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Aliases for AFAP1L1 Gene

Aliases for AFAP1L1 Gene

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

External Ids for AFAP1L1 Gene

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 spindle cell sarcoma. GO annotations related to this gene include phospholipid binding. 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

Genomic Location for AFAP1L1 Gene

Start:
149,271,838 bp from pter
End:
149,341,805 bp from pter
Size:
69,968 bases
Orientation:
Plus strand

Genomic View for AFAP1L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFAP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFAP1L1 Gene

Regulatory Elements 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AFAP1L1 Gene

Domains for AFAP1L1 Gene

Gene Families for AFAP1L1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

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
Domain:
  • Contains 2 PH domains.:
    • Q8TED9
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.

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

miRNA for AFAP1L1 Gene

miRTarBase miRNAs that target AFAP1L1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
cytoskeleton 5
nucleus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AFAP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with AFAP1L1: view

Pathways 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 for AFAP1L1 Gene

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adipose - Subcutaneous (4.6) and Heart - Left Ventricle (4.5).

Integrated Proteomics: protein expression 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 expressions with AFAP1L1: view

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 35
  • 89.86 (n)
  • 92.27 (a)
AFAP1L1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFAP1L1 35
  • 89.78 (n)
  • 92.27 (a)
AFAP1L1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Afap1l1 35
  • 86.74 (n)
  • 89.05 (a)
Afap1l1 16
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

Selected 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 MAF
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

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

(1) MalaCards Diseases for AFAP1L1 Gene

Search for AFAP1L1 Gene in MalaCards »

Relevant External Links for AFAP1L1

Genetic Association Database (GAD)
AFAP1L1
genes like me logo Genes that share disorders with AFAP1L1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing R.M. … Figeys D. (Mol. Syst. Biol. 2007) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for AFAP1L1 Gene

Sources for AFAP1L1 Gene

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