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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 2
  • AFAP1-Like Protein 1 4

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.

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

Genomics for AFAP1L1 Gene

Regulatory Elements for AFAP1L1 Gene

Promoters for AFAP1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AFAP1L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AFAP1L1 Gene

Chromosome:
5
Start:
149,271,838 bp from pter
End:
149,343,637 bp from pter
Size:
71,800 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AFAP1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFAP1L1 Gene

Proteomics data for AFAP1L1 Gene at MOPED

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFAP1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TED9

UniProtKB/Swiss-Prot:

AF1L1_HUMAN :
  • Contains 2 PH domains.
Domain:
  • Contains 2 PH domains.
genes like me logo Genes that share domains with AFAP1L1: view

Function for AFAP1L1 Gene

Molecular function for AFAP1L1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in podosome and invadosome formation.
genes like me logo Genes that share phenotypes with AFAP1L1: view

Animal Model Products

miRNA for AFAP1L1 Gene

miRTarBase miRNAs that target AFAP1L1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for AFAP1L1 Gene COMPARTMENTS Subcellular localization image for AFAP1L1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 3
cytosol 3
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 IDA --
GO:0005886 plasma membrane IDA --
GO:0071437 invadopodium IEA --
genes like me logo Genes that share ontologies with AFAP1L1: view

Pathways & Interactions for AFAP1L1 Gene

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

Unigene Clusters for AFAP1L1 Gene

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

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
ECgene alternative splicing isoforms for
AFAP1L1

Expression for AFAP1L1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for AFAP1L1 Gene



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).
genes like me logo Genes that share expression patterns with AFAP1L1: view

Protein tissue co-expression partners for AFAP1L1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.78 (n)
  • 99.61 (a)
AFAP1L1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AFAP1L1 36
  • 92 (a)
OneToOne
AFAP1L1 35
  • 89.86 (n)
  • 92.27 (a)
dog
(Canis familiaris)
Mammalia AFAP1L1 35
  • 89.78 (n)
  • 92.27 (a)
AFAP1L1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Afap1l1 16
Afap1l1 35
  • 86.74 (n)
  • 89.05 (a)
Afap1l1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AFAP1L1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFAP1L1 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Afap1l1 35
  • 86.35 (n)
  • 88.53 (a)
chicken
(Gallus gallus)
Aves AFAP1L1 35
  • 74.16 (n)
  • 71.88 (a)
AFAP1L1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFAP1L1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia afap1l1 35
  • 66.84 (n)
  • 64.86 (a)
zebrafish
(Danio rerio)
Actinopterygii AFAP1L1 (3 of 4) 36
  • 57 (a)
OneToMany
afap1l1a 36
  • 56 (a)
OneToMany
afap1l1a 36
  • 57 (a)
OneToMany
afap1l1b 36
  • 55 (a)
OneToMany
Dr.16264 35
Species with no ortholog for AFAP1L1:
  • 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

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

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 Sequence Context AA Info Type
rs24283 -- 149,285,208(+) GGAAA(A/G)GAGGG intron-variant
rs168462 -- 149,330,679(+) TTCCA(C/T)ATAAA intron-variant
rs168465 -- 149,304,482(-) AAGGA(A/G)CCCCA intron-variant
rs171286 -- 149,299,738(+) CACCC(C/G)CACCC intron-variant
rs184765 -- 149,327,835(+) agtac(C/T)agaag intron-variant

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

Variant ID Type Subtype PubMed ID
esv2730905 CNV Deletion 23290073
esv2659018 CNV Deletion 23128226
esv2730907 CNV Deletion 23290073
esv2663792 CNV Deletion 23128226

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)

Relevant External Links for AFAP1L1 Gene

HapMap Linkage Disequilibrium report
AFAP1L1

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

Disorders for AFAP1L1 Gene

Relevant External Links for AFAP1L1

Genetic Association Database (GAD)
AFAP1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 B.N. … Cunnick J.M. (Eur. J. Cell Biol. 2011) 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. AFAP1L1, a novel associating partner with vinculin, modulates cellular morphology and motility, and promotes the progression of colorectal cancers. (PMID: 24723436) Takahashi R. … Toguchida J. (Cancer Med 2014) 3
  4. The transcription factor Sp3 regulates the expression of a metastasis-related marker of sarcoma, actin filament-associated protein 1-like 1 (AFAP1L1). (PMID: 23326307) Kajita Y. … Toguchida J. (PLoS ONE 2013) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for AFAP1L1 Gene

Sources for AFAP1L1 Gene

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