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Protein

von Willebrand factor A domain-containing protein 9

Gene

VWA9

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

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6807505. RNA polymerase II transcribes snRNA genes.

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 9
Gene namesi
Name:VWA9
Synonyms:C15orf44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:25372. VWA9.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000138614.
PharmGKBiPA142672279.

Polymorphism and mutation databases

BioMutaiVWA9.
DMDMi156631025.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002962661 – 518von Willebrand factor A domain-containing protein 9Add BLAST518

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei418N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96SY0.
MaxQBiQ96SY0.
PaxDbiQ96SY0.
PeptideAtlasiQ96SY0.
PRIDEiQ96SY0.

PTM databases

iPTMnetiQ96SY0.
PhosphoSitePlusiQ96SY0.

Expressioni

Tissue specificityi

Strongly expressed in numerous cancer cells compared with their non-cancerous counterparts (lung, prostate, colon, stomach and skin).1 Publication

Gene expression databases

BgeeiENSG00000138614.
CleanExiHS_C15orf44.
ExpressionAtlasiQ96SY0. baseline and differential.
GenevisibleiQ96SY0. HS.

Organism-specific databases

HPAiHPA040255.
HPA040651.

Interactioni

Protein-protein interaction databases

BioGridi123520. 49 interactors.
IntActiQ96SY0. 32 interactors.
MINTiMINT-4716759.
STRINGi9606.ENSP00000326379.

Structurei

3D structure databases

ProteinModelPortaliQ96SY0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 204VWFAAdd BLAST203

Sequence similaritiesi

Belongs to the VWA9 family.Curated
Contains 1 VWFA domain.Curated

Phylogenomic databases

eggNOGiENOG410IF13. Eukaryota.
ENOG410XP9S. LUCA.
GeneTreeiENSGT00390000009486.
HOGENOMiHOG000006970.
HOVERGENiHBG103632.
InParanoidiQ96SY0.
PhylomeDBiQ96SY0.
TreeFamiTF323245.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR002035. VWF_A.
[Graphical view]
PfamiPF13519. VWA_2. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96SY0-1) [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
MPTVVVMDVS LSMTRPVSIE GSEEYQRKHL AAHGLTMLFE HMATNYKLEF
60 70 80 90 100
TALVVFSSLW ELMVPFTRDY NTLQEALSNM DDYDKTCLES ALVGVCNIVQ
110 120 130 140 150
QEWGGAIPCQ VVLVTDGCLG IGRGSLRHSL ATQNQRSESN RFPLPFPFPS
160 170 180 190 200
KLYIMCMANL EELQSTDSLE CLERLIDLNN GEGQIFTIDG PLCLKNVQSM
210 220 230 240 250
FGKLIDLAYT PFHAVLKCGH LTADVQVFPR PEPFVVDEEI DPIPKVINTD
260 270 280 290 300
LEIVGFIDIA DISSPPVLSR HLVLPIALNK EGDEVGTGIT DDNEDENSAN
310 320 330 340 350
QIAGKIPNFC VLLHGSLKVE GMVAIVQLGP EWHGMLYSQA DSKKKSNLMM
360 370 380 390 400
SLFEPGPEPL PWLGKMAQLG PISDAKENPY GEDDNKSPFP LQPKNKRSYA
410 420 430 440 450
QNVTVWIKPS GLQTDVQKIL RNARKLPEKT QTFYKELNRL RKAALAFGFL
460 470 480 490 500
DLLKGVADML ERECTLLPET AHPDAAFQLT HAAQQLKLAS TGTSEYAAYD
510
QNITPLHTDF SGSSTERI
Length:518
Mass (Da):57,471
Last modified:July 24, 2007 - v2
Checksum:i5B05ED69BA6451BD
GO
Isoform 2 (identifier: Q96SY0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     75-86: EALSNMDDYDKT → VQNVVSYCMYRA
     87-518: Missing.

Note: No experimental confirmation available.
Show »
Length:86
Mass (Da):9,955
Checksum:i4A786D266330D86F
GO
Isoform 4 (identifier: Q96SY0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.

Show »
Length:439
Mass (Da):48,434
Checksum:i595E0A2240664F2C
GO
Isoform 3 (identifier: Q96SY0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4-74: VVVMDVSLSM...PFTRDYNTLQ → ESLCRRTVSGDGHG

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):50,734
Checksum:i0830F22A6AA379FB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7M → I in AAH37823 (PubMed:15489334).Curated1
Sequence conflicti89E → G in CAB66597 (PubMed:11230166).Curated1
Sequence conflicti177D → Y in BAB55140 (PubMed:14702039).Curated1
Sequence conflicti206D → G in CAB66597 (PubMed:11230166).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442501 – 79Missing in isoform 4. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_0432774 – 74VVVMD…YNTLQ → ESLCRRTVSGDGHG in isoform 3. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_02718075 – 86EALSN…DYDKT → VQNVVSYCMYRA in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_02718187 – 518Missing in isoform 2. 1 PublicationAdd BLAST432

