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Aliases for AFAP1 Gene

Aliases for AFAP1 Gene

  • Actin Filament Associated Protein 1 2 3 5
  • 110 KDa Actin Filament-Associated Protein 3 4
  • AFAP-110 3 4
  • AFAP 3 4
  • Actin Filament-Associated Protein, 110 KDa 3
  • Actin Filament-Associated Protein 1 3
  • AFAP110 3

External Ids for AFAP1 Gene

Previous GeneCards Identifiers for AFAP1 Gene

  • GC04M007811

Summaries for AFAP1 Gene

Entrez Gene Summary for AFAP1 Gene

  • The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for AFAP1 Gene

AFAP1 (Actin Filament Associated Protein 1) is a Protein Coding gene. Among its related pathways are Immune response IFN gamma signaling pathway. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is AFAP1L1.

UniProtKB/Swiss-Prot for AFAP1 Gene

  • Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells.

Gene Wiki entry for AFAP1 Gene

Additional gene information for AFAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFAP1 Gene

Genomics for AFAP1 Gene

GeneHancer (GH) Regulatory Elements for AFAP1 Gene

Promoters and enhancers for AFAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I007936 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 619.1 +0.6 596 5.5 NFIB SIN3A ZNF48 ZEB1 ZNF335 GLIS2 RCOR1 EGR2 NFYC CEBPB AFAP1 GC04P007938 LOC389199 TRMT44 CPZ GPR78
GH04I007852 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 53.1 +81.6 81576 12.1 FOXA2 NFIB ZNF76 SIN3A RARA FOS CREM IKZF2 MIXL1 ZNF331 AFAP1 TRMT44 GC04M007832 PIR60658
GH04I007930 Enhancer 1.1 Ensembl ENCODE dbSUPER 72.3 +9.9 9937 1.2 CTCF KLF1 PKNOX1 ZIC2 RAD21 ZFHX2 CTBP1 POLR2A SCRT2 RCOR1 AFAP1 GC04P007938 GC04P007878
GH04I007840 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 51.8 +96.0 95973 6 CTCF JUN MAX SIN3A RAD21 TEAD3 POLR2A ZNF143 SMC3 FOSL2 AFAP1 ACOX3 GC04M007832 PIR60658
GH04I007908 Enhancer 1.1 Ensembl ENCODE dbSUPER 64.9 +29.3 29322 4.1 FOXA2 SAP130 ZNF384 CEBPG POLR2A FOS HOMEZ CHD2 ZNF3 HLF AFAP1 LOC389199 GC04P007938 GC04P007878
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AFAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AFAP1 gene promoter:

Genomic Locations for AFAP1 Gene

Genomic Locations for AFAP1 Gene
chr4:7,758,713-7,939,926
(GRCh38/hg38)
Size:
181,214 bases
Orientation:
Minus strand
chr4:7,760,440-7,941,653
(GRCh37/hg19)

Genomic View for AFAP1 Gene

Genes around AFAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFAP1 Gene

Proteins for AFAP1 Gene

  • Protein details for AFAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N556-AFAP1_HUMAN
    Recommended name:
    Actin filament-associated protein 1
    Protein Accession:
    Q8N556
    Secondary Accessions:
    • A8K442
    • B4DMU2
    • E9PDT7
    • Q59EY5
    • Q9HBY1

    Protein attributes for AFAP1 Gene

    Size:
    730 amino acids
    Molecular mass:
    80725 Da
    Quaternary structure:
    • Monomer and homomultimer. Interacts via its C-terminus with F-actin; probably involving AFAP1 multimers (By similarity). Interacts with activated SRC SH3-SH2 domains. Interacts via its PH 1 domain with PRKCA, PRKCB and PRKCI (By similarity).
    Miscellaneous:
    • Knockdown in MDA-MB-231 cells resulted in loss of actin stress fibers, decreased adhesion and spreading on fibronectin.

