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

    Gene ID: 244329, updated on 17-Aug-2021

    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
    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
    BRI; MCT; BRIT1; 5430437K10Rik; D030046N04Rik; Tg(HLA-A2.1)1Enge
    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

    See Mcph1 in Genome Data Viewer
    Location:
    8; 8 A1.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (18645132..18858105)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (18595116..18808089)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (18595173..18803189)

    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 predicted gene, 25763 Neighboring gene predicted gene 17149 Neighboring gene angiopoietin 2 Neighboring gene predicted gene, 53403 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)

    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

    Homology

    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_173189.3NP_775281.2  microcephalin

      See identical proteins and their annotated locations for NP_775281.2

      Status: VALIDATED

      Source sequence(s)
      AK083572, BC056924
      Consensus CDS
      CCDS22124.1
      UniProtKB/Swiss-Prot
      Q7TT79
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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..18858105
      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_006508786.3XP_006508849.1  microcephalin isoform X4

      Conserved Domains (4) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:670745
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:771847
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:226594
      Microcephalin; Microcephalin protein
    7. XM_036154022.1XP_036009915.1  microcephalin isoform X20

      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:294369
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:395471
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    8. XM_036154023.1XP_036009916.1  microcephalin isoform X21

      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:259334
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:360436
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    9. XM_030243531.1XP_030099391.1  microcephalin isoform X6

      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
    10. XM_011242059.4XP_011240361.1  microcephalin isoform X7

      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
    11. XM_036154019.1XP_036009912.1  microcephalin isoform X10

      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
    12. XM_030243532.2XP_030099392.1  microcephalin isoform X11

      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
    13. XM_017312789.3XP_017168278.1  microcephalin isoform X8

      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
    14. XM_036154018.1XP_036009911.1  microcephalin isoform X9

      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
    15. XM_036154020.1XP_036009913.1  microcephalin isoform X14

      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
    16. 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
    17. 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
    18. 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
    19. 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
    20. 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
    21. 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
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