BLMH (bleomycin hydrolase) - Rat Genome Database

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Gene: BLMH (bleomycin hydrolase) Homo sapiens
Analyze
Symbol: BLMH
Name: bleomycin hydrolase
RGD ID: 1312244
HGNC Page HGNC:1059
Description: Enables aminopeptidase activity and identical protein binding activity. Predicted to be involved in homocysteine catabolic process and response to toxic substance. Predicted to act upstream of or within response to xenobiotic stimulus. Located in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BH; BLM hydrolase; BMH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381730,248,203 - 30,291,944 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1730,248,203 - 30,292,056 (-)EnsemblGRCh38hg38GRCh38
GRCh371728,575,221 - 28,618,962 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361725,599,349 - 25,643,200 (-)NCBINCBI36Build 36hg18NCBI36
Build 341725,599,348 - 25,643,200NCBI
Celera1725,436,850 - 25,480,700 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1724,785,419 - 24,829,363 (-)NCBIHuRef
CHM1_11728,637,660 - 28,681,631 (-)NCBICHM1_1
T2T-CHM13v2.01731,192,754 - 31,236,495 (-)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA,TAS)
cytosol  (TAS)
extracellular exosome  (HDA)
nucleus  (HDA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The Bmi-1 oncoprotein is overexpressed in human colorectal cancer and correlates with the reduced p16INK4a/p14ARF proteins. Kim JH, etal., Cancer Lett. 2004 Jan 20;203(2):217-24.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. BMI-1 is highly expressed in M0-subtype acute myeloid leukemia. Sawa M, etal., Int J Hematol. 2005 Jul;82(1):42-7.
Additional References at PubMed
PMID:8125298   PMID:8620487   PMID:8639621   PMID:9331073   PMID:9407121   PMID:9485374   PMID:9500538   PMID:9546396   PMID:9668046   PMID:9855622   PMID:10335922   PMID:10353821  
PMID:10404591   PMID:10686410   PMID:10973933   PMID:11062501   PMID:11099722   PMID:11350084   PMID:11436125   PMID:12082022   PMID:12477932   PMID:12604387   PMID:14702039   PMID:15489334  
PMID:15900213   PMID:16169070   PMID:16189514   PMID:17854420   PMID:18029348   PMID:18082847   PMID:18398146   PMID:19056867   PMID:19615732   PMID:20198498   PMID:20360068   PMID:21145461  
PMID:21163940   PMID:21190945   PMID:21310951   PMID:21630459   PMID:21873635   PMID:21900206   PMID:21943823   PMID:22037625   PMID:22863883   PMID:23376485   PMID:23708668   PMID:24496069  
PMID:24615029   PMID:24657165   PMID:24711643   PMID:24981860   PMID:25240784   PMID:25416956   PMID:25476789   PMID:25910212   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26618866   PMID:27107014   PMID:27327270   PMID:27512140   PMID:27591049   PMID:27878232   PMID:27880917   PMID:28514442   PMID:28973437   PMID:29117863   PMID:29229926   PMID:29298432  
PMID:29467282   PMID:29507755   PMID:29563501   PMID:29884807   PMID:30442662   PMID:30639242   PMID:30884312   PMID:30948266   PMID:31180492   PMID:31409639   PMID:31478661   PMID:31515488  
PMID:31586073   PMID:31875550   PMID:31892708   PMID:32296183   PMID:32687490   PMID:32814053   PMID:32941674   PMID:32989256   PMID:33567341   PMID:33729478   PMID:33961781   PMID:34189442  
PMID:34445801   PMID:34795231   PMID:34825085   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35474131   PMID:35545034   PMID:35568845   PMID:35831314   PMID:35864588   PMID:35944360  
PMID:36114006   PMID:36215168   PMID:36574265   PMID:36898370   PMID:37249651   PMID:37827155  


Genomics

Comparative Map Data
BLMH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381730,248,203 - 30,291,944 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1730,248,203 - 30,292,056 (-)EnsemblGRCh38hg38GRCh38
GRCh371728,575,221 - 28,618,962 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361725,599,349 - 25,643,200 (-)NCBINCBI36Build 36hg18NCBI36
Build 341725,599,348 - 25,643,200NCBI
Celera1725,436,850 - 25,480,700 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1724,785,419 - 24,829,363 (-)NCBIHuRef
CHM1_11728,637,660 - 28,681,631 (-)NCBICHM1_1
T2T-CHM13v2.01731,192,754 - 31,236,495 (-)NCBIT2T-CHM13v2.0
Blmh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391176,836,482 - 76,878,215 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1176,815,635 - 76,878,205 (+)EnsemblGRCm39 Ensembl
GRCm381176,945,656 - 76,987,389 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1176,924,809 - 76,987,379 (+)EnsemblGRCm38mm10GRCm38
