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APITD1-CORT Gene

protein-coding   GIFtS: 25
GCID: GC01P010491

APITD1-CORT Readthrough

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(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
APITD1-CORT Readthrough1 2
APITD1-CORT Protein2

External Ids:    HGNC: 388431   Entrez Gene: 1005267392   Ensembl: ENSG000002515037   UniProtKB: R4GMN74   

Export aliases for APITD1-CORT gene to outside databases

Previous GC identifer: GC01U903128


(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 APITD1-CORT Gene:
This locus represents naturally occurring read-through transcription between the neighboring APITD1
(apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple
transcript variants, two of which encode fusion proteins that share sequence identity with the products of each
individual gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for APITD1-CORT Gene:
APITD1-CORT (APITD1-CORT readthrough) is a protein-coding gene. An important paralog of this gene is APITD1.




(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 APITD1-CORT
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APITD1-CORT


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

Entrez Gene cytogenetic band: 1p   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

APITD1-CORT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APITD1-CORT gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P010491:  view genomic region     (about GC identifiers)

Start:
10,490,159 bp from pter      End:
10,512,210 bp from pter
Size:
22,052 bases      Orientation:
plus strand

(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, and/or antibodies-online,
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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UniProtKB/TrEMBL: R4GMN7 (See protein sequence)
Recommended Name: Protein APITD1-CORT  
Size: 77 amino acids; 8784 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

REFSEQ proteins (4 alternative transcripts): 
NP_001230697.1  NP_001257446.1  NP_940946.1  NP_950171.2  

ENSEMBL proteins: 
 ENSP00000383692   ENSP00000433615   ENSP00000473279  

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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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1 InterPro protein domain:
 IPR009072 Histone-fold

Graphical View of Domain Structure for InterPro Entry R4GMN7

ProtoNet protein and cluster: R4GMN7


Find genes that share domains with APITD1-CORT           About GenesLikeMe


(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.)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005179hormone activity ----
GO:0046982protein heterodimerization activity ----
     
Find genes that share ontologies with APITD1-CORT           About GenesLikeMe


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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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Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----

Find genes that share ontologies with APITD1-CORT           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 APITD1-CORT
Interactions:

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(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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(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 APITD1-CORT gene (4 alternative transcripts): 
NM_001243768.1  NM_001270517.1  NM_198544.3  NM_199006.2  

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000400900(uc001arf.3 uc021ogf.1 uc021ogg.1) ENST00000470413
ENST00000465026 ENST00000602446
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GeneLoc Exon Structure


(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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APITD1-CORT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
APITD1-CORT Expression
About this image

APITD1-CORT Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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 chordates.

Orthologs for APITD1-CORT gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Apitd11 apoptosis-inducing, TAF9-like domain 1 81.2(n)
77.78(a)
  69928  NM_027263.2  NP_081539.1 
chicken
(Gallus gallus)
Aves APITD11 apoptosis-inducing, TAF9-like domain 1 66.67(n)
66.67(a)
  771417  NM_001204932.1  NP_001191861.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia apitd11 apoptosis-inducing, TAF9-like domain 1 66.38(n)
69.23(a)
  100038297  NM_001171614.2  NP_001165085.1 
zebrafish
(Danio rerio)
Actinopterygii apitd11 apoptosis-inducing, TAF9-like domain 1 63.31(n)
58.82(a)
  569270  NM_001128749.1  NP_001122221.1 


ENSEMBL Gene Tree for APITD1-CORT (if available)
TreeFam Gene Tree for APITD1-CORT (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for APITD1-CORT gene
APITD11 2  
1 SIMAP similar gene for APITD1-CORT using alignment to 1 protein entry:     R4GMN7_HUMAN:
APITD1

Find genes that share paralogs with APITD1-CORT           About GenesLikeMe



(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 APITD1-CORT (see all 74)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs121265561,2
C,F--10503489(+) gacagG/Agtctt 5 -- int12Minor allele frequency- A:0.50NA 4
rs1926329961,2
--10503536(+) TTGGCG/TCACTG 5 -- int10--------
rs108644561,2
C,A--10503641(+) TTTGTA/GTTTTT 5 -- int12Minor allele frequency- G:0.25NA 4
rs1473722621,2
--10503648(+) TTTTAA/GTAGAG 5 -- int10--------
rs1848881231,2
--10503851(+) CGGCTC/GGCTGT 5 -- int10--------
rs1890738151,2
--10503866(+) TCTGCC/TTCCCA 5 -- int10--------
rs1919816731,2
C--10504163(+) TGCTGG/TGGTGC 5 -- int10--------
rs617760091,2
F--10504337(+) TTGAAC/TATCCT 5 -- int11Minor allele frequency- T:0.50NA 2
rs1848314351,2
--10504367(+) GCCTCA/GGCCTC 5 -- int10--------
rs1498762281,2
--10504376(+) TCCCAA/GAGTGT 5 -- int10--------

HapMap Linkage Disequilibrium report for APITD1-CORT (10490159 - 10512210 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for APITD1-CORT:    About this table    
Variant IDTypeSubtypePubMed ID
essv3548CNV CNV17122850
dgv17e1CNV Complex17122850

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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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  --

(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 APITD1-CORT gene integrated from 10 sources:
(articles sorted by number of sources associating them with APITD1-CORT)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
  3. A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours. (PubMed id 15328517)1 Krona C....Martinsson T. (Br. J. Cancer 2004)
  4. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 100526739 HGNC: 38843 Ensembl:ENSG00000251503 euGenes: HUgn100526739 ECgene: APITD1-CORT
H-InvDB: APITD1-CORT

(According to HUGE)
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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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  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for APITD1-CORT gene:
Search GeneIP for patents involving APITD1-CORT

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, eBioscience, antibodies-online, 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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