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AKAP17A Gene

protein-coding   GIFtS: 47
GCID: GC0XP001710

A Kinase (PRKA) Anchor Protein 17A

(Previous names: chromosome X and Y open reading frame 3, splicing factor,...)
(Previous symbols: CXYorf3, SFRS17A)
  See AKAP17A-related diseases
at  

(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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Aliases
A Kinase (PRKA) Anchor Protein 17A1 2     XE72 3
Splicing Factor, Arginine/Serine-Rich 17A1 2 3     Chromosome X And Y Open Reading Frame 31
CXYorf31 2 3     CCDC1332
SFRS17A1 2 3     XE7Y2
Protein Kinase A-Anchoring Protein 17A2 3     A-Kinase Anchor Protein 17A2
721P2 3     B-Lymphocyte Surface Antigen2
AKAP-17A2 3     Pseudoautosomal Gene XE72
DXYS155E2 3     B-Lymphocyte Antigen3
PRKA17A2 3     Protein XE73

External Ids:    HGNC: 187831   Entrez Gene: 82272   Ensembl: ENSG000001979767   OMIM: 312095,4650005   UniProtKB: Q020403   

Export aliases for AKAP17A gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AKAP17A Gene:
This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex
and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript
variants have been identified for this gene.(provided by RefSeq, Sep 2010)

GeneCards Summary for AKAP17A Gene:
AKAP17A (A kinase (PRKA) anchor protein 17A) is a protein-coding gene. Diseases associated with AKAP17A include chronic tic disorder, and tic disorder. GO annotations related to this gene include protein kinase A binding and RNA binding.

UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
Function: Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates
regulation of pre-mRNA splicing in a PKA-dependent manner

Gene Wiki entry for AKAP17A (SFRS17A) 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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Regulatory elements:
   Search for regulatory transcription factor binding sites for AKAP17A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AKAP17A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKAP17A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.33 and Yp11.32   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.33 and Yp11.32

AKAP17A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP17A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP001710:  view genomic region     (about GC identifiers)

Start:
1,710,486 bp from pter      End:
1,721,413 bp from pter
Size:
10,928 bases      Orientation:
plus strand

1 alternative location:
ChrY+ 1,660,486-1,671,413     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040 (See protein sequence)
Recommended Name: A-kinase anchor protein 17A  
Size: 695 amino acids; 80735 Da
Subunit: Monomer. Component of the spliceosome. Interacts with ZRANB2 and SFRS1/ASF through its Arg/Ser-rich
domain. Interacts with RI and RII subunits of PKA
Miscellaneous: The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y
chromosomes
Caution: Was originally (PubMed:1438229) thought to be a cell surface protein involved in B-cell activation
Sequence caution: Sequence=AAA36187.1; Type=Frameshift; Positions=461;
Secondary accessions: Q02832 Q2TB98 Q5JQ74 Q5JQ76 Q8N6U9
Alternative splicing: 3 isoforms:  Q02040-1   Q02040-2   Q02040-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKAP17A: NX_Q02040

Explore proteomics data for AKAP17A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AKAP17A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005079.2  
    ENSEMBL proteins: 
     ENSP00000324827   ENSP00000435479   ENSP00000370660  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PAR1: Pseudoautosomal regions / PAR1
    AKAP: A-kinase anchor proteins

    1 InterPro protein domain:
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q02040

    ProtoNet protein and cluster: Q02040

    UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
    Domain: RI-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein
    interactions with a complementary surface on the R-subunit dimer
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Find genes that share domains with AKAP17A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK17A_HUMAN, Q02040
    Function: Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates
    regulation of pre-mRNA splicing in a PKA-dependent manner

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI16982639
    GO:0044822poly(A) RNA binding IDA--
    GO:0051018protein kinase A binding IDA19840947
         
    Find genes that share ontologies with AKAP17A           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKAP17A
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    hsa-let-7a-5p (MIRT052445)

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    1 qRT-PCR Assays for microRNA that regulate AKAP17A:
    hsa-miR-32*
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AK17A_HUMAN, Q02040: Nucleus speckle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19840947
    GO:0005681spliceosomal complex IEA--
    GO:0016607nuclear speck IDA16982639

    Find genes that share ontologies with AKAP17A           About GenesLikeMe


    (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 GeneDecks, 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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKAP17A
    Interactions:

        Search GeneGlobe Interaction Network for AKAP17A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for AKAP17A (Q020401, 2, 3 ENSP000003248274) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66309 I2D: score=5 STRING: ENSP00000311695
    NINLQ9Y2I62, 3, ENSP000002788864MINT-66601 I2D: score=5 STRING: ENSP00000278886
    ZRANB2O952181, 3, ENSP000003599584EBI-1042725,EBI-1051583 I2D: score=2 STRING: ENSP00000359958
    MDFIQ997502, 3, ENSP000002303214MINT-66281 I2D: score=5 STRING: ENSP00000230321
    EIF4A2Q142403, ENSP000003263814I2D: score=2 STRING: ENSP00000326381
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated NAS1438229
    GO:0006397mRNA processing IEA--
    GO:0007165signal transduction NAS1438229
    GO:0008380RNA splicing IEA--
    GO:0042113B cell activation NAS1438229

