Tbio MCPH1 Microcephalin

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Microcephalin

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Microcephalin

Protein Summary

Description

Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Uniprot Accession IDs

• Q8NEM0
• A0A075B6F8
• B4DWW2
• E9PGU5
• E9PH63
• Q66GU1
• Q9H9C7

Gene Name

• MCPH1

Ensembl ID

• ENST00000344683
• ENSP00000342924
• ENSG00000147316
• ENST00000519480
• ENSP00000430962
• ENST00000522905
• ENSP00000430768
• ENST00000643429
• ENSP00000496505
• ENSG00000285262
• ENST00000646478
• ENSP00000494584
• ENST00000647051
• ENSP00000493874

Symbol

• MCT
• BRIT1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.99
histone modification site profile	0.89
transcription factor perturbation	0.88
transcription factor binding site profile	0.87
trait	0.75

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 138.16   (req: < 5)

Gene RIFs: 67   (req: <= 3)

Antibodies: 325   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 138.16   (req: >= 5)

Gene RIFs: 67   (req: > 3)

Antibodies: 325   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (26)

Items per page:

5

1 – 5 of 26

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
serum alanine aminotransferase measurement	EFO_0004735	ENSG00000147316	2	2	1	5.8	76.2
serum alanine aminotransferase measurement	EFO_0004735	ENSG00000285262	2	2	1	5.8	76.2
carotid artery intima media thickness	EFO_0007117	ENSG00000285262	2	3	4		75.7
carotid artery intima media thickness	EFO_0007117	ENSG00000147316	2	3	4		75.7
heel bone mineral density	EFO_0009270	ENSG00000147316	2	2	3		71.4

Items per page:

5

1 – 5 of 26

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
serum alanine aminotransferase measurement	EFO_0004735	1	5.8	76.2
serum alanine aminotransferase measurement	EFO_0004735	1	5.8	76.2
carotid artery intima media thickness	EFO_0007117	4		75.7
carotid artery intima media thickness	EFO_0007117	4		75.7
heel bone mineral density	EFO_0009270	3		71.4

Reset Zoom  Beta Count   Odds Ratio

Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	microcephalin 1	VGNC:850	449589
Macaque	microcephalin 1		106999655
Mouse	microcephaly, primary autosomal recessive 1	MGI:2443308	244329
Rat	microcephalin 1	RGD:1560642	306594
Dog	microcephalin 1	VGNC:43091	442960

Species	Name	OMA	EggNOG	Inparanoid
Chimp	microcephalin 1
Macaque	microcephalin 1
Mouse	microcephaly, primary autosomal recessive 1
Rat	microcephalin 1
Dog	microcephalin 1

Protein Structure (8 Structures, 1 AlphaFold Model)

tutorial

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q8NEM0-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 8

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (16)

Reactome (5)

WikiPathways (11)

Cell Cycle (R-HSA-1640170)

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Find Similar Targets

Items per page:

5

1 – 5 of 5

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Cell Cycle	597 targets	R-HSA-1640170
Reactome	Cell Cycle, Mitotic	495 targets	R-HSA-69278
Reactome	Condensation of Prophase Chromosomes	43 targets	R-HSA-2299718
Reactome	M Phase	350 targets	R-HSA-68886
Reactome	Mitotic Prophase	113 targets	R-HSA-68875

Name	Explore in Pharos	Explore in Source
Cell Cycle	597 targets	R-HSA-1640170
Cell Cycle, Mitotic	495 targets	R-HSA-69278
Condensation of Prophase Chromosomes	43 targets	R-HSA-2299718
M Phase	350 targets	R-HSA-68886
Mitotic Prophase	113 targets	R-HSA-68875

Gene Ontology Terms (15)

Functions (1)

Components (3)

Processes (11)

Find Similar Targets

Items per page:

10

1 – 1 of 1

GO Term	Evidence	Assigned by
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct

Protein-Protein Interactions (98)

Explore Interacting Targets

1 – 10 of 98

• See Interactions on String-DB

CRACR2A

Tchem

Novelty:  0.11259702

p_int:  0.793967214

p_ni:  0.000002734

p_wrong:  0.206030052

Score:  0.685

Data Source:  BioPlex,STRINGDB

NCAPG2

Tbio

Novelty:  0.07545554

Score:  0.956

Data Source:  STRINGDB

NCAPD3

Tbio

Novelty:  0.02819003

Score:  0.95

Data Source:  STRINGDB

NCAPH2

Tbio

Novelty:  0.12134933

Score:  0.949

Data Source:  STRINGDB

SMC4

Tbio

Novelty:  0.01529151

Score:  0.939

Data Source:  STRINGDB

SMC2

Tchem

Novelty:  0.06898543

Score:  0.936

Data Source:  STRINGDB

CENPJ

Tbio

Novelty:  0.01337231

Score:  0.92

Data Source:  STRINGDB

CDK5RAP2

Tbio

Novelty:  0.00956263

Score:  0.918

Data Source:  STRINGDB

WDR62

Tbio

Novelty:  0.02611137

Score:  0.918

Data Source:  STRINGDB

SET

Tbio

Novelty:  0.01012327

Score:  0.901

Data Source:  Reactome,STRINGDB

Publication Statistics

PubMed Score  138.16

PubMed score by year

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PubTator Score  112.59

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

ProtVista Viewer

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Cytoplasm
Cytoskeleton
Mental retardation
Phosphoprotein
Polymorphism
Primary microcephaly
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
birth weight
carotid artery intima media thickness
common carotid intimal medial thickness
diastolic blood pressure
glomerular filtration rate
heel bone mineral density
high density lipoprotein cholesterol measurement
intraocular pressure measurement
kidney cancer
leukopenia

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype