Aliases for AKAP8L Gene

Aliases for AKAP8L Gene

  • A-Kinase Anchoring Protein 8 Like 2 3 5
  • NAKAP95 2 3 4
  • HAP95 2 3 4
  • A Kinase (PRKA) Anchor Protein 8-Like 2 3
  • A-Kinase Anchor Protein 8-Like 3 4
  • Homologous To AKAP95 Protein 3 4
  • AKAP8-Like Protein 3 4
  • Neighbor Of AKAP95 3 4
  • NAKAP 3 4
  • HA95 3 4
  • Testis Tissue Sperm-Binding Protein Li 90mP 3
  • Neighbor Of A Kinase Anchoring Protein 95 2
  • Neighbor Of A-Kinase Anchoring Protein 95 3
  • Neighbor Of A-Kinase-Anchoring Protein 95 4
  • Helicase A-Binding Protein 95 KDa 3
  • Helicase A-Binding Protein 95 4
  • AKAP8L 5

External Ids for AKAP8L Gene

Previous GeneCards Identifiers for AKAP8L Gene

  • GC19M015352
  • GC19M015353
  • GC19M015490
  • GC19M015058

Summaries for AKAP8L Gene

GeneCards Summary for AKAP8L Gene

AKAP8L (A-Kinase Anchoring Protein 8 Like) is a Protein Coding gene. Diseases associated with AKAP8L include Greenberg Dysplasia and Pelger-Huet Anomaly. Gene Ontology (GO) annotations related to this gene include DEAD/H-box RNA helicase binding. An important paralog of this gene is AKAP8.

UniProtKB/Swiss-Prot Summary for AKAP8L Gene

  • Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903).
  • (Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters.
  • (Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses.
  • (Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity.

Gene Wiki entry for AKAP8L Gene

Additional gene information for AKAP8L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKAP8L Gene

Genomics for AKAP8L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKAP8L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKAP8L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKAP8L

Top Transcription factor binding sites by QIAGEN in the AKAP8L gene promoter:
  • AREB6
  • c-Myb
  • Egr-2
  • GCNF
  • GCNF-1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • Zic3

Genomic Locations for AKAP8L Gene

Genomic Locations for AKAP8L Gene
chr19:15,380,050-15,419,141
(GRCh38/hg38)
Size:
39,092 bases
Orientation:
Minus strand
chr19:15,490,859-15,529,952
(GRCh37/hg19)
Size:
39,094 bases
Orientation:
Minus strand

Genomic View for AKAP8L Gene

Genes around AKAP8L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP8L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP8L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP8L Gene

Proteins for AKAP8L Gene

  • Protein details for AKAP8L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULX6-AKP8L_HUMAN
    Recommended name:
    A-kinase anchor protein 8-like
    Protein Accession:
    Q9ULX6
    Secondary Accessions:
    • B4DJ74
    • B5BU90
    • O94792
    • Q96J58
    • Q9NRQ0
    • Q9UGM0

    Protein attributes for AKAP8L Gene

    Size:
    646 amino acids
    Molecular mass:
    71640 Da
    Quaternary structure:
    • Interacts (via N-terminus) with DHX9 (via RGG region) (PubMed:10748171, PubMed:11402034). Interacts with TMPO isoform Beta, PRPF40A, RNF43, lamin-B (PubMed:11034899, PubMed:12538639 PubMed:16391387, PubMed:18313049). Interacts with HDAC3; increased during mitosis (PubMed:16980585). Interacts with EBV EBNA-LP (PubMed:11160753). Interacts with HIV-1 reverse transcriptase/ribonuclease H (PubMed:25034436).
    SequenceCaution:
    • Sequence=AAF86048.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA34791.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP8L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP8L Gene

Post-translational modifications for AKAP8L Gene

  • Phosphorylated on serine or threonine residues possibly by PKA; probably modulating the interaction with TMPO isoform Beta.
  • Ubiquitination at Lys257, Lys264, Lys448, and Lys533
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AKAP8L Gene

