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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
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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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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

Gene LinkOut

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