QuickView for CASQ1 (gene)

Gene Symbol:

CASQ1 Homo sapiens

Full name:

calsequestrin 1

Synonyms:

CASQ, PDIB1, VMCQA, calsequestrin-1, calmitin, calmitine, calsequestrin 1 (fast-twitch, skeletal muscle), calsequestrin, skeletal muscle isoform

Genomic Location:

Chr 1: 158426989-158438300

Description:

This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in pat...

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This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

SP1_01 ,  MAZ_Q6 ,  TGGNNNNNNKCCAR_UNKNOWN ,  RSRFC4_01 ,  YTATTTTNR_MEF2_02 ,  RSRFC4_Q2 ,  CTTTGA_LEF1_Q2 ,  CTAWWWATA_RSRFC4_Q2 ,  GGGAGGRR_MAZ_Q6 ,  MEF2_02 ,  CEBPB_01 ,  CAGGTG_E12_Q6 ,  YY1_01 ,  MYOD_Q6 ,  GGGCGGR_SP1_Q6 ,  MYOGENIN_Q6 ,  MEF2_03 ,  SRF_Q5_01 ,  MMEF2_Q6 ,  MEF2_Q6_01

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Cytogenetic Map:

1q23.2

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