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Q8N2E2

- VWDE_HUMAN

UniProt

Q8N2E2 - VWDE_HUMAN

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Protein
von Willebrand factor D and EGF domain-containing protein
Gene
VWDE
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor D and EGF domain-containing protein
Gene namesi
Name:VWDE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:21897. VWDE.

Subcellular locationi

Secreted Reviewed prediction

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Secreted

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020 Reviewed prediction
Add
BLAST
Chaini21 – 15901570von Willebrand factor D and EGF domain-containing protein
PRO_0000329441Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi367 – 3671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi703 – 7031N-linked (GlcNAc...) Reviewed prediction
Glycosylationi968 – 9681N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1181 ↔ 1189 By similarity
Disulfide bondi1183 ↔ 1204 By similarity
Disulfide bondi1206 ↔ 1215 By similarity
Disulfide bondi1298 ↔ 1308 By similarity
Disulfide bondi1302 ↔ 1314 By similarity
Disulfide bondi1316 ↔ 1325 By similarity
Disulfide bondi1362 ↔ 1372 By similarity
Disulfide bondi1366 ↔ 1378 By similarity
Disulfide bondi1380 ↔ 1389 By similarity
Disulfide bondi1426 ↔ 1436 By similarity
Disulfide bondi1430 ↔ 1442 By similarity
Disulfide bondi1444 ↔ 1453 By similarity
Disulfide bondi1458 ↔ 1468 By similarity
Disulfide bondi1462 ↔ 1474 By similarity
Disulfide bondi1522 ↔ 1532 By similarity
Disulfide bondi1526 ↔ 1538 By similarity
Disulfide bondi1540 ↔ 1549 By similarity
Disulfide bondi1554 ↔ 1564 By similarity
Disulfide bondi1558 ↔ 1570 By similarity
Disulfide bondi1572 ↔ 1581 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ8N2E2.
PaxDbiQ8N2E2.
PRIDEiQ8N2E2.

PTM databases

PhosphoSiteiQ8N2E2.

Expressioni

Gene expression databases

ArrayExpressiQ8N2E2.
BgeeiQ8N2E2.
CleanExiHS_VWDE.
GenevestigatoriQ8N2E2.

Organism-specific databases

HPAiHPA026619.
HPA036044.

Interactioni

Protein-protein interaction databases

BioGridi128755. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ8N2E2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini424 – 641218VWFD
Add
BLAST
Domaini1177 – 121640EGF-like 1
Add
BLAST
Domaini1294 – 132633EGF-like 2
Add
BLAST
Domaini1358 – 139033EGF-like 3
Add
BLAST
Domaini1422 – 145433EGF-like 4
Add
BLAST
Domaini1455 – 148632EGF-like 5
Add
BLAST
Domaini1518 – 155033EGF-like 6
Add
BLAST
Domaini1551 – 158232EGF-like 7
Add
BLAST

Sequence similaritiesi

Contains 7 EGF-like domains.
Contains 1 VWFD domain.

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG287151.
HOGENOMiHOG000169576.
InParanoidiQ96SQ3.
OMAiAICRHPC.
OrthoDBiEOG7GXP9M.
PhylomeDBiQ8N2E2.
TreeFamiTF351702.

Family and domain databases

InterProiIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR001846. VWF_type-D.
[Graphical view]
PfamiPF12661. hEGF. 3 hits.
PF00094. VWD. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 10 hits.
SM00216. VWD. 1 hit.
[Graphical view]
PROSITEiPS00022. EGF_1. 9 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 7 hits.
PS51233. VWFD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N2E2-1) [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

