A-Kinase Anchor Protein 9

Alternative Names

  • AKAP9
  • Yotiao
  • A-Kinase Anchor Protein, 450-Kd
  • AKAP450
  • Centrosome- and Golgi-Localized Protein Kinase N-Associated Protein
  • CGNAP
  • AKAP9/BRAF Fusion Gene

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

604001

NCBI Gene ID

10142

Uniprot ID

Q99996

Length

169,812 bases

No. of Exons

51

No. of isoforms

6

Protein Name

A-kinase anchor protein 9

Molecular Mass

452987 Da

Amino Acid Count

3907

Genomic Location

chr7:91,940,862-92,110,673

Gene Map Locus
7q21.2

Description

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. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005751.5:c.5251C>TSaudi ArabiaNC_000007.14:g.92045096C>TUncertain SignificanceLikely PathogenicSpermatogenic Failure 1NG_011623.1:g.109222C>T; NM_005751.5:c.5251C>T; NP_005742.4:p.Arg1751Cys144269839412019
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