Bpnt1 MGI Mouse Gene Detail - MGI:1338800 - 3'(2'), 5'-bisphosphate nucleotidase 1

Symbol

Bpnt1
Name

3'(2'), 5'-bisphosphate nucleotidase 1
Synonyms

bisphosphate 3'-nucleotidase 1, BPntase

Feature Type

protein coding gene
IDs

MGI:1338800
NCBI Gene: 23827
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr1:185064346-185089974 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 89.49 cM, cytoband H4
Mapping Data

2 experiments

SNPs within 2kb

969 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1338800	protein coding gene	Chr1:185061619-185089974 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016915	protein coding gene	Chr1:192053674-192087984 (+)
A/J	MGP_AJ_G0016894	protein coding gene	Chr1:184206904-184233302 (+)
AKR/J	MGP_AKRJ_G0016859	protein coding gene	Chr1:189626825-189652605 (+)
BALB/cJ	MGP_BALBcJ_G0016852	protein coding gene	Chr1:184846807-184875061 (+)
C3H/HeJ	MGP_C3HHeJ_G0016676	protein coding gene	Chr1:190500887-190531742 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017315	protein coding gene	Chr1:198190434-198217932 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015022	protein coding gene	Chr1:175192094-175218291 (+)
CAST/EiJ	MGP_CASTEiJ_G0016259	protein coding gene	Chr1:189928368-189957502 (+)
CBA/J	MGP_CBAJ_G0016650	protein coding gene	Chr1:205586203-205614386 (+)
DBA/2J	MGP_DBA2J_G0016756	protein coding gene	Chr1:182966901-182993128 (+)
FVB/NJ	MGP_FVBNJ_G0016752	protein coding gene	Chr1:181063308-181093263 (+)
LP/J	MGP_LPJ_G0016831	protein coding gene	Chr1:193210697-193237713 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016784	protein coding gene	Chr1:212457499-212490014 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017352	protein coding gene	Chr1:189509488-189535096 (+)
PWK/PhJ	MGP_PWKPhJ_G0016046	protein coding gene	Chr1:182175219-182201285 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015822	protein coding gene	Chr1:188461011-188487716 (+)
WSB/EiJ	MGP_WSBEiJ_G0016321	protein coding gene	Chr1:189673646-189699782 (+)

Human Ortholog

BPNT1, 3'(2'), 5'-bisphosphate nucleotidase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BPNT1, 3'(2'), 5'-bisphosphate nucleotidase 1
Synonyms

HEL20, HsPIP, PIP
Links

HGNC:1096

NCBI Gene ID: 10380

neXtProt AC: NX_O95861

UniProt: O95861
Chr Location

1q41; chr1:220057482-220090462 (-) GRCh38

MGI Vertebrate Homology

Bpnt1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BPNT1
Gene Tree

Bpnt1

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Phenotype Summary

15 phenotypes from 1 allele in 1 genetic background
2 phenotypes from multigenic genotypes
15 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

93
Endonuclease-mediated

1
Gene trapped

88
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele develop severe liver pathologies, including hypoproteinemia, abnormal hepatocellular morphology and damage, and in severe cases, whole body edema and premature death.

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All GO Annotations

8
GO References

6

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

803
Tissues

97
cDNA Data

63
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bpnt1

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All Sequences

64
RefSeq

12
UniProt

6
CCDS

CCDS15597.1, CCDS83657.1, CCDS83658.1

Ensembl

ENSMUSG00000026617 (Evidence)
NCBI Gene

23827

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026617	Ensembl Gene Model \| MGI Sequence Detail	25629	C57BL/6J	± kb
transcript	ENSMUST00000210277	Ensembl \| MGI Sequence Detail	1226	Not Applicable
polypeptide	ENSMUSP00000147674	Ensembl \| MGI Sequence Detail	323	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004798 3'(2'),5'-bisphosphate nucleotidase 1

(term hierarchy)
EC

3.1.3.57, 3.1.3.7
InterPro Domains

IPR050725 CysQ/Inositol Monophosphatase

IPR020550 Inositol monophosphatase, conserved site

IPR000760 Inositol monophosphatase-like

IPR020583 Inositol monophosphatase, metal-binding site
GlyGen

Q9Z0S1 1 site, 1 O-linked glycan (1 site)

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All nucleic 65

cDNA 65

Microarray probesets 4

Summaries

All 45

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 15
Earliest

J:54522 Spiegelberg BD, et al., Cloning and characterization of a mammalian lithium-sensitive bisphosphate 3'-nucleotidase inhibited by inositol 1,4-bisphosphate. J Biol Chem. 1999 May 7;274(19):13619-28
Latest

J:317676 Hale AT, et al., Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice. Adv Biol Regul. 2020 May;76:100694

TSS for Bpnt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10602	Chr1:185064340-185064413 (+)	31 bp
Tssr10603	Chr1:185088825-185088837 (+)	24,485 bp
Tssr10604	Chr1:185088840-185088856 (+)	24,502 bp
Tssr10605	Chr1:185089232-185089242 (+)	24,891 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24