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AKAP7 A-kinase anchoring protein 7 [ Homo sapiens (human) ]

Gene ID: 9465, updated on 7-Jun-2020

Summary

Official Symbol
AKAP7provided by HGNC
Official Full Name
A-kinase anchoring protein 7provided by HGNC
Primary source
HGNC:HGNC:377
See related
Ensembl:ENSG00000118507 MIM:604693
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
AKAP15; AKAP18
Summary
This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
Expression
Broad expression in adrenal (RPKM 12.1), duodenum (RPKM 4.2) and 23 other tissues See more
Orthologs

Genomic context

See AKAP7 in Genome Data Viewer
Location:
6q23.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (131125698..131283534)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131456826..131604675)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 like 2 Neighboring gene small leucine rich protein 1 Neighboring gene uncharacterized LOC105378004 Neighboring gene uncharacterized LOC102723445 Neighboring gene double PHD fingers 2 pseudogene Neighboring gene uncharacterized LOC107986643 Neighboring gene uncharacterized LOC105378005

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase A binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A regulatory subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of protein kinase A signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
A-kinase anchoring protein 7
Names
A kinase (PRKA) anchor protein 7
A-kinase anchor protein 18 kDa
A-kinase anchor protein 9 kDa
AKAP 18

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_029123.1 RefSeqGene

    Range
    4782..152847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001376570.1NP_001363499.1  A-kinase anchoring protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL136110, AL137063, AL137222
    Related
    ENSP00000441048.1, ENST00000541650.5
  2. NM_004842.4NP_004833.1  A-kinase anchoring protein 7 isoform alpha

    See identical proteins and their annotated locations for NP_004833.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) encodes isoform alpha.
    Source sequence(s)
    BC063499, BC118601
    Consensus CDS
    CCDS5143.1
    UniProtKB/Swiss-Prot
    O43687
    UniProtKB/TrEMBL
    Q2TAJ5, Q6P4D3
    Related
    ENSP00000345149.4, ENST00000342266.4
    Conserved Domains (1) summary
    pfam10470
    Location:2379
    AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein
  3. NM_016377.4NP_057461.2  A-kinase anchoring protein 7 isoform gamma

    See identical proteins and their annotated locations for NP_057461.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (gamma) differs in he 5' UTR and has multiple difference in the coding region, compared to variant alpha. The encoded isoform (gamma) is longer and has a distinct N-terminus, compared to isoform alpha.
    Source sequence(s)
    AK300587, AL137222, BC110897, DN998807
    Consensus CDS
    CCDS5142.2
    UniProtKB/Swiss-Prot
    Q9P0M2
    UniProtKB/TrEMBL
    Q2TAJ5
    Related
    ENSP00000405252.2, ENST00000431975.7
    Conserved Domains (3) summary
    PLN00108
    Location:87281
    PLN00108; unknown protein; Provisional
    pfam10469
    Location:85283
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
    pfam10470
    Location:290346
    AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein
  4. NM_138633.3NP_619539.1  A-kinase anchoring protein 7 isoform beta

    See identical proteins and their annotated locations for NP_619539.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (beta) uses an alternate in-frame exon, compared to variant alpha. The encoded isoform (beta) is longer than isoform alpha.
    Source sequence(s)
    AK290271, BC110897, DA144596
    Consensus CDS
    CCDS5144.1
    UniProtKB/Swiss-Prot
    O43687
    UniProtKB/TrEMBL
    Q2TAJ5
    Related
    ENSP00000418208.2, ENST00000474850.2
    Conserved Domains (1) summary
    pfam10470
    Location:46102
    AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein

RNA

  1. NR_164832.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136110, AL137063, AL137222
  2. NR_164833.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136110, AL137063, AL137222
  3. NR_164834.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL136110, AL137063, AL137222

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    131125698..131283534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011509.1XP_016866998.1  A-kinase anchoring protein 7 isoform X7

  2. XM_017011506.1XP_016866995.1  A-kinase anchoring protein 7 isoform X2

  3. XM_011536262.1XP_011534564.1  A-kinase anchoring protein 7 isoform X3

    Conserved Domains (2) summary
    PLN00108
    Location:87281
    PLN00108; unknown protein; Provisional
    pfam10469
    Location:85283
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  4. XM_006715614.2XP_006715677.1  A-kinase anchoring protein 7 isoform X5

    Conserved Domains (1) summary
    pfam10469
    Location:85239
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  5. XM_024446589.1XP_024302357.1  A-kinase anchoring protein 7 isoform X4

    Conserved Domains (1) summary
    pfam10469
    Location:85229
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  6. XM_017011507.1XP_016866996.1  A-kinase anchoring protein 7 isoform X5

    Conserved Domains (1) summary
    pfam10469
    Location:85239
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  7. XM_005267229.4XP_005267286.1  A-kinase anchoring protein 7 isoform X8

    Conserved Domains (2) summary
    PLN00108
    Location:65259
    PLN00108; unknown protein; Provisional
    pfam10469
    Location:63261
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  8. XM_017011510.1XP_016866999.1  A-kinase anchoring protein 7 isoform X9

  9. XM_017011511.2XP_016867000.1  A-kinase anchoring protein 7 isoform X9

RNA

  1. XR_002956318.1 RNA Sequence

  2. XR_942636.2 RNA Sequence

  3. XR_001743754.2 RNA Sequence

  4. XR_001743755.2 RNA Sequence

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