Entity Details

Primary name GLDN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6ZMI3
EntryNameGLDN_HUMAN
FullNameGliomedin
TaxID9606
Evidenceevidence at protein level
Length551
SequenceStatuscomplete
DateCreated2006-07-25
DateModified2021-06-02

Ontological Relatives

GenesGLDN

GO terms

Show/Hide Table
GOName
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0032528 microvillus organization
GO:0045162 clustering of voltage-gated sodium channels
GO:0086080 protein binding involved in heterotypic cell-cell adhesion

Subcellular Location

Show/Hide Table
Subcellular Location
Cell membrane
Cell projection
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR003112 Olfactomedin-like domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR031224 GliomedinFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617194 OMIMLethal congenital contracture syndrome 11 (LCCS11)A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
GLDN_HUMANCLUS_HUMANIntAct31413325 details