UniProtKB - Q9Y3C8 (UFC1_HUMAN)
Protein
Ubiquitin-fold modifier-conjugating enzyme 1
Gene
UFC1
Organism
Homo sapiens (Human)
Status
Functioni
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).3 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 116 | Glycyl thioester intermediate2 Publications | 1 |
GO - Molecular functioni
- UFM1 conjugating enzyme activity Source: UniProtKB
- UFM1 transferase activity Source: GO_Central
GO - Biological processi
- brain development Source: UniProtKB
- protein K69-linked ufmylation Source: UniProtKB
- protein ufmylation Source: UniProtKB
- response to endoplasmic reticulum stress Source: MGI
- reticulophagy Source: UniProtKB
Keywordsi
Biological process | Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | Q9Y3C8 |
Names & Taxonomyi
Protein namesi | Recommended name: Ubiquitin-fold modifier-conjugating enzyme 1CuratedShort name: Ufm1-conjugating enzyme 11 Publication |
Gene namesi | ORF Names:CGI-1261 Publication, HSPC1551 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26941, UFC1 |
MIMi | 610554, gene |
neXtProti | NX_Q9Y3C8 |
VEuPathDBi | HostDB:ENSG00000143222.11 |
Subcellular locationi
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Pathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with spasticity and poor growth (NEDSG)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081216 | 23 | R → Q in NEDSG; decreased ability to form thioester bond with UFM1; decreased protein ufmylation. 1 PublicationCorresponds to variant dbSNP:rs1181612302EnsemblClinVar. | 1 | |
Natural variantiVAR_081217 | 106 | T → I in NEDSG; decreased ability to form thioester bond with UFM1; decreased protein ufmylation. 1 PublicationCorresponds to variant dbSNP:rs1553232770EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 30 | Q → A: Does not affect neither UBA5-binding nor thioester formation with UFM1. 1 Publication | 1 | |
Mutagenesisi | 33 | K → A: Impairs binding to UBA5 and thioester formation with UFM1. 1 Publication | 1 | |
Mutagenesisi | 116 | C → S: Instead of the formation of an intermediate complex with a thiol ester bond between UFC1 (E2-like enzyme) and UFM1 (substrate), a stable complex with an O-ester bond is formed. 2 Publications | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 51506 |
MalaCardsi | UFC1 |
MIMi | 618076, phenotype |
OpenTargetsi | ENSG00000143222 |
PharmGKBi | PA142670644 |
Miscellaneous databases
Pharosi | Q9Y3C8, Tbio |
Genetic variation databases
BioMutai | UFC1 |
DMDMi | 116242840 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000082613 | 1 – 167 | Ubiquitin-fold modifier-conjugating enzyme 1Add BLAST | 167 |
Proteomic databases
EPDi | Q9Y3C8 |
jPOSTi | Q9Y3C8 |
MassIVEi | Q9Y3C8 |
MaxQBi | Q9Y3C8 |
PaxDbi | Q9Y3C8 |
PeptideAtlasi | Q9Y3C8 |
PRIDEi | Q9Y3C8 |
ProteomicsDBi | 86017 |
PTM databases
iPTMneti | Q9Y3C8 |
PhosphoSitePlusi | Q9Y3C8 |
SwissPalmi | Q9Y3C8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000143222, Expressed in bronchial epithelial cell and 235 other tissues |
Genevisiblei | Q9Y3C8, HS |
Organism-specific databases
HPAi | ENSG00000143222, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ9Y3C8
Protein-protein interaction databases
BioGRIDi | 119577, 50 interactors |
IntActi | Q9Y3C8, 9 interactors |
STRINGi | 9606.ENSP00000356982 |
Miscellaneous databases
RNActi | Q9Y3C8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q9Y3C8 |
SMRi | Q9Y3C8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y3C8 |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3357, Eukaryota |
GeneTreei | ENSGT00390000008196 |
HOGENOMi | CLU_101170_0_0_1 |
InParanoidi | Q9Y3C8 |
OMAi | IKYVQNN |
OrthoDBi | 1339876at2759 |
PhylomeDBi | Q9Y3C8 |
TreeFami | TF313587 |
Family and domain databases
Gene3Di | 3.10.110.10, 1 hit |
InterProi | View protein in InterPro IPR016135, UBQ-conjugating_enzyme/RWD IPR014806, Ufc1 |
PANTHERi | PTHR12921, PTHR12921, 1 hit |
Pfami | View protein in Pfam PF08694, UFC1, 1 hit |
PIRSFi | PIRSF008716, DUF1782, 1 hit |
SUPFAMi | SSF54495, SSF54495, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9Y3C8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MADEATRRVV SEIPVLKTNA GPRDRELWVQ RLKEEYQSLI RYVENNKNAD
60 70 80 90 100
NDWFRLESNK EGTRWFGKCW YIHDLLKYEF DIEFDIPITY PTTAPEIAVP
110 120 130 140 150
ELDGKTAKMY RGGKICLTDH FKPLWARNVP KFGLAHLMAL GLGPWLAVEI
160
PDLIQKGVIQ HKEKCNQ
