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  2. AKAP8L - A-kinase anchoring protein 8 like Gene

AKAP8L - A-kinase anchoring protein 8 like Gene

Homo sapiens

Also known as HA95; HAP95; NAKAP; NAKAP95

Gene ID: 26993 | Gene type: protein coding

About AKAP8L

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:15,380,050-15,418,988 (from NCBI)

This gene has 39 transcripts (splice variants), 198 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 21.2), testis (RPKM 18.0) and 25 other tissues.

Summary

Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including mitotic chromosome condensation; regulation of histone modification; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

AKAP8L Products(2)

mRNA Protein Name
NM_001291478.2 NP_001278407.1 A-kinase anchor protein 8-like isoform 2
NM_014371.4 NP_055186.3 A-kinase anchor protein 8-like isoform 1

AKAP8L Protein Structure

AKAP95

AKAP95: A-kinase anchoring protein 95 (AKAP95) (389 - 554)

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  • 646 a.a.
Protein Preferred Names Protein Names

A-kinase anchor protein 8-like

A kinase (PRKA) anchor protein 8-like

Related Diseases

Diseases Alias
Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

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
Mus musculus AKAP8L MGD MGI:1860606
Macaca mulatta AKAP8L VGNC VGNC:108460
Bos taurus AKAP8L VGNC VGNC:25790
Rattus norvegicus AKAP8L RGD RGD:1359200
Felis catus AKAP8L VGNC VGNC:69344
Canis familiaris AKAP8L VGNC VGNC:37762