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    AFAP1L1 actin filament associated protein 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 134265, updated on 5-Mar-2024

    Summary

    Official Symbol
    AFAP1L1provided by HGNC
    Official Full Name
    actin filament associated protein 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:26714
    See related
    Ensembl:ENSG00000157510 MIM:614410; AllianceGenome:HGNC:26714
    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
    Summary
    Predicted to enable SH3 domain binding activity. Predicted to be located in cell junction; cell projection; and podosome. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in fat (RPKM 15.5), placenta (RPKM 9.5) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AFAP1L1 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149271859..149343637)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (149806678..149878469)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (148651422..148723200)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148521477-148521978 Neighboring gene uncharacterized LOC124901102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148521979-148522478 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82053 Neighboring gene actin binding LIM protein family member 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:148566792-148567991 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148651401-148651940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148651941-148652482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148652483-148653022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:148668739-148669240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148696780-148697334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148697335-148697887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148701677-148702203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148702204-148702729 Neighboring gene uncharacterized LOC124901103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:148724745-148725370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:148725371-148725994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148726519-148727019 Neighboring gene GRPEL2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 10017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16496 Neighboring gene Sharpr-MPRA regulatory region 12528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148746417-148747281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148747282-148748145 Neighboring gene GrpE like 2, mitochondrial Neighboring gene prenylcysteine oxidase 1 like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36748, MGC149773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    actin filament-associated protein 1-like 1
    Names
    AFAP1-like protein 1

    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_001146337.3NP_001139809.1  actin filament-associated protein 1-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001139809.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC131025, AK074185, BC125093, BC125094, BX107758, DA792192
      Consensus CDS
      CCDS54932.1
      UniProtKB/Swiss-Prot
      Q8TED9
      Related
      ENSP00000424427.1, ENST00000515000.1
      Conserved Domains (3) summary
      cd13306
      Location:210316
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:419518
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:226316
      PH; PH domain
    2. NM_001323062.2NP_001309991.1  actin filament-associated protein 1-like 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC131025, AK074185, BC125093, BX107758, DA792192
      UniProtKB/Swiss-Prot
      Q8TED9
      Conserved Domains (3) summary
      cd13306
      Location:177283
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:386485
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:193283
      PH; PH domain
    3. NM_001323063.2NP_001309992.1  actin filament-associated protein 1-like 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC131025, BC040723, DA792192
      UniProtKB/Swiss-Prot
      Q8TED9
      Related
      ENST00000455574.6
      Conserved Domains (2) summary
      cd13306
      Location:210316
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      pfam00169
      Location:226316
      PH; PH domain
    4. NM_152406.4NP_689619.1  actin filament-associated protein 1-like 1 isoform 1

      See identical proteins and their annotated locations for NP_689619.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC131025, AK074185, BC125093, BX107758, DA792192
      Consensus CDS
      CCDS34274.1
      UniProtKB/Swiss-Prot
      Q08AN4, Q08AN5, Q8IW82, Q8N8Z5, Q8N9Q4, Q8TED9
      Related
      ENSP00000296721.4, ENST00000296721.9
      Conserved Domains (2) summary
      cd13306
      Location:210316
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:419518
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      149271859..149343637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416723.1XP_047272679.1  actin filament-associated protein 1-like 1 isoform X1

    2. XM_011537558.3XP_011535860.1  actin filament-associated protein 1-like 1 isoform X2

      Conserved Domains (3) summary
      cd13306
      Location:70176
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:279378
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:86176
      PH; PH domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      149806678..149878469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351623.1XP_054207598.1  actin filament-associated protein 1-like 1 isoform X1

    2. XM_054351624.1XP_054207599.1  actin filament-associated protein 1-like 1 isoform X2