ACTL7A

GENERAL INFORMATION

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Gene name

ACTL7A

Gene description

Actin-like 7A

Protein class

Cytoskeleton related proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (testis)
GTEx:Tissue enriched (testis)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in spermatozoa.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded. Pending external verification.

Data reliability

Supportive based on 1 antibody.
HPA021624
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Epididymis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression



GENE INFORMATION

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Gene name

ACTL7A

Synonyms

Description

Actin-like 7A (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 (ACTL7A), and related gene, ACTL7B, 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 ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Chromosome

9

Cytoband

q31.3

Chromosome location (bp)

108862266 - 108863759

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187003 (version 78.38)

Entrez gene

10881

UniProt

Q9Y615 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y615

Antibodypedia

ACTL7A antibodies


PROTEIN BROWSER

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ENST00000333999
 
 
 
 


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)

ACTL7A-001 ENSP00000334300
ENST00000333999
Q9Y615
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