AKAP4 - A-kinase anchoring protein 4 Gene

Also Known as HI; p82; CT99; FSC1; PRKA4; AKAP-4; AKAP82; AKAP 82; hAKAP82

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8852

About AKAP4

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:50,190,777-50,201,007 (from NCBI)

This gene has 6 transcripts (splice variants), 127 orthologues and 3 paralogues. Restricted expression toward testis (RPKM 101.7).

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 is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP4 Products (2)

mRNA	Protein	Name
NM_003886.3	NP_003877.2	A-kinase anchor protein 4 isoform 1
NM_139289.2	NP_647450.1	A-kinase anchor protein 4 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27913189	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	9822690	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in motile cilium	IDA IDA: Inferred from direct assay	9822690	GOA
located in sperm end piece	IDA IDA: Inferred from direct assay	30745215	GOA
is active in sperm fibrous sheath	IDA IDA: Inferred from direct assay	9822690	GOA
is active in sperm flagellum	IDA IDA: Inferred from direct assay	34415320	GOA
located in sperm head-tail coupling apparatus	IDA IDA: Inferred from direct assay	30745215	GOA
located in sperm midpiece	IDA IDA: Inferred from direct assay	30745215	GOA
located in sperm principal piece	IDA IDA: Inferred from direct assay	30137358	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AKAP4 Protein Structure

RII_binding_1

AKAP_110

0
200
400
600
800
854 a.a.

Protein Preferred Names	Protein Names
A-kinase anchor protein 4	A kinase (PRKA) anchor protein 4

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 70	RP70 Retinitis Pigmentosa, Type 70
Spermatogenic Failure 9	Male Infertility Due To Globozoospermia SPGF9 Male Infertility Due To Round-Headed Spermatozoa Globozoospermia, Complete Globozoospermia, Total Globozoospermia Globozoospermia Syndrome Round-Headed Sperm Syndrome Globozoospermia Complete Globozoospermia Total
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Oligoasthenoteratozoospermia	Oat Oligoasthenoteratospermia
Vas Deferens, Congenital Bilateral Aplasia Of	Congenital Bilateral Absence Of Vas Deferens CBAVD Cavd Congenital Bilateral Aplasia Of Vas Deferens Congenital Bilateral Absence Of The Vas Deferens Congenital Bilateral Agenesis Of Vas Deferens Absence Of Vas Deferens Absent Vasa Congenital Absence Of Vas Deferens Congenital Aplasia Of Vas Deferens Absent Vas Deferens Vas Deferens, Congenital Bilateral Absence
Pelvic Varices	Varix Of Pelvis Pelvic Varicose Vein
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00519	AKAP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AKAP4	RGD	RGD:620828
Mus musculus	AKAP4	MGD	MGI:102794
Canis familiaris	AKAP4	VGNC	VGNC:37757
Bos taurus	AKAP4	VGNC	VGNC:25785
Felis catus	AKAP4	VGNC	VGNC:59714
Macaca mulatta	AKAP4	VGNC	VGNC:69770
Others	AKAP4	NCBI