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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 4-Jan-2025

    Summary

    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; AllianceGenome:HGNC:1986
    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
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    Genomic context

    See CITED1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (72301646..72307157, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (70734542..70740053, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71521496..71527007, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29756 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 Neighboring gene ERCC excision repair 6 like, spindle assembly checkpoint helicase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29758 Neighboring gene Sharpr-MPRA regulatory region 2135 Neighboring gene uncharacterized LOC105373250 Neighboring gene NANOG hESC enhancer GRCh37_chrX:71528736-71529237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:71532082-71532582 Neighboring gene ribosomal protein S4 X-linked Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29761 Neighboring gene histone deacetylase 8 Neighboring gene RNA, U2 small nuclear 68, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:71773892-71775091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29762 Neighboring gene phosphorylase kinase regulatory subunit alpha 1 Neighboring gene MATR3 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables LBD domain binding PubMed 
    enables chromatin binding  
    enables co-SMAD binding PubMed 
    enables protein binding PubMed 
    enables protein homodimerization activity PubMed 
    enables transcription coactivator activity  
    enables transcription coactivator activity PubMed 
    Items 1 - 25 of 42
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction PubMed 
    involved_in apoptotic process  
    involved_in brain development  
    involved_in branching involved in ureteric bud morphogenesis  
    involved_in labyrinthine layer development  
    involved_in melanin biosynthetic process  
    involved_in melanocyte differentiation  
    involved_in melanocyte differentiation PubMed 
    involved_in mesenchymal to epithelial transition PubMed 
    involved_in metanephros development PubMed 
    involved_in negative regulation of DNA-templated transcription PubMed 
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of Wnt signaling pathway PubMed 
    involved_in negative regulation of neuron apoptotic process PubMed 
    involved_in negative regulation of osteoblast differentiation  
    involved_in nucleocytoplasmic transport PubMed 
    involved_in pigmentation PubMed 
    involved_in placenta development  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of gene expression  
    involved_in positive regulation of mesenchymal stem cell proliferation PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway PubMed 
    involved_in regulation of apoptotic process PubMed 
    involved_in regulation of transcription by RNA polymerase II PubMed 
    involved_in response to cAMP  
    involved_in response to cytokine  
    involved_in response to estrogen PubMed 
    involved_in response to estrogen PubMed 
    involved_in response to insulin  
    involved_in response to interleukin-1  
    involved_in response to interleukin-11  
    involved_in response to interleukin-2  
    involved_in response to interleukin-4  
    involved_in response to interleukin-6  
    involved_in response to interleukin-9  
    involved_in response to lipopolysaccharide  
    involved_in response to parathyroid hormone  
    involved_in response to transforming growth factor beta PubMed 
    involved_in response to type II interferon  
    involved_in transforming growth factor beta receptor signaling pathway PubMed 
    involved_in vasculogenesis  
    Items 1 - 25 of 42
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

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    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
      6274..10542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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_001144886.2NP_001138358.1  cbp/p300-interacting transactivator 1 isoform 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
      B5BU50, B5BUI2, Q99966
      Related
      ENSP00000362721.3, ENST00000373619.7
      Conserved Domains (1) summary
      pfam04487
      Location:91189
      CITED; CITED
    3. NM_001144887.2NP_001138359.1  cbp/p300-interacting transactivator 1 isoform 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
      B5BU50, B5BUI2, Q99966
      Related
      ENSP00000499148.1, ENST00000651998.1
      Conserved Domains (1) summary
      pfam04487
      Location:91189
      CITED; CITED
    4. NM_004143.4NP_004134.2  cbp/p300-interacting transactivator 1 isoform 1

      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
      B5BU50, B5BUI2, Q99966
      Related
      ENSP00000246139.5, ENST00000246139.9
      Conserved Domains (1) summary
      pfam04487
      Location:91189
      CITED; CITED

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      72301646..72307157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      70734542..70740053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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