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CITED1 Gene

protein-coding   GIFtS: 57
GCID: GC0XM071521

Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal...


(Previous symbol: MSG1)
  See 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
Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal
Domain, 11 2
MSG11 2 3 5
Melanocyte-Specific Protein 12 3
Cbp/P300-Interacting Transactivator 12
Melanocyte-Specific Gene 12

External Ids:    HGNC: 19861   Entrez Gene: 44352   Ensembl: ENSG000001259317   OMIM: 3001495   UniProtKB: Q999663   

Export aliases for CITED1 gene to outside databases

Previous GC identifers: GC0XM067248 GC0XM068756 GC0XM069754 GC0XM070388 GC0XM071304 GC0XM071438 GC0XM065277


(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 CITED1 Gene:
This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich
C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may
function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively
spliced transcript variants have been described. (provided by RefSeq, Jan 2009)

GeneCards Summary for CITED1 Gene:
CITED1 (Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1) is a protein-coding gene. Diseases associated with CITED1 include nephroblastoma, and papillary thyroid carcinoma. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is CITED4.

UniProtKB/Swiss-Prot: CITE1_HUMAN, Q99966
Function: Transcriptional coactivator of the p300/CBP-mediated trancription complex. Enhances SMAD-mediated
transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the
p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by
estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase
EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated
transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection
against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts
as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling.
May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha
promoter region in a estrogen-dependent manner

Gene Wiki entry for CITED1 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:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CITED1 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CITED1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CITED1


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

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

CITED1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CITED1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM071521:  view genomic region     (about GC identifiers)

Start:
71,521,488 bp from pter      End:
71,527,037 bp from pter
Size:
5,550 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: CITE1_HUMAN, Q99966 (See protein sequence)
Recommended Name: Cbp/p300-interacting transactivator 1  
Size: 193 amino acids; 19896 Da
Subunit: Interacts (via C-terminus) with CREBBP. Interacts with EGR2 (By similarity). Homodimer. Binds to RBM14.
Interacts (via N-terminus) with HSPA8; the interaction suppresses the association of CITED1 with p300/CBP and
SMAD-mediated transcription transactivation. Interacts (via C-terminus) with TOX3 (via HGM box); the interaction
increases estrogen-response element (ERE)-dependent transcription and protection against cell death. Interacts
with ESR1; the interaction occurs in a estrogen-dependent manner (By similarity). Interacts (unphosphorylated
form preferentially and via C-terminus) with EP300
Sequence caution: Sequence=N30508; Type=Frameshift; Positions=67;
Secondary accessions: B5BU50 B5BUI2
Alternative splicing: 2 isoforms:  Q99966-1   Q99966-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CITED1: NX_Q99966

Explore proteomics data for CITED1 at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation changes in a cell cycle-dependent manner and reduces its transcriptional
    coactivator activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CITED1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001138357.1  NP_001138358.1  NP_001138359.1  NP_004134.2  

    ENSEMBL proteins: 
     ENSP00000401764   ENSP00000362721   ENSP00000407496   ENSP00000246139   ENSP00000414781  
     ENSP00000391407   ENSP00000405765   ENSP00000412769   ENSP00000388548   ENSP00000403274  

    CITED1 Human Recombinant Protein Products:

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    Novus Biologicals CITED1 Proteins
    Novus Biologicals CITED1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CITED1
    Cloud-Clone Corp. Proteins for CITED1

    CITED1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for CITED1
    Cloud-Clone Corp. Antibodies for CITED1
    ThermoFisher Antibodies for CITED1
    LSBio Antibodies in human, mouse, rat for CITED1

    CITED1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CITED1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CITED1
    Cloud-Clone Corp. CLIAs for CITED1


    (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:
     IPR007576 CITED

    Graphical View of Domain Structure for InterPro Entry Q99966

    ProtoNet protein and cluster: Q99966

    1 Blocks protein domain: IPB007576 CITED

    UniProtKB/Swiss-Prot: CITE1_HUMAN, Q99966
    Similarity: Belongs to the CITED family


    CITED1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CITE1_HUMAN, Q99966
    Function: Transcriptional coactivator of the p300/CBP-mediated trancription complex. Enhances SMAD-mediated
    transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the
    p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by
    estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase
    EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated
    transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection
    against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts
    as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling.
    May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha
    promoter region in a estrogen-dependent manner
    Induction: Up-regulated by GPR39 in neuronal cells

         Genatlas biochemistry entry for CITED1:
    CBP/300 interactive transactivator with ED rich tail 1,predominantly expressed in normal melanocytes and pigmented
    melanoma cells

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS8901575
    GO:0003713transcription coactivator activity IDA11581164
    GO:0005515protein binding IPI10327051
    GO:0008022protein C-terminus binding IPI15843474
         
    CITED1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cited1):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size/body 
     integument  mortality/aging  renal/urinary system 

