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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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Related articles in PubMed

  1. Hypoxia-induced AFAP1L1 regulates pathological neovascularization via the YAP-DLL4-NOTCH axis. Ren JS, et al. J Transl Med, 2023 Sep 22. PMID 37737201, Free PMC Article
  2. AFAP1L1 is a novel adaptor protein of the AFAP family that interacts with cortactin and localizes to invadosomes. Snyder BN, et al. Eur J Cell Biol, 2011 May. PMID 21333378, Free PMC Article
  3. Identification of AFAP1L1 as a prognostic marker for spindle cell sarcomas. Furu M, et al. Oncogene, 2011 Sep 22. PMID 21516130
  4. AFAP1L1, a novel associating partner with vinculin, modulates cellular morphology and motility, and promotes the progression of colorectal cancers. Takahashi R, et al. Cancer Med, 2014 Aug. PMID 24723436, Free PMC Article
  5. Regulation of sarcoma cell migration, invasion and invadopodia formation by AFAP1L1 through a phosphotyrosine-dependent pathway. Tie SR, et al. Oncogene, 2016 Apr 21. PMID 26212012

See all (24) citations in PubMed

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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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)

Genotypes

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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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_001146337.3 → 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

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