MGSCv371176,759,158 - 76,800,891 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361176,761,953 - 76,803,571 (+)NCBIMGSCv36mm8
Celera1184,444,123 - 84,485,800 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.16NCBI
Blmh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81062,270,170 - 62,313,349 (+)NCBIGRCr8
mRatBN7.21061,772,112 - 61,815,212 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1061,758,478 - 61,815,212 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1066,417,953 - 66,461,028 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01065,923,429 - 65,966,505 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01061,393,522 - 61,436,607 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01063,197,367 - 63,240,447 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1063,197,364 - 63,240,332 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01062,896,489 - 62,939,897 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41067,195,276 - 67,238,359 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11067,208,898 - 67,251,929 (-)NCBI
Celera1060,779,382 - 60,822,405 (+)NCBICelera
Cytogenetic Map10q24NCBI
Blmh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554813,031,114 - 3,078,678 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554813,031,283 - 3,078,678 (+)NCBIChiLan1.0ChiLan1.0
BLMH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21934,157,250 - 34,201,170 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11736,037,952 - 36,081,750 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01726,476,039 - 26,519,782 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11726,994,714 - 27,038,131 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1726,993,361 - 27,038,131 (+)Ensemblpanpan1.1panPan2
BLMH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1944,271,662 - 44,319,814 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl944,272,385 - 44,319,769 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha943,423,819 - 43,471,312 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0945,090,438 - 45,137,925 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl945,089,735 - 45,137,892 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1943,871,246 - 43,918,711 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0944,158,070 - 44,205,301 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0944,242,563 - 44,290,059 (-)NCBIUU_Cfam_GSD_1.0
Blmh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560243,374,061 - 43,420,308 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365386,250,575 - 6,298,373 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365386,251,602 - 6,298,281 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLMH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1246,342,503 - 46,393,484 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11246,342,502 - 46,393,642 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21248,149,958 - 48,173,257 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BLMH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11623,980,736 - 24,026,126 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1623,980,712 - 24,025,976 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660756,039,024 - 6,085,399 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Blmh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247862,720,383 - 2,761,968 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247862,721,314 - 2,761,792 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BLMH
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000386.4(BLMH):c.1327A>G (p.Ile443Val) single nucleotide variant BLEOMYCIN HYDROLASE POLYMORPHISM [RCV000007670]|not provided [RCV004709195] Chr17:30249058 [GRCh38]
Chr17:28576076 [GRCh37]
Chr17:17q11.2		 benign
NM_000386.3(BLMH):c.321+16G>T single nucleotide variant Lung cancer [RCV000100408] Chr17:30289357 [GRCh38]
Chr17:28616375 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 copy number loss See cases [RCV000143027] Chr17:28947825..32490020 [GRCh38]
Chr17:27274843..30817038 [GRCh37]
Chr17:24298969..27841151 [NCBI36]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_000386.4(BLMH):c.347G>A (p.Ser116Asn) single nucleotide variant not specified [RCV004319055] Chr17:30287922 [GRCh38]
Chr17:28614940 [GRCh37]
Chr17:17q11.2		 likely benign
NM_000386.4(BLMH):c.190A>G (p.Ile64Val) single nucleotide variant not specified [RCV004315852] Chr17:30291332 [GRCh38]
Chr17:28618350 [GRCh37]
Chr17:17q11.2		 likely benign
