AKAP3 A-kinase anchoring protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP3provided by HGNC
Official Full Name: A-kinase anchoring protein 3provided by HGNC
Primary source: HGNC:HGNC:373
See related: Ensembl:ENSG00000111254 MIM:604689; AllianceGenome:HGNC:373
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT82; SOB1; FSP95; PRKA3; HEL159; SPGF82; AKAP110; AKAP 110
Summary: This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
Expression: Restricted expression toward testis (RPKM 61.9) See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (4615518..4649051, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (4622335..4655891, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (4724684..4758217, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility.
Title: Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility.
The cancer-testis antigen a-kinase anchor protein 3 facilitates breast cancer progression via activation of the PTEN/PI3K/AKT/mTOR signaling.
Title: The cancer-testis antigen a-kinase anchor protein 3 facilitates breast cancer progression via activation of the PTEN/PI3K/AKT/mTOR signaling.
Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility.
Title: Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility.
Protein Kinase A (PRKA) Activity Is Regulated by the Proteasome at the Onset of Human Sperm Capacitation.
Title: Protein Kinase A (PRKA) Activity Is Regulated by the Proteasome at the Onset of Human Sperm Capacitation.
The present study revealed that one of the major rHuOVGP1-enhanced pY proteins could be AKAP3 of the FS and that rHuOVGP1 is capable of binding to human ZP and its presence in the medium results in an increase in sperm-zona binding. Supplement of rHuOVGP1 in in vitro fertilization media could be beneficial for enhancement of the fertilizing ability of human sperm.
Title: Human OVGP1 enhances tyrosine phosphorylation of proteins in the fibrous sheath involving AKAP3 and increases sperm-zona binding.
AKAP3 correlates with triple negative status and disease free survival in breast cancer.
Title: AKAP3 correlates with triple negative status and disease free survival in breast cancer.
study reports the isolation of AKAP3 and CTp11 Cancer/testis antigens from hepatocellular carcinoma patient sera
Title: Identification of the cancer/testis antigens AKAP3 and CTp11 by SEREX in hepatocellular carcinoma.
CABYR variants form a complex not only with the scaffolding protein AKAP3 but also with another RII-like domain-containing protein in the sperm fibrous sheath.
Title: CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath.
AKAP3 is a novel target for protein S-nitrosylation in spermatozoa.
Title: Human spermatozoa contain multiple targets for protein S-nitrosylation: an alternative mechanism of the modulation of sperm function by nitric oxide?
AKAP-3 demonstrates tumor-restricted expression and appears to be associated with worse overall survival.
Title: A-kinase anchoring protein 3 messenger RNA expression correlates with poor prognosis in epithelial ovarian cancer.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 82 MedGen: C5830468 OMIM: 620353 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in acrosome reaction	TAS Traceable Author Statement more info	PubMed
involved_in blastocyst hatching	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in single fertilization	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed
located_in sperm fibrous sheath	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: A-kinase anchor protein 3

Names: A kinase (PRKA) anchor protein 3; A-kinase anchor protein, 110kDa; Fibrous Sheath Protein of 95 kDa; cancer/testis antigen 82; epididymis luminal protein 159; epididymis secretory sperm binding protein; fibrousheathin I; fibrousheathin-1; protein kinase A binding protein AKAP 110; protein kinase A-anchoring protein 3; sperm oocyte-binding protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001278309.2 → NP_001265238.2 A-kinase anchor protein 3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC005832

Consensus CDS

CCDS8531.1

UniProtKB/Swiss-Prot

O75945, O75969, Q86X01, Q9UM61

UniProtKB/TrEMBL

B3KQD0, V9HWD4

Related

ENSP00000228850.1, ENST00000228850.6

Conserved Domains (1) summary

smart00807
Location:5 → 853

AKAP_110; A-kinase anchor protein 110 kDa
NM_006422.4 → NP_006413.4 A-kinase anchor protein 3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC005832

Consensus CDS

CCDS8531.1

UniProtKB/Swiss-Prot

O75945, O75969, Q86X01, Q9UM61

UniProtKB/TrEMBL

B3KQD0, V9HWD4

Related

ENSP00000440994.1, ENST00000545990.6

Conserved Domains (1) summary

smart00807
Location:5 → 853

AKAP_110; A-kinase anchor protein 110 kDa