Tpcn1 MGI Mouse Gene Detail - MGI:2182472

Symbol

Tpcn1
Name

two pore channel 1
Synonyms

5730403B01Rik

Feature Type

protein coding gene
IDs

MGI:2182472
NCBI Gene: 252972
Gene Overview

MyGene.info: TPCN1
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr5:120534153-120588673 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 60.63 cM
Mapping Data

3 experiments

SNPs within 2kb

26 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2182472	protein coding gene	Chr5:120534153-120588698 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030006	protein coding gene	Chr5:123891442-123971349 (-)
A/J	MGP_AJ_G0029970	protein coding gene	Chr5:118779361-118834369 (-)
AKR/J	MGP_AKRJ_G0029909	protein coding gene	Chr5:122609179-122669902 (-)
BALB/cJ	MGP_BALBcJ_G0029981	protein coding gene	Chr5:120194701-120251794 (-)
C3H/HeJ	MGP_C3HHeJ_G0029701	protein coding gene	Chr5:123142292-123206143 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030436	protein coding gene	Chr5:128556218-128625233 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027662	protein coding gene	Chr5:113487088-113544261 (-)
CAST/EiJ	MGP_CASTEiJ_G0029110	protein coding gene	Chr5:122269215-122331455 (-)
CBA/J	MGP_CBAJ_G0029669	protein coding gene	Chr5:133540828-133615343 (-)
DBA/2J	MGP_DBA2J_G0029819	protein coding gene	Chr5:118863162-118919053 (-)
FVB/NJ	MGP_FVBNJ_G0029775	protein coding gene	Chr5:117785650-117844501 (-)
LP/J	MGP_LPJ_G0029907	protein coding gene	Chr5:124363153-124422218 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029806	protein coding gene	Chr5:137516238-137580149 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030477	protein coding gene	Chr5:122186261-122248428 (-)
PWK/PhJ	MGP_PWKPhJ_G0028823	protein coding gene	Chr5:117623668-117680105 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028662	protein coding gene	Chr5:119851177-119907534 (-)
WSB/EiJ	MGP_WSBEiJ_G0029185	protein coding gene	Chr5:122776279-122841592 (-)

Human Ortholog

TPCN1, two pore segment channel 1

Vertebrate Orthologs

10

Human Ortholog

TPCN1, two pore segment channel 1
Orthology source: HomoloGene, HGNC
Synonyms

TPC1
Links

HGNC:18182

NCBI Gene ID: 53373

neXtProt AC: NX_Q9ULQ1

UniProt: Q9ULQ1
Chr Location

12q24.13; chr12:113221429-113298589 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 9905
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: TPCN1
Gene Tree

Tpcn1

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Phenotype Summary

3 phenotypes from 3 alleles in 3 genetic backgrounds
1 phenotype from multigenic genotypes
22 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

27
Chemically induced (other)

1
Gene trapped

20
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Tpcn1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

19 strains or lines available

Homozygous inactivation of this gene results in no apparent phenotypic abnormalities.

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All GO Annotations

28
GO References

5

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

49
Tissues

29
cDNA Data

89
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tpcn1

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Tpcn1 interacts with 271 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

47
RefSeq

10
UniProt

2
CCDS

CCDS39239.1
UniGene

114054

Ensembl

ENSMUSG00000032741 (Evidence)
NCBI Gene

252972

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032741	Ensembl Gene Model \| MGI Sequence Detail	54521	C57BL/6J	± kb
transcript	ENSMUST00000046426	Ensembl \| MGI Sequence Detail	4712	Not Applicable
polypeptide	ENSMUSP00000042188	Ensembl \| MGI Sequence Detail	817	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000016570 two pore calcium channel protein 1

(term hierarchy)
PDB

6C96, 6C9A
InterPro Domains

IPR005821 Ion transport domain

IPR028801 Two pore calcium channel protein 1

IPR027359 Voltage-dependent channel domain superfamily

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All nucleic 99

Genomic 6

cDNA 90

Primer pair 3

Microarray probesets 5

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MGI:2443784

Summaries

All 49

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 22
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:276419 She J, et al., Structural insights into the voltage and phospholipid activation of the mammalian TPC1 channel. Nature. 2018 Apr 5;556(7699):130-134

TSS for Tpcn1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr52945	Chr5:120588662-120588669 (-)	7 bp
Tssr52944	Chr5:120588615-120588651 (-)	40 bp
Tssr52941	Chr5:120560416-120560436 (-)	28,247 bp
Tssr52940	Chr5:120560404-120560413 (-)	28,264 bp
Tssr52939	Chr5:120560373-120560402 (-)	28,285 bp
Tssr52938	Chr5:120560352-120560372 (-)	28,311 bp
Tssr52937	Chr5:120560245-120560295 (-)	28,403 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 & Copyright Notice Send questions and comments to User Support.	last database update 10/08/2019 MGI 6.14