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

Gene

• Entrez ID: 4435
• Gene name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
• Gene symbol: CITED1
• Synonyms (NCBI Gene): MSG1
• Chromosome: X
• Chromosome location: Xq13.1
• 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 coactiv

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001570	Process	Vasculogenesis	IEA
GO:0001656	Process	Metanephros development	TAS	17336183
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001890	Process	Placenta development	IEA
GO:0001890	Process	Placenta development	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	9707553, 11581164, 16864582, 21172805
GO:0005515	Function	Protein binding	IPI	9707553, 10327051, 10722728, 11581164, 15843474, 16864582, 21172805, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8901575, 9434189, 16864582
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	16864582, 17710162
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	16864582
GO:0005829	Component	Cytosol	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9434189
GO:0006913	Process	Nucleocytoplasmic transport	IDA	16864582
GO:0006915	Process	Apoptotic process	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	9707553
GO:0007420	Process	Brain development	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	TAS	17336183
GO:0030318	Process	Melanocyte differentiation	IBA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IEP	8901575
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	TAS	17336183
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032496	Process	Response to lipopolysaccharide	ISS
GO:0032868	Process	Response to insulin	IEA
GO:0032868	Process	Response to insulin	ISS
GO:0034097	Process	Response to cytokine	IEA
GO:0034097	Process	Response to cytokine	ISS
GO:0034341	Process	Response to type II interferon	IEA
GO:0034341	Process	Response to type II interferon	ISS
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042438	Process	Melanin biosynthetic process	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	21172805
GO:0042981	Process	Regulation of apoptotic process	IDA	21172805
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	IEP	8901575
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	21172805
GO:0043627	Process	Response to estrogen	IDA	11581164
GO:0043627	Process	Response to estrogen	TAS	17938205
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11581164
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9434189, 9707553
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21172805
GO:0050693	Function	LBD domain binding	IDA	11581164
GO:0051591	Process	Response to cAMP	IEA
GO:0051591	Process	Response to cAMP	ISS
GO:0060231	Process	Mesenchymal to epithelial transition	TAS	17336183
GO:0060395	Process	SMAD protein signal transduction	IDA	9707553
GO:0060711	Process	Labyrinthine layer development	IEA
GO:0070410	Function	Co-SMAD binding	IPI	9707553
GO:0070555	Process	Response to interleukin-1	IEA
GO:0070555	Process	Response to interleukin-1	ISS
GO:0070669	Process	Response to interleukin-2	IEA
GO:0070669	Process	Response to interleukin-2	ISS
GO:0070670	Process	Response to interleukin-4	IEA
GO:0070670	Process	Response to interleukin-4	ISS
GO:0070741	Process	Response to interleukin-6	IEA
GO:0070741	Process	Response to interleukin-6	ISS
GO:0071104	Process	Response to interleukin-9	IEA
GO:0071104	Process	Response to interleukin-9	ISS
GO:0071105	Process	Response to interleukin-11	IEA
GO:0071105	Process	Response to interleukin-11	ISS
GO:0071107	Process	Response to parathyroid hormone	IEA
GO:0071107	Process	Response to parathyroid hormone	ISS
GO:0071559	Process	Response to transforming growth factor beta	IDA	9707553
GO:0090183	Process	Regulation of kidney development	IEA
GO:1902462	Process	Positive regulation of mesenchymal stem cell proliferation	TAS	17336183

Other IDs

• MIM: 300149
• HGNC: 1986
• e!Ensembl: ENSG00000125931

Protein

• UniProt ID: Q99966
• Protein name: Cbp/p300-interacting transactivator 1 (Melanocyte-specific protein 1)
• Protein function: Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04487	CITED	13 → 192	CITED	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed only in melanocytes and testis.
• Sequence:

  MPTTSRPALDVKGGTSPAKEDANQEMSSVAYSNLAVKDRKAVAILHYPGVASNGTKASGA
  PTSSSGSPIGSPTTTPPTKPPSFNLHPAPHLLASMHLQKLNSQYQGMAAATPGQPGEAGP
  LQNWDFGAQAGGAESLSPSAGAQSPAIIDSDPVDEEVLMSLVVELGLDRANELPELWLGQ
  NEFDFTADFPSSC

• Sequence length: 193

Pathways

Reactome:

Activation of the TFAP2 (AP-2) family of transcription factors
Estrogen-dependent gene expression

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	23935526		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17486082, 17938205		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23569218	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	24488803		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23746764		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	23308048		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	15272279	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	8901575		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24481423		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23308048		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17486082, 17938205		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29928391		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30450190		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17486082		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	9683535		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10644012, 26526369, 29434952, 8901575		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17611626	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	10644012		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17336183, 17710162, 23935526, 30450190, 31686836		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17336183, 17710162, 22703800, 23308048, 24481423		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	9683535		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21449767, 29928391, 30450190, 31686836		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	26823553	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	19297558		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	19297558		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11752453, 15272279	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29928391		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29928391		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15272279, 16675914, 22288969, 26985959	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	22703800, 30155617, 37114795	Associate	★☆☆☆☆ Found in Text Mining only