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Protein

von Willebrand factor A domain-containing protein 8

Gene

VWA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Exhibits ATPase activity in vitro.By similarity

Caution

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi447 – 454ATPSequence analysis8

GO - Molecular functioni

Keywordsi

LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 8
Gene namesi
Name:VWA8
Synonyms:KIAA0564
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000102763.15
HGNCiHGNC:29071 VWA8
MIMi617509 gene
neXtProtiNX_A3KMH1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi23078
OpenTargetsiENSG00000102763
PharmGKBiPA162392941

Polymorphism and mutation databases

BioMutaiVWA8

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionSequence analysisAdd BLAST28
ChainiPRO_000034268529 – 1905von Willebrand factor A domain-containing protein 8Sequence analysisAdd BLAST1877

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi855N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1096N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1142N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1833N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiA3KMH1
MaxQBiA3KMH1
PaxDbiA3KMH1
PRIDEiA3KMH1

PTM databases

iPTMnetiA3KMH1
PhosphoSitePlusiA3KMH1
SwissPalmiA3KMH1

Expressioni

Gene expression databases

BgeeiENSG00000102763
CleanExiHS_KIAA0564
GenevisibleiA3KMH1 HS

Organism-specific databases

HPAiHPA039075
HPA045478

Interactioni

Protein-protein interaction databases

BioGridi11671028 interactors.
IntActiA3KMH1 18 interactors.
MINTiA3KMH1
STRINGi9606.ENSP00000368612

Structurei

3D structure databases

ProteinModelPortaliA3KMH1
SMRiA3KMH1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1714 – 1896VWFAPROSITE-ProRule annotationAdd BLAST183

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410ITV6 Eukaryota
ENOG410XSKP LUCA
GeneTreeiENSGT00390000006601
HOVERGENiHBG108018
InParanoidiA3KMH1
OMAiHEQQSNV
OrthoDBiEOG091G0OY4
PhylomeDBiA3KMH1
TreeFamiTF300317

Family and domain databases

Gene3Di3.40.50.4101 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011704 ATPase_dyneun-rel_AAA
IPR027417 P-loop_NTPase
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF07728 AAA_5, 3 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SM00327 VWA, 1 hit
SUPFAMiSSF52540 SSF52540, 4 hits
SSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A3KMH1-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MQSRLLLLGA PGGHGGPASR RMRLLLRQVV QRRPGGDRQR PEVRLLHAGS
60 70 80 90 100
GADTGDTVNI GDVSYKLKIP KNPELVPQNY ISDSLAQSVV QHLRWIMQKD
110 120 130 140 150
LLGQDVFLIG PPGPLRRSIA MQYLELTKRE VEYIALSRDT TETDLKQRRE
160 170 180 190 200
IRAGTAFYID QCAVRAATEG RTLILEGLEK AERNVLPVLN NLLENREMQL
210 220 230 240 250
EDGRFLMSAE RYDKLLRDHT KKELDSWKIV RVSENFRVIA LGLPVPRYSG
260 270 280 290 300
NPLDPPLRSR FQARDIYYLP FKDQLKLLYS IGANVSAEKV SQLLSFATTL
310 320 330 340 350
CSQESSTLGL PDFPLDSLAA AVQILDSFPM MPIKHAIQWL YPYSILLGHE
360 370 380 390 400
GKMAVEGVLK RFELQDSGSS LLPKEIVKVE KMMENHVSQA SVTIRIADKE
410 420 430 440 450
VTIKVPAGTR LLSQPCASDR FIQTLSHKQL QAEMMQSHMV KDICLIGGKG
460 470 480 490 500
CGKTVIAKNF ADTLGYNIEP IMLYQDMTAR DLLQQRYTLP NGDTAWRSSP
510 520 530 540 550
LVNAALEGKL VLLDGIHRVN AGTLAVLQRL IHDRELSLYD GSRLLREDRY
560 570 580 590 600
MRLKEELQLS DEQLQKRSIF PIHPSFRIIA LAEPPVIGST AHQWLGPEFL
610 620 630 640 650
TMFFFHYMKP LVKSEEIQVI KEKVPNVPQE ALDKLLSFTH KLRETQDPTA
660 670 680 690 700
QSLAASLSTR QLLRISRRLS QYPNENLHSA VTKACLSRFL PSLARSALEK
710 720 730 740 750
NLADATIEIN TDDNLEPELK DYKCEVTSGT LRIGAVSAPI YNAHEKMKVP
760 770 780 790 800
DVLFYDNIQH VIVMEDMLKD FLLGEHLLLV GNQGVGKNKI VDRFLHLLNR
810 820 830 840 850
PREYIQLHRD TTVQTLTLQP SVKDGLIVYE DSPLVKAVKL GHILVVDEAD
860 870 880 890 900
KAPTNVTCIL KTLVENGEMI LADGRRIVAN SANVNGRENV VVIHPDFRMI
910 920 930 940 950
VLANRPGFPF LGNDFFGTLG DIFSCHAVDN PKPHSELEML RQYGPNVPEP
960 970 980 990 1000
ILQKLVAAFG ELRSLADQGI INYPYSTREV VNIVKHLQKF PTEGLSSVVR
1010 1020 1030 1040 1050
NVFDFDSYNN DMREILINTL HKYGIPIGAK PTSVQLAKEL TLPEQTFMGY
1060 1070 1080 1090 1100
WTIGQARSGM QKLLCPVETH HIDIKGPALI NIQEYPIERH EERSLNFTEE
1110 1120 1130 1140 1150
CASWRIPLDE INIICDIATS HENEQNTLYV VTCNPASLYF MNMTGKSGFF
1160 1170 1180 1190 1200
VDFFDIFPRT ANGVWHPFVT VAPLGSPLKG QVVLHEQQSN VILLLDTTGR
1210 1220 1230 1240 1250
ALHRLILPSE KFTSKKPFWW NKEEAETYKM CKEFSHKNWL VFYKEKGNSL
1260 1270 1280 1290 1300
TVLDVLEGRT HTISLPINLK TVFLVAEDKW LLVESKTNQK YLLTKPAHIE
1310 1320 1330 1340 1350
SEGSGVCQLY VLKEEPPSTG FGVTQETEFS IPHKISSDQL SSEHLSSAVE
1360 1370 1380 1390 1400
QKIASPNRIL SDEKNYATIV VGFPDLMSPS EVYSWKRPSS LHKRSGTDTS
1410 1420 1430 1440 1450
FYRGKKKRGT PKQSNCVTLL DTNQVVRILP PGEVPLKDIY PKDVTPPQTS
1460 1470 1480 1490 1500
GYIEVTDLQS KKLRYIPIPR SESLSPYTTW LSTISDTDAL LAEWDKSGVV
1510 1520 1530 1540 1550
TVDMGGHIRL WETGLERLQR SLMEWRNMIG QDDRNMQITI NRDSGEDVSS
1560 1570 1580 1590 1600
PKHGKEDPDN MPHVGGNTWA GGTGGRDTAG LGGKGGPYRL DAGHTVYQVS
1610 1620 1630 1640 1650
QAEKDAVPEE VKRAAREMGQ RAFQQRLKEI QMSEYDAATY ERFSGAVRRQ
1660 1670 1680 1690 1700
VHSLRIILDN LQAKGKERQW LRHQATGELD DAKIIDGLTG EKAIYKRRGE
1710 1720 1730 1740 1750
LEPQLGSPQQ KPKRLRLVVD VSGSMYRFNR MDGRLERTME AVCMVMEAFE
1760 1770 1780 1790 1800
NYEEKFQYDI VGHSGDGYNI GLVPMNKIPK DNKQRLEILK TMHAHSQFCM
1810 1820 1830 1840 1850
SGDHTLEGTE HAIKEIVKEE ADEYFVIVLS DANLSRYGIH PAKFAQILTR
1860 1870 1880 1890 1900
DPQVNAFAIF IGSLGDQATR LQRTLPAGRS FVAMDTKDIP QILQQIFTST

