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    AFAP1 actin filament associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 60312, updated on 5-Nov-2017
    Official Symbol
    AFAP1provided by HGNC
    Official Full Name
    actin filament associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:24017
    See related
    Ensembl:ENSG00000196526 MIM:608252; Vega:OTTHUMG00000125515
    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
    AFAP; AFAP110; AFAP-110
    Summary
    The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
    Orthologs
    Location:
    4p16.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (7758713..7939926, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (7760440..7941653, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sortilin related VPS10 domain containing receptor 2 Neighboring gene microRNA 4274 Neighboring gene uncharacterized LOC107986258 Neighboring gene AFAP1 antisense RNA 1 Neighboring gene uncharacterized LOC389199 Neighboring gene uncharacterized LOC107986259 Neighboring gene actin binding LIM protein family member 2 Neighboring gene microRNA 95

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ56849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    regulation of cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    actin filament-associated protein 1
    Names
    110 kDa actin filament-associated protein
    actin filament-associated protein, 110 kDa

    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_001134647.1NP_001128119.1  actin filament-associated protein 1 isoform A

      See identical proteins and their annotated locations for NP_001128119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AC004169, AC112254, AK127962, AK290807, AK297631, BI561136, CA448961, DB450895
      Consensus CDS
      CCDS47010.1
      UniProtKB/Swiss-Prot
      Q8N556
      UniProtKB/TrEMBL
      Q6ZRV0
      Related
      ENSP00000410689.1, ENST00000420658.5
      Conserved Domains (3) summary
      cd13306
      Location:143249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:155247
      PH; PH domain
    2. NM_198595.2NP_940997.1  actin filament-associated protein 1 isoform B

      See identical proteins and their annotated locations for NP_940997.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 3' coding region, compared to variant A. Variant 2 encodes a shorter protein (isoform B), compared to isoform A.
      Source sequence(s)
      AC004169, AF188700, BC032777, CA448961, DA605903, DB450895
      Consensus CDS
      CCDS3397.1
      UniProtKB/Swiss-Prot
      Q8N556
      Related
      ENSP00000351245.2, ENST00000358461.6
      Conserved Domains (3) summary
      cd13306
      Location:143249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:155247
      PH; PH domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      7758713..7939926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713909.3XP_006713972.1  actin filament-associated protein 1 isoform X3

      Conserved Domains (3) summary
      cd13306
      Location:164270
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:368468
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:176268
      PH; PH domain
    2. XM_011513544.2XP_011511846.1  actin filament-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011511846.1

      UniProtKB/Swiss-Prot
      Q8N556
      Conserved Domains (3) summary
      cd13306
      Location:143249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:155247
      PH; PH domain
    3. XM_017008535.1XP_016864024.1  actin filament-associated protein 1 isoform X2

    4. XM_017008536.1XP_016864025.1  actin filament-associated protein 1 isoform X4

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      7758814..7939654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021638.4: Suppressed sequence

      Description
      NM_021638.4: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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