CITED1 - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Gene

Homo sapiens

Also known as MSG1

Gene ID: 4435 | Gene type: protein coding

About CITED1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:72,301,646-72,307,157 (from NCBI)

This gene has 11 transcripts (splice variants), 163 orthologues and 2 paralogues. Restricted expression toward testis (RPKM 42.2).

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]

CITED1 Products(4)

mRNA	Protein	Name
NM_001144885.2	NP_001138357.1	cbp/p300-interacting transactivator 1 isoform 2
NM_001144886.2	NP_001138358.1	cbp/p300-interacting transactivator 1 isoform 1
NM_001144887.2	NP_001138359.1	cbp/p300-interacting transactivator 1 isoform 1
NM_004143.4	NP_004134.2	cbp/p300-interacting transactivator 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables LBD domain binding	IDA IDA: Inferred from direct assay	11581164	GOA
enables co-SMAD binding	IPI IPI: Inferred from physical interaction	9707553	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9707553	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	21172805	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	9707553	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in SMAD protein signal transduction	IDA IDA: Inferred from direct assay	9707553	GOA
involved in melanocyte differentiation	IEP IEP: Inferred from expression pattern	8901575	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11581164	GOA
involved in negative regulation of neuron apoptotic process	IDA IDA: Inferred from direct assay	21172805	GOA
involved in nucleocytoplasmic transport	IDA IDA: Inferred from direct assay	16864582	GOA
involved in pigmentation	IEP IEP: Inferred from expression pattern	8901575	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9434189	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21172805	GOA
involved in regulation of apoptotic process	IDA IDA: Inferred from direct assay	21172805	GOA
involved in response to estrogen	IDA IDA: Inferred from direct assay	11581164	GOA
involved in response to transforming growth factor beta	IDA IDA: Inferred from direct assay	9707553	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	9707553	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16864582	GOA
located in cytosol	IDA IDA: Inferred from direct assay	16864582	GOA
located in nucleus	IDA IDA: Inferred from direct assay	8901575	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CITED1 Protein Structure

CITED

0
100
193 a.a.

Protein Preferred Names

Protein Names

cbp/p300-interacting transactivator 1

melanocyte-specific gene 1

Related Diseases

Diseases

Alias

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Renal Hypoplasia

Thyroid Gland Follicular Carcinoma

Follicular Thyroid Carcinoma	Follicular Adenocarcinoma
Follicular Adenocarcinoma, Well Differentiated	Follicular Carcinoma
Thyroid Adenocarcinoma	Adenocarcinoma, Follicular

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome	WTS
Mrxs6	X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
Mrxswt	Wilson-Turner X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic 6	Mental Retardation, X-Linked, With Gynecomastia And Obesity
Intellectual Disability, X-Linked, Syndromic 6	Intellectual Disability, X-Linked, With Gynecomastia And Obesity
Wilson Turner Intellectual Disability Syndrome	X-Linked Intellectual Disability - Gynecomastia - Obesity

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02728	CITED1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CITED1	RGD	RGD:620781
Canis familiaris	CITED1	VGNC	VGNC:39283
Mus musculus	CITED1	MGD	MGI:108023
Felis catus	CITED1	VGNC	VGNC:60910
Bos taurus	CITED1	VGNC	VGNC:27376
Macaca mulatta	CITED1	VGNC	VGNC:71227

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