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MNS1 meiosis specific nuclear structural 1 [ Homo sapiens (human) ]

Gene ID: 55329, updated on 17-Jun-2019

Summary

Official Symbol
MNS1provided by HGNC
Official Full Name
meiosis specific nuclear structural 1provided by HGNC
Primary source
HGNC:HGNC:29636
See related
Ensembl:ENSG00000138587 MIM:610766
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPATA40
Summary
This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]
Expression
Biased expression in testis (RPKM 28.7), kidney (RPKM 5.6) and 13 other tissues See more
Orthologs

Genomic context

See MNS1 in Genome Data Viewer
Location:
15q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (56428724..56465137, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (56720929..56757335, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene testis expressed 9 Neighboring gene RNA, U6 small nuclear 1287, pseudogene Neighboring gene high mobility group box 1 pseudogene 33 Neighboring gene uncharacterized LOC105370831 Neighboring gene uncharacterized LOC105370832

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
NHGRI GWA Catalog
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
NHGRI GWA Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of meiosis-specific nuclear structural 1 (MNS1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11222, FLJ26051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cilium assembly IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IEA
Inferred from Electronic Annotation
more info
 
intermediate filament IEA
Inferred from Electronic Annotation
more info
 
motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
sperm flagellum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
meiosis-specific nuclear structural protein 1
Names
spermatogenesis associated 40

NCBI Reference Sequences (RefSeq)

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_018365.3NP_060835.1  meiosis-specific nuclear structural protein 1

    See identical proteins and their annotated locations for NP_060835.1

    Status: REVIEWED

    Source sequence(s)
    AC084782, AK002084, AK057542, BC034991
    Consensus CDS
    CCDS10158.1
    UniProtKB/Swiss-Prot
    Q8NEH6
    UniProtKB/TrEMBL
    B3KQ70
    Related
    ENSP00000260453.3, ENST00000260453.4
    Conserved Domains (1) summary
    pfam13868
    Location:117462
    TPH; Trichohyalin-plectin-homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    56428724..56465137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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