.ENSP00000331062; -.
DR   GlyGen; Q8IW00; 4 sites.
DR   iPTMnet; Q8IW00; -.
DR   PhosphoSitePlus; Q8IW00; -.
DR   BioMuta; VSTM4; -.
DR   DMDM; 334302923; -.
DR   MassIVE; Q8IW00; -.
DR   MaxQB; Q8IW00; -.
DR   PaxDb; Q8IW00; -.
DR   PeptideAtlas; Q8IW00; -.
DR   PRIDE; Q8IW00; -.
DR   ProteomicsDB; 70792; -. [Q8IW00-1]
DR   ProteomicsDB; 70793; -. [Q8IW00-2]
DR   Antibodypedia; 49933; 58 antibodies from 15 providers.
DR   DNASU; 196740; -.
DR   Ensembl; ENST00000298454.3; ENSP00000298454.3; ENSG00000165633.13. [Q8IW00-2]
DR   Ensembl; ENST00000332853.9; ENSP00000331062.3; ENSG00000165633.13. [Q8IW00-1]
DR   GeneID; 196740; -.
DR   KEGG; hsa:196740; -.
DR   MANE-Select; ENST00000332853.9; ENSP00000331062.3; NM_001031746.5; NP_001026916.2.
DR   UCSC; uc001jhf.4; human. [Q8IW00-1]
DR   CTD; 196740; -.
DR   DisGeNET; 196740; -.
DR   GeneCards; VSTM4; -.
DR   HGNC; HGNC:26470; VSTM4.
DR   HPA; ENSG00000165633; Low tissue specificity.
DR   neXtProt; NX_Q8IW00; -.
DR   OpenTargets; ENSG00000165633; -.
DR   PharmGKB; PA134889917; -.
DR   VEuPathDB; HostDB:ENSG00000165633; -.
DR   eggNOG; ENOG502QUVT; Eukaryota.
DR   GeneTree; ENSGT00390000008566; -.
DR   HOGENOM; CLU_060467_0_0_1; -.
DR   InParanoid; Q8IW00; -.
DR   OMA; WLLFADV; -.
DR   OrthoDB; 1141836at2759; -.
DR   PhylomeDB; Q8IW00; -.
DR   TreeFam; TF331374; -.
DR   PathwayCommons; Q8IW00; -.
DR   SignaLink; Q8IW00; -.
DR   BioGRID-ORCS; 196740; 7 hits in 1077 CRISPR screens.
DR   ChiTaRS; VSTM4; human.
DR   GenomeRNAi; 196740; -.
DR   Pharos; Q8IW00; Tdark.
DR   PRO; PR:Q8IW00; -.
DR   Proteomes; UP000005640; Chromosome 10.
DR   RNAct; Q8IW00; protein.
DR   Bgee; ENSG00000165633; Expressed in left adrenal gland cortex and 172 other tissues.
DR   Genevisible; Q8IW00; HS.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR   GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0043542; P:endothelial cell migration; IEA:Ensembl.
DR   GO; GO:0001935; P:endothelial cell proliferation; IEA:Ensembl.
DR   GO; GO:0097601; P:retina blood vessel maintenance; IEA:Ensembl.
DR   GO; GO:0061298; P:retina vasculature development in camera-type eye; IEA:Ensembl.
DR   GO; GO:0002040; P:sprouting angiogenesis; IEA:Ensembl.
DR   GO; GO:0042311; P:vasodilation; IEA:Ensembl.
DR   Gene3D; 2.60.40.10; -; 1.
DR   InterPro; IPR007110; Ig-like_dom.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR003599; Ig_sub.
DR   InterPro; IPR013106; Ig_V-set.
DR   Pfam; PF07686; V-set; 1.
DR   SMART; SM00409; IG; 1.
DR   SUPFAM; SSF48726; SSF48726; 1.
DR   PROSITE; PS50835; IG_LIKE; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell membrane; Disulfide bond; Glycoprotein;
KW   Immunoglobulin domain; Membrane; Reference proteome; Secreted; Signal;
KW   Transmembrane; Transmembrane helix.
FT   SIGNAL          1..23
FT                   /evidence="ECO:0000255"
FT   CHAIN           24..320
FT                   /note="V-set and transmembrane domain-containing protein 4"
FT                   /id="PRO_0000274483"
FT   PEPTIDE         55..104
FT                   /note="Peptide Lv"
FT                   /evidence="ECO:0000250|UniProtKB:T1NXB5"
FT                   /id="PRO_0000431303"
FT   TOPO_DOM        24..180
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        181..201
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        202..320
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          24..155
FT                   /note="Ig-like"
FT   CARBOHYD        25
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        41
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        89
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        144
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        46..127
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   VAR_SEQ         153..191
FT                   /note="VISLKASEESSFEKTKETWAFFEDLYVYAVLVCCVGILS -> GVSSHPVER
FT                   GAFLGISLVILPHSLPFTADLTMASFLQSS (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_022766"
FT   VAR_SEQ         192..320
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_022767"
FT   VARIANT         68
FT                   /note="F -> S (in dbSNP:rs13088)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_030291"
FT   VARIANT         100
FT                   /note="R -> H (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs138454994)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035539"
FT   VARIANT         243
FT                   /note="K -> R (in dbSNP:rs17854124)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_065188"
FT   CONFLICT        195
FT                   /note="F -> S (in Ref. 1; BAG60248)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   320 AA;  36146 MW;  AC5F325CB8B0E1C7 CRC64;
     MRLLALAAAA LLARAPAPEV CAALNVTVSP GPVVDYLEGE NATLLCHVSQ KRRKDSLLAV
     RWFFAHSFDS QEALMVKMTK LRVVQYYGNF SRSAKRRRLR LLEEQRGALY RLSVLTLQPS
     DQGHYVCRVQ EISRHRNKWT AWSNGSSATE MRVISLKASE ESSFEKTKET WAFFEDLYVY
     AVLVCCVGIL SILLFMLVIV WQSVFNKRKS RVRHYLVKCP QNSSGETVTS VTSLAPLQPK
     KGKRQKEKPD IPPAVPAKAP IAPTFHKPKL LKPQRKVTLP KIAEENLTYA ELELIKPHRA
     AKGAPTSTVY AQILFEENKL
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024