Perp MGI Mouse Gene Detail - MGI:1929938 - PERP, TP53 apoptosis effector

Symbol

Perp
Name

PERP, TP53 apoptosis effector
Synonyms

1110017A08Rik, KCP1, KRTCAP1, PIGPC1

Feature Type

protein coding gene
IDs

MGI:1929938
NCBI Gene: 64058
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr10:18720819-18732821 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 7.97 cM, cytoband A2
Mapping Data

2 experiments

SNPs within 2kb

493 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1929938	protein coding gene	Chr10:18720768-18732821 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017042	protein coding gene	Chr10:16541395-16553369 (+)
A/J	MGP_AJ_G0017020	protein coding gene	Chr10:15911949-15923949 (+)
AKR/J	MGP_AKRJ_G0016984	protein coding gene	Chr10:16169920-16183237 (+)
BALB/cJ	MGP_BALBcJ_G0016978	protein coding gene	Chr10:15974356-15986613 (+)
C3H/HeJ	MGP_C3HHeJ_G0016803	protein coding gene	Chr10:16501181-16513114 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017440	protein coding gene	Chr10:16944608-16956560 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015145	protein coding gene	Chr10:14939713-14951579 (+)
CAST/EiJ	MGP_CASTEiJ_G0016385	protein coding gene	Chr10:16317120-16329398 (+)
CBA/J	MGP_CBAJ_G0016775	protein coding gene	Chr10:17708189-17722752 (+)
DBA/2J	MGP_DBA2J_G0016883	protein coding gene	Chr10:15800221-15812755 (+)
FVB/NJ	MGP_FVBNJ_G0016878	protein coding gene	Chr10:15560567-15572515 (+)
LP/J	MGP_LPJ_G0016958	protein coding gene	Chr10:16366135-16378045 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016908	protein coding gene	Chr10:18013773-18025698 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017478	protein coding gene	Chr10:16150372-16162335 (+)
PWK/PhJ	MGP_PWKPhJ_G0016170	protein coding gene	Chr10:15640775-15653512 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015953	protein coding gene	Chr10:16301414-16313441 (+)
WSB/EiJ	MGP_WSBEiJ_G0016447	protein coding gene	Chr10:16246355-16259261 (+)

Human Ortholog

PERP, p53 apoptosis effector related to PMP22

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PERP, p53 apoptosis effector related to PMP22
Synonyms

dJ496H19.1, EKVP7, KCP1, KRTCAP1, OLMS2, PIGPC1, THW
Links

HGNC:17637

NCBI Gene ID: 64065

neXtProt AC: NX_Q96FX8

UniProt: Q96FX8
Chr Location

6q23.3; chr6:138088505-138107419 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PERP
Gene Tree

Perp

Diseases

2 with human PERP associations

				Human Disease	Mouse Models
				erythrokeratodermia variabilis IDs erythrokeratodermia variabilis DOID:0050467 MESH:D056266 NCI:C84696 OMIM:PS133200 ORDO:317 UMLS_CUI:C0265961 UMLS_CUI:C1851480
				mutilating palmoplantar keratoderma with periorificial keratotic plaques IDs mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112011 ORDO:659

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

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Phenotype Summary

8 phenotypes from 2 alleles in 1 genetic background
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

8
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

4
Genomic Mutations

1 involving Perp
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

9 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous inactivation of this locus results in increased lethality during the postnatal period.

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All GO Annotations

21
GO References

10

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

990
Tissues

88
cDNA Data

9
Literature Summary

16

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase perp

ZFIN perp

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All Sequences

34
RefSeq

2
UniProt

1
CCDS

CCDS23714.1

Ensembl

ENSMUSG00000019851 (Evidence)
NCBI Gene

64058

			Length	Strain/Species	Flank
genomic	64058	NCBI Gene Model \| MGI Sequence Detail	12003	C57BL/6J	± kb
transcript	NM_022032	RefSeq \| MGI Sequence Detail	1901	C57BL/6
polypeptide	Q9JK95	UniProt \| EBI \| MGI Sequence Detail	193	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012551 p53 apoptosis effector related to PMP-22

(term hierarchy)
InterPro Domains

IPR015664 P53-induced protein

IPR004031 PMP-22/EMP/MP20/Claudin

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All nucleic 14

cDNA 10

Primer pair 2

Other 2

Microarray probesets 3

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MGI:1915072

Summaries

All 62

Developmental Gene Expression 16

Gene Ontology 10

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:326958 Sapir T, et al., Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex. Nat Commun. 2022 Jul 21;13(1):4209

TSS for Perp:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr92499	Chr10:18720714-18720725 (+)	-99 bp
Tssr92500	Chr10:18720760-18720771 (+)	-53 bp
Tssr92501	Chr10:18720804-18720815 (+)	-9 bp
Tssr92502	Chr10:18720823-18720830 (+)	8 bp
Tssr92503	Chr10:18720844-18720860 (+)	33 bp
Tssr92504	Chr10:18720872-18720887 (+)	61 bp
Tssr92505	Chr10:18729315-18729366 (+)	8,522 bp
Tssr92506	Chr10:18731535-18731564 (+)	10,731 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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