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Q96SY0 (VWA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
von Willebrand factor A domain-containing protein 9
Gene names
Name:VWA9
Synonyms:C15orf44
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length518 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Strongly expressed in numerous cancer cells compared with their non-cancerous counterparts (lung, prostate, colon, stomach and skin). Ref.5

Sequence similarities

Belongs to the VWA9 family.

Contains 1 VWFA domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96SY0-1)

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.
Isoform 2 (identifier: Q96SY0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     75-86: EALSNMDDYDKT → VQNVVSYCMYRA
     87-518: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96SY0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
Isoform 3 (identifier: Q96SY0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     4-74: VVVMDVSLSM...PFTRDYNTLQ → ESLCRRTVSGDGHG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 518518von Willebrand factor A domain-containing protein 9
PRO_0000296266

Regions

Domain2 – 204203VWFA

Amino acid modifications

Modified residue4181N6-acetyllysine Ref.6

Natural variations

Alternative sequence1 – 7979Missing in isoform 4.
VSP_044250
Alternative sequence4 – 7471VVVMD…YNTLQ → ESLCRRTVSGDGHG in isoform 3.
VSP_043277
Alternative sequence75 – 8612EALSN…DYDKT → VQNVVSYCMYRA in isoform 2.
VSP_027180
Alternative sequence87 – 518432Missing in isoform 2.
VSP_027181

Experimental info

Sequence conflict71M → I in AAH37823. Ref.4
Sequence conflict891E → G in CAB66597. Ref.1
Sequence conflict1771D → Y in BAB55140. Ref.2
Sequence conflict2061D → G in CAB66597. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 24, 2007. Version 2.
Checksum: 5B05ED69BA6451BD

FASTA51857,471
        10         20         30         40         50         60 
MPTVVVMDVS LSMTRPVSIE GSEEYQRKHL AAHGLTMLFE HMATNYKLEF TALVVFSSLW 

        70         80         90        100        110        120 
ELMVPFTRDY NTLQEALSNM DDYDKTCLES ALVGVCNIVQ QEWGGAIPCQ VVLVTDGCLG 

       130        140        150        160        170        180 
IGRGSLRHSL ATQNQRSESN RFPLPFPFPS KLYIMCMANL EELQSTDSLE CLERLIDLNN 

       190        200        210        220        230        240 
GEGQIFTIDG PLCLKNVQSM FGKLIDLAYT PFHAVLKCGH LTADVQVFPR PEPFVVDEEI 

       250        260        270        280        290        300 
DPIPKVINTD LEIVGFIDIA DISSPPVLSR HLVLPIALNK EGDEVGTGIT DDNEDENSAN 

       310        320        330        340        350        360 
QIAGKIPNFC VLLHGSLKVE GMVAIVQLGP EWHGMLYSQA DSKKKSNLMM SLFEPGPEPL 

       370        380        390        400        410        420 
PWLGKMAQLG PISDAKENPY GEDDNKSPFP LQPKNKRSYA QNVTVWIKPS GLQTDVQKIL 

       430        440        450        460        470        480 
RNARKLPEKT QTFYKELNRL RKAALAFGFL DLLKGVADML ERECTLLPET AHPDAAFQLT 

       490        500        510 
HAAQQLKLAS TGTSEYAAYD QNITPLHTDF SGSSTERI 

« Hide

Isoform 2 [UniParc].

Checksum: 4A786D266330D86F
Show »

FASTA869,955
Isoform 4 [UniParc].

Checksum: 595E0A2240664F2C
Show »

FASTA43948,434
Isoform 3 [UniParc].

Checksum: 0830F22A6AA379FB
Show »

FASTA46150,734

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
Tissue: Adrenal gland.
[3]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain and Placenta.
[5]"Expression profiles of SV40-immortalization-associated genes upregulated in various human cancers."
Jung H.M., Choi S.J., Kim J.K.
J. Cell. Biochem. 106:703-713(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[6]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-418, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001193987.1. NM_001207058.1.
NP_001193988.1. NM_001207059.1.
UniGeneHs.6686.

3D structure databases

ProteinModelPortalQ96SY0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ96SY0. 1 interaction.
MINTMINT-4716759.

PTM databases

PhosphoSiteQ96SY0.

Polymorphism databases

DMDM156631025.

Proteomic databases

PaxDbQ96SY0.
PRIDEQ96SY0.

Protocols and materials databases

DNASU81556.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000313182; ENSP00000326379; ENSG00000138614. [Q96SY0-1]
ENST00000395644; ENSP00000379006; ENSG00000138614. [Q96SY0-1]
ENST00000420799; ENSP00000408429; ENSG00000138614. [Q96SY0-3]
ENST00000431261; ENSP00000402898; ENSG00000138614. [Q96SY0-4]
GeneID81556.
KEGGhsa:81556.
UCSCuc002apd.4. human. [Q96SY0-1]
uc010ujb.2. human. [Q96SY0-3]

Organism-specific databases

CTD81556.
GeneCardsGC15M065872.
H-InvDBHIX0012354.
HGNCHGNC:25372. VWA9.
HPAHPA040255.
HPA040651.
neXtProtNX_Q96SY0.
PharmGKBPA142672279.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86191.
HOGENOMHOG000006970.
HOVERGENHBG103632.
InParanoidQ96SY0.
PhylomeDBQ96SY0.
TreeFamTF323245.

Gene expression databases

ArrayExpressQ96SY0.
BgeeQ96SY0.
CleanExHS_C15orf44.
GenevestigatorQ96SY0.

Family and domain databases

InterProIPR002035. VWF_A.
[Graphical view]
SMARTSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMSSF53300. SSF53300. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi81556.
NextBio71816.

Entry information

Entry nameVWA9_HUMAN
AccessionPrimary (citable) accession number: Q96SY0
Secondary accession number(s): B4DDI6 expand/collapse secondary AC list , B4DVD5, Q49AH8, Q96HX5, Q9H0S5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: April 16, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM