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Aliases for AKAP17A Gene

Aliases for AKAP17A Gene

  • A-Kinase Anchoring Protein 17A 2 3 5
  • Splicing Factor, Arginine/Serine-Rich 17A 2 3 4
  • Protein Kinase A-Anchoring Protein 17A 3 4
  • A Kinase (PRKA) Anchor Protein 17A 2 3
  • AKAP-17A 3 4
  • DXYS155E 3 4
  • CXYorf3 3 4
  • SFRS17A 3 4
  • PRKA17A 3 4
  • 721P 3 4
  • XE7 3 4
  • Chromosome X And Y Open Reading Frame 3 2
  • B-Lymphocyte Surface Antigen 3
  • A-Kinase Anchor Protein 17A 3
  • Pseudoautosomal Gene XE7 3
  • B-Lymphocyte Antigen 4
  • Protein XE7 4
  • CCDC133 3
  • XE7Y 3

External Ids for AKAP17A Gene

Previous HGNC Symbols for AKAP17A Gene

  • CXYorf3
  • SFRS17A

Previous GeneCards Identifiers for AKAP17A Gene

  • GC0XP001710

Summaries for AKAP17A Gene

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 Anchoring Protein 17A) is a Protein Coding gene. Diseases associated with AKAP17A include Null-Cell Leukemia and Chronic Tic Disorder. GO annotations related to this gene include poly(A) RNA binding and protein kinase A binding.

UniProtKB/Swiss-Prot for AKAP17A Gene

  • 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 Gene

Additional gene information for AKAP17A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP17A Gene

Genomics for AKAP17A Gene

Regulatory Elements for AKAP17A Gene

Enhancers for AKAP17A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH001500 1.5 FANTOM5 Ensembl dbSUPER 16.1 -88.5 -88493 4 HDGF PKNOX1 ATF1 ZNF121 ZNF766 GATA2 ELK1 ZNF207 ATF7 RUNX3 P2RY8 AKAP17A CSF2RA IL3RA ASMTL ASMT CRLF2 SLC25A6
GH0XH001471 1.3 FANTOM5 Ensembl dbSUPER 16.9 -119.6 -119593 0 TBL1XR1 BACH1 EBF1 POLR2A EED ATF7 RUNX3 IKZF2 CREM CHD2 P2RY8 AKAP17A ASMTL ASMT CSF2RA
GH0XH001507 1.1 Ensembl dbSUPER 12.4 -83.6 -83613 0 HDGF TBL1XR1 ZNF143 ATF7 ETV6 RUNX3 IKZF2 CREM SMARCA5 CBFB AKAP17A P2RY8 ASMTL
GH0XH001246 0.9 Ensembl 13.3 -344.7 -344693 0 RB1 INSM2 KLF17 RAD21 RFX5 GTF3C2 ZNF143 RCOR1 RUNX3 ZNF654 AKAP17A CSF2RA CRLF2
GH0XH001477 0.9 dbSUPER 11.9 -113.6 -113637 1 HDAC1 PKNOX1 TBL1XR1 CHAMP1 TCF12 ZNF766 GATA2 ELK1 ETV6 ATF7 P2RY8 AKAP17A ASMTL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AKAP17A on UCSC Golden Path with GeneCards custom track

Promoters for AKAP17A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243787 508 1800 PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 YY1 ETS1 GLIS2 ELK1

Genomic Location for AKAP17A Gene

Chromosome:
X
Start:
1,591,593 bp from pter
End:
1,602,520 bp from pter
Size:
10,928 bases
Orientation:
Plus strand

Genomic View for AKAP17A Gene

Genes around AKAP17A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAP17A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAP17A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP17A Gene

Proteins for AKAP17A Gene

  • Protein details for AKAP17A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02040-AK17A_HUMAN
    Recommended name:
    A-kinase anchor protein 17A
    Protein Accession:
    Q02040
    Secondary Accessions:
    • Q02832
    • Q2TB98
    • Q5JQ74
    • Q5JQ76
    • Q8N6U9

    Protein attributes for AKAP17A Gene

    Size:
    695 amino acids
    Molecular mass:
    80735 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAA36187.1; Type=Frameshift; Positions=461; Evidence={ECO:0000305};

    Alternative splice isoforms for AKAP17A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP17A Gene

Post-translational modifications for AKAP17A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKAP17A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for AKAP17A

No data available for DME Specific Peptides for AKAP17A Gene

Domains & Families for AKAP17A Gene

Gene Families for AKAP17A Gene

Protein Domains for AKAP17A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKAP17A Gene

Graphical View of Domain Structure for InterPro Entry

Q02040

UniProtKB/Swiss-Prot:

AK17A_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with AKAP17A: view

Function for AKAP17A Gene

Molecular function for AKAP17A Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for AKAP17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 22681889
GO:0005515 protein binding IPI 16982639
GO:0051018 protein kinase A binding IDA,IEA 19840947
genes like me logo Genes that share ontologies with AKAP17A: view

Phenotypes for AKAP17A Gene

genes like me logo Genes that share phenotypes with AKAP17A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AKAP17A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKAP17A Gene

Localization for AKAP17A Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP17A Gene

Nucleus speckle.

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 AKAP17A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKAP17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19840947
GO:0005681 spliceosomal complex IEA --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IEA,IDA 16982639
genes like me logo Genes that share ontologies with AKAP17A: view

Pathways & Interactions for AKAP17A Gene

SuperPathways for AKAP17A Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKAP17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 1438229
GO:0006397 mRNA processing IEA --
GO:0007165 signal transduction NAS 1438229
GO:0008380 RNA splicing IEA --
GO:0042113 B cell activation NAS 1438229
genes like me logo Genes that share ontologies with AKAP17A: view

No data available for Pathways by source and SIGNOR curated interactions for AKAP17A Gene

Drugs & Compounds for AKAP17A Gene

No Compound Related Data Available

Transcripts for AKAP17A Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AKAP17A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP17A Gene

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

Relevant External Links for AKAP17A Gene

GeneLoc Exon Structure for
AKAP17A
ECgene alternative splicing isoforms for
AKAP17A

Expression for AKAP17A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKAP17A Gene

Protein differential expression in normal tissues from HIPED for AKAP17A Gene

This gene is overexpressed in Colon (20.3), Peripheral blood mononuclear cells (7.4), and Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKAP17A Gene



Protein tissue co-expression partners for AKAP17A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKAP17A Gene:

AKAP17A

mRNA Expression by UniProt/SwissProt for AKAP17A Gene:

Q02040-AK17A_HUMAN
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.

Evidence on tissue expression from TISSUES for AKAP17A Gene

  • Blood(4.4)
  • Liver(4.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with AKAP17A: view

Primer Products

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 AKAP17A Gene

Orthologs for AKAP17A Gene

This gene was present in the common ancestor of animals.

Orthologs for AKAP17A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AKAP17A 33 34
  • 90.59 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
AKAP17A 33
  • 86.94 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP17A 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Akap17b 34
  • 22 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKAP17A 33 34
  • 67.08 (n)
lizard
(Anolis carolinensis)
Reptilia AKAP17A 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap17a 33
  • 61.38 (n)
Str.10670 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32104 33
zebrafish
(Danio rerio)
Actinopterygii akap17a 33 34
  • 74.44 (n)
zgc65888 33
fruit fly
(Drosophila melanogaster)
Insecta Xe7 34
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cux-7 34
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5814 34
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8023 33
Species where no ortholog for AKAP17A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for AKAP17A Gene

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

Paralogs for AKAP17A Gene

(1) SIMAP similar genes for AKAP17A Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for AKAP17A Gene

genes like me logo Genes that share paralogs with AKAP17A: view

No data available for Paralogs for AKAP17A Gene

Variants for AKAP17A Gene

Sequence variations from dbSNP and Humsavar for AKAP17A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs139984151 -- 1,589,826(+) AGTTT(C/T)GGAAG upstream-variant-2KB
rs17852504 --
rs181125574 -- 1,590,255(+) CCTCA(G/T)CCTCC upstream-variant-2KB
rs181522950 -- 1,589,910(+) TGTTC(C/T)GTCTT upstream-variant-2KB
rs183411166 -- 1,590,326(+) AGAGA(C/T)GGGGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AKAP17A Gene

Variant ID Type Subtype PubMed ID
esv2314773 CNV deletion 18987734
esv2657890 CNV deletion 23128226
esv2739739 CNV deletion 23290073
esv2739741 CNV deletion 23290073
esv2739742 CNV deletion 23290073
esv29996 CNV loss 17803354
nsv1078146 CNV duplication 25765185
nsv1125145 CNV duplication 24896259
nsv510811 CNV deletion 20534489

Variation tolerance for AKAP17A Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKAP17A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAP17A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP17A Gene

Disorders for AKAP17A Gene

MalaCards: The human disease database

(2) MalaCards diseases for AKAP17A Gene - From: DISEASES

Disorder Aliases PubMed IDs
null-cell leukemia
  • null cell acute lymphoblastic leukemia
chronic tic disorder
  • chronic motor or vocal tic disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AKAP17A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKAP17A
genes like me logo Genes that share disorders with AKAP17A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKAP17A Gene

Publications for AKAP17A Gene

  1. Splicing factor arginine/serine-rich 17A (SFRS17A) is an A-kinase anchoring protein that targets protein kinase A to splicing factor compartments. (PMID: 19840947) Jarnaess E … Taskén K (The Journal of biological chemistry 2009) 2 3 4 60
  2. Cloning and sequencing of a trophoblast-endothelial-activated lymphocyte surface protein: cDNA sequence and genomic structure. (PMID: 1438229) Voland JR … Dutton RW (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 60
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  4. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. (PMID: 16982639) Mangs AH … Morris BJ (Nucleic acids research 2006) 3 4 60
  5. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4 60

Products for AKAP17A Gene

Sources for AKAP17A Gene

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