    CITED1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cited1tm1Dunw for CITED1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CITED1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CITED1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CITED1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CITED1

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    Predesigned siRNA for gene silencing in human, mouse, rat CITED1

    Gene Editing
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    OriGene clones in human, mouse for CITED1 (see all 19)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CITED1 (NM_004143)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CITED1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CITED1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CITED1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED1


    (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
    CITE1_HUMAN, Q99966: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm by a nuclear export
    signal and (NES) in a CRM1-dependent manner
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16864582
    GO:0005737cytoplasm IDA16864582
    GO:0005829cytosol IDA16864582

    CITED1 for ontologies           About GeneDecksing


    (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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    SuperPaths for CITED1 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    2Regulation of nuclear SMAD2/3 signaling
    Regulation of nuclear SMAD2/3 signaling


    2 BioSystems Pathways for CITED1
        TGF-beta Receptor Signaling Pathway
    Regulation of nuclear SMAD2/3 signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CITED1
    Interactions:

        GeneGlobe Interaction Network for CITED1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for CITED1 (Q999661, 2, 3 ENSP000003885484) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNP054121, 2, 3, ENSP000003602664EBI-2624951,EBI-852823 MINT-6628029 MINT-6628056 I2D: score=1 STRING: ENSP00000360266
    ATF2P153361, 2, 3, ENSP000002641104EBI-2624951,EBI-1170906 MINT-6628046 MINT-6628051 I2D: score=1 STRING: ENSP00000264110
    ESR1P033721, 3, ENSP000002062494EBI-2624951,EBI-78473 I2D: score=2 STRING: ENSP00000206249
    CYP27B1O155283, ENSP000002286064I2D: score=1 STRING: ENSP00000228606
    TFAP2CQ927543, ENSP000002010314I2D: score=1 STRING: ENSP00000201031
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000578embryonic axis specification IEA--
    GO:0001570vasculogenesis IEA--
    GO:0001656metanephros development TAS17336183
    GO:0001658branching involved in ureteric bud morphogenesis ISS--
    GO:0001890placenta development ISS--

    CITED1 for ontologies           About GeneDecksing



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for CITED1 (CITE1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CITED1 gene (4 alternative transcripts): 
    NM_001144885.1  NM_001144886.1  NM_001144887.1  NM_004143.3  

    Unigene Cluster for CITED1:

    Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
    Hs.40403  [show with all ESTs]
    Unigene Representative Sequence: NM_004143
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453707 ENST00000373619(uc004eat.3) ENST00000429794 ENST00000246139(uc004eas.3)
    ENST00000417400 ENST00000427412 ENST00000450875 ENST00000454225 ENST00000431381(uc011mqc.2)
    ENST00000445983(uc011mqd.2)
    miRNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): CITED1 (NM_004143)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CITED1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CITED1
    Primer
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    OriGene qPCR primer pairs and template standards for CITED1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CITED1
      QuantiTect SYBR Green Assays in human, mouse, rat CITED1
      QuantiFast Probe-based Assays in human, mouse, rat CITED1

    Additional mRNA sequence: 

    AB451286.1 AB451418.1 BC004240.1 U65092.1 

    9 DOTS entries:

    DT.100777007  DT.121296633  DT.92463104  DT.453275  DT.86791802  DT.100777006  DT.40112041  DT.95170092 
    DT.91932689 

    Selected AceView cDNA sequences (see all 106):

    CR597324 AA317379 BM904827 BM929522 BM708181 BF057265 BM707708 BP870754 
    BC004240 NM_004143 N71708 AW769745 N31118 AI569676 BP871191 BF115260 
    AA634372 AL544337 AA932404 AA622510 AI041143 CD672232 BM664781 BM703303 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CITED1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h ^ 8
    SP1:                    -     -     -     -     -     -                                                                           
    SP2:                                      -                 -                                                                     
    SP3:                                      -     -           -                                                                     
    SP4:        -     -     -     -     -     -     -     -     -                                                                     
    SP5:                    -     -     -     -     -     -     -                                                                     


    ECgene alternative splicing isoforms for CITED1

    (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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    CITED1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTAATAAT
    CITED1 Expression
    About this image


    CITED1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiomyocytes Outer Curvature
             Endocardium
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             XY Germ Cells Testis Cord
             Seminiferous Tubules
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Kidney (Urinary System)
             Cap Mesenchyme Cells Cap Mesenchyme
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
    CITED1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CITED1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.40403

    UniProtKB/Swiss-Prot: CITE1_HUMAN, Q99966
    Tissue specificity: Expressed only in melanocytes and testis

        Custom PCR Arrays for CITED1
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    QuantiFast Probe-based Assays in human, mouse, rat CITED1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED1

