AKAP8L (A-kinase anchoring protein 8 like)

2014-11-01  

Identity

HGNC
LOCATION
19p13.12
LOCUSID
ALIAS
HA95,HAP95,NAKAP,NAKAP95
FUSION GENES

Other Information

Locus ID:

NCBI: 26993
MIM: 609475
HGNC: 29857
Ensembl: ENSG00000011243

Variants:

dbSNP: 26993
ClinVar: 26993
TCGA: ENSG00000011243
COSMIC: AKAP8L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011243ENST00000397410Q9ULX6
ENSG00000011243ENST00000594594M0R008
ENSG00000011243ENST00000595067M0R010
ENSG00000011243ENST00000595465Q9ULX6
ENSG00000011243ENST00000596195M0QYT7
ENSG00000011243ENST00000599137M0R1L5
ENSG00000011243ENST00000600247M0R1Y5
ENSG00000011243ENST00000609519V9GZ50

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175949032007Involvement of the catalytic subunit of protein kinase A and of HA95 in pre-mRNA splicing.24
183130492008A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that interacts with a nuclear protein, HAP95.14
260763562015Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.7
163913872005Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis.5
129501722003In vitro modulation of the interaction between HA95 and LAP2beta by cAMP signaling.2

Citation

Dessen P

AKAP8L (A-kinase anchoring protein 8 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60226/akap8l-(a-kinase-anchoring-protein-8-like)