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    MEIKIN meiotic kinetochore factor [ Homo sapiens (human) ]

    Gene ID: 728637, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MEIKINprovided by HGNC
    Official Full Name
    meiotic kinetochore factorprovided by HGNC
    Primary source
    HGNC:HGNC:51253
    See related
    Ensembl:ENSG00000239642 MIM:616232; AllianceGenome:HGNC:51253
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPO13
    Summary
    Predicted to be involved in meiotic chromosome segregation. Predicted to be located in kinetochore. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 3.3) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131806990..131945663, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132326854..132465546, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131142683..131281356, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Rap guanine nucleotide exchange factor 6 Neighboring gene Sharpr-MPRA regulatory region 5338 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130970112-130970694 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130970824-130972023 Neighboring gene folliculin interacting protein 1 Neighboring gene ACTB pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16309 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:131267911-131268464 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131293433-131293633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131329699-131330242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131330787-131331330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131337447-131338042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16310 Neighboring gene uncharacterized LOC124901062 Neighboring gene acyl-CoA synthetase long chain family member 6 Neighboring gene ACSL6 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. Luo XJ, et al. J Med Genet, 2008 Dec. PMID 18718982
    2. Meikin is a conserved regulator of meiosis-I-specific kinetochore function. Kim J, et al. Nature, 2015 Jan 22. PMID 25533956
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, 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

    What's a GeneRIF?
    1. Single marker analysis indicated that SNP5 (rs1355095) in LOC728637 is associated with schizophrenia in Han Chinese.
      Title: Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ACSL6

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in female meiosis chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in female meiosis chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in homologous chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in male meiosis chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in male meiosis chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic sister chromatid cohesion involved in meiosis I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic sister chromatid cohesion involved in meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic sister chromatid cohesion, centromeric IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic sister chromatid cohesion, centromeric ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in condensed chromosome, centromeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    meiosis-specific kinetochore protein

    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_001303622.2 → NP_001290551.1  meiosis-specific kinetochore protein

      See identical proteins and their annotated locations for NP_001290551.1

      Status: VALIDATED

      Source sequence(s)
      AB987829, BG181951, DB455285
      Consensus CDS
      CCDS75292.2
      UniProtKB/Swiss-Prot
      A0A087WXM9, A0A0A8IBZ9
      UniProtKB/TrEMBL
      A0A0G2JND4
      Related
      ENSP00000488568.1, ENST00000442687.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      131806990..131945663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      132326854..132465546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001278059.1: Suppressed sequence

      Description
      NM_001278059.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A087WXM9.2 GenPept UniProtKB/Swiss-Prot:A0A087WXM9

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