Entity Details

Primary name MNS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NEH6
EntryNameMNS1_HUMAN
FullNameMeiosis-specific nuclear structural protein 1
TaxID9606
Evidenceevidence at protein level
Length495
SequenceStatuscomplete
DateCreated2007-08-21
DateModified2021-06-02

Ontological Relatives

GenesMNS1

GO terms

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GOName
GO:0005635 nuclear envelope
GO:0005882 intermediate filament
GO:0005930 axoneme
GO:0007288 sperm axoneme assembly
GO:0031514 motile cilium
GO:0036126 sperm flagellum
GO:0042802 identical protein binding
GO:0044782 cilium organization
GO:0045724 positive regulation of cilium assembly
GO:0051321 meiotic cell cycle
GO:0070986 left/right axis specification

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR026504 Meiosis-specific nuclear structural protein 1FamilyFamily
IPR043597 Trichohyalin-plectin-homology domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618948 OMIMHeterotaxy, visceral, 9, autosomal, with male infertility (HTX9)A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. The disease is caused by variants affecting the gene represented in this entry.

Interactions

34 interactions

InteractorPartnerSourcesPublicationsLink
MNS1_HUMANEWS_HUMANBioGRID, HPRD, IntAct16189514 details
MNS1_HUMANKDM1A_HUMANBioGRID, MINT23455924 details
MNS1_HUMANMNS1_HUMANBioGRID, IntAct25416956 details
MNS1_HUMANKRT34_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANCEP63_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANMOONR_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANK2C75_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANCDR2_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANDISC1_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANUSBP1_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANPICK1_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANAATF_HUMANIntAct32296183 details
MNS1_HUMANKANK2_HUMANIntAct32296183 details
MNS1_HUMANTTC23_HUMANIntAct32296183 details
MNS1_HUMANZGPAT_HUMANIntAct32296183 details
MNS1_HUMANFCSD2_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANRSP14_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANIQCB1_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANTNNI1_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANTNNI2_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANZMY12_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANTHOC7_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANSTMN3_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANGGYF1_HUMANIntAct32296183 details
MNS1_HUMANTRI54_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANTXLNB_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANSNX32_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANCCND3_HUMANBioGRID, IntAct32296183 details
MNS1_HUMANCLAT_HUMANIntAct32814053 details
MNS1_HUMANRASH_HUMANIntAct32814053 details
MNS1_HUMANEP400_HUMANBioGRID32296183 details
MNS1_HUMANUBE2N_HUMANBioGRID, IntAct27173435 unassigned1312 details
MNS1_HUMANHSF1_HUMANBioGRID, IntAct27173435 unassigned1312 details
MNS1_HUMANRAB28_HUMANBioGRID, IntAct27173435 unassigned1312 details