AKAP4 A-kinase anchoring protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP4provided by HGNC
Official Full Name: A-kinase anchoring protein 4provided by HGNC
Primary source: HGNC:HGNC:374
See related: Ensembl:ENSG00000147081 MIM:300185; AllianceGenome:HGNC:374
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: HI; p82; CT99; FSC1; PRKA4; AKAP-4; AKAP82; AKAP 82; hAKAP82
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]
Expression: Restricted expression toward testis (RPKM 101.7) See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (50190777..50201007, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (49508429..49518665, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (49955420..49965658, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Identification of CD8(+) T-cell epitope from multiple myeloma-specific antigen AKAP4.
Title: Identification of CD8+ T-cell epitope from multiple myeloma-specific antigen AKAP4.
Silencing of A-kinase anchor protein 4 inhibits the metastasis and growth of non-small cell lung cancer.
Title: Silencing of A-kinase anchor protein 4 inhibits the metastasis and growth of non-small cell lung cancer.
Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
Title: Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
A new hemizygous missense mutation, c.454TC (p.S152P), in AKAP4 gene is associated with asthenozoospermia.
Title: A new hemizygous missense mutation, c.454T＞C (p.S152P), in AKAP4 gene is associated with asthenozoospermia.
A-kinase anchor protein 4 downregulation inhibits various malignant properties and enhances the cytotoxic effect of paclitaxel, and this combinatorial approach could be useful for triple-negative breast cancer treatment.
Title: Knockdown of A-kinase anchor protein 4 inhibits proliferation of triple-negative breast cancer cells in vitro and in vivo.
Knockdown of AKAP4 inhibits hypoxia-induced epithelial-mesenchymal transition in human gastric cancer cells, at least in part, via inactivation of the Wnt/beta-catenin signaling pathway.
Title: Knockdown of A-kinase anchor protein 4 inhibits hypoxia-induced epithelial-to-mesenchymal transition via suppression of the Wnt/β-catenin pathway in human gastric cancer cells.
pro-AKAP4 protein in the fibrous sheath of human ejaculated spermatozoa and in elongating/elongated spermatids in the human testis. In normozoospermia, there were high interindividual variations in pro-AKAP4 levels, and these latter were associated with sperm motility.
Title: A-kinase anchor protein 4 precursor (pro-AKAP4) in human spermatozoa.
This study showed the role of Lactobacilli in down-regulation of TSGA10, AURKC, OIP5 and AKAP4 genes. Such expression change might be involved in the anticancer effects of these Lactobacilli. The underlying mechanisms of these observations are not clear but epigenetic modulatory mechanisms may participate in this process.
Title: Down-regulation of TSGA10, AURKC, OIP5 and AKAP4 genes by Lactobacillus rhamnosus GG and Lactobacillus crispatus SJ-3C-US supernatants in HeLa cell line.
High AKAP4 expression is associated with reduced sperm motility.
Title: RNASET2 impairs the sperm motility via PKA/PI3K/calcium signal pathways.
A significant association was found between AKAP4 gene expression and metastasis (P-value: 0.045), expression of the CTAG1B (NY-ESO-1) gene was not observed in our cases.
Title: AKAP4, SPAG9 and NY-ESO-1 in Iranian Colorectal Cancer Patients as Probable Diagnostic and Prognostic Biomarkers

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

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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Markers

RH92753 (e-PCR)
- UniSTS:90209

AKAP4 (e-PCR)
- UniSTS:506568

Homology

Homologs of the AKAP4 gene: The AKAP4 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 198 organisms have orthologs with human gene AKAP4
Orthologs

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	PubMed
enables protein kinase A binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in single fertilization	TAS Traceable Author Statement more info	PubMed
involved_in sperm flagellum assembly	IEA Inferred from Electronic Annotation more info
involved_in transmembrane receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
part_of cAMP-dependent protein kinase complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in sperm connecting piece	IDA Inferred from Direct Assay more info	PubMed
located_in sperm end piece	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm fibrous sheath	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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 4

Names: A kinase (PRKA) anchor protein 4; A-kinase anchor protein 82 kDa; cancer/testis antigen 99; epididymis secretory sperm binding protein; major sperm fibrous sheath protein; protein kinase A anchoring protein 4; testis-specific gene HI

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.

Genomic

NG_012552.2 RefSeqGene

Range

5007..15237

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003886.3 → NP_003877.2 A-kinase anchor protein 4 isoform 1

See identical proteins and their annotated locations for NP_003877.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) includes an alternate 5' exon and encodes a longer isoform, as compared to variant 2.

Source sequence(s)

AC235789

Consensus CDS

CCDS14329.1

UniProtKB/Swiss-Prot

Q5JQC9, Q5JQD3

UniProtKB/TrEMBL

A0A384MQY7

Related

ENSP00000351327.2, ENST00000358526.7

Conserved Domains (1) summary

smart00807
Location:14 → 854

AKAP_110; A-kinase anchor protein 110 kDa
NM_139289.2 → NP_647450.1 A-kinase anchor protein 4 isoform 2

See identical proteins and their annotated locations for NP_647450.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate 5' exon, which lacks an ATG start codon, as compared to variant 1. This variant uses a downstream in-frame start codon, and thus encodes a shorter isoform.

Source sequence(s)

AC235789

Consensus CDS

CCDS14330.1

UniProtKB/Swiss-Prot

Q5JQC9

Related

ENSP00000365232.3, ENST00000376064.7

Conserved Domains (1) summary

smart00807
Location:5 → 845

AKAP_110; A-kinase anchor protein 110 kDa