U.S. flag

An official website of the United States government

MCPH1 microcephalin 1 [ Homo sapiens (human) ]

Gene ID: 79648, updated on 10-Dec-2024

Summary

Official Symbol
MCPH1provided by HGNC
Official Full Name
microcephalin 1provided by HGNC
Primary source
HGNC:HGNC:6954
See related
Ensembl:ENSG00000147316 MIM:607117; AllianceGenome:HGNC:6954
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MCPH1 in Genome Data Viewer
Location:
8p23.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6406627..6648508)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6161207..6402976)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6264148..6506029)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377797 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103459 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6170563-6171762 Neighboring gene NANOG hESC enhancer GRCh37_chr8:6189146-6189652 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:6247558-6248757 Neighboring gene MPRA-validated peak6892 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26946 Neighboring gene Sharpr-MPRA regulatory region 14576 Neighboring gene MCPH1 divergent transcript Neighboring gene adenylate kinase isoenzyme 6-like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:6385720-6386919 Neighboring gene angiopoietin 2 Neighboring gene Sharpr-MPRA regulatory region 12768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6419583-6420108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6420109-6420635 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6434138-6434684 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:6436241-6436413 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103492 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:6446215-6446714 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6451447-6452362 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6450530-6451446 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6456108-6457307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6459927-6460426 Neighboring gene NANOG hESC enhancer GRCh37_chr8:6473596-6474097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6481178-6481678 Neighboring gene MCPH1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6505663-6506862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26950 Neighboring gene microRNA 8055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18884 Neighboring gene protein tyrosine phosphatase non-receptor type 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26955 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microcephaly 1, primary, autosomal recessive
MedGen: C1855081 OMIM: 251200 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ12847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
located_in centrosome  
located_in cytoplasm  
located_in nucleoplasm  

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_016619.3 RefSeqGene

    Range
    5002..246883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172574.2NP_001166045.2  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
    Consensus CDS
    CCDS55190.1
    UniProtKB/TrEMBL
    A0A8I5KRI7
    Related
    ENSP00000430962.1, ENST00000519480.6
    Conserved Domains (2) summary
    cd17716
    Location:886
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:225607
    Microcephalin; Microcephalin protein
  2. NM_001172575.2NP_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
    Consensus CDS
    CCDS55191.1
    UniProtKB/TrEMBL
    A0A8I5KRI7
    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
    Consensus CDS
    CCDS94246.1
    UniProtKB/TrEMBL
    A0A8I5KV10, A0A8I5KX36
    Related
    ENSP00000509554.1, ENST00000689348.1
    Conserved Domains (4) summary
    cd17716
    Location:886
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:648723
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:749824
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:227603
    Microcephalin; Microcephalin protein
  4. NM_001322043.2NP_001308972.2  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
    Consensus CDS
    CCDS94250.1
    UniProtKB/TrEMBL
    A0A8I5KR64, A0A8I5KRI7
    Related
    ENSP00000510001.1, ENST00000685179.1
    Conserved Domains (2) summary
    cd17716
    Location:884
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:223605
    Microcephalin; Microcephalin protein
  5. NM_001322045.2NP_001308974.2  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
    UniProtKB/TrEMBL
    A0A8I5KRI7
    Conserved Domains (2) summary
    cd17716
    Location:152
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:191573
    Microcephalin; Microcephalin protein
  6. NM_001363979.1NP_001350908.1  microcephalin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC016065, AC018398, AF287957
    Consensus CDS
    CCDS94248.1
    UniProtKB/TrEMBL
    A0A8I5KW78, A0A8I5KX36
    Related
    ENSP00000510536.1, ENST00000690826.1
    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
    Consensus CDS
    CCDS94249.1
    UniProtKB/TrEMBL
    A0A8I5KR97, A0A8I5QKY7
    Related
    ENSP00000509054.1, ENST00000689633.1
    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_001410916.1NP_001397845.1  microcephalin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC016065, AC018398
    Consensus CDS
    CCDS94245.1
    UniProtKB/TrEMBL
    A0A8I5KZ89, A0A8I5QKY7
    Related
    ENSP00000510652.1, ENST00000691435.1
  9. NM_001410917.1NP_001397846.1  microcephalin isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC016065, AC018398, AF287957
    Consensus CDS
    CCDS94247.1
    UniProtKB/TrEMBL
    A0A8I5KPV6, A0A8I5KX36
    Related
    ENSP00000509072.1, ENST00000692938.1
  10. 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
    UniProtKB/Swiss-Prot
    A0A075B6F8, B4DWW2, E9PGU5, E9PH63, Q66GU1, Q8NEM0, Q9H9C7
    UniProtKB/TrEMBL
    A0A8I5KX36
    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_136159.2 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    6406627..6648508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013833.3XP_016869322.1  microcephalin isoform X7

    UniProtKB/TrEMBL
    A0A8I5QKY7
  2. XM_047422234.1XP_047278190.1  microcephalin isoform X5

    UniProtKB/TrEMBL
    A0A8I5KX36
  3. XM_047422233.1XP_047278189.1  microcephalin isoform X2

    UniProtKB/TrEMBL
    A0A8I5KX36
    Related
    ENSP00000510092.1, ENST00000688388.1
  4. XM_017013829.3XP_016869318.1  microcephalin isoform X1

    UniProtKB/TrEMBL
    A0A8I5KX36
  5. XM_017013832.3XP_016869321.1  microcephalin isoform X3

    UniProtKB/TrEMBL
    A0A8I5QKY7
  6. XM_011534757.4XP_011533059.1  microcephalin isoform X6

    UniProtKB/TrEMBL
    A0A8I5QKY7
    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. XM_011534756.4XP_011533058.1  microcephalin isoform X4

    UniProtKB/TrEMBL
    A0A8I5QKY7
    Related
    ENST00000688912.1
    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_011534758.4XP_011533060.1  microcephalin isoform X8

    UniProtKB/TrEMBL
    A0A8I5QKY7
    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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791785.1 Reference GRCh38.p14 PATCHES

    Range
    342105..416356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    6161207..6402976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361230.1XP_054217205.1  microcephalin isoform X7

    UniProtKB/TrEMBL
    A0A1B2M4G2
  2. XM_054361228.1XP_054217203.1  microcephalin isoform X5

    UniProtKB/TrEMBL
    A0A8I5KX36
  3. XM_054361225.1XP_054217200.1  microcephalin isoform X2

    UniProtKB/TrEMBL
    A0A8I5KX36
  4. XM_054361224.1XP_054217199.1  microcephalin isoform X1

    UniProtKB/TrEMBL
    A0A8I5KX36
  5. XM_054361226.1XP_054217201.1  microcephalin isoform X3

    UniProtKB/TrEMBL
    A0A1B2M4G2
  6. XM_054361227.1XP_054217202.1  microcephalin isoform X4

    UniProtKB/TrEMBL
    A0A1B2M4G2
  7. XM_054361229.1XP_054217204.1  microcephalin isoform X6

    UniProtKB/TrEMBL
    A0A1B2M4G2
  8. XM_054361231.1XP_054217206.1  microcephalin isoform X8

    UniProtKB/TrEMBL
    A0A1B2M4G2
External link. Please review our privacy policy.