UFL1 (UFM1 specific ligase 1) - Rat Genome Database

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Gene: UFL1 (UFM1 specific ligase 1) Homo sapiens
Analyze
Symbol: UFL1
Name: UFM1 specific ligase 1
RGD ID: 1319587
HGNC Page HGNC
Description: 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; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-hydroxypropanoic acid; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: E3 UFM1-protein ligase 1; E3 UFM1-protein transferase 1; KIAA0776; LZAP-binding protein; Maxer; multiple alpha-helix protein located at ER; NLBP; novel LZAP-binding protein; RCAD; regulator of C53/LZAP and DDRGK1; Regulator of CDK5RAP3 and DDRGK1; RP3-393D12.1; UFM1-specific ligase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl696,521,595 - 96,555,276 (+)EnsemblGRCh38hg38GRCh38
GRCh38696,521,806 - 96,555,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37696,969,682 - 97,003,152 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36697,076,438 - 97,109,873 (+)NCBINCBI36hg18NCBI36
Build 34697,076,437 - 97,109,873NCBI
Celera697,611,468 - 97,644,919 (+)NCBI
Cytogenetic Map6q16.1NCBI
HuRef694,403,930 - 94,437,341 (+)NCBIHuRef
CHM1_1697,231,702 - 97,265,153 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9872452   PMID:12477932   PMID:14574404   PMID:15302935   PMID:15342556   PMID:15489334   PMID:16210410   PMID:17081983   PMID:17353931   PMID:18029348   PMID:20018847   PMID:20164180  
PMID:20228063   PMID:20531390   PMID:21873635   PMID:23152784   PMID:23839039   PMID:24711643   PMID:24778252   PMID:24797263   PMID:25192599   PMID:25219498   PMID:25609649   PMID:25659154  
PMID:25921289   PMID:26186194   PMID:26511642   PMID:26638075   PMID:26693507   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28700943   PMID:29509190   PMID:29568061   PMID:30021884  
PMID:30463901   PMID:30471916   PMID:30833792   PMID:30886146   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31527615   PMID:32050156   PMID:32160526   PMID:32296183  
PMID:32416067   PMID:32545848   PMID:32694731   PMID:32807901   PMID:32877691   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
UFL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl696,521,595 - 96,555,276 (+)EnsemblGRCh38hg38GRCh38
GRCh38696,521,806 - 96,555,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37696,969,682 - 97,003,152 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36697,076,438 - 97,109,873 (+)NCBINCBI36hg18NCBI36
Build 34697,076,437 - 97,109,873NCBI
Celera697,611,468 - 97,644,919 (+)NCBI
Cytogenetic Map6q16.1NCBI
HuRef694,403,930 - 94,437,341 (+)NCBIHuRef
CHM1_1697,231,702 - 97,265,153 (+)NCBICHM1_1
Ufl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39425,247,149 - 25,281,821 (-)NCBIGRCm39mm39
GRCm39 Ensembl425,248,600 - 25,281,821 (-)Ensembl
GRCm38425,247,149 - 25,281,821 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl425,248,600 - 25,281,821 (-)EnsemblGRCm38mm10GRCm38
MGSCv37425,175,733 - 25,208,968 (-)NCBIGRCm37mm9NCBIm37
MGSCv36425,340,780 - 25,372,395 (-)NCBImm8
Celera424,983,514 - 25,016,784 (-)NCBICelera
Cytogenetic Map4A3NCBI
Ufl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2538,962,721 - 38,995,134 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl539,615,956 - 39,650,895 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0539,616,479 - 39,650,894 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0544,244,327 - 44,277,549 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4540,307,712 - 40,340,062 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1540,307,893 - 40,340,241 (-)NCBI
Celera537,888,662 - 37,920,107 (-)NCBICelera
Cytogenetic Map5q21NCBI
Ufl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541122,548,219 - 22,580,903 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541122,548,139 - 22,577,287 (+)NCBIChiLan1.0ChiLan1.0
UFL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1698,242,689 - 98,276,146 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl698,242,756 - 98,274,377 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0694,356,440 - 94,389,920 (+)NCBIMhudiblu_PPA_v0panPan3
UFL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11254,988,200 - 55,023,414 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1254,988,264 - 55,021,626 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1254,804,603 - 54,837,183 (+)NCBI
ROS_Cfam_1.01255,807,531 - 55,840,491 (+)NCBI
UMICH_Zoey_3.11255,142,814 - 55,175,742 (+)NCBI
UNSW_CanFamBas_1.01255,004,468 - 55,036,715 (+)NCBI
UU_Cfam_GSD_1.01255,251,683 - 55,284,623 (+)NCBI
Ufl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494689,564,693 - 89,598,140 (+)NCBI
SpeTri2.0NW_0049366991,131,385 - 1,163,310 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UFL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl163,638,592 - 63,700,481 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1163,638,589 - 63,698,931 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2172,007,561 - 72,067,762 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UFL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11377,357,239 - 77,387,385 (-)NCBI
ChlSab1.1 Ensembl1377,357,141 - 77,387,367 (-)Ensembl
Vero_WHO_p1.0NW_02366604049,653,195 - 49,682,283 (-)NCBI
Ufl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248108,804,330 - 8,832,460 (-)NCBI

