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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
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 |
|