UFL1 - UFM1 specific ligase 1 Gene

Homo sapiens

Also known as NLBP; RCAD; Maxer; KIAA0776

Gene ID: 23376 | Gene type: protein coding

About UFL1

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:96,521,806-96,555,276 (from NCBI)

This gene has 2 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in thyroid (RPKM 19.4), prostate (RPKM 15.2) and 25 other tissues.

Summary

Enables UFM1 ligase activity and protein kinase binding activity. Involved in several processes, including cellular protein modification process; regulation of signal transduction; and reticulophagy. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane; nucleus; and site of double-strand break. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

UFL1 Products(1)

mRNA	Protein	Name
NM_015323.5	NP_056138.1	E3 UFM1-protein ligase 1

UFL1 Protein Structure

E3_UFM1_ligase

0
200
400
600
794 a.a.

Protein Preferred Names

Protein Names

E3 UFM1-protein ligase 1

E3 UFM1-protein transferase 1

Related Diseases

Diseases

Alias

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

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

Meier-Gorlin Syndrome 8

MGORS8

Deafness, Autosomal Dominant 70

DFNA70	Autosomal Dominant Nonsyndromic Deafness 70
Autosomal Dominant Deafness 70	Deafness, Autosomal Dominant, 70

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

Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy

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

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15415	UFL1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UFL1	MGD	MGI:1914740
Rattus norvegicus	UFL1	RGD	RGD:1309308
Bos taurus	UFL1	VGNC	VGNC:36646
Canis familiaris	UFL1	VGNC	VGNC:48115
Macaca mulatta	UFL1	VGNC	VGNC:79370
Felis catus	UFL1	VGNC	VGNC:66803