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Aliases for CITED1 Gene

Aliases for CITED1 Gene

  • Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 1 2 3 5
  • Melanocyte-Specific Protein 1 3 4
  • MSG1 3 4
  • Cbp/P300-Interacting Transactivator, With Glu/Asp Rich Carboxy-Terminal Domain, 1 2
  • Cbp/P300-Interacting Transactivator 1 3
  • Melanocyte-Specific Gene 1 3

External Ids for CITED1 Gene

Previous HGNC Symbols for CITED1 Gene

  • MSG1

Previous GeneCards Identifiers for CITED1 Gene

  • GC0XM067248
  • GC0XM068756
  • GC0XM069754
  • GC0XM070388
  • GC0XM071304
  • GC0XM071438
  • GC0XM071521
  • GC0XM065277

Summaries for CITED1 Gene

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 Malignant Melanoma, Somatic. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and Gene Expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is CITED2.

UniProtKB/Swiss-Prot for CITED1 Gene

  • Transcriptional coactivator of the p300/CBP-mediated transcription 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CITED1 Gene

Genomics for CITED1 Gene

Regulatory Elements for CITED1 Gene

Enhancers for CITED1 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
GH0XF072381 0.8 Ensembl ENCODE 12.4 -74.9 -74914 0.6 SOX5 CTCF PKNOX1 FEZF1 GATA3 IKZF1 PBX2 FOXJ2 SPI1 CITED1 GC0XM072378 RNU2-68P HDAC8
GH0XF072494 0.2 ENCODE 12.4 -187.9 -187884 0.8 CITED1 HDAC8 GC0XM072378 RNU2-68P
GH0XF072382 0.6 Ensembl 12 -74.3 -74314 0.2 FOXJ2 CITED1 ERCC6L RNU2-68P GC0XM072378 HDAC8
GH0XF072393 1.3 Ensembl ENCODE 11.9 -87.6 -87603 3.4 POLR2A PRDM10 ZNF652 TRIM28 CITED1 GC0XM072378 RNU2-68P HDAC8
GH0XF072308 0.9 Ensembl ENCODE 0.8 -1.9 -1904 1.0 RAD21 CEBPB SP1 ZFP69B ZNF610 SMARCA4 ZNF341 GLIS1 CEBPA ZBTB33 PIN4 CITED1 GC0XM072378 RNU2-68P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CITED1 on UCSC Golden Path with GeneCards custom track

Promoters for CITED1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001917687 587 2001 ZNF76 KLF17 FEZF1 ZBTB40 ZNF366 ZNF391 EGR2 ZNF280D SP3 ZBTB2

Genomic Location for CITED1 Gene

Chromosome:
X
Start:
72,301,638 bp from pter
End:
72,307,187 bp from pter
Size:
5,550 bases
Orientation:
Minus strand

Genomic View for CITED1 Gene

Genes around CITED1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CITED1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CITED1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CITED1 Gene

Proteins for CITED1 Gene

  • Protein details for CITED1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99966-CITE1_HUMAN
    Recommended name:
    Cbp/p300-interacting transactivator 1
    Protein Accession:
    Q99966
    Secondary Accessions:
    • B5BU50
    • B5BUI2

    Protein attributes for CITED1 Gene

    Size:
    193 amino acids
    Molecular mass:
    19896 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=N30508; Type=Frameshift; Positions=67; Evidence={ECO:0000305};

    Alternative splice isoforms for CITED1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CITED1 Gene

Post-translational modifications for CITED1 Gene

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

No data available for DME Specific Peptides for CITED1 Gene

Domains & Families for CITED1 Gene

Protein Domains for CITED1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CITED1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99966

UniProtKB/Swiss-Prot:

CITE1_HUMAN :
  • Belongs to the CITED family.
Family:
  • Belongs to the CITED family.
genes like me logo Genes that share domains with CITED1: view

No data available for Gene Families for CITED1 Gene

Function for CITED1 Gene

Molecular function for CITED1 Gene

GENATLAS Biochemistry:
CBP/300 interactive transactivator with ED rich tail 1,predominantly expressed in normal melanocytes and pigmented melanoma cells
UniProtKB/Swiss-Prot Function:
Transcriptional coactivator of the p300/CBP-mediated transcription 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by GPR39 in neuronal cells.

