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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 of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]
GCM1 (Glial Cells Missing Transcription Factor 1) is a Protein Coding gene. Diseases associated with GCM1 include Cardiomyopathy, Familial Restrictive, 2 and Pre-Eclampsia. Among its related pathways are Human Early Embryo Development and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GCM2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J053148 | Promoter | 0.6 | EPDnew | 600.1 | +114.0 | 113953 | 0.1 | NFIC ZNF189 NFIA | SNODB927 GCM1 RNU6-464P RF00026-938 MN298114-205 CILK1 | |
GH06J053263 | Enhancer | 0.5 | Ensembl ENCODE dbSUPER | 600.7 | -2.0 | -1998 | 2.8 | GCM1 ELOVL5 MIR5685 MN298114-205 | ||
GH06J053147 | Promoter | 0.3 | EPDnew | 600.1 | +114.9 | 114852 | 0.1 | SNODB927 GCM1 RNU6-464P RF00026-938 MN298114-205 CILK1 | ||
GH06J053119 | Enhancer | 1.1 | Ensembl ENCODE | 12.1 | +143.1 | 143102 | 2.6 | GATAD2A PRDM10 NFKBIZ RCOR2 RXRB IRF2 FOXJ2 TCF12 MNT SOX13 | RNU6-464P GCM1 ENSG00000218713 CILK1 ENSG00000261745 piR-59394 MN298114-205 | |
GH06J053213 | Enhancer | 0.6 | Ensembl dbSUPER | 12.9 | +44.6 | 44603 | 8 | ELF1 SPI1 NCOA3 | RF00003-078 RNU1-136P ENSG00000218713 GCM1 piR-35674-450 MN298114-205 CILK1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 15385555 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 15385555 |
GO:0003677 | DNA binding | TAS | 8962155 |
GO:0003700 | DNA-binding transcription factor activity | IDA | 15385555 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | TAS,IDA | 23867755 |
GO:0005667 | transcription factor complex | IDA | 15385555 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Parathyroid hormone synthesis, secretion and action | ||
2 | Human Early Embryo Development |
Human Early Embryo Development
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IDA | 15385555 |
GO:0006366 | transcription by RNA polymerase II | IDA | 23867755 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0009653 | anatomical structure morphogenesis | TAS | 8962155 |
GO:0042063 | gliogenesis | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GCM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GCM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gcm1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gcm1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GCM-1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GCM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GCM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GCM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GCM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gcm1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16562 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007782 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | gcm 31 |
|
ManyToMany | |
gcm2 31 |
|
ManyToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1124063 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cardiomyopathy, familial restrictive, 2 |
|
|
pre-eclampsia |
|
|
persistent fetal circulation syndrome |
|
|
placenta disease |
|
|