Pitrm1 MGI Mouse Gene Detail - MGI:1916867 - pitrilysin metallepetidase 1

Symbol

Pitrm1
Name

pitrilysin metallepetidase 1
Synonyms

2310012C15Rik, mKIAA1104, MP-1, Ntup1, PreP

Feature Type

protein coding gene
IDs

MGI:1916867
NCBI Gene: 69617
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr13:6598158-6630194 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 3.25 cM
Mapping Data

2 experiments

SNPs within 2kb

1181 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916867	protein coding gene	Chr13:6598158-6630551 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020214	protein coding gene	Chr13:3118721-3154318 (+)
A/J	MGP_AJ_G0020170	protein coding gene	Chr13:3147622-3183389 (+)
AKR/J	MGP_AKRJ_G0020145	protein coding gene	Chr13:3226375-3258891 (+)
BALB/cJ	MGP_BALBcJ_G0020153	protein coding gene	Chr13:3143098-3174336 (+)
C3H/HeJ	MGP_C3HHeJ_G0019957	protein coding gene	Chr13:3309272-3343174 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020600	protein coding gene	Chr13:3309329-3345943 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018210	protein coding gene	Chr13:3046202-3079125 (+)
CAST/EiJ	MGP_CASTEiJ_G0019497	protein coding gene	Chr13:3102399-3134254 (+)
CBA/J	MGP_CBAJ_G0019924	protein coding gene	Chr13:3372075-3411615 (+)
DBA/2J	MGP_DBA2J_G0020041	protein coding gene	Chr13:3058085-3093325 (+)
FVB/NJ	MGP_FVBNJ_G0020026	protein coding gene	Chr13:2938848-2970581 (+)
LP/J	MGP_LPJ_G0020115	protein coding gene	Chr13:3268825-3302436 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020062	protein coding gene	Chr13:3610731-3649127 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020628	protein coding gene	Chr13:3178304-3211197 (+)
PWK/PhJ	MGP_PWKPhJ_G0019259	protein coding gene	Chr13:3089186-3124121 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019065	protein coding gene	Chr13:3246470-3278036 (+)
WSB/EiJ	MGP_WSBEiJ_G0019555	protein coding gene	Chr13:3111506-3144354 (+)

Human Ortholog

PITRM1, pitrilysin metallopeptidase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PITRM1, pitrilysin metallopeptidase 1
Synonyms

MP1, PreP, SCAR30
Links

HGNC:17663

NCBI Gene ID: 10531

neXtProt AC: NX_Q5JRX3

UniProt: Q5JRX3
Chr Location

10p15.2; chr10:3137727-3172841 (-) GRCh38

MGI Vertebrate Homology

Pitrm1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PITRM1
Gene Tree

Pitrm1

Diseases

1 with human PITRM1 associations

				Human Disease	Mouse Models
				autosomal recessive spinocerebellar ataxia 30 IDs autosomal recessive spinocerebellar ataxia 30 DOID:0070411 OMIM:619405

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

20 phenotypes from 1 allele in 1 genetic background
7 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

1
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

54 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice show complete preweaning lethality. Heterozygotes show progressive ataxia, neurodegeneration, and accumulation of amyloid beta deposits. Mitochondria show impaired degradation rate of amyloid beta.

less

All GO Annotations

14
GO References

5

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.

less

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

981
Tissues

115
cDNA Data

148
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pitrm1

ZFIN pitrm1

less

All Sequences

70
RefSeq

8
UniProt

4
CCDS

CCDS36585.1

Ensembl

ENSMUSG00000021193 (Evidence)
NCBI Gene

69617

			Length	Strain/Species	Flank
genomic	69617	NCBI Gene Model \| MGI Sequence Detail	32037	C57BL/6J	± kb
transcript	NM_145131	RefSeq \| MGI Sequence Detail	3547	C57BL/6
polypeptide	Q8K411	UniProt \| EBI \| MGI Sequence Detail	1036	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000012759 presequence protease, mitochondrial

(term hierarchy)
EC

3.4.24.-
InterPro Domains

IPR011249 Metalloenzyme, LuxS/M16 peptidase-like

IPR013578 Peptidase M16C associated

IPR007863 Peptidase M16, C-terminal

IPR011765 Peptidase M16, N-terminal
GlyGen

Q8K411 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

less

All nucleic 150

cDNA 148

Primer pair 2

Microarray probesets 3

less

MGI:2145156

Summaries

All 40

Developmental Gene Expression 4

Gene Ontology 5

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pitrm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr118282	Chr13:6598171-6598182 (+)	19 bp
Tssr118283	Chr13:6598190-6598210 (+)	42 bp
Tssr118284	Chr13:6598212-6598226 (+)	61 bp
Tssr118285	Chr13:6605430-6605470 (+)	7,292 bp
Tssr118286	Chr13:6608504-6608510 (+)	10,349 bp
Tssr118287	Chr13:6609423-6609463 (+)	11,285 bp
Tssr118288	Chr13:6613505-6613514 (+)	15,352 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 11/19/2024 MGI 6.24