U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Afap1 actin filament associated protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 70292, updated on 3-Dec-2024

    Summary

    Official Symbol
    Afap1provided by MGI
    Official Full Name
    actin filament associated protein 1provided by MGI
    Primary source
    MGI:MGI:1917542
    See related
    Ensembl:ENSMUSG00000029094 AllianceGenome:MGI:1917542
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Afap; mKIAA3018; 2600003E23Rik; 9630044L16Rik
    Summary
    Predicted to enable SH2 domain binding activity and SH3 domain binding activity. Predicted to be involved in regulation of signal transduction. Predicted to be located in actin cytoskeleton and focal adhesion. Predicted to be active in actin filament and cytosol. Is expressed in cerebral cortex subventricular zone; cerebral cortex ventricular layer; and dentate gyrus subgranular zone. Human ortholog(s) of this gene implicated in open-angle glaucoma. Orthologous to human AFAP1 (actin filament associated protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 12.9), whole brain E14.5 (RPKM 12.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Afap1 in Genome Data Viewer
    Location:
    5 B3; 5 19.02 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (36050713..36161267)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (35893319..36003923)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene SH3 domain and tetratricopeptide repeats 1 Neighboring gene STARR-positive B cell enhancer ABC_E8820 Neighboring gene predicted gene, 31888 Neighboring gene actin-binding LIM protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E8050 Neighboring gene H2A histone family, pseudogene 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:36316611-36316857 Neighboring gene STARR-positive B cell enhancer mm9_chr5:36376513-36376814 Neighboring gene sortilin-related VPS10 domain containing receptor 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:36431991-36432296 Neighboring gene predicted gene, 52811 Neighboring gene STARR-positive B cell enhancer mm9_chr5:36487276-36487576 Neighboring gene predicted gene, 52810

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH2 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    actin filament-associated protein 1
    Names
    110 kDa actin filament-associated protein
    AFAP-110

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001403419.1NP_001390348.1  actin filament-associated protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC127275, AC141898
    2. NM_001403420.1NP_001390349.1  actin filament-associated protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC127275, AC141898
    3. NM_001403421.1NP_001390350.1  actin filament-associated protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC127275, AC141898
      UniProtKB/TrEMBL
      E9Q8X9
    4. NM_027373.3NP_081649.1  actin filament-associated protein 1 isoform 2

      See identical proteins and their annotated locations for NP_081649.1

      Status: VALIDATED

      Source sequence(s)
      AC127275, AC141898
      Consensus CDS
      CCDS19236.1
      UniProtKB/Swiss-Prot
      Q3UGX1, Q6ZPE4, Q80YS6
      UniProtKB/TrEMBL
      E9Q8X9
      Related
      ENSMUSP00000067779.5, ENSMUST00000064571.11
      Conserved Domains (4) summary
      cd13306
      Location:142248
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:348448
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:154246
      PH; PH domain
      pfam10211
      Location:546618
      Ax_dynein_light; Axonemal dynein light chain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      36050713..36161267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)