ACTL7B

GENE INFORMATION

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Gene name

ACTL7B (HGNC Symbol)

Synonyms

Tact1

Description

Actin-like 7B (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Chromosome

9

Cytoband

q31.3

Chromosome location (bp)

108854589 - 108856967

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000148156 (version 78.38)

Entrez gene

10880

UniProt

Q9Y614 (UniProt - Evidence at transcript level)

neXtProt

NX_Q9Y614

Antibodypedia

ACTL7B antibodies
 

PROTEIN VIEW

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ACTL7B-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACTL7B-001 ENSP00000363799
ENST00000374667
Q9Y614
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