U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mcph1 microcephaly, primary autosomal recessive 1 [ Mus musculus (house mouse) ]

Gene ID: 244329, updated on 18-Apr-2024

Summary

Official Symbol
Mcph1provided by MGI
Official Full Name
microcephaly, primary autosomal recessive 1provided by MGI
Primary source
MGI:MGI:2443308
See related
Ensembl:ENSMUSG00000039842 AllianceGenome:MGI:2443308
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
MCT; BRIT1; 5430437K10Rik; D030046N04Rik; Tg(HLA-A2.1)1Enge
Summary
Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including establishment of mitotic spindle orientation; neuronal stem cell population maintenance; and protein localization to centrosome. Predicted to be located in cytoplasm and cytoskeleton. Is expressed in brain. Used to study microcephaly. Human ortholog(s) of this gene implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Orthologous to human MCPH1 (microcephalin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver E14 (RPKM 1.8), liver E14.5 (RPKM 1.8) and 28 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Location:
8 A1.3; 8 10.24 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (18645132..18858110)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (18595116..18808089)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40463 Neighboring gene predicted gene, 24469 Neighboring gene predicted gene, 35740 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:18595081-18595264 Neighboring gene predicted gene, 25763 Neighboring gene predicted gene, 16725 Neighboring gene predicted gene 17149 Neighboring gene angiopoietin 2 Neighboring gene predicted gene, 53403 Neighboring gene STARR-positive B cell enhancer mm9_chr8:18846064-18846365 Neighboring gene STARR-seq mESC enhancer starr_20847 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC66518

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

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.

mRNA and Protein(s)

  1. NM_001427074.1NP_001414003.1  microcephalin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  2. NM_001427075.1NP_001414004.1  microcephalin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  3. NM_001427077.1NP_001414006.1  microcephalin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  4. NM_001427078.1NP_001414007.1  microcephalin isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  5. NM_001427079.1NP_001414008.1  microcephalin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  6. NM_001427080.1NP_001414009.1  microcephalin isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  7. NM_001427081.1NP_001414010.1  microcephalin isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
  8. NM_173189.4NP_775281.2  microcephalin isoform 3

    See identical proteins and their annotated locations for NP_775281.2

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567
    Consensus CDS
    CCDS22124.1
    UniProtKB/Swiss-Prot
    Q7TT79, Q8BNI9, Q8C9I7
    UniProtKB/TrEMBL
    Q3UGB7
    Related
    ENSMUSP00000037000.9, ENSMUST00000039412.15
    Conserved Domains (4) summary
    cd00027
    Location:637705
    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:226594
    Microcephalin; Microcephalin protein
    pfam12738
    Location:1581
    PTCB-BRCT; twin BRCT domain
    cl00038
    Location:755819
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    18645132..18858110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011242056.3XP_011240358.1  microcephalin isoform X1

    Conserved Domains (4) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:696771
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:797873
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:252620
    Microcephalin; Microcephalin protein
  2. XM_011242057.3XP_011240359.1  microcephalin isoform X2

    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:696771
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:252620
    Microcephalin; Microcephalin protein
  3. XM_011242058.3XP_011240360.1  microcephalin isoform X5

    Conserved Domains (4) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:661736
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:762838
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:252620
    Microcephalin; Microcephalin protein
  4. XM_017312788.2XP_017168277.1  microcephalin isoform X3

    Conserved Domains (4) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:689764
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:790866
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:245613
    Microcephalin; Microcephalin protein
  5. XM_017312792.2XP_017168281.1  microcephalin isoform X19

    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:313388
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:414490
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
  6. XM_011242059.4XP_011240361.1  microcephalin isoform X7

    UniProtKB/TrEMBL
    Q3UGB7
    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:696771
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:252620
    Microcephalin; Microcephalin protein
  7. XM_036154019.1XP_036009912.1  microcephalin isoform X10

    UniProtKB/TrEMBL
    Q3UGB7
    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:661736
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:250623
    Microcephalin; Microcephalin protein
  8. XM_030243532.2XP_030099392.1  microcephalin isoform X11

    UniProtKB/TrEMBL
    Q3UGB7
    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:635710
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:226594
    Microcephalin; Microcephalin protein
  9. XM_017312789.3XP_017168278.1  microcephalin isoform X8

    UniProtKB/TrEMBL
    Q3UGB7
    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:696771
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:252620
    Microcephalin; Microcephalin protein
  10. XM_036154018.1XP_036009911.1  microcephalin isoform X9

    UniProtKB/TrEMBL
    Q3UGB7
    Conserved Domains (3) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    cd17736
    Location:696771
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:250623
    Microcephalin; Microcephalin protein
  11. XM_036154020.1XP_036009913.1  microcephalin isoform X14

    UniProtKB/TrEMBL
    E9PX19
    Related
    ENSMUSP00000131616.2, ENSMUST00000146819.8
    Conserved Domains (2) summary
    cd17716
    Location:1492
    BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:250623
    Microcephalin; Microcephalin protein
  12. XM_030243533.2XP_030099393.1  microcephalin isoform X13

    Conserved Domains (3) summary
    cd17736
    Location:496571
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:597673
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:52420
    Microcephalin; Microcephalin protein
  13. XM_017312791.3XP_017168280.1  microcephalin isoform X17

    UniProtKB/Swiss-Prot
    Q7TT79
    Conserved Domains (2) summary
    cd17736
    Location:461536
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:52420
    Microcephalin; Microcephalin protein
  14. XM_030243534.2XP_030099394.1  microcephalin isoform X16

    Conserved Domains (3) summary
    cd17736
    Location:461536
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:562638
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:52420
    Microcephalin; Microcephalin protein
  15. XM_036154021.1XP_036009914.1  microcephalin isoform X18

    Conserved Domains (2) summary
    cd17736
    Location:440515
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:29402
    Microcephalin; Microcephalin protein
  16. XM_006508790.3XP_006508853.1  microcephalin isoform X15

    Conserved Domains (3) summary
    cd17736
    Location:475550
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:576652
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:31399
    Microcephalin; Microcephalin protein
  17. XM_017312790.2XP_017168279.1  microcephalin isoform X12

    Conserved Domains (3) summary
    cd17736
    Location:515590
    BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
    cd17751
    Location:616692
    BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    pfam12258
    Location:71439
    Microcephalin; Microcephalin protein