Entity Details

Primary name TAPT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6NXT6
EntryNameTAPT1_HUMAN
FullNameTransmembrane anterior posterior transformation protein 1 homolog
TaxID9606
Evidenceevidence at protein level
Length567
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesTAPT1

GO terms

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GOName
GO:0001503 ossification
GO:0005813 centrosome
GO:0014032 neural crest cell development
GO:0016021 integral component of membrane
GO:0016032 viral process
GO:0016520 growth hormone-releasing hormone receptor activity
GO:0030030 cell projection organization
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0035437 maintenance of protein localization in endoplasmic reticulum
GO:0036064 ciliary basal body
GO:0045724 positive regulation of cilium assembly
GO:0048706 embryonic skeletal system development
GO:0051216 cartilage development
GO:0061036 positive regulation of cartilage development
GO:1903012 positive regulation of bone development

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane

Domains

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DomainNameCategoryType
IPR008010 Tapt1 familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
616897 OMIMOsteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG)An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TAPT1_HUMANST7_HUMANBioGRID29395067 details