ABRA actin binding Rho activating protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABRAprovided by HGNC
Official Full Name: actin binding Rho activating proteinprovided by HGNC
Primary source: HGNC:HGNC:30655
See related: Ensembl:ENSG00000174429 MIM:609747; AllianceGenome:HGNC:30655
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STARS
Summary: Predicted to enable actin binding activity. Predicted to be involved in positive regulation of DNA-binding transcription factor activity; positive regulation of Rho protein signal transduction; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription, DNA-templated and protein import into nucleus. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart (RPKM 6.8), esophagus (RPKM 1.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q23.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (106759483..106770244, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (107887295..107936923, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (107771711..107782472, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
Title: Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
STARS expression is acutely upregulated following exercise, but there is no cumulative effect to long-term training.
Title: Expression of striated activator of rho-signaling in human skeletal muscle following acute exercise and long-term training.
we established that miR-628-5p, a miRNA regulated by age and exercise, binds to the STARS 3'UTR to directly downregulate its transcription
Title: Striated muscle activator of Rho signalling (STARS) is reduced in ageing human skeletal muscle and targeted by miR-628-5p.
These results suggest a connection between Ca(2+)-signaling via excitation-contraction coupling and the regulation of STARS-mediated gene expression in muscles.
Title: Identification of striated muscle activator of Rho signaling (STARS) as a novel calmodulin target by a newly developed genome-wide screen.
These results show that resistance exercise provides an acute stimulation of the STARS pathway that is contraction mode dependent.
Title: Effect of resistance exercise contraction mode and protein supplementation on members of the STARS signalling pathway.
STARS signalling pathway is upregulated in response to acute endurance exercise and suggest suggest a novel role co-ordination of PGC-1alpha-induced upregulation of the fat oxidative gene, CPT-1beta.
Title: Striated muscle activator of Rho signalling (STARS) is a PGC-1α/oestrogen-related receptor-α target gene and is upregulated in human skeletal muscle after endurance exercise.
STARS signalling pathway is responsive to changes in skeletal muscle loading and appears to play a role in both human skeletal muscle hypertrophy and atrophy
Title: Regulation of STARS and its downstream targets suggest a novel pathway involved in human skeletal muscle hypertrophy and atrophy.
STARS activates serum response factor by inducing the nuclear translocation of myocardin-related transcription factors .
Title: Muscle-specific signaling mechanism that links actin dynamics to serum response factor.
Modulates the responsiveness of the heart to stress signaling by functioning as a cytoskeletal intermediary between human and transgenic myocyte enhancer factor-2 and serum response factor.
Title: Modulation of adverse cardiac remodeling by STARS, a mediator of MEF2 signaling and SRF activity.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
is_active_in sarcomere	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcomere	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: actin-binding Rho-activating protein

Names: striated muscle activator of Rho-dependent signaling

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.