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Aliases for AFAP1L1 Gene

Aliases for AFAP1L1 Gene

  • Actin Filament Associated Protein 1 Like 1 2 3 5
  • AFAP1-Like Protein 1 3 4
  • Actin Filament-Associated Protein 1-Like 1 3
  • Actin Filament Associated Protein 1-Like 1 2

External Ids for AFAP1L1 Gene

Previous GeneCards Identifiers for AFAP1L1 Gene

  • GC05P148632
  • GC05P143797
  • GC05P148651

Summaries for AFAP1L1 Gene

GeneCards Summary for AFAP1L1 Gene

AFAP1L1 (Actin Filament Associated Protein 1 Like 1) is a Protein Coding gene. An important paralog of this gene is AFAP1.

UniProtKB/Swiss-Prot for AFAP1L1 Gene

  • May be involved in podosome and invadosome formation.

Additional gene information for AFAP1L1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFAP1L1 Gene

Genomics for AFAP1L1 Gene

GeneHancer (GH) Regulatory Elements for AFAP1L1 Gene

Promoters and enhancers for AFAP1L1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J149270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 673.2 +0.9 931 3.7 CLOCK SIN3A GLI4 GLIS2 SP3 REST NFIL3 ZNF610 GLIS1 KLF1 AFAP1L1 ENSG00000253406 ENSG00000248647
GH05J149209 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 26.1 -58.0 -57998 8.5 ZNF493 ZFP64 BMI1 KLF14 RCOR1 FOS ZNF680 ZNF654 ZBTB11 ZC3H11A HMGXB3 FBXO38 ENSG00000251330 AFAP1L1 TIGD6 LOC102546294 RPL7P1 ENSG00000253406 ENSG00000248647 RPS20P4
GH05J149220 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 28.4 -50.6 -50623 1.6 SOX5 SOX13 FOXA2 RXRA SAP130 FOXA3 HLF SP1 XRCC5 GLIS1 AFAP1L1 SH3TC2 ARHGEF37 ENSG00000248647 ENSG00000253406 GC05M149047 ABLIM3
GH05J149403 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE dbSUPER 9.6 +143.2 143210 23.4 FOXA2 ZFP64 ARID4B YBX1 ZNF48 ZNF121 GLIS2 ZFP91 FOS RXRA IL17B ENSG00000253865 RNU6-588P ARHGEF37 CSNK1A1 RPL29P14 AFAP1L1 ENSG00000253406 ENSG00000248647 RPL7P1
GH05J149295 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.3 +26.3 26327 5.5 ELF3 FOXA2 ARID4B DMAP1 RARA ZNF366 ZSCAN5C SCRT2 EGR2 CEBPB GC05M149294 AFAP1L1 PCYOX1L ENSG00000253406 ENSG00000248647 ENSG00000253865 MIR143 CARMN IL17B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AFAP1L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AFAP1L1 gene promoter:
  • Sox5
  • MRF-2
  • AREB6
  • FOXO3b
  • FOXO3a
  • FOXO3
  • FOXD3
  • GATA-1
  • ITF-2
  • aMEF-2

Genomic Locations for AFAP1L1 Gene

Genomic Locations for AFAP1L1 Gene
71,800 bases
Plus strand
69,968 bases
Plus strand

Genomic View for AFAP1L1 Gene

Genes around AFAP1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFAP1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFAP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFAP1L1 Gene

Proteins for AFAP1L1 Gene

  • Protein details for AFAP1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Actin filament-associated protein 1-like 1
    Protein Accession:
    Secondary Accessions:
    • Q08AN4
    • Q08AN5
    • Q8IW82
    • Q8N8Z5
    • Q8N9Q4

    Protein attributes for AFAP1L1 Gene

    768 amino acids
    Molecular mass:
    86432 Da
    Quaternary structure:
    • Interacts with CTTN.
    • Sequence=BAB85011.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AFAP1L1 Gene


neXtProt entry for AFAP1L1 Gene

Post-translational modifications for AFAP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AFAP1L1 Gene

No data available for DME Specific Peptides for AFAP1L1 Gene

Domains & Families for AFAP1L1 Gene

Gene Families for AFAP1L1 Gene

Protein Domains for AFAP1L1 Gene

Suggested Antigen Peptide Sequences for AFAP1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AFAP1L1: view

No data available for UniProtKB/Swiss-Prot for AFAP1L1 Gene

Function for AFAP1L1 Gene

Molecular function for AFAP1L1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in podosome and invadosome formation.