Domains & Families for AKAP8L Gene

Gene Families for AKAP8L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKAP8L Gene

InterPro:
Blocks:
  • A-kinase anchoring protein 95 (AKAP95)
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP8L Gene

GenScript: Design optimal peptide antigens:
  • Neighbor of A-kinase-anchoring protein 95 (AKP8L_HUMAN)
  • cDNA FLJ10732 fis, clone NT2RP3001384, highly similar to A-kinase anchor protein 8 (B3KMD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULX6

UniProtKB/Swiss-Prot:

AKP8L_HUMAN :
  • Belongs to the AKAP95 family.
Family:
  • Belongs to the AKAP95 family.
genes like me logo Genes that share domains with AKAP8L: view

Function for AKAP8L Gene

Molecular function for AKAP8L Gene

UniProtKB/Swiss-Prot Function:
Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses.
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity.

Phenotypes From GWAS Catalog for AKAP8L Gene

Gene Ontology (GO) - Molecular Function for AKAP8L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 11402034
GO:0005521 lamin binding IDA 11034899
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with AKAP8L: view
genes like me logo Genes that share phenotypes with AKAP8L: view

Animal Model Products

CRISPR Products

miRNA for AKAP8L Gene

miRTarBase miRNAs that target AKAP8L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAP8L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKAP8L Gene

Localization for AKAP8L Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP8L Gene

Nucleus. Nucleus matrix. Nucleus speckle. Nucleus, PML body. Cytoplasm. Note=Colocalizes with PRPF40A in the nuclear matrix (PubMed:16391387). Nuclear at steady state but shuttles between the nucleus and cytoplasm (PubMed:10748171). The shuttling property has been questioned (PubMed:11034899). Colocalizes with EBNA-LP in PML bodies (PubMed:11884601). {ECO:0000269 PubMed:10748171, ECO:0000269 PubMed:11034899, ECO:0000269 PubMed:11884601, ECO:0000269 PubMed:16391387}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKAP8L gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKAP8L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 11034899
GO:0005634 nucleus IEA,TAS 10761695
GO:0005737 cytoplasm IEA,IDA 11402034
GO:0016363 nuclear matrix IBA,IDA 11034899
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with AKAP8L: view

Pathways & Interactions for AKAP8L Gene

PathCards logo

SuperPathways for AKAP8L Gene

No Data Available

SIGNOR curated interactions for AKAP8L Gene

Activates:

Gene Ontology (GO) - Biological Process for AKAP8L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA,IDA 17594903
GO:0007076 mitotic chromosome condensation IMP 11034899
GO:0008380 RNA splicing IEA --
GO:0010793 regulation of mRNA export from nucleus IDA 11402034
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with AKAP8L: view

No data available for Pathways by source for AKAP8L Gene

Drugs & Compounds for AKAP8L Gene

No Compound Related Data Available

Transcripts for AKAP8L Gene

mRNA/cDNA for AKAP8L Gene

2 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAP8L

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP8L Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - -
SP6: - -
SP7: -
SP8: - - - - - - -
SP9: - - -
SP10: - -
SP11: - - -
SP12: -
SP13:

ExUns: 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for AKAP8L Gene

GeneLoc Exon Structure for
AKAP8L

Expression for AKAP8L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKAP8L Gene

Protein differential expression in normal tissues from HIPED for AKAP8L Gene

This gene is overexpressed in Bone (16.6), Lung (8.6), Testis (8.1), Peripheral blood mononuclear cells (7.4), and Adrenal (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKAP8L Gene



Protein tissue co-expression partners for AKAP8L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKAP8L

SOURCE GeneReport for Unigene cluster for AKAP8L Gene:

Hs.399800

mRNA Expression by UniProt/SwissProt for AKAP8L Gene:

Q9ULX6-AKP8L_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed in the brain cortex (at protein level).