    Alternative splice isoforms for AFAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AFAP1 Gene

Post-translational modifications for AFAP1 Gene

No data available for DME Specific Peptides for AFAP1 Gene

Domains & Families for AFAP1 Gene

Gene Families for AFAP1 Gene

Protein Domains for AFAP1 Gene

Suggested Antigen Peptide Sequences for AFAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AFAP1: view

No data available for UniProtKB/Swiss-Prot for AFAP1 Gene

Function for AFAP1 Gene

Molecular function for AFAP1 Gene

UniProtKB/Swiss-Prot Function:
Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells.

Phenotypes From GWAS Catalog for AFAP1 Gene

Gene Ontology (GO) - Molecular Function for AFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with AFAP1: view
genes like me logo Genes that share phenotypes with AFAP1: view

Animal Models for AFAP1 Gene

MGI Knock Outs for AFAP1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AFAP1 Gene

Localization for AFAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFAP1 Gene

Cytoplasm, cytoskeleton. Note=Localizes with stress fibers in quiescent cells, concentrated in cell motility structures such as lamellipodia, filopodia and membrane ruffles upon their induction.

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 AFAP1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (2)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with AFAP1: view

Pathways & Interactions for AFAP1 Gene

genes like me logo Genes that share pathways with AFAP1: view

Pathways by source for AFAP1 Gene

1 GeneGo (Thomson Reuters) pathway for AFAP1 Gene

Gene Ontology (GO) - Biological Process for AFAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009966 regulation of signal transduction IEA --
GO:0051493 regulation of cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with AFAP1: view

No data available for SIGNOR curated interactions for AFAP1 Gene

Drugs & Compounds for AFAP1 Gene

(2) Drugs for AFAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AFAP1: view

Transcripts for AFAP1 Gene

Unigene Clusters for AFAP1 Gene

Actin filament associated protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFAP1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - -
SP2: - -
SP3: - -
SP4: - - - - - - -
SP5: -
SP6:
SP7:
SP8: - -
SP9: - -
SP10: - -
SP11:
SP12:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for AFAP1 Gene

GeneLoc Exon Structure for
AFAP1
ECgene alternative splicing isoforms for
AFAP1

Expression for AFAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFAP1 Gene

Protein differential expression in normal tissues from HIPED for AFAP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.9) and Breast (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AFAP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AFAP1 Gene:

AFAP1

SOURCE GeneReport for Unigene cluster for AFAP1 Gene:

Hs.529369

mRNA Expression by UniProt/SwissProt for AFAP1 Gene:

Q8N556-AFAP1_HUMAN
Tissue specificity: Low expression in normal breast epithelial cell line MCF-10A and in tumorigenic breast cancer cell lines MCF-7, T-47D and ZR-75-1. Highly expressed in the invasive breast cancer cell lines MDA-MB-231 and MDA-MB-435. Overexpressed in prostate carcinoma.

Evidence on tissue expression from TISSUES for AFAP1 Gene

  • Nervous system(4.8)
  • Kidney(4.3)
  • Liver(4.2)
  • Lung(4.2)
  • Thyroid gland(3.4)
  • Intestine(3)
  • Eye(2.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with AFAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFAP1 Gene

Orthologs for AFAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AFAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AFAP1 34 33
  • 99.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AFAP1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Afap1 16 34 33
  • 84.22 (n)
cow
(Bos Taurus)
Mammalia AFAP1 34 33
  • 83.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Afap1 33
  • 82.75 (n)
dog
(Canis familiaris)
Mammalia AFAP1 34 33
  • 80.9 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFAP1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFAP1 34 33
  • 79.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFAP1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia afap1 33
  • 73.81 (n)
zebrafish
(Danio rerio)
Actinopterygii afap1 33 34
  • 68.35 (n)
Species where no ortholog for AFAP1 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 AFAP1 Gene

ENSEMBL:
Gene Tree for AFAP1 (if available)
TreeFam:
Gene Tree for AFAP1 (if available)

Paralogs for AFAP1 Gene

Paralogs for AFAP1 Gene

(2) SIMAP similar genes for AFAP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AFAP1: view

