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

    Gene ID: 8852, updated on 19-Sep-2024

    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
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    Genomic context

    See AKAP4 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (50190777..50201007, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (49508429..49518665, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49955420..49965658, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chloride voltage-gated channel 5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:49809130-49809715 Neighboring gene microRNA 502 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696 Neighboring gene peptide YY 3 (pseudogene) Neighboring gene cyclin B3 Neighboring gene diacylglycerol kinase kappa Neighboring gene Sharpr-MPRA regulatory region 2913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:50212987-50213784

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    enables protein kinase A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cell surface receptor protein serine/threonine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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 spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    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
     
    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 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    is_active_in sperm fibrous sheath IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm head-tail coupling apparatus IDA
    Inferred from Direct Assay
    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
     
    located_in sperm principal piece IDA
    Inferred from Direct Assay
    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)

    NEW Try the new Transcript table

    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
      5007..15237
      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
      A0AV85, O60904, O95246, Q5JQC9, Q5JQD1, Q5JQD2, Q5JQD3
      UniProtKB/TrEMBL
      A0A384MQY7, A8K8U8
      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/TrEMBL
      A8K8U8
      Related
      ENSP00000365232.3, ENST00000376064.7
      Conserved Domains (1) summary
      smart00807
      Location:5845
      AKAP_110; A-kinase anchor protein 110 kDa

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      49508429..49518665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)