Position Markers
RH78851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37697,002,978 - 97,003,111UniSTSGRCh37
Build 36697,109,699 - 97,109,832RGDNCBI36
Celera697,644,745 - 97,644,878RGD
Cytogenetic Map6q16.1UniSTS
HuRef694,437,167 - 94,437,300UniSTS
GeneMap99-GB4 RH Map6428.71UniSTS
SHGC-36141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37697,002,990 - 97,003,114UniSTSGRCh37
Build 36697,109,711 - 97,109,835RGDNCBI36
Celera697,644,757 - 97,644,881RGD
Cytogenetic Map6q16.1UniSTS
HuRef694,437,179 - 94,437,303UniSTS
RH98509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37696,969,705 - 96,970,764UniSTSGRCh37
Celera697,611,471 - 97,612,530UniSTS
Cytogenetic Map6q16.1UniSTS
HuRef694,403,933 - 94,404,992UniSTS
GeneMap99-GB4 RH Map6427.32UniSTS
RH70749  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q16.1UniSTS
HuRef694,437,173 - 94,437,299UniSTS
GeneMap99-GB4 RH Map6427.11UniSTS
NCBI RH Map61356.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:615
Count of miRNA genes:425
Interacting mature miRNAs:468
Transcripts:ENST00000369278, ENST00000461673
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2269 1725 1551 485 1150 327 4177 1742 2213 316 1395 1580 174 1 1133 2661 6 2
Low 170 1190 175 139 727 138 180 453 1521 103 65 33 1 71 127
Below cutoff 76 74 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369278   ⟹   ENSP00000358283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl696,521,806 - 96,555,276 (+)Ensembl
RefSeq Acc Id: ENST00000461673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl696,521,595 - 96,522,964 (+)Ensembl
RefSeq Acc Id: NM_015323   ⟹   NP_056138
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38696,521,806 - 96,555,276 (+)NCBI
GRCh37696,969,702 - 97,003,152 (+)RGD
Build 36697,076,438 - 97,109,873 (+)NCBI Archive
Celera697,611,468 - 97,644,919 (+)RGD
HuRef694,403,930 - 94,437,341 (+)ENTREZGENE
CHM1_1697,231,702 - 97,265,153 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056138   ⟸   NM_015323
- UniProtKB: O94874 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000358283   ⟸   ENST00000369278

Promoters
RGD ID:7208731
Promoter ID:EPDNEW_H10111
Type:initiation region
Name:UFL1_1
Description:UFM1 specific ligase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38696,521,839 - 96,521,899EPDNEW
RGD ID:6804394
Promoter ID:HG_KWN:54397
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000041557,   OTTHUMT00000041558,   UC010KCK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36697,075,631 - 97,076,527 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
NM_015323.5(UFL1):c.2114C>G (p.Pro705Arg) single nucleotide variant Hereditary breast and ovarian cancer syndrome [RCV001374492] Chr6:96552610 [GRCh38]
Chr6:97000486 [GRCh37]
Chr6:6q16.1
uncertain significance
GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)x1 copy number loss See cases [RCV000446720] Chr6:92576950..104658245 [GRCh37]
Chr6:6q15-16.3
pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21
pathogenic
GRCh37/hg19 6q16.1(chr6:96930503-97358358)x3 copy number gain not provided [RCV000682697] Chr6:96930503..97358358 [GRCh37]
Chr6:6q16.1
uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1
pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
GRCh37/hg19 6q16.1(chr6:96707644-97112587)x1 copy number loss not provided [RCV000682695] Chr6:96707644..97112587 [GRCh37]
Chr6:6q16.1
uncertain significance
GRCh37/hg19 6q16.1(chr6:96890317-97173081)x1 copy number loss not provided [RCV000682696] Chr6:96890317..97173081 [GRCh37]
Chr6:6q16.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_015323.5(UFL1):c.1496C>T (p.Ser499Leu) single nucleotide variant not provided [RCV000885158] Chr6:96548257 [GRCh38]
Chr6:96996133 [GRCh37]
Chr6:6q16.1
benign
NM_015323.5(UFL1):c.1993C>G (p.Leu665Val) single nucleotide variant not provided [RCV000885253] Chr6:96552489 [GRCh38]
Chr6:97000365 [GRCh37]
Chr6:6q16.1
benign
GRCh37/hg19 6q16.1(chr6:96925561-97358357)x3 copy number gain not provided [RCV000846189] Chr6:96925561..97358357 [GRCh37]
Chr6:6q16.1
uncertain significance
NM_015323.5(UFL1):c.1497G>A (p.Ser499=) single nucleotide variant not provided [RCV000911296] Chr6:96548258 [GRCh38]
Chr6:96996134 [GRCh37]
Chr6:6q16.1
benign
GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1 copy number loss Microcephaly [RCV001251052] Chr6:96028232..97247130 [GRCh37]
Chr6:6q16.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23039 AgrOrtholog
COSMIC UFL1 COSMIC
Ensembl Genes ENSG00000014123 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000358283 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369278 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000014123 GTEx
HGNC ID HGNC:23039 ENTREZGENE
Human Proteome Map UFL1 Human Proteome Map
InterPro E3_UFM1_ligase_1 UniProtKB/Swiss-Prot
KEGG Report hsa:23376 UniProtKB/Swiss-Prot
NCBI Gene 23376 ENTREZGENE
OMIM 613372 OMIM
PANTHER PTHR31057 UniProtKB/Swiss-Prot
Pfam E3_UFM1_ligase UniProtKB/Swiss-Prot
PharmGKB PA134937763 PharmGKB
UniProt O94874 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0PJ53 UniProtKB/Swiss-Prot
  B4DJ57 UniProtKB/Swiss-Prot
  C0H5X5 UniProtKB/Swiss-Prot
  Q8N765 UniProtKB/Swiss-Prot
  Q9NTQ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 UFL1  UFM1 specific ligase 1    UFM1-specific ligase 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 UFL1  UFM1-specific ligase 1  KIAA0776  KIAA0776  Symbol and/or name change 5135510 APPROVED