NC_000017.10:g.(?_27573882)_(29576157_?)del deletion Neurofibromatosis, type 1 [RCV003109263] Chr17:27573882..29576157 [GRCh37]
Chr17:17q11.2		 pathogenic
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.941C>T (p.Ala314Val) single nucleotide variant not specified [RCV004218615] Chr17:30272760 [GRCh38]
Chr17:28599778 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.689C>T (p.Thr230Ile) single nucleotide variant not specified [RCV004235348] Chr17:30274154 [GRCh38]
Chr17:28601172 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.994T>G (p.Phe332Val) single nucleotide variant not specified [RCV004207860] Chr17:30272595 [GRCh38]
Chr17:28599613 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.43A>T (p.Ile15Leu) single nucleotide variant not specified [RCV004247196] Chr17:30291479 [GRCh38]
Chr17:28618497 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.23C>T (p.Ser8Leu) single nucleotide variant not specified [RCV004144308] Chr17:30291499 [GRCh38]
Chr17:28618517 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.127C>T (p.Arg43Trp) single nucleotide variant not specified [RCV004126288] Chr17:30291395 [GRCh38]
Chr17:28618413 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.914T>C (p.Ile305Thr) single nucleotide variant not specified [RCV004217491] Chr17:30272787 [GRCh38]
Chr17:28599805 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.1318G>A (p.Glu440Lys) single nucleotide variant not specified [RCV004120457] Chr17:30249067 [GRCh38]
Chr17:28576085 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.215G>A (p.Arg72Gln) single nucleotide variant not specified [RCV004318006] Chr17:30289479 [GRCh38]
Chr17:28616497 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.595G>A (p.Gly199Arg) single nucleotide variant not specified [RCV004273833] Chr17:30285438 [GRCh38]
Chr17:28612456 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.998A>G (p.Asn333Ser) single nucleotide variant not specified [RCV004262093] Chr17:30272591 [GRCh38]
Chr17:28599609 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.998A>C (p.Asn333Thr) single nucleotide variant not specified [RCV004353396] Chr17:30272591 [GRCh38]
Chr17:28599609 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.1297G>A (p.Val433Met) single nucleotide variant not specified [RCV004336173] Chr17:30249088 [GRCh38]
Chr17:28576106 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.1087C>G (p.Leu363Val) single nucleotide variant not specified [RCV004355833] Chr17:30271330 [GRCh38]
Chr17:28598348 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.350C>G (p.Ala117Gly) single nucleotide variant not specified [RCV004344651] Chr17:30287919 [GRCh38]
Chr17:28614937 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1 copy number loss not provided [RCV003483317] Chr17:28387597..30812008 [GRCh37]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1 copy number loss not specified [RCV003987216] Chr17:28277040..30903559 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_000386.4(BLMH):c.844A>G (p.Lys282Glu) single nucleotide variant not specified [RCV004431482] Chr17:30272857 [GRCh38]
Chr17:28599875 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.842A>G (p.Asn281Ser) single nucleotide variant not specified [RCV004431481] Chr17:30272859 [GRCh38]
Chr17:28599877 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_28524804)_(29624377_?)del deletion Neurofibromatosis, type 1 [RCV004579908] Chr17:28524804..29624377 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_000386.4(BLMH):c.38C>T (p.Ala13Val) single nucleotide variant not specified [RCV004600401] Chr17:30291484 [GRCh38]
Chr17:28618502 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_000386.4(BLMH):c.1274A>G (p.Asp425Gly) single nucleotide variant not specified [RCV004600402] Chr17:30249111 [GRCh38]
Chr17:28576129 [GRCh37]
Chr17:17q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2667
Count of miRNA genes:1098
Interacting mature miRNAs:1375
Transcripts:ENST00000261714, ENST00000394819, ENST00000577290, ENST00000577306, ENST00000577623, ENST00000578090, ENST00000578795, ENST00000579325, ENST00000579957, ENST00000580709, ENST00000581037, ENST00000582669, ENST00000582749, ENST00000584603
Prediction methods:Microtar, Miranda, Pita, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407094435GWAS743411_HX-14626 measurement QTL GWAS743411 (human)4e-13X-14626 measurement173028437630284377Human
407025121GWAS674097_Hglycochenodeoxycholate 3-sulfate measurement QTL GWAS674097 (human)5e-18glycochenodeoxycholate 3-sulfate measurement173025988530259886Human
407138599GWAS787575_Hsexual dimorphism measurement QTL GWAS787575 (human)1e-08sexual dimorphism measurement173026351230263513Human
406999079GWAS648055_Hsex hormone-binding globulin measurement QTL GWAS648055 (human)5e-13sex hormone-binding globulin measurement173025648030256481Human
407311970GWAS960946_Htotal cholesterol measurement QTL GWAS960946 (human)4e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)173027681030276811Human
406895495GWAS544471_Hglycohyocholate measurement QTL GWAS544471 (human)4e-24glycohyocholate measurement173026502930265030Human
407018606GWAS667582_Hsex hormone-binding globulin measurement QTL GWAS667582 (human)3e-08sex hormone-binding globulin measurement173025648030256481Human
407377944GWAS1026920_Hblood protein measurement QTL GWAS1026920 (human)3e-1796blood protein measurementblood protein measurement (CMO:0000028)173024905830249059Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407311313GWAS960289_Hlow density lipoprotein cholesterol measurement QTL GWAS960289 (human)1e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)173025648030256481Human
407128402GWAS777378_HLewy body dementia QTL GWAS777378 (human)4e-08Lewy body dementia173027756830277569Human
407377941GWAS1026917_Hblood protein measurement QTL GWAS1026917 (human)4e-1681blood protein measurementblood protein measurement (CMO:0000028)173024905830249059Human
407311321GWAS960297_Htriglyceride measurement QTL GWAS960297 (human)3e-09triglyceride measurementblood triglyceride level (CMO:0000118)173025402530254026Human
407325305GWAS974281_Hlow density lipoprotein cholesterol measurement QTL GWAS974281 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)173025648030256481Human
406965311GWAS614287_Hlevel of bleomycin hydrolase in blood serum QTL GWAS614287 (human)1e-152level of bleomycin hydrolase in blood serum173026542730265428Human
406895903GWAS544879_Hglycolithocholate sulfate measurement QTL GWAS544879 (human)1e-09glycolithocholate sulfate measurement173024843230248433Human

Markers in Region
RH45325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,599,080 - 28,599,201UniSTSGRCh37
Build 361725,623,206 - 25,623,327RGDNCBI36
Celera1725,460,706 - 25,460,827RGD
Cytogenetic Map17q11.2UniSTS
HuRef1724,809,287 - 24,809,408UniSTS
GeneMap99-GB4 RH Map17274.26UniSTS
RH91724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,575,286 - 28,575,473UniSTSGRCh37
Build 361725,599,412 - 25,599,599RGDNCBI36
Celera1725,436,913 - 25,437,100RGD
Cytogenetic Map17q11.2UniSTS
HuRef1724,785,492 - 24,785,679UniSTS
GeneMap99-GB4 RH Map17274.36UniSTS
SHGC-111606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,594,859 - 28,595,160UniSTSGRCh37
Build 361725,618,985 - 25,619,286RGDNCBI36
Celera1725,456,486 - 25,456,787RGD
Cytogenetic Map17q11.2UniSTS
HuRef1724,805,065 - 24,805,366UniSTS
TNG Radiation Hybrid Map1711879.0UniSTS
SHGC-111440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,590,128 - 28,590,430UniSTSGRCh37
Build 361725,614,254 - 25,614,556RGDNCBI36
Celera1725,451,755 - 25,452,057RGD
Cytogenetic Map17q11.2UniSTS
HuRef1724,800,334 - 24,800,636UniSTS
TNG Radiation Hybrid Map1711882.0UniSTS
SHGC-24274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,575,354 - 28,575,473UniSTSGRCh37
Build 361725,599,480 - 25,599,599RGDNCBI36
Celera1725,436,981 - 25,437,100RGD
Cytogenetic Map17q11.2UniSTS
HuRef1724,785,560 - 24,785,679UniSTS
Stanford-G3 RH Map171141.0UniSTS
GeneMap99-G3 RH Map171642.0UniSTS
BLMH__4450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,575,358 - 28,576,162UniSTSGRCh37
Build 361725,599,484 - 25,600,288RGDNCBI36
Celera1725,436,985 - 25,437,789RGD
HuRef1724,785,564 - 24,786,368UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2249 4970 1726 2350 6 624 1951 465 2270 7300 6467 53 3731 1 852 1743 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI283058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG471412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC346179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261714   ⟹   ENSP00000261714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,248,203 - 30,291,944 (-)Ensembl
Ensembl Acc Id: ENST00000577290   ⟹   ENSP00000466948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,289,414 - 30,291,994 (-)Ensembl
Ensembl Acc Id: ENST00000577306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,272,258 - 30,273,130 (-)Ensembl
