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Gene: MCPH1 (microcephalin 1) Homo sapiens
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Symbol: MCPH1
Name: microcephalin 1
Description: Exhibits identical protein binding activity. Involved in mitotic cell cycle arrest and negative regulation of transcription by RNA polymerase II. Predicted to localize to nucleoplasm. Implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Biomarker of oral squamous cell carcinoma and renal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRCT-repeat inhibitor of TERT expression 1; BRIT1; FLJ12847; MCT; microcephalin; microcephaly, primary autosomal recessive 1; truncated microcephalin
Orthologs:
Mus musculus (house mouse) : Mcph1 (microcephaly, primary autosomal recessive 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mcph1 (microcephalin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mcph1 (microcephalin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MCPH1 (microcephalin 1)
Canis lupus familiaris (dog) : MCPH1 (microcephalin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mcph1 (microcephalin 1)
Sus scrofa (pig) : MCPH1 (microcephalin 1)
Chlorocebus sabaeus (African green monkey) : MCPH1 (microcephalin 1)
Heterocephalus glaber (naked mole-rat) : Mcph1 (microcephalin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl86,406,596 - 6,648,508 (+)EnsemblGRCh38hg38GRCh38
GRCh3886,406,592 - 6,648,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3786,264,113 - 6,501,140 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,251,529 - 6,493,434 (+)NCBINCBI36hg18NCBI36
Build 3486,276,479 - 6,489,214NCBI
Celera86,241,660 - 6,478,643 (+)NCBI
Cytogenetic Map8p23.1NCBI
HuRef86,046,225 - 6,282,052 (+)NCBIHuRef
CHM1_186,352,911 - 6,595,171 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences