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

    Gene ID: 10566, updated on 2-Nov-2024

    Summary

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    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

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    See AKAP3 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4615518..4649051, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4622335..4655891, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4724684..4758217, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4647880-4648488 Neighboring gene RAD51 associated protein 1 Neighboring gene Sharpr-MPRA regulatory region 10040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5826 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene coiled-coil domain containing 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5827 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:4739222-4740085 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742144-4742644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742645-4743145 Neighboring gene RAB5A, member RAS oncogene family pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4758050-4758705 Neighboring gene NADH:ubiquinone oxidoreductase subunit A9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4828687-4829682 Neighboring gene GALNT8 antisense upstream 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility. Rafaee A, et al. Sci Rep, 2022 Mar 7. PMID 35256641, Free PMC Article
    2. Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility. Liu C, et al. J Med Genet, 2023 Feb. PMID 35228300
    3. Cloning and characterization of SOB1, a new testis-specific cDNA encoding a human sperm protein probably involved in oocyte recognition. Lefevre A, et al. Biochem Biophys Res Commun, 1999 May 27. PMID 10334916
    4. FSP95, a testis-specific 95-kilodalton fibrous sheath antigen that undergoes tyrosine phosphorylation in capacitated human spermatozoa. Mandal A, et al. Biol Reprod, 1999 Nov. PMID 10529264
    5. A-kinase anchoring protein 3 messenger RNA expression in ovarian cancer and its implication on prognosis. Hasegawa K, et al. Int J Cancer, 2004 Jan 1. PMID 14618620

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility.
      Title: Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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?
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 establishment of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    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 PubMed 
    is_active_in sperm fibrous sheath ISS
    Inferred from Sequence or Structural Similarity
    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)

    1. 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

    2. 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

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      4615518..4649051 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      4622335..4655891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75969.2 GenPept UniProtKB/Swiss-Prot:O75969

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