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Q96SY0

- VWA9_HUMAN

UniProt

Q96SY0 - VWA9_HUMAN

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Protein

von Willebrand factor A domain-containing protein 9

Gene

VWA9

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

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:25372. VWA9.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672279.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 518518von Willebrand factor A domain-containing protein 9PRO_0000296266Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei418 – 4181N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ96SY0.
PaxDbiQ96SY0.
PRIDEiQ96SY0.

PTM databases

PhosphoSiteiQ96SY0.

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

BgeeiQ96SY0.
CleanExiHS_C15orf44.
ExpressionAtlasiQ96SY0. baseline and differential.
GenevestigatoriQ96SY0.

Organism-specific databases

HPAiHPA040255.
HPA040651.

Interactioni

Protein-protein interaction databases

IntActiQ96SY0. 1 interaction.
MINTiMINT-4716759.

Structurei

3D structure databases

ProteinModelPortaliQ96SY0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 204203VWFAAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG86191.
GeneTreeiENSGT00390000009486.
HOGENOMiHOG000006970.
HOVERGENiHBG103632.
InParanoidiQ96SY0.
PhylomeDBiQ96SY0.
TreeFamiTF323245.

Family and domain databases

InterProiIPR002035. VWF_A.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 71M → I in AAH37823. (PubMed:15489334)Curated
Sequence conflicti89 – 891E → G in CAB66597. (PubMed:11230166)Curated
Sequence conflicti177 – 1771D → Y in BAB55140. (PubMed:14702039)Curated
Sequence conflicti206 – 2061D → G in CAB66597. (PubMed:11230166)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7979Missing in isoform 4. 1 PublicationVSP_044250Add
BLAST
Alternative sequencei4 – 7471VVVMD…YNTLQ → ESLCRRTVSGDGHG in isoform 3. 1 PublicationVSP_043277Add
BLAST
Alternative sequencei75 – 8612EALSN…DYDKT → VQNVVSYCMYRA in isoform 2. 1 PublicationVSP_027180Add
BLAST
Alternative sequencei87 – 518432Missing in isoform 2. 1 PublicationVSP_027181Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006720709.1. [Q96SY0-4]
XP_006720774.1. XM_006720711.1. [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.
UCSCiuc002apd.4. human. [Q96SY0-1]
uc010ujb.2. human. [Q96SY0-3]

Polymorphism databases

DMDMi156631025.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS45283.1. [Q96SY0-4 ]
CCDS55969.1. [Q96SY0-3 ]
RefSeqi NP_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_006720709.1. [Q96SY0-4 ]
XP_006720774.1. XM_006720711.1. [Q96SY0-4 ]
UniGenei Hs.6686.

3D structure databases

ProteinModelPortali Q96SY0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q96SY0. 1 interaction.
MINTi MINT-4716759.

PTM databases

PhosphoSitei Q96SY0.

Polymorphism databases

DMDMi 156631025.

Proteomic databases

MaxQBi Q96SY0.
PaxDbi Q96SY0.
PRIDEi Q96SY0.

Protocols and materials databases

DNASUi 81556.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000313182 ; ENSP00000326379 ; ENSG00000138614 . [Q96SY0-1 ]
ENST00000420799 ; ENSP00000408429 ; ENSG00000138614 . [Q96SY0-3 ]
ENST00000431261 ; ENSP00000402898 ; ENSG00000138614 . [Q96SY0-4 ]
GeneIDi 81556.
KEGGi hsa:81556.
UCSCi uc002apd.4. human. [Q96SY0-1 ]
uc010ujb.2. human. [Q96SY0-3 ]

Organism-specific databases

CTDi 81556.
GeneCardsi GC15M065872.
H-InvDB HIX0012354.
HGNCi HGNC:25372. VWA9.
HPAi HPA040255.
HPA040651.
neXtProti NX_Q96SY0.
PharmGKBi PA142672279.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86191.
GeneTreei ENSGT00390000009486.
HOGENOMi HOG000006970.
HOVERGENi HBG103632.
InParanoidi Q96SY0.
PhylomeDBi Q96SY0.
TreeFami TF323245.

Miscellaneous databases

GenomeRNAii 81556.
NextBioi 71816.

Gene expression databases

Bgeei Q96SY0.
CleanExi HS_C15orf44.
ExpressionAtlasi Q96SY0. baseline and differential.
Genevestigatori Q96SY0.

Family and domain databases

InterProi IPR002035. VWF_A.
[Graphical view ]
SMARTi SM00327. VWA. 1 hit.
[Graphical view ]
SUPFAMi SSF53300. SSF53300. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 89 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

External Data

Dasty 3