HAGH (hydroxyacylglutathione hydrolase) - Rat Genome Database

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Gene: HAGH (hydroxyacylglutathione hydrolase) Homo sapiens
Analyze
Symbol: HAGH
Name: hydroxyacylglutathione hydrolase
RGD ID: 736814
HGNC Page HGNC
Description: Enables hydroxyacylglutathione hydrolase activity. Involved in glutathione biosynthetic process. Located in mitochondrial matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GLO2; glx II; GLX2; GLXII; glyoxalase II; HAGH1; hydroxyacyl glutathione hydrolase; hydroxyacylglutathione hydrolase, mitochondrial; hydroxyacylglutathione hydroxylase
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
GRCh38161,807,629 - 1,827,194 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl161,795,620 - 1,827,157 (-)EnsemblGRCh38hg38GRCh38
GRCh37161,857,630 - 1,877,195 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,799,105 - 1,817,196 (-)NCBINCBI36hg18NCBI36
Build 34161,799,105 - 1,817,163NCBI
Celera162,071,349 - 2,089,441 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef161,781,967 - 1,800,219 (-)NCBIHuRef
CHM1_1161,859,060 - 1,877,163 (-)NCBICHM1_1
T2T-CHM13v2.0161,823,468 - 1,843,048 (-)NCBI
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
cytoplasm  (IDA,IEA)
cytosol  (TAS)
mitochondrial matrix  (IDA,IEA)
mitochondrion  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)
References

Additional References at PubMed
PMID:1192606   PMID:1459997   PMID:2164460   PMID:3025077   PMID:3382669   PMID:3663711   PMID:6463589   PMID:7327557   PMID:7585456   PMID:8550579   PMID:8889548   PMID:10508780  
PMID:11157797   PMID:11368412   PMID:12012344   PMID:12204678   PMID:12477932   PMID:15117945   PMID:15489334   PMID:15616553   PMID:16289162   PMID:16803681   PMID:16831876   PMID:18344682  
PMID:19413286   PMID:20237496   PMID:20877624   PMID:21044950   PMID:21653829   PMID:21832049   PMID:21873635   PMID:21988832   PMID:23376485   PMID:23824909   PMID:24671236   PMID:25645869  
PMID:26344197   PMID:26552067   PMID:26914966   PMID:27696457   PMID:27935136   PMID:28330616   PMID:28515276   PMID:29128334   PMID:29180619   PMID:29385039   PMID:29568061   PMID:29950256  
PMID:30455355   PMID:30862715   PMID:31091453   PMID:31586073   PMID:31950832   PMID:32296183   PMID:32427856   PMID:33001583   PMID:33545068   PMID:33725370   PMID:33961781   PMID:34709727  
PMID:35140242  


Genomics

Comparative Map Data
HAGH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,807,629 - 1,827,194 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl161,795,620 - 1,827,157 (-)EnsemblGRCh38hg38GRCh38
GRCh37161,857,630 - 1,877,195 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,799,105 - 1,817,196 (-)NCBINCBI36hg18NCBI36
Build 34161,799,105 - 1,817,163NCBI
Celera162,071,349 - 2,089,441 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef161,781,967 - 1,800,219 (-)NCBIHuRef
CHM1_1161,859,060 - 1,877,163 (-)NCBICHM1_1
T2T-CHM13v2.0161,823,468 - 1,843,048 (-)NCBI
Hagh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,056,863 - 25,083,424 (+)NCBIGRCm39mm39
GRCm39 Ensembl1725,059,117 - 25,083,424 (+)Ensembl
GRCm381724,839,781 - 24,864,450 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,840,143 - 24,864,450 (+)EnsemblGRCm38mm10GRCm38
MGSCv371724,987,435 - 25,001,395 (+)NCBIGRCm37mm9NCBIm37
MGSCv361724,578,147 - 24,592,050 (+)NCBImm8
Celera1725,377,454 - 25,391,223 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Hagh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21013,874,883 - 13,889,527 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1013,875,241 - 13,889,504 (+)Ensembl
Rnor_6.01014,215,913 - 14,230,506 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,216,155 - 14,230,515 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,032,006 - 14,046,521 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,106,047 - 14,117,459 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11014,106,046 - 14,117,459 (+)NCBI
Celera1013,554,443 - 13,568,735 (+)NCBICelera
Cytogenetic Map10q12NCBI
Hagh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,451,910 - 15,465,211 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,451,910 - 15,465,211 (+)NCBIChiLan1.0ChiLan1.0
HAGH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1161,864,372 - 1,865,276 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v016431,417 - 455,211 (-)NCBIMhudiblu_PPA_v0panPan3
HAGH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,076,364 - 39,105,646 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,084,513 - 39,105,592 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,323,559 - 40,344,553 (+)NCBI
ROS_Cfam_1.0639,400,917 - 39,422,090 (+)NCBI
ROS_Cfam_1.0 Ensembl639,375,311 - 39,422,080 (+)Ensembl
UMICH_Zoey_3.1639,077,630 - 39,098,788 (+)NCBI
UNSW_CanFamBas_1.0639,050,207 - 39,071,366 (+)NCBI
UU_Cfam_GSD_1.0639,528,902 - 39,549,839 (+)NCBI
Hagh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,510,713 - 104,528,007 (-)NCBI
SpeTri2.0NW_0049366942,181,475 - 2,200,469 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAGH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1340,139,099 - 40,162,921 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HAGH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,705,436 - 1,730,896 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl51,713,542 - 1,730,797 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606829,352,945 - 29,370,176 (+)NCBIVero_WHO_p1.0
Hagh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913434,537 - 446,061 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624913426,554 - 446,061 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH78672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,859,259 - 1,859,381UniSTSGRCh37
Build 36161,799,260 - 1,799,382RGDNCBI36
Celera162,071,504 - 2,071,626RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,782,122 - 1,782,244UniSTS
GeneMap99-GB4 RH Map1625.6UniSTS
RH79938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,859,155 - 1,859,273UniSTSGRCh37
Build 36161,799,156 - 1,799,274RGDNCBI36
Celera162,071,400 - 2,071,518RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,782,018 - 1,782,136UniSTS
GeneMap99-GB4 RH Map1626.03UniSTS
RH36497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,871,999 - 1,872,134UniSTSGRCh37
Build 36161,812,000 - 1,812,135RGDNCBI36
Celera162,084,244 - 2,084,379RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,795,050 - 1,795,185UniSTS
GeneMap99-GB4 RH Map1665.25UniSTS
RH66746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,860,262 - 1,860,413UniSTSGRCh37
Build 36161,800,263 - 1,800,414RGDNCBI36
Celera162,072,509 - 2,072,660RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,783,127 - 1,783,278UniSTS
GeneMap99-GB4 RH Map1645.91UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3399
Count of miRNA genes:918
Interacting mature miRNAs:1132
Transcripts:ENST00000397353, ENST00000397356, ENST00000455446, ENST00000564445, ENST00000564518, ENST00000565097, ENST00000566644, ENST00000566709, ENST00000567190, ENST00000567398, ENST00000569339, ENST00000569700
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 2357 2880 1713 601 1523 461 4162 2090 3525 396 1352 1577 154 1 1153 2739 5 2
Low 82 111 13 23 426 4 195 107 209 23 108 36 21 51 49 1
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY576804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG703401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM982247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU176541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB502986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X90999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000397353   ⟹   ENSP00000380511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,809,103 - 1,826,841 (-)Ensembl
RefSeq Acc Id: ENST00000397356   ⟹   ENSP00000380514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,807,629 - 1,826,825 (-)Ensembl
RefSeq Acc Id: ENST00000455446   ⟹   ENSP00000406552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,808,872 - 1,826,834 (-)Ensembl
RefSeq Acc Id: ENST00000564445   ⟹   ENSP00000455355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,795,620 - 1,822,904 (-)Ensembl
RefSeq Acc Id: ENST00000564518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,819,836 - 1,826,807 (-)Ensembl
RefSeq Acc Id: ENST00000565097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,821,512 - 1,826,832 (-)Ensembl
RefSeq Acc Id: ENST00000566644   ⟹   ENSP00000457986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,807,577 - 1,816,907 (-)Ensembl
RefSeq Acc Id: ENST00000566709   ⟹   ENSP00000455422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,809,124 - 1,827,157 (-)Ensembl
RefSeq Acc Id: ENST00000567190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,819,835 - 1,826,560 (-)Ensembl
RefSeq Acc Id: ENST00000567398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,809,105 - 1,812,419 (-)Ensembl
RefSeq Acc Id: ENST00000569339   ⟹   ENSP00000455970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,817,189 - 1,826,778 (-)Ensembl
RefSeq Acc Id: ENST00000569700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl161,818,515 - 1,826,802 (-)Ensembl
RefSeq Acc Id: NM_001040427   ⟹   NP_001035517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,809,098 - 1,827,194 (-)NCBI
GRCh37161,859,104 - 1,877,195 (-)ENTREZGENE
GRCh37161,859,104 - 1,877,195 (-)NCBI
Build 36161,799,105 - 1,817,196 (-)NCBI Archive
HuRef161,781,967 - 1,800,219 (-)ENTREZGENE
CHM1_1161,859,060 - 1,877,163 (-)NCBI
T2T-CHM13v2.0161,824,938 - 1,843,048 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286249   ⟹   NP_001273178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,809,098 - 1,827,194 (-)NCBI
HuRef161,781,967 - 1,800,219 (-)NCBI
CHM1_1161,859,060 - 1,877,163 (-)NCBI
T2T-CHM13v2.0161,824,938 - 1,843,048 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363912   ⟹   NP_001350841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,809,098 - 1,827,194 (-)NCBI
T2T-CHM13v2.0161,824,938 - 1,843,048 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363914   ⟹   NP_001350843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,809,098 - 1,827,194 (-)NCBI
T2T-CHM13v2.0161,824,938 - 1,843,048 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005326   ⟹   NP_005317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,807,629 - 1,826,825 (-)NCBI
GRCh37161,859,104 - 1,877,195 (-)ENTREZGENE
GRCh37161,859,104 - 1,877,195 (-)NCBI
Build 36161,799,105 - 1,817,196 (-)NCBI Archive
HuRef161,781,967 - 1,800,219 (-)ENTREZGENE
CHM1_1161,859,060 - 1,877,163 (-)NCBI
T2T-CHM13v2.0161,823,468 - 1,842,679 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522470   ⟹   XP_011520772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,809,098 - 1,827,194 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001035517   ⟸   NM_001040427
- Peptide Label: isoform 2
- UniProtKB: Q16775 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005317   ⟸   NM_005326
- Peptide Label: isoform 1 precursor
- UniProtKB: Q16775 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273178   ⟸   NM_001286249
- Peptide Label: isoform 3 precursor
- UniProtKB: Q16775 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520772   ⟸   XM_011522470
- Peptide Label: isoform X1
- UniProtKB: Q16775 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350841   ⟸   NM_001363912
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001350843   ⟸   NM_001363914
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000406552   ⟸   ENST00000455446
RefSeq Acc Id: ENSP00000455355   ⟸   ENST00000564445
RefSeq Acc Id: ENSP00000457986   ⟸   ENST00000566644
RefSeq Acc Id: ENSP00000455422   ⟸   ENST00000566709
RefSeq Acc Id: ENSP00000380514   ⟸   ENST00000397356
RefSeq Acc Id: ENSP00000380511   ⟸   ENST00000397353
RefSeq Acc Id: ENSP00000455970   ⟸   ENST00000569339
Protein Domains
HAGH_C   Lactamase_B

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16775-F1-model_v2 AlphaFold Q16775 1-308 view protein structure

Promoters
RGD ID:6793171
Promoter ID:HG_KWN:22732
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001040427,   NM_005326,   UC002CNB.1,   UC010BRY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,816,704 - 1,817,204 (-)MPROMDB
RGD ID:6852394
Promoter ID:EP74005
Type:initiation region
Name:HS_HAGH
Description:Hydroxyacyl glutathione hydrolase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,816,837 - 1,816,897EPD
RGD ID:7230947
Promoter ID:EPDNEW_H21219
Type:initiation region
Name:HAGH_1
Description:hydroxyacylglutathione hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21221  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,826,802 - 1,826,862EPDNEW
RGD ID:7230951
Promoter ID:EPDNEW_H21221
Type:initiation region
Name:HAGH_2
Description:hydroxyacylglutathione hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21219  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,827,170 - 1,827,230EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3 copy number gain See cases [RCV000052377] Chr16:1816283..2020966 [GRCh38]
Chr16:1866284..2070967 [GRCh37]
Chr16:1806285..2010968 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1 copy number loss See cases [RCV000141133] Chr16:1754785..1816283 [GRCh38]
Chr16:1804786..1866284 [GRCh37]
Chr16:1744787..1806285 [NCBI36]
Chr16:16p13.3
benign
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3 copy number gain See cases [RCV000240428] Chr16:1860861..2070554 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3
benign
NC_000016.10:g.(?_1523498)_(2064447_?)del deletion Tuberous sclerosis 2 [RCV001032344] Chr16:1573499..2114448 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3 copy number gain not provided [RCV000845877] Chr16:1727095..1947413 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3
pathogenic
Single allele inversion Hereditary cancer-predisposing syndrome [RCV000850149] Chr16:1566500..2119769 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4805 AgrOrtholog
COSMIC HAGH COSMIC
Ensembl Genes ENSG00000063854 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000380511 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380514 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000455355 UniProtKB/TrEMBL
  ENSP00000455422 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000455970 UniProtKB/TrEMBL
  ENSP00000457986 UniProtKB/TrEMBL
Ensembl Transcript ENST00000397353 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397356 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455446 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000564445 UniProtKB/TrEMBL
  ENST00000566644 UniProtKB/TrEMBL
  ENST00000566709 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000569339 UniProtKB/TrEMBL
Gene3D-CATH 3.60.15.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000063854 GTEx
HGNC ID HGNC:4805 ENTREZGENE
Human Proteome Map HAGH Human Proteome Map
InterPro Clx_II_MBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAGH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydroxyacylglutathione_Hdrlase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-B-lactamas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RibonucZ/Hydroxyglut_hydro UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3029 UniProtKB/Swiss-Prot
NCBI Gene 3029 ENTREZGENE
OMIM 138760 OMIM
  614033 OMIM
Pfam HAGH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactamase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29179 PharmGKB
PIRSF Glx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Lactamase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs GSH_gloB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GLO2_HUMAN UniProtKB/Swiss-Prot
  H3BPK3_HUMAN UniProtKB/TrEMBL
  H3BPQ4_HUMAN UniProtKB/TrEMBL
  H3BQW8_HUMAN UniProtKB/TrEMBL
  H3BV79_HUMAN UniProtKB/TrEMBL
  Q16775 ENTREZGENE
UniProt Secondary A8K290 UniProtKB/Swiss-Prot
  B4DP33 UniProtKB/Swiss-Prot
  B4DRA7 UniProtKB/Swiss-Prot
  E7EN93 UniProtKB/Swiss-Prot