• Gene id: 60312

Gene Summary

• Gene Symbol: AFAP1   Gene   UCSC   Ensembl
• Aliases: AFAP, AFAP-110, AFAP110
• Gene name: actin filament associated protein 1
• Alternate names: actin filament-associated protein 1, 110 kDa actin filament-associated protein, actin filament-associated protein, 110 kDa,
• Gene location: 4p16.1 (7939925: 7758712)     Exons: 21     NC_000004.12
• Gene summary(Entrez): 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 prot
• OMIM: 300492

Protein Summary

• Protein general information: Q8N556  
  • Name: Actin filament associated protein 1 (110 kDa actin filament associated protein) (AFAP 110)
  • Length: 730  
  • Mass: 80725
  • 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 pr
• Sequence:

  MEELIVELRLFLELLDHEYLTSTVREKKAVITNILLRIQSSKGFDVKDHAQKQETANSLPAPPQMPLPEIPQPWL
  PPDSGPPPLPTSSLPEGYYEEAVPLSPGKAPEYITSNYDSDAMSSSYESYDEEEEDGKGKKTRHQWPSEEASMDL
  VKDAKICAFLLRKKRFGQWTKLLCVIKDTKLLCYKSSKDQQPQMELPLQGCNITYIPKDSKKKKHELKITQQGTD
  PLVLAVQSKEQAEQWLKVIKEAYSGCSGPVDSECPPPPSSPVHKAELEKKLSSERPSSDGEGVVENGITTCNGKE
  QVKRKKSSKSEAKGTVSKVTGKKITKIISLGKKKPSTDEQTSSAEEDVPTCGYLNVLSNSRWRERWCRVKDNKLI
  FHKDRTDLKTHIVSIPLRGCEVIPGLDSKHPLTFRLLRNGQEVAVLEASSSEDMGRWIGILLAETGSSTDPEALH
  YDYIDVEMSASVIQTAKQTFCFMNRRVISANPYLGGTSNGYAHPSGTALHYDDVPCINGSLKGKKPPVASNGVTG
  KGKTLSSQPKKADPAAVVKRTGSNAAQYKYGKNRVEADAKRLQTKEEELLKRKEALRNRLAQLRKERKDLRAAIE
  VNAGRKPQAILEEKLKQLEEECRQKEAERVSLELELTEVKESLKKALAGGVTLGLAIEPKSGTSSPQSPVFRHRT
  LENSPISSCDTSDTEGPVPVNSAAVLKKSQAAPGSSPCRGHVLRKAKEWELKNGT

• Structural information:
  • Protein Domains: (153..24-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (347..44-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR030113  IPR029907  IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000410689
• Other Databases: GeneCards:  AFAP1  Malacards:  AFAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042169	SH2 domain binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0051493	regulation of cytoskeleton organization	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
open-angle glaucoma	PMID:25173105
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq