QuickView for OBSCN (gene)

Gene Symbol:

OBSCN Homo sapiens

Full name:

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Synonyms:

ARHGEF30, UNC89, obscurin, obscurin, myosin light chain kinase, obscurin-MLCK

Genomic Location:

Chr 1: 226462484-226633198

Description:

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacr...

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The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

PR_Q2 ,  TGIF_01 ,  YTATTTTNR_MEF2_02 ,  AP2GAMMA_01 ,  TGACCTY_ERR1_Q2 ,  HNF4_01 ,  CDPCR3HD_01 ,  LFA1_Q6 ,  AP4_Q6 ,  GGGCGGR_SP1_Q6 ,  PTF1BETA_Q6 ,  RNGTGGGC_UNKNOWN ,  HMGIY_Q6 ,  COUP_DR1_Q6 ,  T3R_Q6 ,  TGACAGNY_MEIS1_01 ,  CAGCTG_AP4_Q5 ,  AP4_Q5 ,  PPAR_DR1_Q2 ,  ERR1_Q2 ,  DR4_Q2 ,  HNF4_01_B ,  STAT5A_02

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Cytogenetic Map:

1q42.13

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