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

Also Known as MSG1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4435

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
Molecular Function GO Annotation Evidence Verweise 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 Verweise 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 Verweise 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

CITED: CITED (1 - 191)

  • 0
  • 100
  • 193 a.a.
Protein Preferred Names Protein Names

cbp/p300-interacting transactivator 1

  • melanocyte-specific gene 1

CITED1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
CITED1 Q99966 ESR1 Homo sapiens P03372 11581164
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others CITED1 NCBI