ABITRAM actin binding transcription modulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABITRAMprovided by HGNC
Official Full Name: actin binding transcription modulatorprovided by HGNC
Primary source: HGNC:HGNC:1364
See related: Ensembl:ENSG00000119328 MIM:620392; AllianceGenome:HGNC:1364
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: CG-8; C9orf6; FAM206A; Simiate
Summary: Predicted to enable actin filament binding activity and actin monomer binding activity. Predicted to be involved in dendrite morphogenesis; regulation of actin filament polymerization; and regulation of filopodium assembly. Predicted to be located in growth cone. Predicted to be active in several cellular components, including dendrite; filopodium tip; and lamellipodium. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 9.4), thyroid (RPKM 9.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (108934400..108950744)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (121103474..121119817)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (111696680..111713024)

Chromosome 9 - NC_000009.12 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin monomer binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin monomer 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 dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
is_active_in filopodium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in filopodium tip	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein Abitram

Names: family with sequence similarity 206 member A; protein FAM206A; protein Simiate

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_001410990.1 → NP_001397919.1 protein Abitram isoform 2

Status: VALIDATED

Source sequence(s)

AL354797

Consensus CDS

CCDS94453.1

UniProtKB/TrEMBL

X6R8U7

Related

ENSP00000363754.3, ENST00000374624.7
NM_017832.4 → NP_060302.1 protein Abitram isoform 1

See identical proteins and their annotated locations for NP_060302.1

Status: VALIDATED

Source sequence(s)

AK000464, BC015795

Consensus CDS

CCDS6774.1

UniProtKB/Swiss-Prot

Q5JTR0, Q5JTR1, Q9NX38

Related

ENSP00000363753.3, ENST00000322940.11

Conserved Domains (1) summary

cl11404
Location:115 → 171

Biotinyl_lipoyl_domains; Biotinyl_lipoyl_domains are present in biotin-dependent carboxylases/decarboxylases, the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases, and the H-protein of the glycine cleavage system (GCS). These domains transport CO2, acyl, ...