Blmh MGI Mouse Gene Detail - MGI:1345186

Symbol

Blmh
Name

bleomycin hydrolase
Synonyms

MGC:36899, MGC:37104, MGC:39026

Feature Type

protein coding gene
IDs

MGI:1345186
NCBI Gene: 104184
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:76836482-76878215 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 46.16 cM
Mapping Data

3 experiments

SNPs within 2kb

912 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1345186	protein coding gene	Chr11:76815635-76878215 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018741	protein coding gene	Chr11:77807102-77850879 (+)
A/J	MGP_AJ_G0018707	protein coding gene	Chr11:74884568-74927289 (+)
AKR/J	MGP_AKRJ_G0018677	protein coding gene	Chr11:77153224-77195001 (+)
BALB/cJ	MGP_BALBcJ_G0018681	protein coding gene	Chr11:75266097-75308486 (+)
C3H/HeJ	MGP_C3HHeJ_G0018494	protein coding gene	Chr11:77173800-77216503 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019132	protein coding gene	Chr11:80254175-80298914 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016767	protein coding gene	Chr11:71855118-71914061 (+)
CAST/EiJ	MGP_CASTEiJ_G0018048	protein coding gene	Chr11:77569616-77617576 (+)
CBA/J	MGP_CBAJ_G0018464	protein coding gene	Chr11:83753253-83799576 (+)
DBA/2J	MGP_DBA2J_G0018573	protein coding gene	Chr11:74472699-74515480 (+)
FVB/NJ	MGP_FVBNJ_G0018563	protein coding gene	Chr11:74037717-74081244 (+)
LP/J	MGP_LPJ_G0018644	protein coding gene	Chr11:78411656-78454277 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018589	protein coding gene	Chr11:84220785-84265570 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019172	protein coding gene	Chr11:77368777-77410690 (+)
PWK/PhJ	MGP_PWKPhJ_G0017819	protein coding gene	Chr11:75194358-75259417 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017610	protein coding gene	Chr11:76916425-76992095 (+)
WSB/EiJ	MGP_WSBEiJ_G0018101	protein coding gene	Chr11:77181205-77224512 (+)

Human Ortholog

BLMH, bleomycin hydrolase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BLMH, bleomycin hydrolase
Synonyms

BH, BMH
Links

HGNC:1059

NCBI Gene ID: 642

neXtProt AC: NX_Q13867

UniProt: Q13867
Chr Location

17q11.2; chr17:30248203-30292056 (-) GRCh38

MGI Vertebrate Homology

Blmh stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BLMH
Protein SuperFamily

PepC
Gene Tree

Blmh

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Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
2 images
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

14
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

8
Targeted

4
Genomic Mutations

2 involving Blmh
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

About one-third of homozygous null mutants die neonatally; survivors develop variably penetrant tail dermatitis and pulmonary fibrosis following bleomycin treatment.

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All GO Annotations

16
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

707
Tissues

1
cDNA Data

188
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase blmh

ZFIN blmh

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All Sequences

71
RefSeq

2
UniProt

6
CCDS

CCDS25073.1

Ensembl

ENSMUSG00000020840 (Evidence)
NCBI Gene

104184

			Length	Strain/Species	Flank
genomic	104184	NCBI Gene Model \| MGI Sequence Detail	41734	C57BL/6J	± kb
transcript	NM_178645	RefSeq \| MGI Sequence Detail	2355	C57BL/6
polypeptide	Q8R016	UniProt \| EBI \| MGI Sequence Detail	455	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004760 bleomycin hydrolase

(term hierarchy)
EC

3.4.22.40
InterPro Domains

IPR000169 Cysteine peptidase, cysteine active site

IPR038765 Papain-like cysteine peptidase superfamily

IPR004134 Peptidase C1B, bleomycin hydrolase

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All nucleic 188

cDNA 188

Microarray probesets 5

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MGI:2145940

Summaries

All 51

Developmental Gene Expression 2

Gene Ontology 8

Phenotypes 20
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:296916 Thyssen JP, et al., Filaggrin Expression and Processing Deficiencies Impair Corneocyte Surface Texture and Stiffness in Mice. J Invest Dermatol. 2020 Mar;140(3):615-623.e5

TSS for Blmh:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103117	Chr11:76836486-76836497 (+)	10 bp
Tssr103118	Chr11:76836528-76836539 (+)	52 bp
Tssr103119	Chr11:76836545-76836617 (+)	99 bp
Tssr103120	Chr11:76836633-76836642 (+)	156 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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