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CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [ Homo sapiens (human) ]

Gene ID: 4435, updated on 8-Jul-2018
Official Symbol
CITED1provided by HGNC
Official Full Name
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1provided by HGNC
Primary source
HGNC:HGNC:1986
See related
Ensembl:ENSG00000125931 MIM:300149; Vega:OTTHUMG00000021812
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MSG1
Summary
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]
Expression
Restricted expression toward testis (RPKM 42.2) See more
Orthologs
See CITED1 in Genome Data Viewer
Location:
Xq13.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (72301638..72307187, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71521488..71527037, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 Neighboring gene ERCC excision repair 6 like, spindle assembly checkpoint helicase Neighboring gene uncharacterized LOC105373250 Neighboring gene ribosomal protein S4 X-linked Neighboring gene histone deacetylase 8 Neighboring gene RNA, U2 small nuclear 68, pseudogene Neighboring gene phosphorylase kinase regulatory subunit alpha 1 Neighboring gene matrin 3 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
LBD domain binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
co-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic axis specification IEA
Inferred from Electronic Annotation
more info
 
labyrinthine layer development IEA
Inferred from Electronic Annotation
more info
 
melanin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesenchymal to epithelial transition TAS
Traceable Author Statement
more info
PubMed 
metanephros development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of Wnt signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleocytoplasmic transport IDA
Inferred from Direct Assay
more info
PubMed 
pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
response to cytokine ISS
Inferred from Sequence or Structural Similarity
more info
 
response to estrogen IDA
Inferred from Direct Assay
more info
PubMed 
response to estrogen TAS
Traceable Author Statement
more info
PubMed 
response to insulin ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interferon-gamma ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-1 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-11 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-2 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-4 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-6 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to interleukin-9 ISS
Inferred from Sequence or Structural Similarity
more info
 
response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
 
response to parathyroid hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
response to transforming growth factor beta IDA
Inferred from Direct Assay
more info
PubMed 
spongiotrophoblast layer development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cbp/p300-interacting transactivator 1
Names
melanocyte-specific gene 1
melanocyte-specific protein 1
NP_001138357.1
NP_001138358.1
NP_001138359.1
NP_004134.2
XP_011529260.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015847.1 RefSeqGene

    Range
    5201..10550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144885.1NP_001138357.1  cbp/p300-interacting transactivator 1 isoform 2

    See identical proteins and their annotated locations for NP_001138357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region due to the presence of two alternate exons. These differences cause translation initiation at an upstream AUG and result in an isoform (2) with a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AI217516, AL135749, BC004240, N27803
    Consensus CDS
    CCDS48136.1
    UniProtKB/Swiss-Prot
    Q99966
    Related
    ENSP00000388548.1, ENST00000431381.5
    Conserved Domains (1) summary
    pfam04487
    Location:117215
    CITED; CITED
  2. NM_001144886.1NP_001138358.1  cbp/p300-interacting transactivator 1 isoform 1

    See identical proteins and their annotated locations for NP_001138358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same protein.
    Source sequence(s)
    AI217516, AL135749, U65092
    Consensus CDS
    CCDS14419.1
    UniProtKB/Swiss-Prot
    Q99966
    Related
    ENSP00000362721.3, OTTHUMP00000023529, ENST00000373619.7, OTTHUMT00000057180
    Conserved Domains (1) summary
    pfam04487
    Location:91189
    CITED; CITED
  3. NM_001144887.1NP_001138359.1  cbp/p300-interacting transactivator 1 isoform 1

    See identical proteins and their annotated locations for NP_001138359.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same protein.
    Source sequence(s)
    AI217516, AL135749, BC004240, BP247232
    Consensus CDS
    CCDS14419.1
    UniProtKB/Swiss-Prot
    Q99966
    Related
    ENSP00000403274.1, ENST00000445983.5
    Conserved Domains (1) summary
    pfam04487
    Location:91189
    CITED; CITED
  4. NM_004143.3NP_004134.2  cbp/p300-interacting transactivator 1 isoform 1

    See identical proteins and their annotated locations for NP_004134.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AI217516, AL135749, BC004240
    Consensus CDS
    CCDS14419.1
    UniProtKB/Swiss-Prot
    Q99966
    Related
    ENSP00000246139.5, OTTHUMP00000023530, ENST00000246139.9, OTTHUMT00000057181
    Conserved Domains (1) summary
    pfam04487
    Location:91189
    CITED; CITED

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    72301638..72307187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530958.1XP_011529260.1  cbp/p300-interacting transactivator 1 isoform X1

    See identical proteins and their annotated locations for XP_011529260.1

    UniProtKB/Swiss-Prot
    Q99966
    Conserved Domains (1) summary
    pfam04487
    Location:117215
    CITED; CITED
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