QuickView for BAP31 (gene)

Gene Symbol:

BCAP31 Homo sapiens

Full name:

B cell receptor associated protein 31

Synonyms:

6C6-AG, BAP31, CDM, DDCH, DXS1357E, B-cell receptor-associated protein 31, 6C6-AG tumor-associated antigen, BCR-associated protein Bap31, p28 Bap31

Genomic Location:

Chr X: 152619146-152643081

Description:

This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene ar...

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This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  RFX1_01 ,  RGAANNTTC_HSF1_01 ,  HSF1_01 ,  GGGCGGR_SP1_Q6 ,  HSF2_01 ,  GTGGGTGK_UNKNOWN ,  AACTTT_UNKNOWN ,  GGGTGGRR_PAX4_03

Cytogenetic Map:

Xq28

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