VP9D1_HUMAN
ID VP9D1_HUMAN Reviewed; 631 AA.
AC Q9Y2B5;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=VPS9 domain-containing protein 1;
DE AltName: Full=Protein ATP-BL;
GN Name=VPS9D1; Synonyms=ATPBL, C16orf7;
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 [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
RC TISSUE=Leukocyte;
RX PubMed=10231027; DOI=10.1093/dnares/6.1.29;
RA Sugimoto J., Hatakeyama T., Isobe M.;
RT "Isolation and mapping of putative b subunit of human ATPase (ATP-BL) from
RT human leukocytes.";
RL DNA Res. 6:29-35(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
CC -!- INTERACTION:
CC Q9Y2B5; Q9H7C9: AAMDC; NbExp=3; IntAct=EBI-9031083, EBI-10308705;
CC Q9Y2B5; Q9NZD4: AHSP; NbExp=3; IntAct=EBI-9031083, EBI-720250;
CC Q9Y2B5; Q6PJH3: AKAP9; NbExp=3; IntAct=EBI-9031083, EBI-11745576;
CC Q9Y2B5; P0C7W6: CCDC172; NbExp=3; IntAct=EBI-9031083, EBI-2548868;
CC Q9Y2B5; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-9031083, EBI-10175300;
CC Q9Y2B5; Q8WWB3: DYDC1; NbExp=3; IntAct=EBI-9031083, EBI-740680;
CC Q9Y2B5; Q7L5A3: FAM214B; NbExp=3; IntAct=EBI-9031083, EBI-745689;
CC Q9Y2B5; Q15323: KRT31; NbExp=3; IntAct=EBI-9031083, EBI-948001;
CC Q9Y2B5; Q92764: KRT35; NbExp=3; IntAct=EBI-9031083, EBI-1058674;
CC Q9Y2B5; Q6A163: KRT39; NbExp=3; IntAct=EBI-9031083, EBI-11958242;
CC Q9Y2B5; Q9H492: MAP1LC3A; NbExp=6; IntAct=EBI-9031083, EBI-720768;
CC Q9Y2B5; Q13064: MKRN3; NbExp=3; IntAct=EBI-9031083, EBI-2340269;
CC Q9Y2B5; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-9031083, EBI-302345;
CC Q9Y2B5; P78424: POU6F2; NbExp=3; IntAct=EBI-9031083, EBI-12029004;
CC Q9Y2B5; Q13200: PSMD2; NbExp=3; IntAct=EBI-9031083, EBI-357648;
CC Q9Y2B5; O75771: RAD51D; NbExp=3; IntAct=EBI-9031083, EBI-1055693;
CC Q9Y2B5; Q9UHP6: RSPH14; NbExp=3; IntAct=EBI-9031083, EBI-748350;
CC Q9Y2B5; Q9BSW7: SYT17; NbExp=3; IntAct=EBI-9031083, EBI-745392;
CC Q9Y2B5; P19474: TRIM21; NbExp=3; IntAct=EBI-9031083, EBI-81290;
CC Q9Y2B5; P14373: TRIM27; NbExp=3; IntAct=EBI-9031083, EBI-719493;
CC Q9Y2B5; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-9031083, EBI-2130429;
CC Q9Y2B5; Q6PF05: TTC23L; NbExp=3; IntAct=EBI-9031083, EBI-8656864;
CC Q9Y2B5; Q5T124-6: UBXN11; NbExp=3; IntAct=EBI-9031083, EBI-11524408;
CC Q9Y2B5; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-9031083, EBI-9031083;
CC Q9Y2B5; Q8N720: ZNF655; NbExp=3; IntAct=EBI-9031083, EBI-625509;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y2B5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2B5-2; Sequence=VSP_040306;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10231027}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76711.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB018551; BAA76711.1; ALT_FRAME; mRNA.
DR EMBL; AC010538; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS42220.1; -. [Q9Y2B5-1]
DR RefSeq; NP_004904.2; NM_004913.2. [Q9Y2B5-1]
DR AlphaFoldDB; Q9Y2B5; -.
DR SMR; Q9Y2B5; -.
DR BioGRID; 114969; 44.
DR IntAct; Q9Y2B5; 31.
DR STRING; 9606.ENSP00000374037; -.
DR iPTMnet; Q9Y2B5; -.
DR PhosphoSitePlus; Q9Y2B5; -.
DR BioMuta; VPS9D1; -.
DR DMDM; 317373349; -.
DR EPD; Q9Y2B5; -.
DR jPOST; Q9Y2B5; -.
DR MassIVE; Q9Y2B5; -.
DR PaxDb; Q9Y2B5; -.
DR PeptideAtlas; Q9Y2B5; -.
DR PRIDE; Q9Y2B5; -.
DR ProteomicsDB; 85720; -. [Q9Y2B5-1]
DR ProteomicsDB; 85721; -. [Q9Y2B5-2]
DR Antibodypedia; 1753; 35 antibodies from 8 providers.
DR DNASU; 9605; -.
DR Ensembl; ENST00000389386.8; ENSP00000374037.3; ENSG00000075399.14. [Q9Y2B5-1]
DR GeneID; 9605; -.
