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

Summary

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 cell cycle G2/M phase transition; mitotic chromosome condensation; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 21.2), testis (RPKM 18.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15380050..15418988, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15505027..15543979, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15490861..15529799, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

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

RH103467 (e-PCR)
- UniSTS:97792

RH118841 (e-PCR)
- UniSTS:138823

RH103675 (e-PCR)
- UniSTS:98000

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 more info	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
located_in 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)

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)
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

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