Entity Details

Primary name TLL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43897
EntryNameTLL1_HUMAN
FullNameTolloid-like protein 1
TaxID9606
Evidenceevidence at protein level
Length1013
SequenceStatuscomplete
DateCreated2006-02-07
DateModified2021-06-02

Ontological Relatives

GenesTLL1

GO terms

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GOName
GO:0001501 skeletal system development
GO:0004222 metalloendopeptidase activity
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0008270 zinc ion binding
GO:0022617 extracellular matrix disassembly
GO:0030154 cell differentiation
GO:0030199 collagen fibril organization

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000742 EGF-like domainDomainDomain
IPR000859 CUB domainDomainDomain
IPR001506 Peptidase M12ADomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR006026 Peptidase, metallopeptidaseDomainDomain
IPR015446 Bone morphogenetic protein 1/tolloid-like proteinFamilyFamily
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site
IPR024079 Metallopeptidase, catalytic domain superfamilyFamilyHomologous superfamily
IPR034036 Tolloid/BMP1 peptidase domainDomainDomain
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613087 OMIMAtrial septal defect 6 (ASD6)A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
TLL1_HUMANA4_HUMANBioGRID21832049 details
TLL1_HUMANCHRD_HUMANHPRD10479448 details