Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51506
Gene name	Ubiquitin-fold modifier conjugating enzyme 1
Gene symbol	UFC1
Synonyms (NCBI Gene)	HSPC155NEDSG
Chromosome	1
Chromosome location	1q23.3
Summary	UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1181612302	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030112	hsa-miR-26b-5p	Microarray	19088304
MIRT031996	hsa-miR-16-5p	Sequencing	20371350
MIRT037383	hsa-miR-744-5p	CLASH	23622248
MIRT456337	hsa-miR-595	PAR-CLIP	23592263
MIRT456336	hsa-miR-487b-3p	PAR-CLIP	23592263
MIRT456335	hsa-miR-4424	PAR-CLIP	23592263
MIRT456337	hsa-miR-595	PAR-CLIP	23592263
MIRT456336	hsa-miR-487b-3p	PAR-CLIP	23592263
MIRT456335	hsa-miR-4424	PAR-CLIP	23592263
MIRT2142372	hsa-miR-1184	CLIP-seq
MIRT2142373	hsa-miR-1301	CLIP-seq
MIRT2142374	hsa-miR-217	CLIP-seq
MIRT2142375	hsa-miR-2355-5p	CLIP-seq
MIRT2142376	hsa-miR-3650	CLIP-seq
MIRT2142377	hsa-miR-4418	CLIP-seq
MIRT2142378	hsa-miR-4659a-3p	CLIP-seq
MIRT2142379	hsa-miR-4659b-3p	CLIP-seq
MIRT2142380	hsa-miR-4660	CLIP-seq
MIRT2142381	hsa-miR-5047	CLIP-seq
MIRT2142382	hsa-miR-509-3-5p	CLIP-seq
MIRT2142383	hsa-miR-509-5p	CLIP-seq
MIRT2142384	hsa-miR-802	CLIP-seq
MIRT2362918	hsa-miR-3925-3p	CLIP-seq
MIRT2362919	hsa-miR-548u	CLIP-seq
MIRT2362920	hsa-miR-766	CLIP-seq
MIRT2142375	hsa-miR-2355-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20018847, 25902260, 29868776, 30886146, 32296183, 32814053, 33961781, 37595036
GO:0007420	Process	Brain development	IMP	29868776
GO:0032649	Process	Regulation of type II interferon production	IEA
GO:0032649	Process	Regulation of type II interferon production	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	23152784
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	32160526
GO:0061657	Function	UFM1 conjugating enzyme activity	IDA	15071506, 34588452, 36121123, 38383789
GO:0061657	Function	UFM1 conjugating enzyme activity	IEA
GO:0061657	Function	UFM1 conjugating enzyme activity	IMP	37036982
GO:0061709	Process	Reticulophagy	IBA
GO:0061709	Process	Reticulophagy	IMP	32160526
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071568	Function	UFM1 transferase activity	IBA
GO:0071569	Process	Protein ufmylation	IDA	20018847, 30886146, 32160526
GO:0071569	Process	Protein ufmylation	IDA	15071506, 34588452, 36121123, 38383789
GO:0071569	Process	Protein ufmylation	IEA
GO:0071569	Process	Protein ufmylation	IMP	23152784
GO:0071569	Process	Protein ufmylation	IMP	29868776, 30626644, 32160526, 37036982
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

MIM	HGNC	e!Ensembl
610554	26941	ENSG00000143222

Q9Y3C8

Protein name

Ubiquitin-fold modifier-conjugating enzyme 1 (Ufm1-conjugating enzyme 1)

Protein function

E2-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776, PubMed:30626644, PubMed:34588452, PubMed:35394863, PubMed:36121123, PubMed:38383789). Accepts the ubiquitin-like modifier UFM1 from the

PDB

2K07 , 2Z6O , 2Z6P , 3EVX , 7NVJ , 7NVK , 7NW1 , 7OVC , 8BZR , 8C0D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08694	UFC1	6 → 160	Ubiquitin-fold modifier-conjugating enzyme 1	Domain

Sequence

MADEATRRVVSEIPVLKTNAGPRDRELWVQRLKEEYQSLIRYVENNKNADNDWFRLESNK
EGTRWFGKCWYIHDLLKYEFDIEFDIPITYPTTAPEIAVPELDGKTAKMYRGGKICLTDH
FKPLWARNVPKFGLAHLMALGLGPWLAVEIPDLIQKGVIQHKEKCNQ

Sequence length

167

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with spasticity and poor growth	Pathogenic; Likely pathogenic	rs1248346344, rs1553232770, rs1181612302	RCV002284999 RCV000677144 RCV000677145	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UFC1-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	40596977	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	29868776, 30552426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31544897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31544897, 35680375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27529373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30552426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30552426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25449213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31544897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25449213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29970131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31544897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	29868776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	29868776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25449213, 29970131		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	Neurodevelopmental Disorder With Spasticity And Poor Growth	GENOMICS_ENGLAND_DG	27431290, 29868776, 30914295		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	Neurodevelopmental Disorder With Spasticity And Poor Growth	UNIPROT_DG	29868776		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	Neurodevelopmental Disorder With Spasticity And Poor Growth	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29970131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29970131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	40596977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UFC1 (ubiquitin-fold modifier conjugating enzyme 1)