Evidence on tissue expression from TISSUES for AKAP8L Gene

  • Nervous system(5)
  • Eye(3.5)
  • Intestine(2.7)
  • Lung(2.7)
  • Kidney(2.5)
  • Skin(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with AKAP8L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAP8L Gene

Orthologs for AKAP8L Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAP8L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AKAP8L 30 31
  • 97.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AKAP8L 30 31
  • 91.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AKAP8L 30 31
  • 88.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Akap8l 30 17 31
  • 87.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Akap8l 30
  • 87.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia AKAP8L 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AKAP8L 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AKAP8L 30 31
  • 69.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AKAP8L 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia akap8l 30
  • 57.32 (n)
Str.10140 30
Zebrafish
(Danio rerio)
Actinopterygii akap8l 31
  • 32 (a)
OneToOne
wufc52f04 30
Species where no ortholog for AKAP8L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AKAP8L Gene

ENSEMBL:
Gene Tree for AKAP8L (if available)
TreeFam:
Gene Tree for AKAP8L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKAP8L: view image

Paralogs for AKAP8L Gene

Paralogs for AKAP8L Gene

(1) SIMAP similar genes for AKAP8L Gene using alignment to 8 proteins:

  • AKP8L_HUMAN
  • B3KMD4_HUMAN
  • M0QYT7_HUMAN
  • M0R008_HUMAN
  • M0R010_HUMAN
  • M0R1L5_HUMAN
  • M0R1Y5_HUMAN
  • V9GZ50_HUMAN
genes like me logo Genes that share paralogs with AKAP8L: view

Variants for AKAP8L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKAP8L Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
741278 Likely Benign: not provided 15,401,047(-) G/A INTRON_VARIANT
748531 Likely Benign: not provided 15,380,164(-) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
768976 Benign: not provided 15,399,408(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
782324 Benign: not provided 15,401,582(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs2058322 - p.Gln458His

Additional dbSNP identifiers (rs#s) for AKAP8L Gene

Structural Variations from Database of Genomic Variants (DGV) for AKAP8L Gene

Variant ID Type Subtype PubMed ID
esv3643769 CNV loss 21293372
nsv1064684 CNV gain 25217958
nsv828465 CNV gain 20364138
nsv833765 CNV loss 17160897

Variation tolerance for AKAP8L Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 25.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKAP8L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP8L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP8L Gene

Disorders for AKAP8L Gene

MalaCards: The human disease database

(3) MalaCards diseases for AKAP8L Gene - From: DISEASES

Disorder Aliases PubMed IDs
greenberg dysplasia
  • grbgd
pelger-huet anomaly
  • pha
cardiomyopathy, dilated, 1a
  • cmd1a
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with AKAP8L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKAP8L Gene

Publications for AKAP8L Gene

  1. A novel shuttle protein binds to RNA helicase A and activates the retroviral constitutive transport element. (PMID: 10748171) Westberg C … Wong-Staal F (The Journal of biological chemistry 2000) 2 3 4 23
  2. Identification, cloning and characterization of a novel nuclear protein, HA95, homologous to A-kinase anchoring protein 95. (PMID: 10761695) Orstavik S … Skålhegg BS (Biology of the cell 2000) 2 3 4 23
  3. A novel histone deacetylase pathway regulates mitosis by modulating Aurora B kinase activity. (PMID: 16980585) Li Y … Lazar MA (Genes & development 2006) 3 4 23
  4. In vitro modulation of the interaction between HA95 and LAP2beta by cAMP signaling. (PMID: 12950172) Martins SB … Collas P (Biochemistry 2003) 3 4 23
  5. cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 region. (PMID: 10697960) Seki N … Muramatsu M (Journal of human genetics 2000) 3 4 23

Products for AKAP8L Gene

  • Signalway Proteins for AKAP8L

Sources for AKAP8L Gene