DR KEGG; hsa:9605; -.
DR MANE-Select; ENST00000389386.8; ENSP00000374037.3; NM_004913.3; NP_004904.2.
DR UCSC; uc002fom.2; human. [Q9Y2B5-1]
DR CTD; 9605; -.
DR DisGeNET; 9605; -.
DR GeneCards; VPS9D1; -.
DR HGNC; HGNC:13526; VPS9D1.
DR HPA; ENSG00000075399; Low tissue specificity.
DR MIM; 619292; gene.
DR neXtProt; NX_Q9Y2B5; -.
DR OpenTargets; ENSG00000075399; -.
DR PharmGKB; PA25562; -.
DR VEuPathDB; HostDB:ENSG00000075399; -.
DR eggNOG; ENOG502QSSQ; Eukaryota.
DR GeneTree; ENSGT00390000015057; -.
DR InParanoid; Q9Y2B5; -.
DR OMA; RAICVCA; -.
DR OrthoDB; 1109212at2759; -.
DR PhylomeDB; Q9Y2B5; -.
DR TreeFam; TF332037; -.
DR BioCyc; MetaCyc:ENSG00000075399-MON; -.
DR PathwayCommons; Q9Y2B5; -.
DR SignaLink; Q9Y2B5; -.
DR BioGRID-ORCS; 9605; 15 hits in 1081 CRISPR screens.
DR ChiTaRS; VPS9D1; human.
DR GeneWiki; C16orf7; -.
DR GenomeRNAi; 9605; -.
DR Pharos; Q9Y2B5; Tdark.
DR PRO; PR:Q9Y2B5; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9Y2B5; protein.
DR Bgee; ENSG00000075399; Expressed in right frontal lobe and 135 other tissues.
DR ExpressionAtlas; Q9Y2B5; baseline and differential.
DR Genevisible; Q9Y2B5; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0030139; C:endocytic vesicle; IBA:GO_Central.
DR GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0031267; F:small GTPase binding; IBA:GO_Central.
DR GO; GO:0015986; P:proton motive force-driven ATP synthesis; TAS:ProtInc.
DR GO; GO:0016192; P:vesicle-mediated transport; IEA:InterPro.
DR Gene3D; 1.20.1050.80; -; 1.
DR InterPro; IPR003123; VPS9.
DR InterPro; IPR045046; Vps9-like.
DR InterPro; IPR037191; VPS9_dom_sf.
DR PANTHER; PTHR23101; PTHR23101; 1.
DR Pfam; PF02204; VPS9; 1.
DR SMART; SM00167; VPS9; 1.
DR SUPFAM; SSF109993; SSF109993; 1.
DR PROSITE; PS51205; VPS9; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; GTPase activation; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..631
FT /note="VPS9 domain-containing protein 1"
FT /id="PRO_0000079279"
FT DOMAIN 467..630
FT /note="VPS9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00550"
FT REGION 318..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 187..221
FT /evidence="ECO:0000255"
FT COMPBIAS 339..361
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 116
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C190"
FT VAR_SEQ 1..33
FT /note="MAAAAGDGTVKPLQSAMKLANGAIELDTGNRPR -> MLLCPAQKTVFRLQL
FT TTAAQCLWVYLRDKQVVVFLAYPTRAPGRNNGVTSLHWPDPTLSLSWTQ (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:10231027"
FT /id="VSP_040306"
FT CONFLICT 225..226
FT /note="QV -> KF (in Ref. 1; BAA76711)"
FT /evidence="ECO:0000305"
FT CONFLICT 392
FT /note="R -> P (in Ref. 1; BAA76711)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 631 AA; 68956 MW; 0C302E7BA496B27A CRC64;
MAAAAGDGTV KPLQSAMKLA NGAIELDTGN RPREAYTEYL RSIHYISQVL LEEVETTKEA
GETVPPDTSK MLKLAQQCLE RAQSTAAKLG KTRLKPTMPA AAPIPQPAGR HRRVYSDEGG
KLSPFLPPEI FQKLQGAESQ SCKKELTPLE EASLQNQKLK AAYEARMARL DPSQAMQKTS
LTLSLQRQMM ENLVIAKARE ETLQRKMEER RLRLQEAANR RFCSQVALTP EEREQRALYA
AILEYEQDHD WPKHWKAKLK RNPGDLSLVT SLVSHLLSLP DHPIAQLLRR LQCSVYSALY
PAVSRAAAPA PGCCPPTPNP GSRRLRPSQS LHCMLSPPEP SAAPRPQDSP PTPPLQPGPV
GSPSPLGDTA SGLPDKDSSF EDLEQFLGTS ERQGRGRGVQ PEPQLQQLKT AVEEIHNAVD
RLLSLTLLAF EGLNTAASKD RCLACIEEPF FSPLWPLLLA LYRSVHRARE AALSRSMELY
RNAPPTAIGI PTKLLPQNPE AKGATGYPYC AAAQELGLLV LESCPQKKLE CIVRTLRIIC
VCAEDYCPTP EATPQAGPPP IAAAAIGADD LLPILSFVVL RSGLPQLVSE CAALEEFIHE
GYLIGEEGYC LTSLQSALSY VELLPRGGLA K
