Aliases for AFAP1L1 Gene

Aliases for AFAP1L1 Gene

  • Actin Filament Associated Protein 1 Like 1 2 3 5
  • Actin Filament-Associated Protein 1-Like 1 3 4
  • AFAP1-Like Protein 1 3 4
  • Actin Filament Associated Protein 1-Like 1 2
  • FLJ36748 2
  • AFAP1L1 5

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. Diseases associated with AFAP1L1 include Freemartinism and Spindle Cell Sarcoma. An important paralog of this gene is AFAP1.

UniProtKB/Swiss-Prot Summary for AFAP1L1 Gene

Additional gene information for AFAP1L1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AFAP1L1 Gene

Genomics for AFAP1L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AFAP1L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AFAP1L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AFAP1L1

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

Genomic Locations for AFAP1L1 Gene

Genomic Locations for AFAP1L1 Gene
chr5:149,271,838-149,343,637
(GRCh38/hg38)
Size:
71,800 bases
Orientation:
Plus strand
chr5:148,651,401-148,721,368
(GRCh37/hg19)
Size:
69,968 bases
Orientation:
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:
    Q8TED9-AF1L1_HUMAN
    Recommended name:
    Actin filament-associated protein 1-like 1
    Protein Accession:
    Q8TED9
    Secondary Accessions:
    • Q08AN4
    • Q08AN5
    • Q8IW82
    • Q8N8Z5
    • Q8N9Q4

    Protein attributes for AFAP1L1 Gene

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

    Alternative splice isoforms for AFAP1L1 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

  • Boster Bio Antibodies for AFAP1L1

No data available for DME Specific Peptides for AFAP1L1 Gene

Domains & Families for AFAP1L1 Gene

Gene Families for AFAP1L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AFAP1L1 Gene

InterPro:
Blocks:
  • Pleckstrin-like
ProtoNet:

Suggested Antigen Peptide Sequences for AFAP1L1 Gene

GenScript: Design optimal peptide antigens:
  • Actin filament-associated protein 1-like 1 (AF1L1_HUMAN)
genes like me logo Genes that share domains with AFAP1L1: view

No data available for Graphical View of Domain Structure and 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
GO:0017124 SH3 domain binding IBA 21873635
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

CRISPR Products

miRNA for AFAP1L1 Gene

miRTarBase miRNAs that target AFAP1L1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFAP1L1

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. Cytoplasm, cytoskeleton, stress fiber.

Subcellular locations from

COMPARTMENTS
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
cytosol 4
nucleus 3
plasma membrane 2
extracellular 1
mitochondrion 1

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:0005829 cytosol IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0030054 cell junction 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

PathCards logo

SuperPathways for AFAP1L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFAP1L1 Gene

None

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

mRNA/cDNA for AFAP1L1 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFAP1L1

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: - - - -
SP2:
SP3: - -
SP4: -
SP5:

Relevant External Links for AFAP1L1 Gene

GeneLoc Exon Structure for
AFAP1L1

Expression for AFAP1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AFAP1L1

SOURCE GeneReport for Unigene cluster for AFAP1L1 Gene:

Hs.483793

mRNA Expression by UniProt/SwissProt for AFAP1L1 Gene:

Q8TED9-AF1L1_HUMAN
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)
  • Kidney(2.2)
  • Muscle(2.1)
  • Thyroid gland(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia AFAP1L1 30 31
  • 99.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AFAP1L1 30 31
  • 89.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AFAP1L1 30 31
  • 89.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Afap1l1 30 17 31
  • 86.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Afap1l1 30
  • 86.35 (n)
Oppossum
(Monodelphis domestica)
Mammalia AFAP1L1 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AFAP1L1 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AFAP1L1 30 31
  • 74.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AFAP1L1 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia afap1l1 30
  • 66.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii AFAP1L1 (3 of 4) 31
  • 57 (a)
OneToMany
afap1l1a 31 31
  • 57 (a)
OneToMany
afap1l1b 31
  • 55 (a)
OneToMany
Dr.16264 30
Species where no ortholog for AFAP1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AFAP1L1 (if available)
TreeFam:
Gene Tree for AFAP1L1 (if available)
Aminode:
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:

  • AF1L1_HUMAN
genes like me logo Genes that share paralogs with AFAP1L1: view

Variants for AFAP1L1 Gene

Additional dbSNP identifiers (rs#s) for AFAP1L1 Gene

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

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

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
AFAP1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AFAP1L1 Gene

Disorders for AFAP1L1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AFAP1L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
freemartinism
spindle cell sarcoma
  • sarcoma
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AFAP1L1

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

No data available for 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) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for AFAP1L1 Gene

Sources for AFAP1L1 Gene