MPGGACVLVI ALMFLAWGEA QECSPGGHQF LRSPYRSVRF DSWHLQQSAV     50
QDLICDHSLS PGWYRFLILD RPAEMPTKCV EMNHCGTQAP IWLSLRDSET 100
LPSPGEIKQL TACATWQFLF STTKDCCLFQ IPVSVRNCGN FSVYLLQPTQ 150
GCMGYCAEAI SDARLHPCGS DETETGGDCV RQLAASLPPP PAGRPEVLVE 200
LIESRLFCRC SFDVPATKNS VGFHIAWSRL SSQEVKEELT QETTVQAFSL 250
LELDGINLRL GDRIFCSASV FFLENPHVQS VAIESQEFFA GFKLQPELST 300
ISEDGKEYYL RIESTVPIIC SEFSELDQEC KISLKLKTIG QGREHLGLNL 350
ALSSCHVDLL QTSSCANGTC SHTFVYYTAV TDFSRDGDRV SNIVVQPIVN 400
EDFLWNNYIP DSIQIKVKDV PTAYCYTFTD PHIITFDGRV YDNFKTGTFV 450
LYKSMSRDFE VHVRQWDCRS LHYPVSCNCG FVAQEGGDIV TFDMCNGQLR 500
ESQPYLFIKS QDVTRNIKIS ESYLGRKVTI WFSSGAFIRA DLGEWGMSLT 550
IRAPSVDYRN TLGLCGTFDE NPENDFHDKN GMQIDQNFNN YVAFINEWRI 600
LPGKSMSDTL PVSMTSPGKP SYCSCSLDTA AYPSSEDLDS VSRSEIALGC 650
KDLNHVSLSS LIPELDVTSE YINSDTLVRE INKHTSPEEY NLNLFLQEKK 700
HINLTKLGLN VQKHPGNEKE DSLQYLANKK YTQGRGSHSQ EMRYNRQNRW 750
KRQNFHEFPP LFAFPSLSQT DLEELTYFFP EDHAEDVQQE FFPSWPTPSG 800
LTEYSTLTLC QETLANSSIG RLCLAFLGKR LDSVIEMCVK DVLLKDDLSW 850
AEAGVALLEN ECEKRIVEEG KYNTEEYGTS IEDILSVLKC PNLCSGNGQC 900
MEWGCACSPS FSSYDCSDSY DKAPEITELG NAGFCDVQKY NCMMVRVFGK 950
GFKELPSIKC EVTKLQYNSS EWMPGEPIYT QTVFHNSRAV DCQLPTDVQQ 1000
FDTMDLVGGK PTGKWQLKVS NDGYKFSNPK ITVIYDGACQ VCGLYKNDSC 1050
TIKENVCIID GLCYVEGDKN PTSPCLICRP KISRFTWSFL ENNQPPVIQA 1100
LQDKLQTFYG ENFEYQFVAF DPEGSDIHFT LDSGPEGASV SSAGLFMWKT 1150
DLLTTQQITV RLNDDCDAET RVTIEVTVKS CDCLNGGSCV SDRNFSPGSG 1200
VYLCVCLPGF HGSLCEVDIS GCQSNPCGLG SYISGFHSYS CDCPPELKVE 1250
TQFVNQFTTQ TVVLTRSDKS VNKEEDDKNA QGRKRHVKPT SGNAFTICKY 1300
PCGKSRECVA PNICKCKPGY IGSNCQTALC DPDCKNHGKC IKPNICQCLP 1350
GHGGATCDEE HCNPPCQHGG TCLAGNLCTC PYGFVGPRCE TMVCNRHCEN 1400
GGQCLTPDIC QCKPGWYGPT CSTALCDPVC LNGGSCNKPN TCLCPNGFFG 1450
EHCQNAFCHP PCKNGGHCMR NNVCVCREGY TGRRFQKSIC DPTCMNGGKC 1500
VGPSTCSCPS GWSGKRCNTP ICLQKCKNGG ECIAPSICHC PSSWEGVRCQ 1550
IPICNPKCLY GGRCIFPNVC SCRTEYSGVK CEKKIQIRRH 1590
Length:1,590
Mass (Da):176,780
Last modified:April 5, 2011 - v4
Checksum:i58BAB222EE4D3F04
GO
Isoform 2 (identifier: Q8N2E2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-546: Missing.

Note: No experimental confirmation available.

