ACTL8 actin like 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACTL8provided by HGNC
Official Full Name: actin like 8provided by HGNC
Primary source: HGNC:HGNC:24018
See related: Ensembl:ENSG00000117148 AllianceGenome:HGNC:24018
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: CT57
Summary: Involved in epithelial cell differentiation. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in actin filament; stress fiber; and striated muscle thin filament. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 4.2) See more
Orthologs: all
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Genomic context

Location:: 1p36.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (17755333..17827063)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (17570669..17642450)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (18081828..18153558)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

ACTL8 Promotes the Progression of Gastric Cancer Through PI3K/AKT/mTOR Signaling Pathway.
Title: ACTL8 Promotes the Progression of Gastric Cancer Through PI3K/AKT/mTOR Signaling Pathway.
Actin-like protein 8, a member of cancer/testis antigens, supports the aggressive development of oral squamous cell carcinoma cells via activating cell cycle signaling.
Title: Actin-like protein 8, a member of cancer/testis antigens, supports the aggressive development of oral squamous cell carcinoma cells via activating cell cycle signaling.
Actin-like protein 8 promotes cell proliferation, colony-formation, proangiogenesis, migration and invasion in lung adenocarcinoma cells.
Title: Actin-like protein 8 promotes cell proliferation, colony-formation, proangiogenesis, migration and invasion in lung adenocarcinoma cells.

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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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

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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Markers

SHGC-74298 (e-PCR)
- UniSTS:37954

SHGC-35351 (e-PCR)
- UniSTS:33736

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in skeletal muscle thin filament assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info
is_active_in striated muscle thin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: actin-like protein 8

Names: actin like protein; cancer/testis antigen 57

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.

mRNA and Protein(s)

NM_030812.3 → NP_110439.2 actin-like protein 8

See identical proteins and their annotated locations for NP_110439.2

Status: VALIDATED

Source sequence(s)

AK057339, BC028909, BI826094

Consensus CDS

CCDS183.1

UniProtKB/Swiss-Prot

Q13104, Q96M75, Q9H568

Related

ENSP00000364555.1, ENST00000375406.2

Conserved Domains (2) summary

smart00268
Location:4 → 363

ACTIN; Actin

cl17037
Location:7 → 362

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily