UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1) - Rat Genome Database

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Gene: UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1) Homo sapiens
Analyze
Symbol: UAP1
Name: UDP-N-acetylglucosamine pyrophosphorylase 1
RGD ID: 1319461
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Localizes to cytosol; nucleoplasm; and plasma membrane; PARTICIPATES IN amino sugar metabolic pathway; french type sialuria pathway; sialic acid storage disease pathway; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 17beta-hydroxy-5alpha-androstan-3-one.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AGX; AGX1; AGX2; antigen X; SPAG2; sperm associated antigen 2; sperm-associated antigen 2; testis tissue sperm-binding protein Li 37a; UDP-N-acetylglucosamine diphosphorylase 1; UDP-N-acetylhexosamine pyrophosphorylase; UDP-N-acetylhexosamine pyrophosphorylase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100421523  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,561,506 - 162,599,842 (+)EnsemblGRCh38hg38GRCh38
GRCh381162,561,531 - 162,599,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,531,512 - 162,569,627 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,797,920 - 160,836,257 (+)NCBINCBI36hg18NCBI36
Build 341159,262,980 - 159,301,284NCBI
Celera1135,634,340 - 135,672,681 (+)NCBI
Cytogenetic Map1q23.3NCBI
HuRef1133,776,362 - 133,814,703 (+)NCBIHuRef
CHM1_11163,953,781 - 163,992,140 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA,ISO,TAS)
nucleoplasm  (IDA)
plasma membrane  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8025165   PMID:9603950   PMID:9621304   PMID:9765219   PMID:11707391   PMID:12477932   PMID:15489334   PMID:16710414   PMID:16712791   PMID:18029348   PMID:18976975   PMID:19322201  
PMID:19536175   PMID:21873635   PMID:22939629   PMID:25241896   PMID:25416956   PMID:26344197   PMID:26496610   PMID:28514442   PMID:28846114   PMID:30575818   PMID:31560077   PMID:31586073  
PMID:32296183   PMID:32650368  


Genomics

Comparative Map Data
UAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,561,506 - 162,599,842 (+)EnsemblGRCh38hg38GRCh38
GRCh381162,561,531 - 162,599,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,531,512 - 162,569,627 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,797,920 - 160,836,257 (+)NCBINCBI36hg18NCBI36
Build 341159,262,980 - 159,301,284NCBI
Celera1135,634,340 - 135,672,681 (+)NCBI
Cytogenetic Map1q23.3NCBI
HuRef1133,776,362 - 133,814,703 (+)NCBIHuRef
CHM1_11163,953,781 - 163,992,140 (+)NCBICHM1_1
Uap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,968,792 - 170,002,533 (-)NCBIGRCm39mm39
GRCm39 Ensembl1169,969,507 - 170,002,526 (-)Ensembl
GRCm381170,141,223 - 170,174,964 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,141,938 - 170,174,957 (-)EnsemblGRCm38mm10GRCm38
MGSCv371172,072,134 - 172,105,077 (-)NCBIGRCm37mm9NCBIm37
MGSCv361171,978,678 - 172,011,621 (-)NCBImm8
MGSCv361171,419,661 - 171,452,335 (-)NCBImm8
Celera1172,578,664 - 172,611,368 (-)NCBICelera
Cytogenetic Map1H3NCBI
Uap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21382,342,946 - 82,377,558 (-)NCBI
Rnor_6.0 Ensembl1388,463,532 - 88,497,901 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01388,463,532 - 88,497,901 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01393,089,458 - 93,123,827 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41385,953,072 - 85,987,137 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1382,003,544 - 82,038,040 (-)NCBICelera
Cytogenetic Map13q24NCBI
Uap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546213,760,693 - 13,800,417 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546213,765,197 - 13,799,937 (-)NCBIChiLan1.0ChiLan1.0
UAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11141,775,920 - 141,812,847 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1141,775,920 - 141,812,852 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01137,978,615 - 138,016,098 (+)NCBIMhudiblu_PPA_v0panPan3
UAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13820,190,026 - 20,228,353 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3820,190,375 - 20,277,923 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3820,245,175 - 20,283,509 (-)NCBI
ROS_Cfam_1.03820,272,574 - 20,310,917 (-)NCBI
UMICH_Zoey_3.13820,248,263 - 20,286,590 (-)NCBI
UNSW_CanFamBas_1.03820,599,616 - 20,637,942 (-)NCBI
UU_Cfam_GSD_1.03820,891,743 - 20,930,086 (-)NCBI
Uap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050588,417,178 - 8,454,607 (+)NCBI
SpeTri2.0NW_004936831733,072 - 770,495 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl487,955,938 - 87,993,973 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1487,960,056 - 87,994,032 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2495,738,941 - 95,772,915 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1201,489,372 - 1,527,767 (-)NCBI
ChlSab1.1 Ensembl201,488,506 - 1,527,699 (-)Ensembl
Vero_WHO_p1.0NW_023666038509,743 - 548,259 (-)NCBI
Uap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624826992,050 - 1,027,893 (+)NCBI

Position Markers
G42369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,561,725 - 162,561,875UniSTSGRCh37
Build 361160,828,349 - 160,828,499RGDNCBI36
Celera1135,664,773 - 135,664,923RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,806,795 - 133,806,945UniSTS
RH68601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,567,219 - 162,567,360UniSTSGRCh37
Build 361160,833,843 - 160,833,984RGDNCBI36
Celera1135,670,267 - 135,670,408RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,812,289 - 133,812,430UniSTS
GeneMap99-GB4 RH Map1592.58UniSTS
A009V08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,560,122 - 162,560,280UniSTSGRCh37
Build 361160,826,746 - 160,826,904RGDNCBI36
Celera1135,663,170 - 135,663,328RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,805,192 - 133,805,350UniSTS
GeneMap99-GB4 RH Map1592.38UniSTS
NCBI RH Map11446.5UniSTS
WI-13441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,569,462 - 162,569,611UniSTSGRCh37
Build 361160,836,086 - 160,836,235RGDNCBI36
Celera1135,672,510 - 135,672,659RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,814,532 - 133,814,681UniSTS
GeneMap99-GB4 RH Map1594.51UniSTS
Whitehead-RH Map1723.9UniSTS
NCBI RH Map11444.1UniSTS
G32869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,560,122 - 162,560,280UniSTSGRCh37
Celera1135,663,170 - 135,663,328UniSTS
Cytogenetic Map1q23.3UniSTS
HuRef1133,805,192 - 133,805,350UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:819
Count of miRNA genes:280
Interacting mature miRNAs:294
Transcripts:ENST00000271469, ENST00000367924, ENST00000367925, ENST00000367926, ENST00000474728, ENST00000476240, ENST00000486089
Prediction methods:Microtar, Miranda, Rnahybrid
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 1 3 1 1 1 1
Medium 2435 2190 1719 622 1283 463 4332 2054 2856 380 1456 1607 174 1 1203 2776 6 2
Low 3 796 7 2 660 2 24 142 878 39 3 6 1 12
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001324113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW136085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB125476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000271469   ⟹   ENSP00000271469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,561,506 - 162,599,842 (+)Ensembl
RefSeq Acc Id: ENST00000367924   ⟹   ENSP00000356901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,566,037 - 162,599,831 (+)Ensembl
RefSeq Acc Id: ENST00000367925   ⟹   ENSP00000356902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,566,037 - 162,599,831 (+)Ensembl
RefSeq Acc Id: ENST00000367926   ⟹   ENSP00000356903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,561,533 - 162,599,837 (+)Ensembl
RefSeq Acc Id: ENST00000474728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,581,431 - 162,588,105 (+)Ensembl
RefSeq Acc Id: ENST00000476240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,561,722 - 162,562,544 (+)Ensembl
RefSeq Acc Id: ENST00000486089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,597,241 - 162,599,799 (+)Ensembl
RefSeq Acc Id: NM_001324113   ⟹   NP_001311042
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,870 - 162,599,837 (+)NCBI
CHM1_11163,954,174 - 163,992,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324114   ⟹   NP_001311043
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,870 - 162,599,837 (+)NCBI
CHM1_11163,954,174 - 163,992,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324115   ⟹   NP_001311044
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,531 - 162,599,837 (+)NCBI
CHM1_11163,953,715 - 163,992,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324116   ⟹   NP_001311045
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,531 - 162,599,837 (+)NCBI
GRCh381162,561,722 - 162,599,837 (+)NCBI
CHM1_11163,953,715 - 163,992,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324117   ⟹   NP_001311046
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,531 - 162,599,837 (+)NCBI
CHM1_11163,953,715 - 163,992,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001388401   ⟹   NP_001375330
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,531 - 162,599,837 (+)NCBI
RefSeq Acc Id: NM_001388402   ⟹   NP_001375331
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,870 - 162,599,837 (+)NCBI
RefSeq Acc Id: NM_003115   ⟹   NP_003106
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,531 - 162,599,837 (+)NCBI
GRCh371162,531,296 - 162,570,379 (+)NCBI
Build 361160,797,920 - 160,836,257 (+)NCBI Archive
Celera1135,634,340 - 135,672,681 (+)RGD
HuRef1133,776,362 - 133,814,703 (+)ENTREZGENE
CHM1_11163,953,781 - 163,992,140 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003106   ⟸   NM_003115
- Peptide Label: isoform a
- UniProtKB: Q16222 (UniProtKB/Swiss-Prot),   A0A140VKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311044   ⟸   NM_001324115
- Peptide Label: isoform a
- UniProtKB: Q16222 (UniProtKB/Swiss-Prot),   A0A140VKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311045   ⟸   NM_001324116
- Peptide Label: isoform b
- UniProtKB: Q16222 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311046   ⟸   NM_001324117
- Peptide Label: isoform c
- UniProtKB: Q16222 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311042   ⟸   NM_001324113
- Peptide Label: isoform a
- UniProtKB: Q16222 (UniProtKB/Swiss-Prot),   A0A140VKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311043   ⟸   NM_001324114
- Peptide Label: isoform a
- UniProtKB: Q16222 (UniProtKB/Swiss-Prot),   A0A140VKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000271469   ⟸   ENST00000271469
RefSeq Acc Id: ENSP00000356901   ⟸   ENST00000367924
RefSeq Acc Id: ENSP00000356903   ⟸   ENST00000367926
RefSeq Acc Id: ENSP00000356902   ⟸   ENST00000367925
RefSeq Acc Id: NP_001375330   ⟸   NM_001388401
- Peptide Label: isoform b
RefSeq Acc Id: NP_001375331   ⟸   NM_001388402
- Peptide Label: isoform b

Promoters
RGD ID:6787105
Promoter ID:HG_KWN:5908
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:ENST00000271469,   NM_003115,   OTTHUMT00000083205,   OTTHUMT00000097647
Position:
Human AssemblyChrPosition (strand)Source
Build 361160,797,091 - 160,798,252 (+)MPROMDB
RGD ID:6857934
Promoter ID:EPDNEW_H2132
Type:initiation region
Name:UAP1_2
Description:UDP-N-acetylglucosamine pyrophosphorylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2133  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,531 - 162,561,591EPDNEW
RGD ID:6857936
Promoter ID:EPDNEW_H2133
Type:multiple initiation site
Name:UAP1_1
Description:UDP-N-acetylglucosamine pyrophosphorylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2132  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,561,722 - 162,561,782EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 copy number loss See cases [RCV000053915] Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
NM_003115.4(UAP1):c.1045T>A (p.Leu349Met) single nucleotide variant Malignant melanoma [RCV000059970] Chr1:162588709 [GRCh38]
Chr1:162558499 [GRCh37]
Chr1:160825123 [NCBI36]
Chr1:1q23.3
not provided
NM_003115.4(UAP1):c.1359-1021G>C single nucleotide variant Lung cancer [RCV000089853] Chr1:162596771 [GRCh38]
Chr1:162566561 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.3(chr1:162315980-162997340)x3 copy number gain not provided [RCV000684669] Chr1:162315980..162997340 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
NM_001324116.1(UAP1):c.975G>A (p.Ala325=) single nucleotide variant not provided [RCV000946517] Chr1:162587615 [GRCh38]
Chr1:162557405 [GRCh37]
Chr1:1q23.3
benign
NM_001324116.1(UAP1):c.1486A>G (p.Ser496Gly) single nucleotide variant not provided [RCV000948229] Chr1:162599280 [GRCh38]
Chr1:162569070 [GRCh37]
Chr1:1q23.3
benign
NM_001324116.1(UAP1):c.1266G>A (p.Arg422=) single nucleotide variant not provided [RCV000965571] Chr1:162590419 [GRCh38]
Chr1:162560209 [GRCh37]
Chr1:1q23.3
benign
NM_001324116.1(UAP1):c.1171A>C (p.Lys391Gln) single nucleotide variant not provided [RCV000952460] Chr1:162590324 [GRCh38]
Chr1:162560114 [GRCh37]
Chr1:1q23.3
benign
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
NM_001324116.1(UAP1):c.485+9C>T single nucleotide variant not provided [RCV000952459] Chr1:162576990 [GRCh38]
Chr1:162546780 [GRCh37]
Chr1:1q23.3
benign
NM_001324116.1(UAP1):c.1182A>G (p.Val394=) single nucleotide variant not provided [RCV000911642] Chr1:162590335 [GRCh38]
Chr1:162560125 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1q23.3(chr1:162536242-163169281)x3 copy number gain not provided [RCV001258477] Chr1:162536242..163169281 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12457 AgrOrtholog
COSMIC UAP1 COSMIC
Ensembl Genes ENSG00000117143 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000271469 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356901 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356902 UniProtKB/Swiss-Prot
  ENSP00000356903 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000271469 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367924 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367925 UniProtKB/Swiss-Prot
  ENST00000367926 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117143 GTEx
HGNC ID HGNC:12457 ENTREZGENE
Human Proteome Map UAP1 Human Proteome Map
InterPro Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDP-sugar_pyrophosphorylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDPGP_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6675 UniProtKB/Swiss-Prot
NCBI Gene 6675 ENTREZGENE
OMIM 602862 OMIM
PANTHER PTHR11952 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UDPGP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37107 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VKC0 ENTREZGENE, UniProtKB/TrEMBL
  Q16222 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R6R8 UniProtKB/Swiss-Prot
  Q5VTA9 UniProtKB/Swiss-Prot
  Q5VTB0 UniProtKB/Swiss-Prot
  Q5VTB1 UniProtKB/Swiss-Prot
  Q96GM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-08-06 UAP1  UDP-N-acetylglucosamine pyrophosphorylase 1    UDP-N-acteylglucosamine pyrophosphorylase 1  Symbol and/or name change 5135510 APPROVED