VP37D_HUMAN
ID VP37D_HUMAN Reviewed; 251 AA.
AC Q86XT2; Q6P2C3;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Vacuolar protein sorting-associated protein 37D;
DE AltName: Full=ESCRT-I complex subunit VPS37D;
DE AltName: Full=Williams-Beuren syndrome chromosomal region 24 protein;
GN Name=VPS37D {ECO:0000312|HGNC:HGNC:18287};
GN Synonyms=WBSCR24 {ECO:0000312|EMBL:AAL91075.1};
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] {ECO:0000305, ECO:0000312|EMBL:AAL91075.1}
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Ucla C., Merla G., Reymond A.;
RT "Novel genes in the Williams-Beuren Syndrome critical region.";
RL Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000305}
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 [3] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-251.
RC TISSUE=Ovary;
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] {ECO:0000305}
RP IDENTIFICATION.
RX PubMed=15218037; DOI=10.1074/jbc.m405226200;
RA Stuchell M.D., Garrus J.E., Mueller B., Stray K.M., Ghaffarian S.,
RA McKinnon R., Kraeusslich H.-G., Morham S.G., Sundquist W.I.;
RT "The human endosomal sorting complex required for transport (ESCRT-I) and
RT its role in HIV-1 budding.";
RL J. Biol. Chem. 279:36059-36071(2004).
RN [5]
RP INTERACTION WITH TSG101 AND MVB12A, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=18005716; DOI=10.1016/j.chom.2007.06.003;
RA Morita E., Sandrin V., Alam S.L., Eckert D.M., Gygi S.P., Sundquist W.I.;
RT "Identification of human MVB12 proteins as ESCRT-I subunits that function
RT in HIV budding.";
RL Cell Host Microbe 2:41-53(2007).
RN [6]
RP IDENTIFICATION IN AN ESCRT-I COMPLEX WITH UBAP1, AND SUBUNIT.
RX PubMed=22405001; DOI=10.1016/j.str.2011.12.013;
RA Agromayor M., Soler N., Caballe A., Kueck T., Freund S.M., Allen M.D.,
RA Bycroft M., Perisic O., Ye Y., McDonald B., Scheel H., Hofmann K.,
RA Neil S.J., Martin-Serrano J., Williams R.L.;
RT "The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA
RT domain.";
RL Structure 20:414-428(2012).
CC -!- FUNCTION: Component of the ESCRT-I complex, a regulator of vesicular
CC trafficking process. Required for the sorting of endocytic
CC ubiquitinated cargos into multivesicular bodies. May be involved in
CC cell growth and differentiation.
CC -!- SUBUNIT: Component of the ESCRT-I complex (endosomal sorting complex
CC required for transport I) which consists of TSG101, VPS28, a VPS37
CC protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry.
CC Interacts with TSG101 and MVB12A. Component of the ESCRT-I complex
CC (endosomal sorting complex required for transport I) which consists of
CC TSG101, VPS28, a VPS37 protein (VPS37A to -D) and UBAP1 in a 1:1:1:1
CC stoichiometry. {ECO:0000269|PubMed:18005716,
CC ECO:0000269|PubMed:22405001}.
CC -!- INTERACTION:
CC Q86XT2; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-7604353, EBI-742909;
CC -!- SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000305}; Peripheral
CC membrane protein {ECO:0000305}.
CC -!- DISEASE: Note=VPS37D is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region.
CC -!- SIMILARITY: Belongs to the VPS37 family. {ECO:0000255}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL91075.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY081952; AAL91075.1; ALT_INIT; mRNA.
DR EMBL; AC073846; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC064621; AAH64621.2; -; mRNA.
DR CCDS; CCDS43596.1; -.
DR RefSeq; NP_001071089.1; NM_001077621.1.
DR AlphaFoldDB; Q86XT2; -.
DR SMR; Q86XT2; -.
DR BioGRID; 127583; 17.
DR ComplexPortal; CPX-7148; ESCRT-I complex, VPS37D-MVB12A variant.
DR ComplexPortal; CPX-7167; ESCRT-I complex, VPS37D-MVB12B variant.
DR ComplexPortal; CPX-7203; ESCRT-I complex, VPS37D-UBAP1 variant.
DR IntAct; Q86XT2; 13.
DR MINT; Q86XT2; -.
DR STRING; 9606.ENSP00000320416; -.
DR iPTMnet; Q86XT2; -.
DR PhosphoSitePlus; Q86XT2; -.
DR BioMuta; VPS37D; -.
DR DMDM; 182702221; -.
DR jPOST; Q86XT2; -.
DR MassIVE; Q86XT2; -.