    Find genes that share ontologies with AKAP17A           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for AKAP17A (AK17A)



    (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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    REFSEQ mRNAs for AKAP17A gene: 
    NM_005088.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313871(uc004cqa.3) ENST00000474361(uc004cqb.3) ENST00000381261(uc010ncx.1)

    miRNA
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    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidAKAP17A 3' UTR sequence
    Inhib. RNA
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    Selected AceView cDNA sequences (see all 301):

    AW978405 AI217889 AA975839 AI129402 BE646344 BM510017 BQ433141 NM_004043 
    AI083532 U11090 BX105929 CR620922 AI189957 AL041971 AI885136 AI433949 
    BQ930425 NM_005088 U11091 AI143357 AI810064 BE858964 AA768174 BC028151 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP17A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
    SP1:                                      -               
    SP2:                                                      
    SP3:                                -     -               


    ECgene alternative splicing isoforms for AKAP17A

    (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 GeneDecks, 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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    AKAP17A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTAGAGAT
    AKAP17A Expression
    About this image

    AKAP17A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKAP17A Protein Expression

    UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
    Tissue specificity: Widely expressed. Found in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.
    Expressed in activated B-cells and placenta. Expressed in all cell lines tested including Jurkat-TAg, U-937 and
    HEK293 cells

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    In Situ
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    (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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    This gene was present in the common ancestor of animals.

    Orthologs for AKAP17A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AKAP17A1 A kinase (PRKA) anchor protein 17A 67.08(n)
    75.27(a)
      418664  NM_001195550.1  NP_001182479.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKAP17A6
    A kinase (PRKA) anchor protein 17A
    89(a)
    1 ↔ 1
    3(112975877-113358806)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.321042 Xenopus laevis transcribed sequence with moderate similarity more 75.9(n)    BJ619586.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658882 hypothetical protein MGC65888 82.2(n)   393655  BC058319.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Xe76
    Xe7
    26(a)
    1 ↔ 1
    3R(1490861-1495051)
    worm
    (Caenorhabditis elegans)
    Secernentea cux-76
    Protein CUX-7 (cux-7) mRNA, complete cds
    36(a)
    1 ↔ 1
    III(7518628-7520805) WBGene00000854
            Species with no ortholog for AKAP17A

    ENSEMBL Gene Tree for AKAP17A (if available)
    TreeFam Gene Tree for AKAP17A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKAP17A gene
    1 SIMAP similar gene for AKAP17A using alignment to 1 protein entry:     AK17A_HUMAN:
    SFRS17A

    Find genes that share paralogs with AKAP17A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AKAP17A
    PGOHUM00000241516


    (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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    1 SNPs for AKAP17A    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs178525041,2,4
    ----see VAR_0553532 mis40--------

    HapMap Linkage Disequilibrium report for AKAP17A (1710486 - 1721413 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AKAP17A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739742CNV Deletion23290073
    esv2657890CNV Deletion23128226
    esv2739741CNV Deletion23290073
    esv2739739CNV Deletion23290073
    esv2314773CNV Deletion18987734
    esv29996CNV Loss17803354
    nsv510871CNV Loss20534489
    nsv510811CNV Loss20534489

    Locus Specific Mutation Databases (LSDB): AKAP17A

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    (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.)
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    OMIM gene information: 312095,465000    OMIM disorders: --

    2 diseases for AKAP17A:    
    About MalaCards
    chronic tic disorder    tic disorder

    2 diseases from the University of Copenhagen DISEASES database for AKAP17A:
    Chronic tic disorder     Rheumatic fever

    Find genes that share disorders with AKAP17A           About GenesLikeMe


    Export disorders for AKAP17A gene to outside databases

    (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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    PubMed articles for AKAP17A gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with AKAP17A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Splicing factor arginine/serine-rich 17A (SFRS17A) is an A-kinase anchoring protein that targets protein kinase A to splicing factor compartments. (PubMed id 19840947)1, 2, 3 Jarnaess E.... Tasken K. (J. Biol. Chem. 2009)
    2. Cloning and sequencing of a trophoblast-endothelial-activated lymphocyte surface protein: cDNA sequence and genomic structure. (PubMed id 1438229)1, 2, 3 Voland J.R.... Dutton R.W. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    3. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. (PubMed id 16982639)1, 2 Mangs A.H....Morris B.J. (Nucleic Acids Res. 2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. 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)
    6. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    7. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. (PubMed id 9736779)1, 3 Ried K.... Rappold G.A. (Hum. Mol. Genet. 1998)
    8. Structure and expression of the human pseudoautosomal gene XE7. (PubMed id 1302606)1, 2 Ellison J.W.... Shapiro L.J. (Hum. Mol. Genet. 1992)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8227 HGNC: 18783 AceView: ASMT.1 Ensembl:ENSG00000197976 euGenes: HUgn8227
    ECgene: AKAP17A H-InvDB: AKAP17A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AKAP17A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AKAP17A gene:
    Search GeneIP for patents involving AKAP17A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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, LSBio, eBioscience, 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
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