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
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

Genomic context

Location:: Xp11.22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	X	NC_000023.11 (50190777..50201007, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (49955411..49965664, 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 FunctionsWhat's a GeneRIF?

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
the physiological role of the negative crosstalk between the cAMP/PKA/AKAP4 and the PKC/ERK1/2 pathways is to regulate capacitation and acrosome reaction.
Title: A-Kinase Anchoring Protein 4 (AKAP4) is an ERK1/2 substrate and a switch molecule between cAMP/PKA and PKC/ERK1/2 in human spermatozoa.
AKAP4 role in the proliferation and metastasis of thyroid cancer.AKAP4 is highly expressed in thyroid cancer.
Title: Silencing of A-Kinase Anchor Protein 4 (AKAP4) Inhibits Proliferation and Progression of Thyroid Cancer.
AKAP4 appears to be a novel Colorectal cancer-associated antigen with a potential for developing as a new clinical therapeutic target
Title: A-kinase anchor protein 4 (AKAP4) a promising therapeutic target of colorectal cancer.
AKAP4 is a highly accurate biomarker for the detection of early stage lung cancer.
Title: AKAP4 is a circulating biomarker for non-small cell lung cancer.
SP17/AKAP4/PTTG1 are expressed in both human NSCLC cell lines and primary tumors and can elicit an immunogenic response in lung cancer patients.
Title: Novel antigens in non-small cell lung cancer: SP17, AKAP4, and PTTG1 are potential immunotherapeutic targets.
The putative role of AKAP4 in early tumorigenesis is implicated as a biomarker and immunotherapeutic target for cervical cancer.
Title: Expression and humoral response of A-kinase anchor protein 4 in cervical cancer.
Ablation of AKAP4 protein caused significant inhibition in cellular proliferation, colony-forming ability, migration and invasion ability of tumor cells.
Title: Gene silencing of A-kinase anchor protein 4 inhibits cervical cancer growth in vitro and in vivo.
data suggests that AKAP4 may be used as serum based diagnostic test for an early detection and diagnosis of breast cancer and may be a potential target for immunotherapeutic use
Title: A novel cancer testis antigen, A-kinase anchor protein 4 (AKAP4) is a potential biomarker for breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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)

Pathways from BioSystems

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G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...

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: 124 organisms have orthologs with human gene AKAP4
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase A binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein kinase A binding	ISS Inferred from Sequence or Structural Similarity more info

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

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

5001..15246

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

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