VWA1 | ENSG00000179403 | NCBI 64856

Details for: VWA1

Gene ID: 64856

Symbol: VWA1

Ensembl ID: ENSG00000179403

Description: von Willebrand factor A domain containing 1

Associated with

Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Post-translational protein phosphorylation
(R-HSA-8957275)
Regulation of insulin-like growth factor (igf) transport and uptake by insulin-like growth factor binding proteins (igfbps)
(R-HSA-381426)
Basement membrane
(GO:0005604)
Behavioral response to pain
(GO:0048266)
Collagen-containing extracellular matrix
(GO:0062023)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular exosome
(GO:0070062)
Extracellular matrix organization
(GO:0030198)
Extracellular matrix structural constituent
(GO:0005201)
Extracellular space
(GO:0005615)
Interstitial matrix
(GO:0005614)
Microfibril binding
(GO:0050436)
Protein homodimerization activity
(GO:0042803)
Protein homooligomerization
(GO:0051260)

Other Information

Proteins

VWA1_HUMAN

Genular Protein ID: 18210132

Symbol: VWA1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6PCB0 A8K692 B3KUA1 E9PB53 Q7L5D7 Q9H6J5

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 26091039

Title: A single kinase generates the majority of the secreted phosphoproteome.

PubMed ID: 26091039

DOI: 10.1016/j.cell.2015.05.028

PubMed ID: 33459760

Title: Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

PubMed ID: 33459760

DOI: 10.1093/brain/awaa418

PubMed ID: 33559681

Title: An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

PubMed ID: 33559681

DOI: 10.1093/brain/awaa420

Sequence Information:

Length: 445
Mass: 46804
Checksum: D9FBDE9C0A4DEBDF
Sequence:

MLPWTALGLA LSLRLALARS GAERGPPASA PRGDLMFLLD SSASVSHYEF SRVREFVGQL 
VAPLPLGTGA LRASLVHVGS RPYTEFPFGQ HSSGEAAQDA VRASAQRMGD THTGLALVYA 
KEQLFAEASG ARPGVPKVLV WVTDGGSSDP VGPPMQELKD LGVTVFIVST GRGNFLELSA 
AASAPAEKHL HFVDVDDLHI IVQELRGSIL DAMRPQQLHA TEITSSGFRL AWPPLLTADS 
GYYVLELVPS AQPGAARRQQ LPGNATDWIW AGLDPDTDYD VALVPESNVR LLRPQILRVR 
TRPGEAGPGA SGPESGAGPA PTQLAALPAP EEAGPERIVI SHARPRSLRV SWAPALGSAA 
ALGYHVQFGP LRGGEAQRVE VPAGRNCTTL QGLAPGTAYL VTVTAAFRSG RESALSAKAC 
TPDGPRPRPR PVPRAPTPGT ASREP

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: VWA1

Associated with

Other Information

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

A single kinase generates the majority of the secreted phosphoproteome. PubMed ID: 26091039

Bi-allelic truncating mutations in VWA1 cause neuromyopathy. PubMed ID: 33459760