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Protein

von Willebrand factor A domain-containing protein 8

Gene

VWA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Regions

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

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

ATP-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

HGNCiHGNC:29071. VWA8.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi23078.
OpenTargetsiENSG00000102763.
PharmGKBiPA162392941.

Polymorphism and mutation databases

BioMutaiVWA8.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 15Sequence analysisAdd BLAST15
ChainiPRO_000034268516 – 1905von Willebrand factor A domain-containing protein 8Add BLAST1890

Amino acid modifications

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

BioGridi116710. 22 interactors.
IntActiA3KMH1. 17 interactors.
STRINGi9606.ENSP00000368612.

Structurei

3D structure databases

ProteinModelPortaliA3KMH1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410ITV6. Eukaryota.
ENOG410XSKP. LUCA.
GeneTreeiENSGT00390000006601.
HOVERGENiHBG108018.
InParanoidiA3KMH1.
OMAiFMNMTGK.
OrthoDBiEOG091G0OY4.
PhylomeDBiA3KMH1.
TreeFamiTF300317.

Family and domain databases

Gene3Di3.40.50.300. 6 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR027417. P-loop_NTPase.
IPR002035. VWF_A.
[Graphical view]
PfamiPF07728. AAA_5. 3 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 4 hits.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

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 rs9562362dbSNPEnsembl.1
Natural variantiVAR_044338383M → T.1 PublicationCorresponds to variant rs3742262dbSNPEnsembl.1
Natural variantiVAR_044339408G → R.Corresponds to variant rs17062601dbSNPEnsembl.1
Natural variantiVAR_044340660R → G.Corresponds to variant rs9562353dbSNPEnsembl.1
Natural variantiVAR_061239898R → K.Corresponds to variant rs41288291dbSNPEnsembl.1
Natural variantiVAR_0495121300E → K.Corresponds to variant rs2274810dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliA3KMH1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116710. 22 interactors.
IntActiA3KMH1. 17 interactors.
STRINGi9606.ENSP00000368612.

PTM databases

iPTMnetiA3KMH1.
PhosphoSitePlusiA3KMH1.
SwissPalmiA3KMH1.

Polymorphism and mutation databases

BioMutaiVWA8.

Proteomic databases

EPDiA3KMH1.
MaxQBiA3KMH1.
PaxDbiA3KMH1.
PRIDEiA3KMH1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23078.
DisGeNETi23078.
GeneCardsiVWA8.
HGNCiHGNC:29071. VWA8.
HPAiHPA039075.
HPA045478.
neXtProtiNX_A3KMH1.
OpenTargetsiENSG00000102763.
PharmGKBiPA162392941.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITV6. Eukaryota.
ENOG410XSKP. LUCA.
GeneTreeiENSGT00390000006601.
HOVERGENiHBG108018.
InParanoidiA3KMH1.
OMAiFMNMTGK.
OrthoDBiEOG091G0OY4.
PhylomeDBiA3KMH1.
TreeFamiTF300317.

Miscellaneous databases

GenomeRNAii23078.
PROiA3KMH1.

Gene expression databases

BgeeiENSG00000102763.
CleanExiHS_KIAA0564.
GenevisibleiA3KMH1. HS.

Family and domain databases

Gene3Di3.40.50.300. 6 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR027417. P-loop_NTPase.
IPR002035. VWF_A.
[Graphical view]
PfamiPF07728. AAA_5. 3 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 4 hits.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVWA8_HUMAN
AccessioniPrimary (citable) accession number: A3KMH1
Secondary accession number(s): O60310
, Q5JTP6, Q5VW08, Q7Z6I9, Q86YC9, Q8N3E4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: November 30, 2016
This is version 86 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.