DR PaxDb; Q86XT2; -.
DR PeptideAtlas; Q86XT2; -.
DR PRIDE; Q86XT2; -.
DR ProteomicsDB; 70330; -.
DR Antibodypedia; 48722; 23 antibodies from 11 providers.
DR DNASU; 155382; -.
DR Ensembl; ENST00000324941.5; ENSP00000320416.4; ENSG00000176428.6.
DR GeneID; 155382; -.
DR KEGG; hsa:155382; -.
DR MANE-Select; ENST00000324941.5; ENSP00000320416.4; NM_001077621.2; NP_001071089.1.
DR UCSC; uc003tyr.4; human.
DR CTD; 155382; -.
DR DisGeNET; 155382; -.
DR GeneCards; VPS37D; -.
DR HGNC; HGNC:18287; VPS37D.
DR HPA; ENSG00000176428; Low tissue specificity.
DR MIM; 610039; gene.
DR neXtProt; NX_Q86XT2; -.
DR OpenTargets; ENSG00000176428; -.
DR Orphanet; 904; Williams syndrome.
DR PharmGKB; PA38308; -.
DR VEuPathDB; HostDB:ENSG00000176428; -.
DR eggNOG; KOG3270; Eukaryota.
DR GeneTree; ENSGT00950000183012; -.
DR HOGENOM; CLU_081733_0_0_1; -.
DR InParanoid; Q86XT2; -.
DR OMA; LQVDREM; -.
DR OrthoDB; 1279157at2759; -.
DR PhylomeDB; Q86XT2; -.
DR TreeFam; TF321840; -.
DR PathwayCommons; Q86XT2; -.
DR Reactome; R-HSA-162588; Budding and maturation of HIV virion.
DR Reactome; R-HSA-174490; Membrane binding and targetting of GAG proteins.
DR Reactome; R-HSA-917729; Endosomal Sorting Complex Required For Transport (ESCRT).
DR Reactome; R-HSA-9610379; HCMV Late Events.
DR Reactome; R-HSA-9615710; Late endosomal microautophagy.
DR SignaLink; Q86XT2; -.
DR BioGRID-ORCS; 155382; 10 hits in 1066 CRISPR screens.
DR GenomeRNAi; 155382; -.
DR Pharos; Q86XT2; Tdark.
DR PRO; PR:Q86XT2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q86XT2; protein.
DR Bgee; ENSG00000176428; Expressed in cortical plate and 137 other tissues.
DR ExpressionAtlas; Q86XT2; baseline and differential.
DR Genevisible; Q86XT2; HS.
DR GO; GO:0010008; C:endosome membrane; TAS:Reactome.
DR GO; GO:0000813; C:ESCRT I complex; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016236; P:macroautophagy; TAS:ParkinsonsUK-UCL.
DR GO; GO:0090148; P:membrane fission; IC:ComplexPortal.
DR GO; GO:0036258; P:multivesicular body assembly; TAS:ParkinsonsUK-UCL.
DR GO; GO:0006612; P:protein targeting to membrane; IBA:GO_Central.
DR GO; GO:0006623; P:protein targeting to vacuole; IBA:GO_Central.
DR GO; GO:0043328; P:protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; IC:ComplexPortal.
DR GO; GO:0043162; P:ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; IBA:GO_Central.
DR GO; GO:0039702; P:viral budding via host ESCRT complex; TAS:ParkinsonsUK-UCL.
DR InterPro; IPR009851; Mod_r.
DR Pfam; PF07200; Mod_r; 1.
DR PROSITE; PS51314; VPS37_C; 1.
PE 1: Evidence at protein level;
KW Endosome; Membrane; Protein transport; Reference proteome; Transport;
KW Williams-Beuren syndrome.
FT CHAIN 1..251
FT /note="Vacuolar protein sorting-associated protein 37D"
FT /id="PRO_0000328927"
FT DOMAIN 93..182
FT /note="VPS37 C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00646"
FT REGION 174..251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 209..251
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 251 AA; 27730 MW; A07E752409455026 CRC64;
MYRARAARAG PEPGSPGRFG ILSTGQLRDL LQDEPKLDRI VRLSRKFQGL QLEREACLAS
NYALAKENLA LRPRLEMGRA ALAIKYQELR EVAENCADKL QRLEESMHRW SPHCALGWLQ
AELEEAEQEA EEQMEQLLLG EQSLEAFLPA FQRGRALAHL RRTQAEKLQE LLRRRERSAQ
PAPTSAADPP KSFPAAAVLP TGAARGPPAV PRSLPPLDSR PVPPLKGSPG CPLGPAPLLS
PRPSQPEPPH R