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136662 mRNA. Translation: CAB66597.1.
AK301033 mRNA. Translation: BAG62647.1.
AK027475 mRNA. Translation: BAB55140.1.
AK293207 mRNA. Translation: BAG56747.1.
AC027220 Genomic DNA. No translation available.
BC037823 mRNA. Translation: AAH37823.1.
BC007991 mRNA. Translation: AAH07991.1.
CCDSiCCDS45283.1. [Q96SY0-4]
CCDS55969.1. [Q96SY0-3]
RefSeqiNP_001129515.1. NM_001136043.2. [Q96SY0-4]
NP_001193987.1. NM_001207058.1.
NP_001193988.1. NM_001207059.1. [Q96SY0-3]
XP_006720772.1. XM_006720709.3. [Q96SY0-4]
XP_006720774.1. XM_006720711.2. [Q96SY0-4]
XP_011520403.1. XM_011522101.2. [Q96SY0-4]
XP_016878133.1. XM_017022644.1. [Q96SY0-4]
UniGeneiHs.6686.

Genome annotation databases

EnsembliENST00000313182; ENSP00000326379; ENSG00000138614. [Q96SY0-1]
ENST00000420799; ENSP00000408429; ENSG00000138614. [Q96SY0-3]
ENST00000431261; ENSP00000402898; ENSG00000138614. [Q96SY0-4]
GeneIDi81556.
KEGGihsa:81556.
UCSCiuc002ape.5. human. [Q96SY0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136662 mRNA. Translation: CAB66597.1.
AK301033 mRNA. Translation: BAG62647.1.
AK027475 mRNA. Translation: BAB55140.1.
AK293207 mRNA. Translation: BAG56747.1.
AC027220 Genomic DNA. No translation available.
BC037823 mRNA. Translation: AAH37823.1.
BC007991 mRNA. Translation: AAH07991.1.
CCDSiCCDS45283.1. [Q96SY0-4]
CCDS55969.1. [Q96SY0-3]
RefSeqiNP_001129515.1. NM_001136043.2. [Q96SY0-4]
NP_001193987.1. NM_001207058.1.
NP_001193988.1. NM_001207059.1. [Q96SY0-3]
XP_006720772.1. XM_006720709.3. [Q96SY0-4]
XP_006720774.1. XM_006720711.2. [Q96SY0-4]
XP_011520403.1. XM_011522101.2. [Q96SY0-4]
XP_016878133.1. XM_017022644.1. [Q96SY0-4]
UniGeneiHs.6686.

3D structure databases

ProteinModelPortaliQ96SY0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123520. 49 interactors.
IntActiQ96SY0. 32 interactors.
MINTiMINT-4716759.
STRINGi9606.ENSP00000326379.

PTM databases

iPTMnetiQ96SY0.
PhosphoSitePlusiQ96SY0.

Polymorphism and mutation databases

BioMutaiVWA9.
DMDMi156631025.

Proteomic databases

EPDiQ96SY0.
MaxQBiQ96SY0.
PaxDbiQ96SY0.
PeptideAtlasiQ96SY0.
PRIDEiQ96SY0.

Protocols and materials databases

DNASUi81556.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313182; ENSP00000326379; ENSG00000138614. [Q96SY0-1]
ENST00000420799; ENSP00000408429; ENSG00000138614. [Q96SY0-3]
ENST00000431261; ENSP00000402898; ENSG00000138614. [Q96SY0-4]
GeneIDi81556.
KEGGihsa:81556.
UCSCiuc002ape.5. human. [Q96SY0-1]

Organism-specific databases

CTDi81556.
GeneCardsiVWA9.
H-InvDBHIX0012354.
HGNCiHGNC:25372. VWA9.
HPAiHPA040255.
HPA040651.
neXtProtiNX_Q96SY0.
OpenTargetsiENSG00000138614.
PharmGKBiPA142672279.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF13. Eukaryota.
ENOG410XP9S. LUCA.
GeneTreeiENSGT00390000009486.
HOGENOMiHOG000006970.
HOVERGENiHBG103632.
InParanoidiQ96SY0.
PhylomeDBiQ96SY0.
TreeFamiTF323245.

Enzyme and pathway databases

ReactomeiR-HSA-6807505. RNA polymerase II transcribes snRNA genes.

Miscellaneous databases

GenomeRNAii81556.
PROiQ96SY0.

Gene expression databases

BgeeiENSG00000138614.
CleanExiHS_C15orf44.
ExpressionAtlasiQ96SY0. baseline and differential.
GenevisibleiQ96SY0. HS.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR002035. VWF_A.
[Graphical view]
PfamiPF13519. VWA_2. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiVWA9_HUMAN
AccessioniPrimary (citable) accession number: Q96SY0
Secondary accession number(s): B4DDI6
, B4DVD5, Q49AH8, Q96HX5, Q9H0S5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: November 30, 2016
This is version 107 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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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.