Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60312
Gene name Gene Name - the full gene name approved by the HGNC.
Actin filament associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFAP1
Synonyms (NCBI Gene) Gene synonyms aliases
AFAP, AFAP-110, AFAP110
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.1
Summary Summary of gene provided in NCBI Entrez 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 prot
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023977 hsa-miR-1-3p Proteomics 18668040
MIRT029985 hsa-miR-26b-5p Microarray 19088304
MIRT722720 hsa-miR-578 HITS-CLIP 19536157
MIRT660869 hsa-miR-548a-3p HITS-CLIP 23824327
MIRT660868 hsa-miR-548ar-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005925 Component Focal adhesion HDA 21423176
GO:0005925 Component Focal adhesion IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608252 24017 ENSG00000196526
Protein
UniProt ID Q8N556
Protein name Actin filament-associated protein 1 (110 kDa actin filament-associated protein) (AFAP-110)
Protein 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 SR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 149 249 PH domain Domain
PF00169 PH 333 438 PH domain Domain
Tissue specificity 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
MEELIVELRLFLELLDHEYLTSTVREKKAVITNILLRIQSSKGFDVKDHAQKQETANSLP
APPQMPLPEIPQPWLPPDSGPPPLPTSSLPEGYYEEAVPLSPGKAPEYITSNYDSDAMSS
SYESYDEEEEDGKGKKTRHQWPSEEASMDLVKDAKICAFLLRKKRFGQWTKLLCVIKDTK
LLCYKSSKDQQPQMELPLQGCNITYIPKDSKKKKHELKITQQGTDPLVLAVQSKEQAEQW
LKVIKEAYS
GCSGPVDSECPPPPSSPVHKAELEKKLSSERPSSDGEGVVENGITTCNGKE
QVKRKKSSKSEAKGTVSKVTGKKITKIISLGKKKPSTDEQTSSAEEDVPTCGYLNVLSNS
RWRERWCRVKDNKLIFHKDRTDLKTHIVSIPLRGCEVIPGLDSKHPLTFRLLRNGQEVAV
LEASSSEDMGRWIGILLA
ETGSSTDPEALHYDYIDVEMSASVIQTAKQTFCFMNRRVISA
NPYLGGTSNGYAHPSGTALHYDDVPCINGSLKGKKPPVASNGVTGKGKTLSSQPKKADPA
AVVKRTGSNAAQYKYGKNRVEADAKRLQTKEEELLKRKEALRNRLAQLRKERKDLRAAIE
VNAGRKPQAILEEKLKQLEEECRQKEAERVSLELELTEVKESLKKALAGGVTLGLAIEPK
SGTSSPQSPVFRHRTLENSPISSCDTSDTEGPVPVNSAAVLKKSQAAPGSSPCRGHVLRK
AKEWELKNGT
Sequence length 730
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Glaucoma Glaucoma, Glaucoma, Open-Angle rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
30054594, 30104761, 25173105, 29891935
Unknown
Disease term Disease name Evidence References Source
Biliary Atresia Biliary Atresia GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 23333711
Adenocarcinoma Stimulate 27577754
Adenocarcinoma of Lung Associate 35603556
Barrett Esophagus Associate 23333711
Breast Neoplasms Associate 29439313, 29458327, 32401758
Carcinogenesis Associate 27628540, 37686205
Carcinoma Hepatocellular Stimulate 27577754
Carcinoma Non Small Cell Lung Associate 30278439
Carcinoma Non Small Cell Lung Stimulate 30293090
Carcinoma Pancreatic Ductal Associate 27628540