Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8165
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
A-kinase anchoring protein 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
AKAP1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AKAP, AKAP121, AKAP149, AKAP84, D-AKAP1, PPP1R43, PRKA1, SAKAP84, TDRD17 |
Chromosome
Chromosome number
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17 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q22 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene |
UniProt ID |
Q92667
|
Protein name |
A-kinase anchor protein 1, mitochondrial (A-kinase anchor protein 149 kDa) (AKAP 149) (Dual specificity A-kinase-anchoring protein 1) (D-AKAP-1) (Protein kinase A-anchoring protein 1) (PRKA1) (Spermatid A-kinase anchor protein 84) (S-AKAP84) |
Protein function |
Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane (By similarity). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Promotes |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00013
|
KH_1 |
609 → 673 |
KH domain |
Domain |
PF00567
|
TUDOR |
704 → 828 |
Tudor domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Isoform 1 is detected in thymus, prostate, testis, ovary, colon and small intestine (PubMed:8769136). Isoform 2 is highly expressed in testis and detected at much lower levels in kidney, pancreas, liver, lung and brain (PubMed:7499250) |
Sequence |
|
Sequence length |
903 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20975297 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adrenocortical Carcinoma |
Associate
|
23077346 |
Anemia Sickle Cell |
Associate
|
24655501 |
Breast Neoplasms |
Associate
|
23172368, 30598507 |
Colorectal Neoplasms |
Associate
|
29599290 |
Coronary Artery Disease |
Associate
|
40055597 |
Cushing Syndrome |
Associate
|
37306403 |
Diabetic Nephropathies |
Associate
|
35844803 |
Hyperglycemic Hyperosmolar Nonketotic Coma |
Stimulate
|
35844803 |
Inflammation |
Associate
|
25637608 |
Insulin Resistance |
Associate
|
32797476 |
Mitochondrial Diseases |
Associate
|
35844803 |
Neoplasms |
Associate
|
29433456 |
Obesity |
Inhibit
|
20975297 |
|