Phenotypes From GWAS Catalog for AFAP1L1 Gene

Gene Ontology (GO) - Molecular Function for AFAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with AFAP1L1: view
genes like me logo Genes that share phenotypes with AFAP1L1: view

Animal Model Products

miRNA for AFAP1L1 Gene

miRTarBase miRNAs that target AFAP1L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AFAP1L1 Gene

Localization for AFAP1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFAP1L1 Gene

Cytoplasm. Cell projection, podosome. Cell projection, invadopodium. Note=In the cytosol, associated with actin stress fibers.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFAP1L1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
cytosol 3
plasma membrane 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for AFAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005737 cytoplasm IEA --
GO:0030054 cell junction IEA --
GO:0042995 cell projection IEA --
GO:0071437 invadopodium IEA --
genes like me logo Genes that share ontologies with AFAP1L1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AFAP1L1 Gene

Pathways & Interactions for AFAP1L1 Gene

SuperPathways for AFAP1L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFAP1L1 Gene


No data available for Pathways by source and SIGNOR curated interactions for AFAP1L1 Gene

Drugs & Compounds for AFAP1L1 Gene

No Compound Related Data Available

Transcripts for AFAP1L1 Gene

Unigene Clusters for AFAP1L1 Gene

Actin filament associated protein 1-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFAP1L1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1: - - - -
SP3: - -
SP4: -

Relevant External Links for AFAP1L1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AFAP1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFAP1L1 Gene

mRNA differential expression in normal tissues according to GTEx for AFAP1L1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.6) and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for AFAP1L1 Gene

This gene is overexpressed in Placenta (39.9) and Fetal heart (25.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AFAP1L1 Gene

Protein tissue co-expression partners for AFAP1L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AFAP1L1 Gene:


SOURCE GeneReport for Unigene cluster for AFAP1L1 Gene:


mRNA Expression by UniProt/SwissProt for AFAP1L1 Gene:

Tissue specificity: Expressed in breast, colon and brain. In all 3 tissues, expressed in the microvasculature (at protein level). In addition, in the breast, found in the contractile myoepithelial cell layer which surrounds the breast ducts (at protein level). In the colon, expressed in the mucous membrane and colonic crypts and in the smooth muscle cell layer which provide movement of the colon (at protein level). In the cerebellum, localized around the Purkinje neurons and the granule cells of the granular layer, but not inside cell bodies (at protein level). Outside of the cerebellar cortex, expressed in glial cells (at protein level). Highly expressed away from the cell bodies within the dentate nucleus (at protein level).

Evidence on tissue expression from TISSUES for AFAP1L1 Gene

  • Lung(4.4)
  • Skin(4.3)
  • Spleen(4.3)
genes like me logo Genes that share expression patterns with AFAP1L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFAP1L1 Gene

Orthologs for AFAP1L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AFAP1L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AFAP1L1 34 33
  • 99.78 (n)
(Bos Taurus)
Mammalia AFAP1L1 34 33
  • 89.86 (n)
(Canis familiaris)
Mammalia AFAP1L1 34 33
  • 89.78 (n)
(Mus musculus)
Mammalia Afap1l1 16 34 33
  • 86.74 (n)
(Rattus norvegicus)
Mammalia Afap1l1 33
  • 86.35 (n)
(Monodelphis domestica)
Mammalia AFAP1L1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia AFAP1L1 34
  • 49 (a)
(Gallus gallus)
Aves AFAP1L1 34 33
  • 74.16 (n)
(Anolis carolinensis)
Reptilia AFAP1L1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia afap1l1 33
  • 66.84 (n)
(Danio rerio)
Actinopterygii AFAP1L1 (3 of 4) 34
  • 57 (a)
afap1l1a 34 34
  • 57 (a)
afap1l1b 34
  • 55 (a)
Dr.16264 33
Species where no ortholog for AFAP1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AFAP1L1 Gene

Gene Tree for AFAP1L1 (if available)
Gene Tree for AFAP1L1 (if available)
Evolutionary constrained regions (ECRs) for AFAP1L1: view image

Paralogs for AFAP1L1 Gene

Paralogs for AFAP1L1 Gene

(1) SIMAP similar genes for AFAP1L1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AFAP1L1: view

Variants for AFAP1L1 Gene

Sequence variations from dbSNP and Humsavar for AFAP1L1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000017539 -- 149,298,840(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000027254 -- 149,319,677(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1000047758 -- 149,323,695(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000085958 -- 149,277,984(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000095430 -- 149,331,352(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AFAP1L1 Gene

Variant ID Type Subtype PubMed ID
esv3607138 CNV gain 21293372
esv3607137 CNV gain 21293372
esv3566801 CNV deletion 23714750
esv2763508 CNV loss 21179565
esv2730907 CNV deletion 23290073
esv2730905 CNV deletion 23290073
esv2663792 CNV deletion 23128226
esv2659018 CNV deletion 23128226
dgv3191n106 CNV deletion 24896259

Variation tolerance for AFAP1L1 Gene

Residual Variation Intolerance Score: 67.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AFAP1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFAP1L1 Gene

Disorders for AFAP1L1 Gene

Additional Disease Information for AFAP1L1

No disorders were found for AFAP1L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AFAP1L1 Gene

Publications for AFAP1L1 Gene

  1. AFAP1L1 is a novel adaptor protein of the AFAP family that interacts with cortactin and localizes to invadosomes. (PMID: 21333378) Snyder BN … Cunnick JM (European journal of cell biology 2011) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  4. Regulation of sarcoma cell migration, invasion and invadopodia formation by AFAP1L1 through a phosphotyrosine-dependent pathway. (PMID: 26212012) Tie SR … Ingley E (Oncogene 2016) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for AFAP1L1 Gene

Sources for AFAP1L1 Gene

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