UniProt functional annotation for Q9Y3C8



	UniProt functional annotation for Q9Y3C8

UniProt codes: Q9Y3C8, Q5VTX1.

Organism: Homo sapiens (Human).

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

Function: E1-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776). Accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms an intermediate with UFM1 via a thioester linkage (PubMed:15071506, PubMed:29868776). Ufmylation is involved in reticulophagy (also called ER-phagy) induced in response to endoplasmic reticulum stress (PubMed:32160526). {ECO:0000269|PubMed:15071506, ECO:0000269|PubMed:29868776, ECO:0000269|PubMed:32160526}.

Subunit: Interacts with UBA5 (via C-terminus) (PubMed:17825256, PubMed:27653677, PubMed:29868776). Interacts with UFL1 (PubMed:20018847, PubMed:30886146). Interacts with KIRREL3 (PubMed:25902260). Interacts with UFM1 (PubMed:29868776). {ECO:0000269|PubMed:17825256, ECO:0000269|PubMed:20018847, ECO:0000269|PubMed:25902260, ECO:0000269|PubMed:27653677, ECO:0000269|PubMed:29868776, ECO:0000269|PubMed:30886146}.

Disease: Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076]: An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities. {ECO:0000269|PubMed:29868776}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily. {ECO:0000305}.

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:		E1-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776). Accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms an intermediate with UFM1 via a thioester linkage (PubMed:15071506, PubMed:29868776). Ufmylation is involved in reticulophagy (also called ER-phagy) induced in response to endoplasmic reticulum stress (PubMed:32160526). {ECO:0000269\|PubMed:15071506, ECO:0000269\|PubMed:29868776, ECO:0000269\|PubMed:32160526}.


Subunit:		Interacts with UBA5 (via C-terminus) (PubMed:17825256, PubMed:27653677, PubMed:29868776). Interacts with UFL1 (PubMed:20018847, PubMed:30886146). Interacts with KIRREL3 (PubMed:25902260). Interacts with UFM1 (PubMed:29868776). {ECO:0000269\|PubMed:17825256, ECO:0000269\|PubMed:20018847, ECO:0000269\|PubMed:25902260, ECO:0000269\|PubMed:27653677, ECO:0000269\|PubMed:29868776, ECO:0000269\|PubMed:30886146}.
Disease:		Neurodevelopmental disorder with spasticity and poor growth (NEDSG) [MIM:618076]: An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities. {ECO:0000269\|PubMed:29868776}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily. {ECO:0000305}.