Gene Ontology (GO) - Molecular Function for CITED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IBA --
GO:0003682 chromatin binding ISS --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 8901575
GO:0003713 transcription coactivator activity IDA 9707553
GO:0005515 protein binding IPI 9707553
genes like me logo Genes that share ontologies with CITED1: view
genes like me logo Genes that share phenotypes with CITED1: view

Animal Models for CITED1 Gene

MGI Knock Outs for CITED1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CITED1 Gene

Localization for CITED1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CITED1 Gene

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
Jensen Localization Image for CITED1 Gene COMPARTMENTS Subcellular localization image for CITED1 gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for CITED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 8901575
GO:0005737 cytoplasm IEA,IDA 16864582
GO:0005829 cytosol IDA 16864582
genes like me logo Genes that share ontologies with CITED1: view

Pathways & Interactions for CITED1 Gene

genes like me logo Genes that share pathways with CITED1: view

SIGNOR curated interactions for CITED1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CITED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000578 embryonic axis specification IEA --
GO:0001570 vasculogenesis IEA --
GO:0001656 metanephros development TAS 17336183
GO:0001658 branching involved in ureteric bud morphogenesis ISS --
GO:0001890 placenta development ISS --
genes like me logo Genes that share ontologies with CITED1: view

Transcripts for CITED1 Gene

Unigene Clusters for CITED1 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CITED1 Gene

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: - - - - - - -
SP6: - - - -
SP7: -
SP8: - - - - -

Relevant External Links for CITED1 Gene

GeneLoc Exon Structure for
CITED1
ECgene alternative splicing isoforms for
CITED1

Expression for CITED1 Gene

mRNA expression in normal human tissues for CITED1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CITED1 Gene

This gene is overexpressed in Pituitary (x19.1), Testis (x15.1), and Brain - Hypothalamus (x6.1).

Protein differential expression in normal tissues from HIPED for CITED1 Gene

This gene is overexpressed in Fetal testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CITED1 Gene



Protein tissue co-expression partners for CITED1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CITED1 Gene:

CITED1

SOURCE GeneReport for Unigene cluster for CITED1 Gene:

Hs.40403

mRNA Expression by UniProt/SwissProt for CITED1 Gene:

Q99966-CITE1_HUMAN
Tissue specificity: Expressed only in melanocytes and testis.
genes like me logo Genes that share expression patterns with CITED1: view

Primer Products

Orthologs for CITED1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CITED1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CITED1 34 35
  • 99.39 (n)
cow
(Bos Taurus)
Mammalia CITED1 34 35
  • 87.43 (n)
dog
(Canis familiaris)
Mammalia CITED1 34 35
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Cited1 34
  • 80.21 (n)
mouse
(Mus musculus)
Mammalia Cited1 34 16 35
  • 78.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CITED1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cited1 34
  • 57.46 (n)
zebrafish
(Danio rerio)
Actinopterygii cited1 34 35
  • 62.47 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6626 34
Species where no ortholog for CITED1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CITED1 Gene

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

Paralogs for CITED1 Gene

Paralogs for CITED1 Gene

genes like me logo Genes that share paralogs with CITED1: view

Variants for CITED1 Gene

Sequence variations from dbSNP and Humsavar for CITED1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1047458 -- 72,301,688(-) AAGCC(A/C)CCAAT utr-variant-3-prime
rs111324347 -- 72,301,560(+) AACCC(C/T)GCCAT downstream-variant-500B
rs111695707 -- 72,306,449(+) CAGCC(C/G)GGCGC intron-variant, upstream-variant-2KB
rs111719200 -- 72,307,404(+) AAGCT(G/T)TCGGG intron-variant, upstream-variant-2KB
rs112418013 -- 72,305,289(+) AGTTA(A/T)AATGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CITED1 Gene

Variant ID Type Subtype PubMed ID
esv22874 CNV loss 19812545

Variation tolerance for CITED1 Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CITED1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CITED1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CITED1 Gene

Disorders for CITED1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CITED1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
malignant melanoma, somatic
  • melanoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CITED1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CITED1
genes like me logo Genes that share disorders with CITED1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CITED1 Gene

Publications for CITED1 Gene

  1. msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation. (PMID: 8901575) Shioda T. … Isselbacher K.J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 22 64
  2. The MSG1 non-DNA-binding transactivator binds to the p300/CBP coactivators, enhancing their functional link to the Smad transcription factors. (PMID: 10722728) Yahata T. … Shioda T. (J. Biol. Chem. 2000) 3 4 22 64
  3. MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis. (PMID: 9721210) Fenner M.H. … Shioda T. (Genomics 1998) 2 3 22 64
  4. TOX3 is a neuronal survival factor that induces transcription depending on the presence of CITED1 or phosphorylated CREB in the transcriptionally active complex. (PMID: 21172805) Dittmer S. … Methner A. (J. Cell Sci. 2011) 3 4 64
  5. The transcriptional activity of CITED1 is regulated by phosphorylation in a cell cycle-dependent manner. (PMID: 16864582) Shi G. … de Caestecker M.P. (J. Biol. Chem. 2006) 3 4 64

Products for CITED1 Gene

Sources for CITED1 Gene

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