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

Gene ID: 8852, updated on 17-Jun-2019

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

Genomic context

See AKAP4 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene chloride voltage-gated channel 5 Neighboring gene microRNA 502 Neighboring gene peptide YY 3 (pseudogene) Neighboring gene cyclin B3 Neighboring gene diacylglycerol kinase kappa

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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

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)

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

  1. NG_012552.2 RefSeqGene

    Range
    5001..15246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003886.3NP_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:14854
    AKAP_110; A-kinase anchor protein 110 kDa
  2. NM_139289.2NP_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:5845
    AKAP_110; A-kinase anchor protein 110 kDa

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    50190777..50201007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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