Show »
Length:1,044
Mass (Da):115,545
Checksum:i706614BB6759EA78
GO

Sequence cautioni

The sequence BAC11671.1 differs from that shown. Reason: Intron retention.
The sequence AAI44320.1 differs from that shown. Reason: Frameshift at position 1487.
The sequence BAB55237.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence EAW93644.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti607 – 6071S → F.
Corresponds to variant rs963323 [ dbSNP | Ensembl ].
VAR_071061
Natural varianti964 – 9641K → N.
Corresponds to variant rs6460939 [ dbSNP | Ensembl ].
VAR_047871
Natural varianti1032 – 10321T → M.
Corresponds to variant rs2053380 [ dbSNP | Ensembl ].
VAR_047872
Natural varianti1256 – 12561Q → K.1 Publication
Corresponds to variant rs6967385 [ dbSNP | Ensembl ].
VAR_047873
Natural varianti1485 – 14851F → C.1 Publication
Corresponds to variant rs2192828 [ dbSNP | Ensembl ].
VAR_047874

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 546546Missing in isoform 2.
VSP_055465Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1078 – 10781C → F in AAI44320. 1 Publication
Sequence conflicti1106 – 11061Q → L in BAB55237. 1 Publication
Sequence conflicti1371 – 13711T → I in BAB55237. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC007321 Genomic DNA. No translation available.
AC013470 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW93644.1. Sequence problems.
BC144319 mRNA. Translation: AAI44320.1. Frameshift.
AK075525 mRNA. Translation: BAC11671.1. Sequence problems.
AK027618 mRNA. Translation: BAB55237.1. Different initiation.
CCDSiCCDS47544.1.
RefSeqiNP_001129396.1. NM_001135924.1.
UniGeneiHs.669526.

Genome annotation databases

EnsembliENST00000275358; ENSP00000275358; ENSG00000146530.
ENST00000326715; ENSP00000317143; ENSG00000146530.
GeneIDi221806.
KEGGihsa:221806.
UCSCiuc003ssj.2. human.

Polymorphism databases

DMDMi327478608.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC007321 Genomic DNA. No translation available.
AC013470 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW93644.1 . Sequence problems.
BC144319 mRNA. Translation: AAI44320.1 . Frameshift.
AK075525 mRNA. Translation: BAC11671.1 . Sequence problems.
AK027618 mRNA. Translation: BAB55237.1 . Different initiation.
CCDSi CCDS47544.1.
RefSeqi NP_001129396.1. NM_001135924.1.
UniGenei Hs.669526.

3D structure databases

ProteinModelPortali Q8N2E2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128755. 1 interaction.

PTM databases

PhosphoSitei Q8N2E2.

Polymorphism databases

DMDMi 327478608.

Proteomic databases

MaxQBi Q8N2E2.
PaxDbi Q8N2E2.
PRIDEi Q8N2E2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000275358 ; ENSP00000275358 ; ENSG00000146530 .
ENST00000326715 ; ENSP00000317143 ; ENSG00000146530 .
GeneIDi 221806.
KEGGi hsa:221806.
UCSCi uc003ssj.2. human.

Organism-specific databases

CTDi 221806.
GeneCardsi GC07M012338.
H-InvDB HIX0006489.
HGNCi HGNC:21897. VWDE.
HPAi HPA026619.
HPA036044.
neXtProti NX_Q8N2E2.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287151.
HOGENOMi HOG000169576.
InParanoidi Q96SQ3.
OMAi AICRHPC.
OrthoDBi EOG7GXP9M.
PhylomeDBi Q8N2E2.
TreeFami TF351702.

Miscellaneous databases

GenomeRNAii 221806.
NextBioi 91453.
PROi Q8N2E2.

Gene expression databases

ArrayExpressi Q8N2E2.
Bgeei Q8N2E2.
CleanExi HS_VWDE.
Genevestigatori Q8N2E2.

Family and domain databases

InterProi IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR001846. VWF_type-D.
[Graphical view ]
Pfami PF12661. hEGF. 3 hits.
PF00094. VWD. 1 hit.
[Graphical view ]
SMARTi SM00181. EGF. 10 hits.
SM00216. VWD. 1 hit.
[Graphical view ]
PROSITEi PS00022. EGF_1. 9 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 7 hits.
PS51233. VWFD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 2), VARIANTS PHE-607; ASN-964 AND MET-1032.
  4. "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 (ISOFORM 1).
  5. "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 (ISOFORM 1), VARIANTS LYS-1256 AND CYS-1485.
    Tissue: Teratocarcinoma.

Entry informationi

Entry nameiVWDE_HUMAN
AccessioniPrimary (citable) accession number: Q8N2E2
Secondary accession number(s): B7ZM77, Q96SQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 5, 2011
Last modified: September 3, 2014
This is version 80 of the entry and version 4 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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