UniProt functional annotation for Q9NWM8



	UniProt functional annotation for Q9NWM8

UniProt code: Q9NWM8.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4- hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens. {ECO:0000269|PubMed:24821723}.

Catalytic activity: Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence={ECO:0000269|PubMed:24821723};

Activity regulation: Inhibited by tacrolimus/FK506. {ECO:0000269|PubMed:24821723}.

Subunit: Monomer (PubMed:24821723, PubMed:24272907). Homodimer (PubMed:24821723, PubMed:24272907). Interacts with type III, type IV and type X collagens (PubMed:24821723). {ECO:0000269|PubMed:24272907, ECO:0000269|PubMed:24821723}.

Subcellular location: Endoplasmic reticulum lumen {ECO:0000255|PROSITE- ProRule:PRU10138, ECO:0000269|PubMed:22265013}.

Disease: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) [MIM:614557]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. {ECO:0000269|PubMed:22265013}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4- hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens. {ECO:0000269\|PubMed:24821723}.


Catalytic activity:		Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence={ECO:0000269\|PubMed:24821723};
Activity regulation:		Inhibited by tacrolimus/FK506. {ECO:0000269\|PubMed:24821723}.
Subunit:		Monomer (PubMed:24821723, PubMed:24272907). Homodimer (PubMed:24821723, PubMed:24272907). Interacts with type III, type IV and type X collagens (PubMed:24821723). {ECO:0000269\|PubMed:24272907, ECO:0000269\|PubMed:24821723}.
Subcellular location:		Endoplasmic reticulum lumen {ECO:0000255\|PROSITE- ProRule:PRU10138, ECO:0000269\|PubMed:22265013}.
Disease:		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) [MIM:614557]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. {ECO:0000269\|PubMed:22265013}. Note=The disease is caused by variants affecting the gene represented in this entry.