UFM1 - ubiquitin fold modifier 1 Gene

Also Known as HLD14; BM-002; C13orf20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51569

About UFM1

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:38,349,851-38,363,619 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 26.2), endometrium (RPKM 24.1) and 25 other tissues.

Summary

UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]

UFM1 Products (5)

mRNA	Protein	Name
NM_001286703.2	NP_001273632.1	ubiquitin-fold modifier 1 isoform 2
NM_001286704.2	NP_001273633.1	ubiquitin-fold modifier 1 isoform 3
NM_001286705.2	NP_001273634.1	ubiquitin-fold modifier 1 isoform 4
NM_001286706.2	NP_001273635.1	ubiquitin-fold modifier 1 isoform 4
NM_016617.4	NP_057701.1	ubiquitin-fold modifier 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	29868776	GOA
involved in negative regulation of protein import into nucleus	IMP IMP: Inferred from mutant phenotype	28393202	GOA
involved in protein K69-linked ufmylation	IDA IDA: Inferred from direct assay	25219498	GOA
involved in protein ufmylation	IDA IDA: Inferred from direct assay	15071506	GOA
involved in protein ufmylation	IMP IMP: Inferred from mutant phenotype	29868776	GOA
involved in regulation of intracellular estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	25219498	GOA
acts upstream of or within response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	23152784	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	32160526	GOA
involved in reticulophagy	IMP IMP: Inferred from mutant phenotype	32160526	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15071506	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15071506	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UFM1 Protein Structure

Ufm1

0
85 a.a.

Protein Preferred Names	Protein Names
ubiquitin-fold modifier 1

UFM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UFM1	P61960	KCTD21	Homo sapiens	Q4G0X4	Y2H Prey Pooling	32296183
Intra	UFM1	P61960	KCTD21	Homo sapiens	Q4G0X4	Validated Y2H	32296183
Intra	UFM1	P61960	KCTD21	Homo sapiens	Q4G0X4	Y2H Array	32296183
Intra	UFM1	P61960	S100A6	Homo sapiens	P06703	Anti Tag CoIP	33961781
Intra	UFM1	P61960	S100A6	Homo sapiens	P06703	Anti Tag CoIP	28514442
Intra	UFM1	P61960	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32296183
Intra	UFM1	P61960	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	UFM1	P61960	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

UFM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81832	UFM1 Antibody (YA1577)	WB, IHC-P, IP	Human, Mouse
HY-P81832A	UFM1 Antibody (YA1577)(PBS only)	WB, IHC-P, IP	Human, Mouse

Related Diseases

Diseases	Alias
Leukodystrophy, Hypomyelinating, 14	HLD14 Hypomyelinating Leukodystrophy 14 Leukodystrophy, Hypomyelinating, Type 14
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Beukes Hip Dysplasia	Hip Dysplasia, Beukes Type Beukes Familial Hip Dysplasia BFHD Cilliers-Beighton Syndrome Osteoarthropathy, Premature Degenerative, Of Hip Premature Degenerative Osteoarthropathy Of The Hip BHD Beukes Type Hip Dysplasia Hip Dysplasia Beukes Type Premature Degenerative Osteoarthropathy Dysplasia, Hip, Beukes Type
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Renal Cysts And Diabetes Syndrome	RCAD Mody5 Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes Cakut With Diabetes Maturity-Onset Diabetes Of The Young Type 5 Tubulointerstitial Kidney Disease, Autosomal Dominant, 3 Adtkd3 Atypical Familial Juvenile Hyperuricemic Nephropathy Atypical Fjhn Familial Hypoplastic Glomerulocystic Kidney Maturity-Onset Diabetes Of The Young, Type 5 Hyperuricemic Nephropathy, Familial Juvenile, Atypical Fjhn, Atypical Glomerulocystic Kidney Disease, Hypoplastic Type Glomerulocystic Kidney, Familial Hypoplastic Hypoplastic Type Glomerulocystic Kidney Disease Glomerulocystic Kidney Disease Hypoplastic Type Renal-Diabetes Mody5 Syndrome
Developmental And Epileptic Encephalopathy 44	DEE44 Epileptic Encephalopathy, Early Infantile, 44 Eiee44 Developmental And Epileptic Encephalopathy, 44 Early Infantile Epileptic Encephalopathy 44 Encephalopathy, Epileptic, Early Infantile, Type 44
Leukodystrophy	Leukodystrophies
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15416	UFM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18375	Ufm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24855	Ufm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	UFM1	VGNC	VGNC:54385
Mus musculus	UFM1	MGD	MGI:1915140
Felis catus	UFM1	VGNC	VGNC:102359
Rattus norvegicus	UFM1	RGD	RGD:1304890
Bos taurus	UFM1	VGNC	VGNC:107013
Macaca mulatta	UFM1	VGNC	VGNC:106310
Others	UFM1	NCBI