Ensembl Acc Id: ENST00000577623   ⟹   ENSP00000468681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,266,879 - 30,291,904 (-)Ensembl
Ensembl Acc Id: ENST00000578090   ⟹   ENSP00000462353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,248,822 - 30,291,849 (-)Ensembl
Ensembl Acc Id: ENST00000578795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,248,205 - 30,250,283 (-)Ensembl
Ensembl Acc Id: ENST00000579325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,273,765 - 30,285,539 (-)Ensembl
Ensembl Acc Id: ENST00000579957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,266,885 - 30,271,493 (-)Ensembl
Ensembl Acc Id: ENST00000580709   ⟹   ENSP00000466527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,287,824 - 30,292,042 (-)Ensembl
Ensembl Acc Id: ENST00000581037   ⟹   ENSP00000462442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,271,269 - 30,287,914 (-)Ensembl
Ensembl Acc Id: ENST00000582669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,273,278 - 30,285,506 (-)Ensembl
Ensembl Acc Id: ENST00000582749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,290,990 - 30,292,056 (-)Ensembl
Ensembl Acc Id: ENST00000584603   ⟹   ENSP00000468486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,272,741 - 30,291,667 (-)Ensembl
RefSeq Acc Id: NM_000386   ⟹   NP_000377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381730,248,203 - 30,291,944 (-)NCBI
GRCh371728,575,213 - 28,619,184 (-)ENTREZGENE
Build 361725,599,349 - 25,643,200 (-)NCBI Archive
HuRef1724,785,419 - 24,829,363 (-)ENTREZGENE
CHM1_11728,637,660 - 28,681,631 (-)NCBI
T2T-CHM13v2.01731,192,754 - 31,236,495 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000377   ⟸   NM_000386
- UniProtKB: Q53F86 (UniProtKB/Swiss-Prot),   B2R796 (UniProtKB/Swiss-Prot),   Q9UER9 (UniProtKB/Swiss-Prot),   Q13867 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000466527   ⟸   ENST00000580709
Ensembl Acc Id: ENSP00000462442   ⟸   ENST00000581037
Ensembl Acc Id: ENSP00000468486   ⟸   ENST00000584603
Ensembl Acc Id: ENSP00000466948   ⟸   ENST00000577290
Ensembl Acc Id: ENSP00000468681   ⟸   ENST00000577623
Ensembl Acc Id: ENSP00000462353   ⟸   ENST00000578090
Ensembl Acc Id: ENSP00000261714   ⟸   ENST00000261714

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13867-F1-model_v2 AlphaFold Q13867 1-455 view protein structure

Promoters
RGD ID:6814593
Promoter ID:HG_XEF:3325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_205104
Position:
Human AssemblyChrPosition (strand)Source
Build 361725,642,281 - 25,642,781 (-)MPROMDB
RGD ID:6793785
Promoter ID:HG_KWN:25649
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394819
Position:
Human AssemblyChrPosition (strand)Source
Build 361725,643,004 - 25,643,504 (-)MPROMDB
RGD ID:6851680
Promoter ID:EP73642
Type:initiation region
Name:HS_BLMH
Description:Bleomycin hydrolase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361725,643,088 - 25,643,148EPD
RGD ID:7234511
Promoter ID:EPDNEW_H22999
Type:initiation region
Name:BLMH_1
Description:bleomycin hydrolase
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
GRCh381730,291,937 - 30,291,997EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1059 AgrOrtholog
COSMIC BLMH COSMIC
Ensembl Genes ENSG00000108578 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261714 ENTREZGENE
  ENST00000261714.11 UniProtKB/Swiss-Prot
  ENST00000577290.1 UniProtKB/TrEMBL
  ENST00000577623.5 UniProtKB/TrEMBL
  ENST00000578090.5 UniProtKB/TrEMBL
  ENST00000580709.1 UniProtKB/TrEMBL
  ENST00000581037.5 UniProtKB/TrEMBL
  ENST00000584603.2 UniProtKB/TrEMBL
Gene3D-CATH Cysteine proteinases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108578 GTEx
HGNC ID HGNC:1059 ENTREZGENE
Human Proteome Map BLMH Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:642 UniProtKB/Swiss-Prot
NCBI Gene 642 ENTREZGENE
OMIM 602403 OMIM
PANTHER BLEOMYCIN HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_C1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB BLMH RGD, PharmGKB
PIRSF PepC UniProtKB/Swiss-Prot
PROSITE THIOL_PROTEASE_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R796 ENTREZGENE
  BLMH_HUMAN UniProtKB/Swiss-Prot
  J3KS79_HUMAN UniProtKB/TrEMBL
  J3KSD8_HUMAN UniProtKB/TrEMBL
  K7EMJ3_HUMAN UniProtKB/TrEMBL
  K7ENH5_HUMAN UniProtKB/TrEMBL
  K7ES02_HUMAN UniProtKB/TrEMBL
  K7ESE8_HUMAN UniProtKB/TrEMBL
  Q13867 ENTREZGENE
  Q53F86 ENTREZGENE
  Q9UER9 ENTREZGENE
UniProt Secondary B2R796 UniProtKB/Swiss-Prot
  Q53F86 UniProtKB/Swiss-Prot
  Q9UER9 UniProtKB/Swiss-Prot