Entity Details

Primary name EXTL3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43909
EntryNameEXTL3_HUMAN
FullNameExostosin-like 3
TaxID9606
Evidenceevidence at protein level
Length919
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesEXTL3

GO terms

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GOName
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0006486 protein glycosylation
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0016021 integral component of membrane
GO:0016757 glycosyltransferase activity
GO:0030307 positive regulation of cell growth
GO:0036498 IRE1-mediated unfolded protein response
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus

Domains

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DomainNameCategoryType
IPR004263 Exostosin-likeFamilyFamily
IPR015338 Glycosyl transferase 64 domainDomainDomain
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily
IPR040911 Exostosin, GT47 domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617425 OMIMImmunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. The disease is caused by variants affecting the gene represented in this entry.