Q96SY0 (VWA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
von Willebrand factor A domain-containing protein 9

Gene names

Name:	VWA9
Synonyms:	C15orf44

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	518 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing
PTM	Acetylation
Technical term	Complete 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 518	518	von Willebrand factor A domain-containing protein 9		PRO_0000296266
Regions
	Domain	2 – 204	203	VWFA
Amino acid modifications
	Modified residue	418	1	N6-acetyllysine Ref.6
Natural variations
	Alternative sequence	1 – 79	79	Missing in isoform 4.		VSP_044250
	Alternative sequence	4 – 74	71	VVVMD…YNTLQ → ESLCRRTVSGDGHG in isoform 3.		VSP_043277
	Alternative sequence	75 – 86	12	EALSN…DYDKT → VQNVVSYCMYRA in isoform 2.		VSP_027180
	Alternative sequence	87 – 518	432	Missing in isoform 2.		VSP_027181
Experimental info
	Sequence conflict	7	1	M → I in AAH37823. Ref.4
	Sequence conflict	89	1	E → G in CAB66597. Ref.1
	Sequence conflict	177	1	D → Y in BAB55140. Ref.2
	Sequence conflict	206	1	D → G in CAB66597. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 24, 2007. Version 2. Checksum: 5B05ED69BA6451BD	FASTA	518	57,471
	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
	Isoform 2 [UniParc]. Checksum: 4A786D266330D86F	FASTA	86	9,955
	10 20 30 40 50 60 MPTVVVMDVS LSMTRPVSIE GSEEYQRKHL AAHGLTMLFE HMATNYKLEF TALVVFSSLW 70 80 ELMVPFTRDY NTLQVQNVVS YCMYRA
	Isoform 4 [UniParc]. Checksum: 595E0A2240664F2C	FASTA	439	48,434
	10 20 30 40 50 60 MDDYDKTCLE SALVGVCNIV QQEWGGAIPC QVVLVTDGCL GIGRGSLRHS LATQNQRSES 70 80 90 100 110 120 NRFPLPFPFP SKLYIMCMAN LEELQSTDSL ECLERLIDLN NGEGQIFTID GPLCLKNVQS 130 140 150 160 170 180 MFGKLIDLAY TPFHAVLKCG HLTADVQVFP RPEPFVVDEE IDPIPKVINT DLEIVGFIDI 190 200 210 220 230 240 ADISSPPVLS RHLVLPIALN KEGDEVGTGI TDDNEDENSA NQIAGKIPNF CVLLHGSLKV 250 260 270 280 290 300 EGMVAIVQLG PEWHGMLYSQ ADSKKKSNLM MSLFEPGPEP LPWLGKMAQL GPISDAKENP 310 320 330 340 350 360 YGEDDNKSPF PLQPKNKRSY AQNVTVWIKP SGLQTDVQKI LRNARKLPEK TQTFYKELNR 370 380 390 400 410 420 LRKAALAFGF LDLLKGVADM LERECTLLPE TAHPDAAFQL THAAQQLKLA STGTSEYAAY 430 DQNITPLHTD FSGSSTERI
	Isoform 3 [UniParc]. Checksum: 0830F22A6AA379FB	FASTA	461	50,734
	10 20 30 40 50 60 MPTESLCRRT VSGDGHGEAL SNMDDYDKTC LESALVGVCN IVQQEWGGAI PCQVVLVTDG 70 80 90 100 110 120 CLGIGRGSLR HSLATQNQRS ESNRFPLPFP FPSKLYIMCM ANLEELQSTD SLECLERLID 130 140 150 160 170 180 LNNGEGQIFT IDGPLCLKNV QSMFGKLIDL AYTPFHAVLK CGHLTADVQV FPRPEPFVVD 190 200 210 220 230 240 EEIDPIPKVI NTDLEIVGFI DIADISSPPV LSRHLVLPIA LNKEGDEVGT GITDDNEDEN 250 260 270 280 290 300 SANQIAGKIP NFCVLLHGSL KVEGMVAIVQ LGPEWHGMLY SQADSKKKSN LMMSLFEPGP 310 320 330 340 350 360 EPLPWLGKMA QLGPISDAKE NPYGEDDNKS PFPLQPKNKR SYAQNVTVWI KPSGLQTDVQ 370 380 390 400 410 420 KILRNARKLP EKTQTFYKEL NRLRKAALAF GFLDLLKGVA DMLERECTLL PETAHPDAAF 430 440 450 460 QLTHAAQQLK LASTGTSEYA AYDQNITPLH TDFSGSSTER I

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY.
[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.
IPI	IPI00306017. IPI00854811. IPI01018820.
RefSeq	NP_001193987.1. NM_001207058.1. NP_001193988.1. NM_001207059.1.
UniGene	Hs.6686.
3D structure databases
ProteinModelPortal	Q96SY0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96SY0. 1 interaction.
MINT	MINT-4716759.
PTM databases
PhosphoSite	Q96SY0.
Polymorphism databases
DMDM	156631025.
Proteomic databases
PaxDb	Q96SY0.
PRIDE	Q96SY0.
Protocols and materials databases
DNASU	81556.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000313182; ENSP00000326379; ENSG00000138614. ENST00000395644; ENSP00000379006; ENSG00000138614. ENST00000420799; ENSP00000408429; ENSG00000138614. ENST00000431261; ENSP00000402898; ENSG00000138614.
GeneID	81556.
KEGG	hsa:81556.
UCSC	uc002apd.3. human. uc010ujb.2. human.
Organism-specific databases
CTD	81556.
GeneCards	GC15M065871.
H-InvDB	HIX0012354.
HGNC	HGNC:25372. VWA9.
HPA	HPA040255. HPA040651.
neXtProt	NX_Q96SY0.
PharmGKB	PA142672279.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG86191.
HOGENOM	HOG000006970.
HOVERGEN	HBG103632.
InParanoid	Q96SY0.
OMA	DCLERLI.
OrthoDB	EOG4BCDMK.
PhylomeDB	Q96SY0.
Gene expression databases
ArrayExpress	Q96SY0.
Bgee	Q96SY0.
CleanEx	HS_C15orf44.
Genevestigator	Q96SY0.
Family and domain databases
InterPro	IPR002035. VWF_A. [Graphical view]
SMART	SM00327. VWA. 1 hit. [Graphical view]
PROSITE	PS50234. VWFA. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	81556.
NextBio	71816.

Entry information

Entry name

VWA9_HUMAN

Accession

Primary (citable) accession number: Q96SY0
Secondary accession number(s): B4DDI6 , B4DVD5, Q49AH8, Q96HX5, Q9H0S5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	July 24, 2007
Last modified:	May 29, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.