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AKAP8L A-kinase anchoring protein 8 like [ Homo sapiens (human) ]

Gene ID: 26993, updated on 7-Apr-2024

Summary

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Official Symbol
AKAP8Lprovided by HGNC
Official Full Name
A-kinase anchoring protein 8 likeprovided by HGNC
Primary source
HGNC:HGNC:29857
See related
Ensembl:ENSG00000011243 MIM:609475; AllianceGenome:HGNC:29857
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HA95; HAP95; NAKAP; NAKAP95
Summary
Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including mitotic chromosome condensation; regulation of histone modification; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 21.2), testis (RPKM 18.0) and 25 other tissues See more
Orthologs
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Genomic context

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See AKAP8L in Genome Data Viewer
Location:
19p13.12
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (15380050..15418988, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15505027..15543979, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15490861..15529799, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene epoxide hydrolase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15361355-15362226 Neighboring gene bromodomain containing 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:15373316-15373494 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:15374509-15375008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15376180-15376680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:15385287-15385786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15409795-15410322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15410749-15411456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10274 Neighboring gene uncharacterized LOC124904643 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:15443616-15444232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14184 Neighboring gene A-kinase anchoring protein 8 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:15489739-15490654 and GRCh37_chr19:15490655-15491569 Neighboring gene NANOG hESC enhancer GRCh37_chr19:15523607-15524136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15524849-15525350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15525351-15525850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15542458-15543056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10280 Neighboring gene WIZ zinc finger Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14187 Neighboring gene microRNA 1470 Neighboring gene RAS protein activator like 3

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
  • 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. AKAP8L enhances the stemness and chemoresistance of gastric cancer cells by stabilizing SCD1 mRNA. Zhang R, et al. Cell Death Dis, 2022 Dec 15. PMID 36522343, Free PMC Article
  2. Novel prognostic model predicts overall survival in colon cancer based on RNA splicing regulation gene expression. Luo QY, et al. Cancer Sci, 2022 Oct. PMID 35792657, Free PMC Article
  3. A-kinase anchoring protein 8L interacts with mTORC1 and promotes cell growth. Melick CH, et al. J Biol Chem, 2020 Jun 5. PMID 32312749, Free PMC Article
  4. Identification, cloning and characterization of a novel nuclear protein, HA95, homologous to A-kinase anchoring protein 95. Orstavik S, et al. Biol Cell, 2000 Jan. PMID 10761695
  5. cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 region. Seki N, et al. J Hum Genet, 2000. PMID 10697960

See all (144) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrative analysis identifies AKAP8L as an immunological and prognostic biomarker of pan-cancer.
    Title: Integrative analysis identifies AKAP8L as an immunological and prognostic biomarker of pan-cancer.
  2. AKAP8L enhances the stemness and chemoresistance of gastric cancer cells by stabilizing SCD1 mRNA.
    Title: AKAP8L enhances the stemness and chemoresistance of gastric cancer cells by stabilizing SCD1 mRNA.
  3. Novel prognostic model predicts overall survival in colon cancer based on RNA splicing regulation gene expression.
    Title: Novel prognostic model predicts overall survival in colon cancer based on RNA splicing regulation gene expression.
  4. A-kinase anchoring protein 8L interacts with mTORC1 and promotes cell growth.
    Title: A-kinase anchoring protein 8L interacts with mTORC1 and promotes cell growth.
  5. Gene dosage at 19p13.12, and AKAP8 and/or AKAP8L in particular, play an important role in modulation of head size and may contribute to autism risk.
    Title: Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
  6. These results infer that RNF43 is a resident protein of the ER and, at least partially, the nuclear membrane, with ubiquitin ligase activity and may be involved in cell growth control potentially through the interaction with HAP95.
    Title: A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that interacts with a nuclear protein, HAP95.
  7. Nuclear PKA C subunit co-locates with HA95 in splicing factor compartments and regulates pre-mRNA splicing, possibly through a cAMP-independent mechanism.
    Title: Involvement of the catalytic subunit of protein kinase A and of HA95 in pre-mRNA splicing.
  8. Results indicate that in vitro, the interaction between HA95 and LAP2beta is influenced by a PKA-mediated phosphorylation of HA95 rather than by CDK1- or PKC-mediated phosphorylation of LAP2beta
    Title: In vitro modulation of the interaction between HA95 and LAP2beta by cAMP signaling.
  9. NAKAP-HypA scaffold is a potential nuclear docking site for huntingtin protein and may contribute to the nuclear accumulation of huntingtin observed in HD
    Title: Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis.
Submit: New GeneRIF Correction

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

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pol gag-pol HAP95 is incorporated into HIV-1 Gag/Gag-Pol virus-like particle instead of HIV-1 Gag virus-like particle, suggesting a role of Pol in the incorporation of HAP95 into virus particles PubMed
Vif vif HIV-1 Vif is identified to have a physical interaction with A kinase (PRKA) anchor protein 8-like (AKAP8L) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
reverse transcriptase gag-pol Co-immunoprecipitation assay demonstrates that HIV-1 RT/p66 associates with HAP95 in vitro PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp434L0650

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DEAD/H-box RNA helicase binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables histone deacetylase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables lamin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase A regulatory subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in cell cycle G2/M phase transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitotic chromosome condensation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear membrane disassembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mRNA export from nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in PML body IEA
Inferred from Electronic Annotation
more info
  
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nuclear matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
A-kinase anchor protein 8-like
Names
A kinase (PRKA) anchor protein 8-like
AKAP8-like protein
helicase A-binding protein 95 kDa
homologous to AKAP95 protein
neighbor of A-kinase anchoring protein 95
neighbor of AKAP95
testis tissue sperm-binding protein Li 90mP

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_001291478.2 → NP_001278407.1  A-kinase anchor protein 8-like isoform 2

    See identical proteins and their annotated locations for NP_001278407.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK295956, BQ006924
    Consensus CDS
    CCDS77249.1
    UniProtKB/TrEMBL
    A0A7P0TAE3
    Related
    ENSP00000470952.1, ENST00000595465.6
    Conserved Domains (1) summary
    pfam04988
    Location:328 → 492
    AKAP95; A-kinase anchoring protein 95 (AKAP95)

  2. NM_014371.4 → NP_055186.3  A-kinase anchor protein 8-like isoform 1

    See identical proteins and their annotated locations for NP_055186.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ243467, BQ006924, DA315789
    Consensus CDS
    CCDS46005.1
    UniProtKB/Swiss-Prot
    B4DJ74, B5BU90, O94792, Q96J58, Q9NRQ0, Q9UGM0, Q9ULX6
    UniProtKB/TrEMBL
    A0A140VKH3
    Related
    ENSP00000380557.3, ENST00000397410.10
    Conserved Domains (1) summary
    pfam04988
    Location:389 → 553
    AKAP95; A-kinase anchoring protein 95 (AKAP95)

RNA

  1. NR_111971.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate segment and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK094736, BF973758, BQ006924, CD244113, DA315789
    Related
    ENST00000609519.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    15380050..15418988 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    15505027..15543979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULX6.4 GenPept UniProtKB/Swiss-Prot:Q9ULX6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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