Entity Details

Primary name MAN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y2U8
EntryNameMAN1_HUMAN
FullNameInner nuclear membrane protein Man1
TaxID9606
Evidenceevidence at protein level
Length911
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesLEMD3

GO terms

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GOName
GO:0005637 nuclear inner membrane
GO:0005639 integral component of nuclear inner membrane
GO:0006998 nuclear envelope organization
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0031490 chromatin DNA binding
GO:0031965 nuclear membrane
GO:0032926 negative regulation of activin receptor signaling pathway
GO:1902531 regulation of intracellular signal transduction

Subcellular Location

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Subcellular Location
Nucleus inner membrane

Domains

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DomainNameCategoryType
IPR003887 LEM domainDomainDomain
IPR011015 LEM/LEM-like domain superfamilyFamilyHomologous superfamily
IPR012677 Nucleotide-binding alpha-beta plait domain superfamilyFamilyHomologous superfamily
IPR018996 Man1/Src1, C-terminalDomainDomain
IPR034394 MAN1, RNA recognition motifDomainDomain
IPR034997 Inner nuclear membrane protein Man1FamilyFamily
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily
IPR041885 MAN1, winged-helix domainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
166700 OMIMBuschke-Ollendorff syndrome (BOS)A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. The disease is caused by variants affecting the gene represented in this entry.