2. Gene
  3. UFM1 - ubiquitin fold modifier 1 Gene

UFM1 - ubiquitin fold modifier 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HLD14; BM-002; C13orf20

Gene ID: 51569 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
20562859 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

Ufm1: Ubiquitin fold modifier 1 protein (2 - 77)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15416 UFM1 Human Pre-designed siRNA Set A Pre-designed Sets / 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