Q8N2E2 (VWDE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
von Willebrand factor D and EGF domain-containing protein

Gene names

Name:

VWDE

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	1590 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Secreted Potential.
Sequence similarities	Contains 7 EGF-like domains. Contains 1 VWFD domain.
Sequence caution	The sequence BAB55237.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC11671.1 differs from that shown. Reason: Intron retention. The sequence EAW93644.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Domain	EGF-like domain Repeat Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 1590	1570	von Willebrand factor D and EGF domain-containing protein		PRO_0000329441
Regions
	Domain	424 – 641	218	VWFD
	Domain	1177 – 1216	40	EGF-like 1
	Domain	1294 – 1326	33	EGF-like 2
	Domain	1358 – 1390	33	EGF-like 3
	Domain	1422 – 1454	33	EGF-like 4
	Domain	1455 – 1486	32	EGF-like 5
	Domain	1518 – 1550	33	EGF-like 6
	Domain	1551 – 1582	32	EGF-like 7
Amino acid modifications
	Glycosylation	367	1	N-linked (GlcNAc...) Potential
	Glycosylation	703	1	N-linked (GlcNAc...) Potential
	Glycosylation	968	1	N-linked (GlcNAc...) Potential
	Disulfide bond	1181 ↔ 1189		By similarity
	Disulfide bond	1183 ↔ 1204		By similarity
	Disulfide bond	1206 ↔ 1215		By similarity
	Disulfide bond	1298 ↔ 1308		By similarity
	Disulfide bond	1302 ↔ 1314		By similarity
	Disulfide bond	1316 ↔ 1325		By similarity
	Disulfide bond	1362 ↔ 1372		By similarity
	Disulfide bond	1366 ↔ 1378		By similarity
	Disulfide bond	1380 ↔ 1389		By similarity
	Disulfide bond	1426 ↔ 1436		By similarity
	Disulfide bond	1430 ↔ 1442		By similarity
	Disulfide bond	1444 ↔ 1453		By similarity
	Disulfide bond	1458 ↔ 1468		By similarity
	Disulfide bond	1462 ↔ 1474		By similarity
	Disulfide bond	1522 ↔ 1532		By similarity
	Disulfide bond	1526 ↔ 1538		By similarity
	Disulfide bond	1540 ↔ 1549		By similarity
	Disulfide bond	1554 ↔ 1564		By similarity
	Disulfide bond	1558 ↔ 1570		By similarity
	Disulfide bond	1572 ↔ 1581		By similarity
Natural variations
	Natural variant	964	1	K → N. Corresponds to variant rs6460939 [ dbSNP | Ensembl ].		VAR_047871
	Natural variant	1032	1	T → M. Corresponds to variant rs2053380 [ dbSNP | Ensembl ].		VAR_047872
	Natural variant	1256	1	Q → K. Ref.4 Corresponds to variant rs6967385 [ dbSNP | Ensembl ].		VAR_047873
	Natural variant	1485	1	F → C. Ref.4 Corresponds to variant rs2192828 [ dbSNP | Ensembl ].		VAR_047874
Experimental info
	Sequence conflict	1106	1	Q → L in BAB55237. Ref.4
	Sequence conflict	1371	1	T → I in BAB55237. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q8N2E2 [UniParc]. Last modified April 5, 2011. Version 4. Checksum: 58BAB222EE4D3F04	FASTA	1,590	176,780
	10 20 30 40 50 60 MPGGACVLVI ALMFLAWGEA QECSPGGHQF LRSPYRSVRF DSWHLQQSAV QDLICDHSLS 70 80 90 100 110 120 PGWYRFLILD RPAEMPTKCV EMNHCGTQAP IWLSLRDSET LPSPGEIKQL TACATWQFLF 130 140 150 160 170 180 STTKDCCLFQ IPVSVRNCGN FSVYLLQPTQ GCMGYCAEAI SDARLHPCGS DETETGGDCV 190 200 210 220 230 240 RQLAASLPPP PAGRPEVLVE LIESRLFCRC SFDVPATKNS VGFHIAWSRL SSQEVKEELT 250 260 270 280 290 300 QETTVQAFSL LELDGINLRL GDRIFCSASV FFLENPHVQS VAIESQEFFA GFKLQPELST 310 320 330 340 350 360 ISEDGKEYYL RIESTVPIIC SEFSELDQEC KISLKLKTIG QGREHLGLNL ALSSCHVDLL 370 380 390 400 410 420 QTSSCANGTC SHTFVYYTAV TDFSRDGDRV SNIVVQPIVN EDFLWNNYIP DSIQIKVKDV 430 440 450 460 470 480 PTAYCYTFTD PHIITFDGRV YDNFKTGTFV LYKSMSRDFE VHVRQWDCRS LHYPVSCNCG 490 500 510 520 530 540 FVAQEGGDIV TFDMCNGQLR ESQPYLFIKS QDVTRNIKIS ESYLGRKVTI WFSSGAFIRA 550 560 570 580 590 600 DLGEWGMSLT IRAPSVDYRN TLGLCGTFDE NPENDFHDKN GMQIDQNFNN YVAFINEWRI 610 620 630 640 650 660 LPGKSMSDTL PVSMTSPGKP SYCSCSLDTA AYPSSEDLDS VSRSEIALGC KDLNHVSLSS 670 680 690 700 710 720 LIPELDVTSE YINSDTLVRE INKHTSPEEY NLNLFLQEKK HINLTKLGLN VQKHPGNEKE 730 740 750 760 770 780 DSLQYLANKK YTQGRGSHSQ EMRYNRQNRW KRQNFHEFPP LFAFPSLSQT DLEELTYFFP 790 800 810 820 830 840 EDHAEDVQQE FFPSWPTPSG LTEYSTLTLC QETLANSSIG RLCLAFLGKR LDSVIEMCVK 850 860 870 880 890 900 DVLLKDDLSW AEAGVALLEN ECEKRIVEEG KYNTEEYGTS IEDILSVLKC PNLCSGNGQC 910 920 930 940 950 960 MEWGCACSPS FSSYDCSDSY DKAPEITELG NAGFCDVQKY NCMMVRVFGK GFKELPSIKC 970 980 990 1000 1010 1020 EVTKLQYNSS EWMPGEPIYT QTVFHNSRAV DCQLPTDVQQ FDTMDLVGGK PTGKWQLKVS 1030 1040 1050 1060 1070 1080 NDGYKFSNPK ITVIYDGACQ VCGLYKNDSC TIKENVCIID GLCYVEGDKN PTSPCLICRP 1090 1100 1110 1120 1130 1140 KISRFTWSFL ENNQPPVIQA LQDKLQTFYG ENFEYQFVAF DPEGSDIHFT LDSGPEGASV 1150 1160 1170 1180 1190 1200 SSAGLFMWKT DLLTTQQITV RLNDDCDAET RVTIEVTVKS CDCLNGGSCV SDRNFSPGSG 1210 1220 1230 1240 1250 1260 VYLCVCLPGF HGSLCEVDIS GCQSNPCGLG SYISGFHSYS CDCPPELKVE TQFVNQFTTQ 1270 1280 1290 1300 1310 1320 TVVLTRSDKS VNKEEDDKNA QGRKRHVKPT SGNAFTICKY PCGKSRECVA PNICKCKPGY 1330 1340 1350 1360 1370 1380 IGSNCQTALC DPDCKNHGKC IKPNICQCLP GHGGATCDEE HCNPPCQHGG TCLAGNLCTC 1390 1400 1410 1420 1430 1440 PYGFVGPRCE TMVCNRHCEN GGQCLTPDIC QCKPGWYGPT CSTALCDPVC LNGGSCNKPN 1450 1460 1470 1480 1490 1500 TCLCPNGFFG EHCQNAFCHP PCKNGGHCMR NNVCVCREGY TGRRFQKSIC DPTCMNGGKC 1510 1520 1530 1540 1550 1560 VGPSTCSCPS GWSGKRCNTP ICLQKCKNGG ECIAPSICHC PSSWEGVRCQ IPICNPKCLY 1570 1580 1590 GGRCIFPNVC SCRTEYSGVK CEKKIQIRRH