    (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 CITED1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cited11 , 5 Cbp/p300-interacting transactivator with Glu/Asp-rich more1, 5 78.39(n)1
    71.69(a)1
      X (45.25 cM)5
    127051  NM_001276474.11  NP_001263403.11 
     1022473815 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cited11 Cbp/p300-interacting transactivator, with Glu/Asp-rich more 57.46(n)
    50.75(a)
      101734146  XM_004916755.1  XP_004916812.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cited11 Cbp/p300-interacting transactivator, with Glu/Asp-rich more 62.47(n)
    53.85(a)
      793303  NM_001114891.1  NP_001108363.1 


    ENSEMBL Gene Tree for CITED1 (if available)
    TreeFam Gene Tree for CITED1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CITED1 gene
    CITED42  CITED22  

    CITED1 for paralogs           About GeneDecksing



    (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 CITED1 (see all 101)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1922949201,2
    --71526742(+) GCCACA/GTGGCC 4 -- ds50010--------
    rs1430881071,2
    --71526782(+) TGTAGC/TAAGGA 4 -- ds50010--------
    rs1845232631,2
    --71526920(+) TGGCAA/GCAGGA 4 -- ds50010--------
    rs1481895221,2
    --71526940(+) ACAGCC/TCCCTT 4 -- ds50010--------
    rs1896215891,2
    --71527088(+) TGGCCC/TGTCTC 4 -- ut310--------
    rs2010272311,2
    C--71527142(+) TTATTC/TCTCCA 4 -- ut310--------
    rs3679249821,2
    C--71527184(+) TGGAAA/GGTCCG 8 L F mis10--------
    rs1396483681,2
    C,F--71527192(+) CCGCAG/ATGAAG 8 /T /I mis11Minor allele frequency- A:0.00NA 4550
    rs1411669501,2
    C,F--71527227(+) AGCTCC/TGGAAG 8 P syn11Minor allele frequency- T:0.00NA 4550
    rs1457313311,2
    F--71527263(+) TCCACC/TACCAG 8 V syn11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for CITED1 (71521488 - 71527037 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CITED1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv22874CNV Loss19812545

    Locus Specific Mutation Databases (LSDB): CITED1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CITED1
    DNA2.0 Custom Variant and Variant Library Synthesis for CITED1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300149    OMIM disorders: --

    10 diseases for CITED1:    
    About MalaCards
    nephroblastoma    papillary thyroid carcinoma    microphthalmia    thyroid cancer
    wilms tumor    thyroiditis    melanoma    cerebritis
    neuronitis    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for CITED1:
    Thyroid cancer     Nephroblastoma

    CITED1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CITED1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nevi 59.3 9 11310794 (4), 15990678 (3), 9683535 (1)
    melanoma 50.9 29 11310794 (6), 15990678 (5), 9683535 (4), 10644012 (3) (see all 6)
    tumors 0 5 15272279 (2), 10644012 (2), 11310794 (1)


    Export disorders for CITED1 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 CITED1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with CITED1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation. (PubMed id 8901575)1, 2, 3, 9 Shioda T.... Isselbacher K.J. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. The MSG1 non-DNA-binding transactivator binds to the p300/CBP coactivators, enhancing their functional link to the Smad transcription factors. (PubMed id 10722728)1, 2, 9 Yahata T.... Shioda T. (J. Biol. Chem. 2000)
    3. MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis. (PubMed id 9721210)1, 3, 9 Fenner M.H....Shioda T. (Genomics 1998)
    4. TOX3 is a neuronal survival factor that induces transcription depending on the presence of CITED1 or phosphorylated CREB in the transcriptionally active complex. (PubMed id 21172805)1, 2 Dittmer S.... Methner A. (J. Cell Sci. 2011)
    5. The transcriptional activity of CITED1 is regulated by phosphorylation in a cell cycle-dependent manner. (PubMed id 16864582)1, 2 Shi G....de Caestecker M.P. (J. Biol. Chem. 2006)
    6. 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)
    7. Selective coactivation of estrogen-dependent transcription by CITED1 CBP/p300-binding protein. (PubMed id 11581164)1, 2 Yahata T.... Shioda T. (Genes Dev. 2001)
    8. Transcriptional activating activity of Smad4: roles of SMAD hetero- oligomerization and enhancement by an associating transactivator. (PubMed id 9707553)1, 2 Shioda T.... Isselbacher K.J. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    9. Aberrant expression of MSG1 transcriptional activator in human malignant melanoma in vivo. (PubMed id 11310794)1, 9 Ahmed N.U....Ueda M. (Pigment Cell Res. 2001)
    10. Regulation of expression of MSG1 melanocyte-specific nuclear protein in human melanocytes and melanoma cells. (PubMed id 9683535)1, 9 Li H....Shioda T. (Exp. Cell Res. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4435 HGNC: 1986 AceView: CITED1 Ensembl:ENSG00000125931 euGenes: HUgn4435
    ECgene: CITED1 H-InvDB: CITED1

    (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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    NameDescription
    PharmGKB entry for CITED1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CITED1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CITED1 gene:
    Search GeneIP for patents involving CITED1

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



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