Variants for AFAP1 Gene

Sequence variations from dbSNP and Humsavar for AFAP1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000038756 -- 7,822,621(-) G/T intron_variant
rs1000039660 -- 7,915,244(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000041405 -- 7,773,609(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000053554 -- 7,788,256(-) A/G intron_variant
rs1000053658 -- 7,909,505(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AFAP1 Gene

Variant ID Type Subtype PubMed ID
dgv975e214 CNV loss 21293372
esv2143898 CNV deletion 18987734
esv2144252 CNV deletion 18987734
esv22994 CNV gain 19812545
esv23167 CNV gain+loss 19812545
esv2491294 CNV insertion 19546169
esv2657565 CNV deletion 23128226
esv2668272 CNV deletion 23128226
esv2672788 CNV deletion 23128226
esv2727079 CNV deletion 23290073
esv2727080 CNV deletion 23290073
esv2727081 CNV deletion 23290073
esv2727082 CNV deletion 23290073
esv2727083 CNV deletion 23290073
esv2727085 CNV deletion 23290073
esv2727086 CNV deletion 23290073
esv2727087 CNV deletion 23290073
esv2727088 CNV deletion 23290073
esv2727089 CNV deletion 23290073
esv2727090 CNV deletion 23290073
esv2727091 CNV deletion 23290073
esv2727092 CNV deletion 23290073
esv2727093 CNV deletion 23290073
esv2727094 CNV deletion 23290073
esv2727096 CNV deletion 23290073
esv2743363 CNV deletion 23290073
esv2763337 CNV loss 21179565
esv3330221 CNV duplication 20981092
esv3343056 CNV duplication 20981092
esv3411064 CNV duplication 20981092
esv34140 CNV loss 18971310
esv34196 OTHER inversion 12058347
esv3569279 CNV loss 25503493
esv8707 CNV gain 19470904
nsv1006642 CNV loss 25217958
nsv1074684 CNV deletion 25765185
nsv1117058 CNV deletion 24896259
nsv1119516 CNV insertion 24896259
nsv1121623 CNV deletion 24896259
nsv1123749 CNV deletion 24896259
nsv1126034 CNV deletion 24896259
nsv1130812 CNV deletion 24896259
nsv1139213 CNV deletion 24896259
nsv1140176 CNV insertion 24896259
nsv1148184 CNV insertion 26484159
nsv1150165 CNV deletion 26484159
nsv1150295 CNV deletion 26484159
nsv291019 CNV deletion 16902084
nsv291213 CNV deletion 16902084
nsv475385 CNV novel sequence insertion 20440878
nsv508996 CNV insertion 20534489
nsv522369 CNV gain 19592680
nsv820965 CNV deletion 20802225
nsv822468 CNV gain 20364138

Variation tolerance for AFAP1 Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.08; 84.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AFAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFAP1 Gene

Disorders for AFAP1 Gene

Additional Disease Information for AFAP1

No disorders were found for AFAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AFAP1 Gene

Publications for AFAP1 Gene

  1. AFAP-110 is required for actin stress fiber formation and cell adhesion in MDA-MB-231 breast cancer cells. (PMID: 17520695) Dorfleutner A … Flynn DC (Journal of cellular physiology 2007) 3 4 22 58
  2. Analysis of the role of the leucine zipper motif in regulating the ability of AFAP-110 to alter actin filament integrity. (PMID: 14755689) Qian Y … Flynn DC (Journal of cellular biochemistry 2004) 2 3 22 58
  3. The actin filament-associated protein AFAP-110 is an adaptor protein that modulates changes in actin filament integrity. (PMID: 11607843) Baisden JM … Flynn DC (Oncogene 2001) 2 3 22 58
  4. The intrinsic ability of AFAP-110 to alter actin filament integrity is linked with its ability to also activate cellular tyrosine kinases. (PMID: 11641786) Baisden JM … Flynn DC (Oncogene 2001) 2 3 22 58
  5. AFAP-110 is overexpressed in prostate cancer and contributes to tumorigenic growth by regulating focal contacts. (PMID: 17885682) Zhang J … Gallick GE (The Journal of clinical investigation 2007) 4 22 58

Products for AFAP1 Gene

Sources for AFAP1 Gene

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