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

    Gene ID: 134265, updated on 2-Nov-2024

    Summary

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    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 several cellular components, including actin cytoskeleton; anchoring junction; and cell projection. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 15.5), placenta (RPKM 9.5) and 18 other tissues See more
    Orthologs
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    Genomic context

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    See AFAP1L1 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149271859..149343637)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (149806678..149878469)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hypoxia-induced AFAP1L1 regulates pathological neovascularization via the YAP-DLL4-NOTCH axis.
      Title: Hypoxia-induced AFAP1L1 regulates pathological neovascularization via the YAP-DLL4-NOTCH axis.
    2. AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway.
      Title: AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway.
    3. AFAP1L1 promotes cell proliferation, accelerates cell cycle progression, and prevents cell apoptosis in lung cancer cells.
      Title: Actin Filament-Associated Protein 1-Like 1 Mediates Proliferation and Survival in Non-Small Cell Lung Cancer Cells.
    4. data define a novel pathway that directs Lyn/Src family tyrosine kinase signals to sarcoma cell invadopodia through specific recruitment of Vav2 and Nck2 to phosphorylated AFAP1L1, to control cell migration and invasion
      Title: Regulation of sarcoma cell migration, invasion and invadopodia formation by AFAP1L1 through a phosphotyrosine-dependent pathway.
    5. AFAP1L1 plays a role in the progression of colorectal cancer by modulating cell shape and motility and by inhibiting anoikis, presumably through interactions with vinculin-including protein complexes.
      Title: AFAP1L1, a novel associating partner with vinculin, modulates cellular morphology and motility, and promotes the progression of colorectal cancers.
    6. Findings indicate a role for transcription factor Sp3 in sarcomas as a driver for expression of the metastasis-related gene AFAP1L1 (actin filament-associated protein 1-like 1).
      Title: The transcription factor Sp3 regulates the expression of a metastasis-related marker of sarcoma, actin filament-associated protein 1-like 1 (AFAP1L1).
    7. AFAP1L1 has a role in the progression of spindle cell sarcomas and is a prognostic biomarker.
      Title: Identification of AFAP1L1 as a prognostic marker for spindle cell sarcomas.
    8. Data suggest that AFAP1L1 may forge unique protein interactions in which AFAP1 is less efficient, and these interactions may allow AFAP1L1 to affect invadosome formation.
      Title: AFAP1L1 is a novel adaptor protein of the AFAP family that interacts with cortactin and localizes to invadosomes.
    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

    EBI GWAS Catalog

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

    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

    • FLJ36748, MGC149773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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

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

    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_001146337.3 → NP_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:210 → 316
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:419 → 518
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:226 → 316
      PH; PH domain

    2. NM_001323062.2 → NP_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:177 → 283
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:386 → 485
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:193 → 283
      PH; PH domain

    3. NM_001323063.2 → NP_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:210 → 316
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      pfam00169
      Location:226 → 316
      PH; PH domain

    4. NM_152406.4 → NP_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:210 → 316
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:419 → 518
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

    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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

      Conserved Domains (3) summary
      cd13306
      Location:70 → 176
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:279 → 378
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:86 → 176
      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_054351623.1 → XP_054207598.1  actin filament-associated protein 1-like 1 isoform X1

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TED9.2 GenPept UniProtKB/Swiss-Prot:Q8TED9

    Gene LinkOut

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

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