QuickView for CFTD1 (gene)

Gene Symbol:

ACTA1 Homo sapiens

Full name:

actin, alpha 1, skeletal muscle

Synonyms:

ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, SHPM, actin, alpha skeletal muscle, nemaline myopathy type 3

Genomic Location:

Chr 1: 227633615-227636466

Description:

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the...

View Full Description

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Bos taurus ,  Canis lupus familiaris ,  Danio rerio ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYOD_Q6_01 ,  TGGNNNNNNKCCAR_UNKNOWN ,  RSRFC4_01 ,  SRF_Q6 ,  GCANCTGNY_MYOD_Q6 ,  LXR_DR4_Q3 ,  AMEF2_Q6 ,  E2A_Q2 ,  CTAWWWATA_RSRFC4_Q2 ,  TATAAA_TATA_01 ,  AGCATTA_MIR155 ,  CAGGTA_AREB6_01 ,  TEF1_Q6 ,  CAGGTG_E12_Q6 ,  TTCYRGAA_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  AREB6_01 ,  SRF_Q4 ,  AREB6_03 ,  WGGAATGY_TEF1_Q6 ,  AP4_Q6_01 ,  MSX1_01 ,  TATA_01 ,  PAX5_01 ,  COUP_DR1_Q6 ,  SRF_Q5_01 ,  TBP_01 ,  CAGCTG_AP4_Q5 ,  MMEF2_Q6 ,  YNGTTNNNATT_UNKNOWN ,  DR4_Q2 ,  CCAWWNAAGG_SRF_Q4 ,  SRF_C ,  LBP1_Q6

View More

View Less

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for let-7 ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-155 ,  Predicted Gene Targets for miR-495

Cytogenetic Map:

1q42.13

search → result