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 159 | I → N in BAF85465 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 160 | Q → H in BAD15374 (PubMed:15071506).Curated | 1 | |
Sequence conflicti | 160 | Q → H in AAF29119 (PubMed:11042152).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081216 | 23 | R → Q in NEDSG; decreased ability to form thioester bond with UFM1; decreased protein ufmylation. 1 PublicationCorresponds to variant dbSNP:rs1181612302EnsemblClinVar. | 1 | |
Natural variantiVAR_028312 | 90 | Y → C1 PublicationCorresponds to variant dbSNP:rs17849932Ensembl. | 1 | |
Natural variantiVAR_081217 | 106 | T → I in NEDSG; decreased ability to form thioester bond with UFM1; decreased protein ufmylation. 1 PublicationCorresponds to variant dbSNP:rs1553232770EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB154405 mRNA Translation: BAD15374.1 AF151884 mRNA Translation: AAD34121.1 AF161504 mRNA Translation: AAF29119.1 AK292776 mRNA Translation: BAF85465.1 AL590714 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW52646.1 CH471121 Genomic DNA Translation: EAW52647.1 BC005187 mRNA Translation: AAH05187.1 |
CCDSi | CCDS1220.1 |
RefSeqi | NP_057490.2, NM_016406.3 XP_016856939.1, XM_017001450.1 XP_016856940.1, XM_017001451.1 |
Genome annotation databases
Ensembli | ENST00000368003; ENSP00000356982; ENSG00000143222 |
GeneIDi | 51506 |
KEGGi | hsa:51506 |
UCSCi | uc001fyd.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB154405 mRNA Translation: BAD15374.1 AF151884 mRNA Translation: AAD34121.1 AF161504 mRNA Translation: AAF29119.1 AK292776 mRNA Translation: BAF85465.1 AL590714 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW52646.1 CH471121 Genomic DNA Translation: EAW52647.1 BC005187 mRNA Translation: AAH05187.1 |
CCDSi | CCDS1220.1 |
RefSeqi | NP_057490.2, NM_016406.3 XP_016856939.1, XM_017001450.1 XP_016856940.1, XM_017001451.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2K07 | NMR | - | A | 1-167 | [»] | |
2Z6O | X-ray | 1.60 | A | 1-167 | [»] | |
2Z6P | X-ray | 1.80 | A | 1-167 | [»] | |
3EVX | X-ray | 2.54 | A/B/C/D | 1-167 | [»] | |
BMRBi | Q9Y3C8 | |||||
SMRi | Q9Y3C8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119577, 50 interactors |
IntActi | Q9Y3C8, 9 interactors |
STRINGi | 9606.ENSP00000356982 |
PTM databases
iPTMneti | Q9Y3C8 |
PhosphoSitePlusi | Q9Y3C8 |
SwissPalmi | Q9Y3C8 |
Genetic variation databases
BioMutai | UFC1 |
DMDMi | 116242840 |
Proteomic databases
EPDi | Q9Y3C8 |
jPOSTi | Q9Y3C8 |
MassIVEi | Q9Y3C8 |
MaxQBi | Q9Y3C8 |
PaxDbi | Q9Y3C8 |
PeptideAtlasi | Q9Y3C8 |
PRIDEi | Q9Y3C8 |
ProteomicsDBi | 86017 |
Protocols and materials databases
Antibodypediai | 34296, 207 antibodies |
Genome annotation databases
Ensembli | ENST00000368003; ENSP00000356982; ENSG00000143222 |
GeneIDi | 51506 |
KEGGi | hsa:51506 |
UCSCi | uc001fyd.5, human |
Organism-specific databases
CTDi | 51506 |
DisGeNETi | 51506 |
GeneCardsi | UFC1 |
HGNCi | HGNC:26941, UFC1 |
HPAi | ENSG00000143222, Low tissue specificity |
MalaCardsi | UFC1 |
MIMi | 610554, gene 618076, phenotype |
neXtProti | NX_Q9Y3C8 |
OpenTargetsi | ENSG00000143222 |
PharmGKBi | PA142670644 |
VEuPathDBi | HostDB:ENSG00000143222.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3357, Eukaryota |
GeneTreei | ENSGT00390000008196 |
HOGENOMi | CLU_101170_0_0_1 |
InParanoidi | Q9Y3C8 |
OMAi | IKYVQNN |
OrthoDBi | 1339876at2759 |
PhylomeDBi | Q9Y3C8 |
TreeFami | TF313587 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y3C8 |
Miscellaneous databases
BioGRID-ORCSi | 51506, 192 hits in 883 CRISPR screens |
ChiTaRSi | UFC1, human |
EvolutionaryTracei | Q9Y3C8 |
GenomeRNAii | 51506 |
Pharosi | Q9Y3C8, Tbio |
PROi | PR:Q9Y3C8 |
RNActi | Q9Y3C8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143222, Expressed in bronchial epithelial cell and 235 other tissues |
Genevisiblei | Q9Y3C8, HS |
Family and domain databases
Gene3Di | 3.10.110.10, 1 hit |
InterProi | View protein in InterPro IPR016135, UBQ-conjugating_enzyme/RWD IPR014806, Ufc1 |
PANTHERi | PTHR12921, PTHR12921, 1 hit |
Pfami | View protein in Pfam PF08694, UFC1, 1 hit |
PIRSFi | PIRSF008716, DUF1782, 1 hit |
SUPFAMi | SSF54495, SSF54495, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | UFC1_HUMAN | |
Accessioni | Q9Y3C8Primary (citable) accession number: Q9Y3C8 Secondary accession number(s): A8K9R1 Q9P009 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 10, 2021 | |
This is version 179 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families