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    mcph1 microcephalin 1 [ Danio rerio (zebrafish) ]

    Gene ID: 678616, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mcph1provided by ZNC
    Official Full Name
    microcephalin 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-060421-6122
    See related
    Ensembl:ENSDARG00000058372 AllianceGenome:ZFIN:ZDB-GENE-060421-6122
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:136403
    Summary
    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, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See mcph1 in Genome Data Viewer
    Location:
    chromosome: 13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 13 NC_007124.7 (6286594..6324011, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 13 NC_007124.6 (6158134..6195551, complement)

    Chromosome 13 - NC_007124.7Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC137487360 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) Neighboring gene angiopoietin 2a Neighboring gene uncharacterized LOC101884841 Neighboring gene CUB and Sushi multiple domains 1a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Effects of microgravity simulation on zebrafish transcriptomes and bone physiology-exposure starting at 5 days post fertilization. Aceto J, et al. NPJ Microgravity, 2016. PMID 28725727, Free PMC Article
    2. Zebrafish Bone and General Physiology Are Differently Affected by Hormones or Changes in Gravity. Aceto J, et al. PLoS One, 2015. PMID 26061167, Free PMC Article
    3. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Clone Names

    • MGC136403

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    microcephalin

    NCBI Reference Sequences (RefSeq)

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    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_001040363.2 → NP_001035453.2  microcephalin isoform 2

      Status: VALIDATED

      Source sequence(s)
      CU929061, EH544828
      UniProtKB/TrEMBL
      A0A8M1N8U7, F8W5H6
      Related
      ENSDARP00000125093.1, ENSDART00000148907.3
      Conserved Domains (3) summary
      cd00027
      Location:294 → 347
      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 ...
      pfam12738
      Location:16 → 82
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:390 → 461
      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 ...

    2. NM_001430843.1 → NP_001417772.1  microcephalin isoform 1

      Status: VALIDATED

      Source sequence(s)
      CU929061
      UniProtKB/TrEMBL
      A0A8M2B3G0

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007124.7 Reference GRCz11 Primary Assembly

      Range
      6286594..6324011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068212935.1 → XP_068069036.1  microcephalin isoform X2

      UniProtKB/TrEMBL
      A0A8M1N8U7, F8W5H6

    2. XM_005157089.5 → XP_005157146.1  microcephalin isoform X1

      See identical proteins and their annotated locations for XP_005157146.1

      UniProtKB/TrEMBL
      A0A8M2B3G0
      Conserved Domains (3) summary
      cd00027
      Location:559 → 612
      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 ...
      pfam12738
      Location:16 → 82
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:655 → 726
      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 ...
    Nucleotide Protein Strain
    Heading Accession and Version

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