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ACTL7B actin like 7B [ Homo sapiens (human) ]

Gene ID: 10880, updated on 5-Aug-2018

Summary

Official Symbol
ACTL7Bprovided by HGNC
Official Full Name
actin like 7Bprovided by HGNC
Primary source
HGNC:HGNC:162
See related
Ensembl:ENSG00000148156 MIM:604304; Vega:OTTHUMG00000020462
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Tact1
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]
Orthologs

Genomic context

See ACTL7B in Genome Data Viewer
Location:
9q31.3
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (108854588..108855995, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111616868..111618275, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 35 Neighboring gene ATP synthase membrane subunit f pseudogene Neighboring gene actin like 7A Neighboring gene elongator complex protein 1

Genomic regions, transcripts, and products

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
NHGRI GWA Catalog
The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
actin-like protein 7B
Names
actin-like 7-beta
testis tissue sperm-binding protein Li 43a

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_006686.3NP_006677.1  actin-like protein 7B

    See identical proteins and their annotated locations for NP_006677.1

    Status: REVIEWED

    Source sequence(s)
    AI150021, AK313871, BC033789, DB021848
    Consensus CDS
    CCDS6771.1
    UniProtKB/Swiss-Prot
    Q9Y614
    UniProtKB/TrEMBL
    A0A140VKC6
    Related
    ENSP00000363799.3, OTTHUMP00000021867, ENST00000374667.4, OTTHUMT00000053571
    Conserved Domains (1) summary
    cl17037
    Location:51415
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    108854588..108855995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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