1. Gene
  2. AKAP5 - A-kinase anchoring protein 5 Gene

AKAP5 - A-kinase anchoring protein 5 Gene

Homo sapiens

Also known as H21; AKAP75; AKAP79

Gene ID: 9495 | Gene type: protein coding

About AKAP5

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:64,465,499-64,474,503 (from NCBI)

This gene has 2 transcripts (splice variants) and 105 orthologues. Biased expression in brain (RPKM 10.3), colon (RPKM 3.6) and 10 other tissues.

Summary

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 encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the Phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]

AKAP5 Products(1)

mRNA Protein Name
NM_004857.3 NP_004848.3 A-kinase anchor protein 5

AKAP5 Protein Structure

WSK

WSK: WSK motif (74 - 102)

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  • 427 a.a.
Protein Preferred Names Protein Names

A-kinase anchor protein 5

A kinase (PRKA) anchor protein 5

Related Diseases

Diseases Alias
Fleck Retina, Familial Benign

FRFB

Familial Benign Flecked Retina

Familial Benign Fleck Retina

Retinitis Pigmentosa 18

RP18

Retinitis Pigmentosa-18

Retinitis Pigmentosa, Type 18

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus AKAP5 VGNC VGNC:25786
Mus musculus AKAP5 MGD MGI:2685104
Macaca mulatta AKAP5 VGNC VGNC:84299
Rattus norvegicus AKAP5 RGD RGD:620829
Felis catus AKAP5 VGNC VGNC:59715
Canis familiaris AKAP5 VGNC VGNC:37758