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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
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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

Gene LinkOut

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