• Gene id: 4435

Gene Summary

• Gene Symbol: CITED1   Gene   UCSC   Ensembl
• Aliases: MSG1
• Gene name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
• Alternate names: cbp/p300-interacting transactivator 1, melanocyte-specific gene 1, melanocyte-specific protein 1,
• Gene location: Xq13.1 (60945077: 60866453)     Exons: 13     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 300149

Protein Summary

• Protein general information: Q99966  
  • Name: Cbp/p300 interacting transactivator 1 (Melanocyte specific protein 1)
  • Length: 193  
  • Mass: 19896
  • Tissue specificity: Expressed only in melanocytes and testis.
• Sequence:

  MPTTSRPALDVKGGTSPAKEDANQEMSSVAYSNLAVKDRKAVAILHYPGVASNGTKASGAPTSSSGSPIGSPTTT
  PPTKPPSFNLHPAPHLLASMHLQKLNSQYQGMAAATPGQPGEAGPLQNWDFGAQAGGAESLSPSAGAQSPAIIDS
  DPVDEEVLMSLVVELGLDRANELPELWLGQNEFDFTADFPSSC

• Structural information:
  • Interpro: IPR007576  
  • STRING: ENSP00000401764
• Other Databases: GeneCards:  CITED1  Malacards:  CITED1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030318	melanocyte differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0071559	response to transforming growth factor beta	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042981	regulation of apoptotic process	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IDA	biological process
GO:0006913	nucleocytoplasmic transport	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000578	embryonic axis specification	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0003340	negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0060711	labyrinthine layer development	IEA	biological process
GO:0060712	spongiotrophoblast layer development	IEA	biological process
GO:0070669	response to interleukin-2	IEA	biological process
GO:0070741	response to interleukin-6	IEA	biological process
GO:0071104	response to interleukin-9	IEA	biological process
GO:0071105	response to interleukin-11	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0034341	response to interferon-gamma	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0070555	response to interleukin-1	IEA	biological process
GO:0070670	response to interleukin-4	IEA	biological process
GO:0071107	response to parathyroid hormone	IEA	biological process
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0001656	metanephros development	TAS	biological process
GO:1902462	positive regulation of mesenchymal stem cell proliferation	TAS	biological process
GO:0043627	response to estrogen	TAS	biological process
GO:0060231	mesenchymal to epithelial transition	TAS	biological process
GO:0030178	negative regulation of Wnt signaling pathway	TAS	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0050693	LBD domain binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043627	response to estrogen	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0071105	response to interleukin-11	ISS	biological process
GO:0070741	response to interleukin-6	ISS	biological process
GO:0070669	response to interleukin-2	ISS	biological process
GO:0051591	response to cAMP	ISS	biological process
GO:0043473	pigmentation	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0070670	response to interleukin-4	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0034341	response to interferon-gamma	ISS	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0001890	placenta development	ISS	biological process
GO:0071104	response to interleukin-9	ISS	biological process
GO:0045668	negative regulation of osteoblast differentiation	ISS	biological process
GO:0042438	melanin biosynthetic process	ISS	biological process
GO:0032496	response to lipopolysaccharide	ISS	biological process
GO:0030318	melanocyte differentiation	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071107	response to parathyroid hormone	ISS	biological process
GO:0070555	response to interleukin-1	ISS	biological process
GO:0034097	response to cytokine	ISS	biological process
GO:0032868	response to insulin	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881