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

    Gene ID: 54942, updated on 27-Nov-2024

    Summary

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    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, Nov 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

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    See ABITRAM in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene actin like 7A Neighboring gene elongator acetyltransferase complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20160 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:111713956-111715155 Neighboring gene catenin alpha like 1 Neighboring gene uncharacterized LOC105376216 Neighboring gene RNA, 5.8S ribosomal pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:111774967-111775470 Neighboring gene transmembrane protein 245 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:111798078-111799277 Neighboring gene microRNA 32

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Simiate is an Actin binding protein involved in filopodia dynamics and arborization of neurons. Derlig K, et al. Front Cell Neurosci, 2014. PMID 24782708, Free PMC Article
    2. Identification and characterisation of Simiate, a novel protein linked to the fragile X syndrome. Derlig K, et al. PLoS One, 2013. PMID 24349419, Free PMC Article
    3. Systematic identification of hepatocellular proteins interacting with NS5A of the hepatitis C virus. Ahn J, et al. J Biochem Mol Biol, 2004 Nov 30. PMID 15607035
    4. Agrin has a pathological role in the progression of oral cancer. Rivera C, et al. Br J Cancer, 2018 Jun. PMID 29872149, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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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    Markers

    Homology

    Clone Names

    • FLJ20457

    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)

    1. 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

    2. 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, ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      108934400..108950744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      121103474..121119817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX38.1 GenPept UniProtKB/Swiss-Prot:Q9NX38

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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