GCM1 glial cells missing transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GCM1provided by HGNC
Official Full Name: glial cells missing transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:4197
See related: Ensembl:ENSG00000137270 MIM:603715; AllianceGenome:HGNC:4197
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCMA; hGCMa
Summary: 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]
Expression: Biased expression in placenta (RPKM 5.9), testis (RPKM 0.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (53126961..53148841, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (52966559..52988449, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (52991759..53013639, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The multifaceted role of GCM1 during trophoblast differentiation in the human placenta.
Title: The multifaceted role of GCM1 during trophoblast differentiation in the human placenta.
Functional antagonism between DeltaNp63alpha and GCM1 regulates human trophoblast stemness and differentiation.
Title: Functional antagonism between ΔNp63α and GCM1 regulates human trophoblast stemness and differentiation.
Induction of the PPARgamma (Peroxisome Proliferator-Activated Receptor gamma)-GCM1 (Glial Cell Missing 1) Syncytialization Axis Reduces sFLT1 (Soluble fms-Like Tyrosine Kinase 1) in the Preeclamptic Placenta.
Title: Induction of the PPARγ (Peroxisome Proliferator-Activated Receptor γ)-GCM1 (Glial Cell Missing 1) Syncytialization Axis Reduces sFLT1 (Soluble fms-Like Tyrosine Kinase 1) in the Preeclamptic Placenta.
Aberrant Gcm1 expression mediates Wnt/beta-catenin pathway activation in folate deficiency involved in neural tube defects.
Title: Aberrant Gcm1 expression mediates Wnt/β-catenin pathway activation in folate deficiency involved in neural tube defects.
our studies demonstrate that DLX3 physically interacts with GCM1 and inhibits its transactivation activity, suggesting that DLX3 and GCM1 may form a complex to functionally regulate placental cell function through modulation of target gene expression.
Title: DLX3 interacts with GCM1 and inhibits its transactivation-stimulating activity in a homeodomain-dependent manner in human trophoblast-derived cells.
results suggest that p45 NF-E2 negatively regulates differentiation and apoptosis activation of human syncytiotrophoblast by modulating GCM1 acetylation and sumoylation.
Title: p45 NF-E2 regulates syncytiotrophoblast differentiation by post-translational GCM1 modifications in human intrauterine growth restriction.
Identify a novel cis-acting sequence (-369 to -320) at the placental growth factor promoter, which was critical for mediating the basal and DLX3/GCM1-dependent PGF promoter activities.
Title: Dlx3 and GCM-1 functionally coordinate the regulation of placental growth factor in human trophoblast-derived cells.
Twist1 may promote trophoblast syncytialization by regulating the expression of GCM1.
Title: Twist1 is involved in trophoblast syncytialization by regulating GCM1.
GATA3 knockdown elevated HtrA4 expression in BeWo and JEG-3 trophoblast cell lines and enhanced the invasion activities of both lines. This study uncovered a new GATA3 function in placenta as a negative regulator of GCM1 activity and trophoblastic invasion.
Title: GATA3 inhibits GCM1 activity and trophoblast cell invasion.
GLI2 stabilized glial cell missing-a, a pivotal transcriptional factor for trophoblastic syncytialization.
Title: Glioma-associated Oncogene 2 Is Essential for Trophoblastic Fusion by Forming a Transcriptional Complex with Glial Cell Missing-a.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71335 (e-PCR)
- UniSTS:46912

D1S1423 (e-PCR)
- UniSTS:149619

STS-R82207 (e-PCR)
- UniSTS:48295

PMC26236P1 (e-PCR)
- UniSTS:272297

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in astrocyte fate commitment	IEA Inferred from Electronic Annotation more info
involved_in branching involved in labyrinthine layer morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation involved in embryonic placenta development	IBA Inferred from Biological aspect of Ancestor more info
involved_in gliogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of syncytium formation by plasma membrane fusion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell differentiation involved in embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in syncytium formation by plasma membrane fusion	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chorion-specific transcription factor GCMa

Names: GCM motif protein 1; glial cells missing homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003643.4 → NP_003634.2 chorion-specific transcription factor GCMa

See identical proteins and their annotated locations for NP_003634.2

Status: REVIEWED

Source sequence(s)

AB026493, AI219562, AL512347, BC096288, BC096289, D88613

Consensus CDS

CCDS4950.1

UniProtKB/Swiss-Prot

Q4VAQ7, Q5T0X0, Q99468, Q9NP62, Q9P1X3

Related

ENSP00000259803.7, ENST00000259803.8

Conserved Domains (2) summary

pfam03615
Location:30 → 167

GCM; GCM motif protein

cl25750
Location:173 → 237

DamX; Cell division protein DamX, binds to the septal ring, contains C-terminal SPOR domain [Cell cycle control, cell division, chromosome partitioning]