AKAP8L Gene

Aliases
for AKAP8L gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC19M015352 GC19M015353 GC19M015058

Summaries
for AKAP8L gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for AKAP8L gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000019.9  NT_011295.12  NC_018930.2  

SwitchGear Promoter luciferase reporter plasmid: AKAP8L promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKAP8L

AKAP8L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M015490:  view genomic region     (about GC identifiers)

Proteins
for AKAP8L gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for AKAP8L: NX_Q9ULX6

Explore proteomics data for AKAP8L at MOPED

Post-translational modifications: 

AKAP8L Human Recombinant Protein Products:

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	antibodies-online peptides for AKAP8L

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Domains /
Families
for AKAP8L gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9ULX6

Find genes that share domains with AKAP8L           About GenesLikeMe

Function
for AKAP8L gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 5 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for AKAP8L

miRNA Products:		miRTarBase miRNAs that target AKAP8L: hsa-mir-378a-5p (MIRT043966), hsa-mir-615-3p (MIRT040300), hsa-mir-31-5p (MIRT049869)
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for AKAP8L

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		Addgene plasmids for AKAP8L

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP8L

Localization
for AKAP8L gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
cytosol	3

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for AKAP8L gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for AKAP8L About     See pathways by source

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	SuperPath	Contained pathways About
1	Epstein-Barr virus infection	Epstein-Barr virus infection

1 Kegg Pathway  (Kegg details for AKAP8L)

Epstein-Barr virus infection

Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for AKAP8L gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for AKAP8L gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for AKAP8L gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AKAP8L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGGCCCGCA

About this image

Brain (Nervous System)    fully expand to see all 4 entries
Cerebral Cortex
Ovary (Reproductive System)    fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct
Testis (Reproductive System)
Leydig Cells Testis Interstitium
Bone (Muscoskeletal System)
Bone Marrow
Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP8L

Orthologs
for AKAP8L gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for AKAP8L gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for AKAP8L gene

AKAP8²  ZNF326²  

1 SIMAP similar gene for AKAP8L using alignment to 8 protein entries:     AKP8L_HUMAN (see all proteins):

DKFZp434L0650

Find genes that share paralogs with AKAP8L           About GenesLikeMe

Genomic Variants
for AKAP8L gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AKAP8L (see all 716)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs23662671,2	C,F,A,H	--	15492848(-)	ACCCAG/ACAGTG	1	--	int1		26		NS EA NA WA	2498
rs1874041361,2		--	15492865(+)	GCTGTC/GGATAA	1	--	int1		0	--	--	--	--
rs1379604371,2		--	15492902(+)	TCCCAC/TGGCAT	1	--	int1		0	--	--	--	--
rs1927001761,2		--	15492903(+)	CCCACA/GGCATT	1	--	int1		0	--	--	--	--
rs1473737091,2	C	--	15493036(+)	TTTTT-/TAAAGAC	1	--	int1		0	--	--	--	--
rs353952011,2	C,F	--	15493037(+)	TTTTA-/AGACAG	1	--	int1		4		NA CSA	8
rs571327001,2	C	--	15493037(+)	TTTTTT/AAGACA	1	--	int1		2		NA WA	4
rs1834316401,2		--	15493399(+)	CATTAC/TACTTA	1	--	int1		0	--	--	--	--
rs798749501,2	C	--	15493461(+)	GCATTA/TACTTT	1	--	int1		0	--	--	--	--
rs751882261,2	F	--	15493548(+)	GCTGAT/CGCAGG	1	--	int1		1		WA	118

HapMap Linkage Disequilibrium report for AKAP8L (15490859 - 15529952 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for AKAP8L:    About this table    

Variant ID	Type	Subtype	PubMed ID
dgv3746n71	CNV	Loss	21882294
nsv911133	CNV	Loss	21882294
dgv3747n71	CNV	Loss	21882294
nsv833765	CNV	Loss	17160897
nsv828465	CNV	Gain	20364138

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing AKAP8L

DNA2.0 Custom Variant and Variant Library Synthesis for AKAP8L

Disorders / Diseases
for AKAP8L gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for AKAP8L gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Identification, cloning and characterization of a novel nuclear protein, HA95, homologous to A-kinase anchoring protein 95. (PubMed id 10761695)^{1, 2, 3, 9} Orstavik S.... Skalhegg B.S. (Biol. Cell 2000)
2. A novel shuttle protein binds to RNA helicase A and activates the retroviral constitutive transport element. (PubMed id 10748171)^{1, 2, 3, 9} Westberg C.... Wong-Staal F. (J. Biol. Chem. 2000)
3. In vitro modulation of the interaction between HA95 and LAP2beta by cAMP signaling. (PubMed id 12950172)^{1, 2, 9} Martins S.B.... Collas P. (Biochemistry 2003)
4. cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 region. (PubMed id 10697960)^{1, 2, 9} Seki N.... Muramatsu M.-A. (J. Hum. Genet. 2000)
5. A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that interacts with a nuclear protein, HAP95. (PubMed id 18313049)^{1, 2} Sugiura T.... Miyamoto K. (Exp. Cell Res. 2008)
6. Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. (PubMed id 16391387)^{1, 2} Sayer J.A.... Coghlan V.M. (NeuroMolecular Med. 2005)
7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
9. HA95 and LAP2 beta mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication. (PubMed id 12538639)^{1, 2} Martins S.... Collas P. (J. Cell Biol. 2003)
10. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)^{1, 2} Ueki N.... Muramatsu M.-A. (Nat. Biotechnol. 1998)

External Searches for AKAP8L gene

Genome Databases showing AKAP8L gene

Other Databases showing AKAP8L gene

Specialized Databases showing AKAP8L gene

Products
for AKAP8L gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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