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MCPH1 microcephalin 1 [ Homo sapiens (human) ]

Gene ID: 79648, updated on 17-Jun-2019

Summary

Official Symbol
MCPH1provided by HGNC
Official Full Name
microcephalin 1provided by HGNC
Primary source
HGNC:HGNC:6954
See related
Ensembl:ENSG00000147316 MIM:607117
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
MCT; BRIT1
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 1.3), testis (RPKM 1.1) and 25 other tissues See more
Orthologs

Genomic context

See MCPH1 in Genome Data Viewer
Location:
8p23.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (6406592..6648508)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6264113..6501140)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377797 Neighboring gene uncharacterized LOC100287015 Neighboring gene adenylate kinase isoenzyme 6 pseudogene Neighboring gene angiopoietin 2 Neighboring gene MCPH1 antisense RNA 1 Neighboring gene microRNA 8055 Neighboring gene protein tyrosine phosphatase non-receptor type 4 pseudogene Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5 Neighboring gene microRNA 4659a Neighboring gene microRNA 4659b

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
NHGRI GWA Catalog
Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
NHGRI GWA Catalog
Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Condensation of Prophase Chromosomes, organism-specific biosystem (from REACTOME)
    Condensation of Prophase Chromosomes, organism-specific biosystemIn mitotic prophase, the action of the condensin II complex enables initial chromosome condensation.The condensin II complex subunit NCAPD3 binds monomethylated histone H4 (H4K20me1), thereby associa...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bone development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
establishment of mitotic spindle orientation IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
neuronal stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
protein localization to centrosome IEA
Inferred from Electronic Annotation
more info
 
regulation of centrosome cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of chromosome condensation IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of kinase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
microcephalin
Names
BRCT-repeat inhibitor of TERT expression 1
truncated microcephalin

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016619.2 RefSeqGene

    Range
    5001..246914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172574.1NP_001166045.1  microcephalin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as MCPH1deltae9-14) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC016065, AI379664, AK301702, BC030702, DC321458
    Consensus CDS
    CCDS55190.1
    UniProtKB/Swiss-Prot
    Q8NEM0
    Related
    ENSP00000430962.1, ENST00000519480.5
    Conserved Domains (2) summary
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  2. NM_001172575.1NP_001166046.1  microcephalin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC016065, AI379664, AK301702, BC030702, DC321458
    Consensus CDS
    CCDS55191.1
    UniProtKB/Swiss-Prot
    Q8NEM0
    Related
    ENSP00000430768.1, ENST00000522905.1
    Conserved Domains (2) summary
    pfam12258
    Location:179555
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  3. NM_001322042.2NP_001308971.2  microcephalin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an additional exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AC016065, AC018398, AF287957
  4. NM_001322043.1NP_001308972.1  microcephalin isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, and lacks several 3' exons but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC016065, AI652127, AK022909, BC030702, BX369769, DB218495, DC321458, HY014621
    UniProtKB/Swiss-Prot
    Q8NEM0
    Conserved Domains (2) summary
    pfam12258
    Location:225601
    Microcephalin; Microcephalin protein
    pfam12738
    Location:873
    PTCB-BRCT; twin BRCT domain
  5. NM_001322045.1NP_001308974.1  microcephalin isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, and it also lacks several 3' exons but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (6) is shorter at the N-terminus and has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC016065, AI652127, AK022909, BC030702, BX369769, HY014621
    UniProtKB/Swiss-Prot
    Q8NEM0
    Conserved Domains (2) summary
    pfam12258
    Location:193569
    Microcephalin; Microcephalin protein
    pfam12738
    Location:141
    PTCB-BRCT; twin BRCT domain
  6. NM_001363979.1NP_001350908.1  microcephalin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC016065, AC018398, AF287957
    Conserved Domains (3) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  7. NM_001363980.2NP_001350909.1  microcephalin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC016065, AF287957
    Conserved Domains (3) summary
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
    cl00038
    Location:670739
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
  8. NM_024596.5NP_078872.3  microcephalin isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as MCPH1-FL) encodes isoform 1.
    Source sequence(s)
    AC016065, AC018398, AF287957
    Consensus CDS
    CCDS43689.1
    Related
    ENSP00000342924.5, ENST00000344683.10
    Conserved Domains (4) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
    cl00038
    Location:763832
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

RNA

  1. NR_136159.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an internal exon and several 3' exons, but contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016065, AI652127, AK022909, BC030702, BX369769, DC321458, HY014621

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    6406592..6648508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013833.2XP_016869322.1  microcephalin isoform X8

  2. XM_011534757.3XP_011533059.1  microcephalin isoform X7

    Conserved Domains (3) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  3. XM_011534756.3XP_011533058.1  microcephalin isoform X6

    Conserved Domains (3) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  4. XM_011534759.3XP_011533061.1  microcephalin isoform X10

    Conserved Domains (3) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  5. XM_011534758.3XP_011533060.1  microcephalin isoform X9

    Conserved Domains (3) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  6. XM_017013829.2XP_016869318.1  microcephalin isoform X1

  7. XM_011534755.3XP_011533057.1  microcephalin isoform X2

    Conserved Domains (3) summary
    cd00027
    Location:669714
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
    pfam12738
    Location:975
    PTCB-BRCT; twin BRCT domain
  8. XM_017013831.2XP_016869320.1  microcephalin isoform X4

  9. XM_017013832.2XP_016869321.1  microcephalin isoform X5

  10. XM_011534760.2XP_011533062.1  microcephalin isoform X12

    Conserved Domains (2) summary
    cd00027
    Location:494539
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam12258
    Location:52428
    Microcephalin; Microcephalin protein

RNA

  1. XR_001745596.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    8385..43778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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