MLSSV
Length:1,905
Mass (Da):214,824
Last modified:July 22, 2008 - v2
Checksum:i66706A1CF4E506B0
GO
Isoform 2 (identifier: A3KMH1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1040-1905: Missing.

Show »
Length:1,039
Mass (Da):116,940
Checksum:i8360811416C82165
GO
Isoform 3 (identifier: A3KMH1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLH → GTPLDPRAPSPSPT

Note: Incomplete sequence.
Show »
Length:1,872
Mass (Da):210,924
Checksum:i1B38C7DA6334A3CB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044337165R → H. Corresponds to variant dbSNP:rs9562362Ensembl.1
Natural variantiVAR_044338383M → T1 PublicationCorresponds to variant dbSNP:rs3742262Ensembl.1
Natural variantiVAR_044339408G → R. Corresponds to variant dbSNP:rs17062601Ensembl.1
Natural variantiVAR_044340660R → G. Corresponds to variant dbSNP:rs9562353Ensembl.1
Natural variantiVAR_061239898R → K. Corresponds to variant dbSNP:rs41288291Ensembl.1
Natural variantiVAR_0495121300E → K. Corresponds to variant dbSNP:rs2274810Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0345321 – 47MQSRL…VRLLH → GTPLDPRAPSPSPT in isoform 3. CuratedAdd BLAST47
Alternative sequenceiVSP_0345331040 – 1905Missing in isoform 2. 2 PublicationsAdd BLAST866

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL442203, AL161417, AL163544 Genomic DNA Translation: CAH70373.1
AL161417 Genomic DNA Translation: CAI39490.1
AL161417 Genomic DNA Translation: CAI39491.1
AL354833
, AL160252, AL161417, AL163544 Genomic DNA Translation: CAI39586.1 Sequence problems.
AL163544 Genomic DNA Translation: CAI40169.1
AL163544 Genomic DNA Translation: CAI40170.1
AL160252 Genomic DNA Translation: CAI40564.1
BC042924 mRNA Translation: AAH42924.2
BC053674 mRNA Translation: AAH53674.2
BC131802 mRNA Translation: AAI31803.1
AB011136 mRNA Translation: BAA25490.1
AL834181 mRNA Translation: CAD38878.1
CCDSiCCDS31963.1 [A3KMH1-2]
CCDS41881.1 [A3KMH1-1]
PIRiT00335
RefSeqiNP_001009814.1, NM_001009814.1 [A3KMH1-2]
NP_055873.1, NM_015058.1 [A3KMH1-1]
XP_016875963.1, XM_017020474.1 [A3KMH1-2]
UniGeneiHs.368282

Genome annotation databases

EnsembliENST00000281496; ENSP00000281496; ENSG00000102763 [A3KMH1-2]
ENST00000379310; ENSP00000368612; ENSG00000102763 [A3KMH1-1]
GeneIDi23078
KEGGihsa:23078
UCSCiuc001uyj.4 human [A3KMH1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiVWA8_HUMAN
AccessioniPrimary (citable) accession number: A3KMH1
Secondary accession number(s): O60310
, Q5JTP6, Q5VW08, Q7Z6I9, Q86YC9, Q8N3E4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: March 28, 2018
This is version 97 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome