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AFAP1 (actin filament associated protein 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60312
Gene nameGene Name - the full gene name approved by the HGNC.
Actin filament associated protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AFAP1
SynonymsGene synonyms aliases
AFAP, AFAP-110, AFAP110
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.1
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MEELIVELRLFLELLDHEYLTSTVREKKAVITNILLRIQSSKGFDVKDHAQKQETANSLP
APPQMPLPEIPQPWLPPDSGPPPLPTSSLPEGYYEEAVPLSPGKAPEYITSNYDSDAMSS
SYESYDEEEEDGKGKKTRHQWPSEEASMDLVKDAKICAFLLRKKRFGQWTKLLCVIKDTK
LLCYKSSKDQQPQMELPLQGCNITYIPKDSKKKKHELKITQQGTDPLVLAVQSKEQAEQW
LKVIKEAYS
GCSGPVDSECPPPPSSPVHKAELEKKLSSERPSSDGEGVVENGITTCNGKE
QVKRKKSSKSEAKGTVSKVTGKKITKIISLGKKKPSTDEQTSSAEEDVPTCGYLNVLSNS
RWRERWCRVKDNKLIFHKDRTDLKTHIVSIPLRGCEVIPGLDSKHPLTFRLLRNGQEVAV
LEASSSEDMGRWIGILLA
ETGSSTDPEALHYDYIDVEMSASVIQTAKQTFCFMNRRVISA
NPYLGGTSNGYAHPSGTALHYDDVPCINGSLKGKKPPVASNGVTGKGKTLSSQPKKADPA
AVVKRTGSNAAQYKYGKNRVEADAKRLQTKEEELLKRKEALRNRLAQLRKERKDLRAAIE
VNAGRKPQAILEEKLKQLEEECRQKEAERVSLELELTEVKESLKKALAGGVTLGLAIEPK
SGTSSPQSPVFRHRTLENSPISSCDTSDTEGPVPVNSAAVLKKSQAAPGSSPCRGHVLRK
AKEWELKNGT
Sequence length 730
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glaucoma Glaucoma, Glaucoma, Open-Angle rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 30054594, 30104761, 25173105, 29891935

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