References

[1]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-342.
[4]	"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] OF 639-1590, VARIANTS LYS-1256 AND CYS-1485. Tissue: Teratocarcinoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC007321 Genomic DNA. No translation available. AC013470 Genomic DNA. No translation available. CH471073 Genomic DNA. Translation: EAW93644.1. Sequence problems. AK075525 mRNA. Translation: BAC11671.1. Sequence problems. AK027618 mRNA. Translation: BAB55237.1. Different initiation.
IPI	IPI00893951.
RefSeq	NP_001129396.1. NM_001135924.1.
UniGene	Hs.669526.
3D structure databases
ProteinModelPortal	Q8N2E2.
ModBase	Search...
PTM databases
PhosphoSite	Q8N2E2.
Polymorphism databases
DMDM	218512107.
Proteomic databases
PaxDb	Q8N2E2.
PRIDE	Q8N2E2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000275358; ENSP00000275358; ENSG00000146530. ENST00000326715; ENSP00000317143; ENSG00000146530.
GeneID	221806.
KEGG	hsa:221806.
UCSC	uc003ssj.2. human.
Organism-specific databases
CTD	221806.
GeneCards	GC07M012338.
H-InvDB	HIX0006489.
HGNC	HGNC:21897. VWDE.
HPA	HPA026619.
neXtProt	NX_Q8N2E2.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG287151.
HOGENOM	HOG000169576.
InParanoid	Q96SQ3.
OMA	GMSLTIR.
OrthoDB	EOG4X6C7F.
Gene expression databases
ArrayExpress	Q8N2E2.
Bgee	Q8N2E2.
CleanEx	HS_VWDE.
Genevestigator	Q8N2E2.
Family and domain databases
InterPro	IPR000742. EG-like_dom. IPR013032. EGF-like_CS. IPR001846. VWF_type-D. [Graphical view]
Pfam	PF12661. hEGF. 3 hits. PF00094. VWD. 1 hit. [Graphical view]
SMART	SM00181. EGF. 10 hits. SM00216. VWD. 1 hit. [Graphical view]
PROSITE	PS00022. EGF_1. 9 hits. PS01186. EGF_2. 6 hits. PS50026. EGF_3. 7 hits. PS51233. VWFD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	221806.
NextBio	91453.

Entry information

Entry name

VWDE_HUMAN

Accession

Primary (citable) accession number: Q8N2E2
Secondary accession number(s): Q96SQ3

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 5, 2011
Last modified:	May 1, 2013
This is version 72 of the entry and version 4 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.