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

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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CITED1 expression in odontogenic cysts.
Title: CITED1 expression in odontogenic cysts.
Roles and signaling pathways of CITED1 in tumors: overview and novel insights.
Title: Roles and signaling pathways of CITED1 in tumors: overview and novel insights.
Effect of silencing CITED1 gene to regulate PI3K/AKT pathway on the biological function of PTC cells and its mechanism.
Title: Effect of silencing CITED1 gene to regulate PI3K/AKT pathway on the biological function of PTC cells and its mechanism.
CITED1 as a marker of favourable outcome in anti-endocrine treated, estrogen-receptor positive, lymph-node negative breast cancer.
Title: CITED1 as a marker of favourable outcome in anti-endocrine treated, estrogen-receptor positive, lymph-node negative breast cancer.
Role of cited-1 and caspase-6 expression in HELLP syndrome.
Title: Role of cited-1 and caspase-6 expression in HELLP syndrome.
Regulation of macrophage IFNgamma-stimulated gene expression by the transcriptional coregulator CITED1.
Title: Regulation of macrophage IFNγ-stimulated gene expression by the transcriptional coregulator CITED1.
Forced nuclear enrichment of CITED1 in a human WT cell line appears to enhance tumorigenicity, whereas ectopic cytosolic expression confers stem-like properties and an embryonic phenotype.
Title: CITED1 confers stemness to Wilms tumor and enhances tumorigenic responses when enriched in the nucleus.
Thus deficiency of Cited1 leads to hyper-activation of Wnt signaling and an exaggerated Wnt phenotype including elevated cell death
Title: Cited1 deficiency suppresses intestinal tumorigenesis.
The CITED1 expression is correlated with lymph node metastasis in patients with colorectal cancer.
Title: Predicting lymph node metastasis in early colorectal cancer using the CITED1 expression.
CITED1 expression remains active across all disease characteristics of Wilms tumor. It is found in the nucleus & cytosol. It is not found in normal kidney.
Title: SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC35157 (e-PCR)
- UniSTS:7742

RH35925 (e-PCR)
- UniSTS:36969

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables LBD domain binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables co-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in labyrinthine layer development	IEA Inferred from Electronic Annotation more info
involved_in melanin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in mesenchymal to epithelial transition	TAS Traceable Author Statement more info	PubMed
involved_in metanephros development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleocytoplasmic transport	IDA Inferred from Direct Assay more info	PubMed
involved_in pigmentation	IEP Inferred from Expression Pattern more info	PubMed
involved_in placenta development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mesenchymal stem cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to cytokine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estrogen	IDA Inferred from Direct Assay more info	PubMed
involved_in response to estrogen	TAS Traceable Author Statement more info	PubMed
involved_in response to insulin	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-1	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-11	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-2	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-4	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-6	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-9	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to parathyroid hormone	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to transforming growth factor beta	IDA Inferred from Direct Assay more info	PubMed
involved_in response to type II interferon	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cbp/p300-interacting transactivator 1

Names: melanocyte-specific gene 1; melanocyte-specific protein 1

NP_001138357.1

EC 3.5.1.98

NP_001138358.1

EC 3.5.1.98

NP_001138359.1

EC 3.5.1.98

NP_004134.2

EC 3.5.1.98

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

NG_015847.1 RefSeqGene

Range

6274..10542

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144885.2 → NP_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:117 → 215

CITED; CITED
NM_001144886.2 → NP_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

B5BU50, B5BUI2, Q99966

Related

ENSP00000362721.3, ENST00000373619.7

Conserved Domains (1) summary

pfam04487
Location:91 → 189

CITED; CITED
NM_001144887.2 → NP_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

B5BU50, B5BUI2, Q99966

Related

ENSP00000499148.1, ENST00000651998.1

Conserved Domains (1) summary

pfam04487
Location:91 → 189

CITED; CITED
NM_004143.4 → NP_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

B5BU50, B5BUI2, Q99966

Related

ENSP00000246139.5, ENST00000246139.9

Conserved Domains (1) summary

pfam04487
Location:91 → 189

CITED; CITED