• Gene id: 8521

Gene Summary

• Gene Symbol: GCM1   Gene   UCSC   Ensembl
• Aliases: GCMA, hGCMa
• Gene name: glial cells missing transcription factor 1
• Alternate names: chorion-specific transcription factor GCMa, GCM motif protein 1, glial cells missing homolog 1,
• Gene location: 6p12.1 (53262802: 53126960)     Exons: 11     NC_000006.12
• Gene summary(Entrez): This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets
• OMIM: 615323

Protein Summary

• Protein general information: Q9NP62  
  • Name: Chorion specific transcription factor GCMa (hGCMa) (GCM motif protein 1) (Glial cells missing homolog 1)
  • Length: 436  
  • Mass: 49268
  • Tissue specificity: Highly expressed in the placenta (PubMed
• Sequence:

  MEPDDFDSEDKEILSWDINDVKLPQNVKKTDWFQEWPDSYAKHIYSSEDKNAQRHLSSWAMRNTNNHNSRILKKS
  CLGVVVCGRDCLAEEGRKIYLRPAICDKARQKQQRKRCPNCDGPLKLIPCRGHGGFPVTNFWRHDGRFIFFQSKG
  EHDHPKPETKLEAEARRAMKKVNTAPSSVSLSLKGSTETRSLPGETQSQGSLPLTWSFQEGVQLPGSYSGHLIAN
  TPQQNSLNDCFSFSKSYGLGGITDLTDQTSTVDPMKLYEKRKLSSSRTYSSGDLLPPSASGVYSDHGDLQAWSKN
  AALGRNHLADNCYSNYPFPLTSWPCSFSPSQNSSEPFYQQLPLEPPAAKTGCPPLWPNPAGNLYEEKVHVDFNSY
  VQSPAYHSPQEDPFLFTYASHPHQQYSLPSKSSKWDFEEEMTYLGLDHCNNDMLLNLCPLR

• Structural information:
  • Interpro: IPR039791  IPR036115  IPR043020  IPR043021  IPR003902  
  • Prosite: PS50807
  • STRING: ENSP00000259803
• Other Databases: GeneCards:  GCM1  Malacards:  GCM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0060018	astrocyte fate commitment	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060143	positive regulation of syncytium formation by plasma membrane fusion	IEA	biological process
GO:0060670	branching involved in labyrinthine layer morphogenesis	IEA	biological process
GO:0060706	cell differentiation involved in embryonic placenta development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006366	transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0060706	cell differentiation involved in embryonic placenta development	IBA	biological process
GO:0042063	gliogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0060800	regulation of cell differentiation involved in embryonic placenta development	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq