PERP (p53 apoptosis effector related to PMP22)

Gene: PERP (p53 apoptosis effector related to PMP22) Sus scrofa

Analyze

Symbol:

PERP

Name:

p53 apoptosis effector related to PMP22

RGD ID:

13858929

Description:

INVOLVED IN amelogenesis (ortholog); desmosome organization (ortholog); heterotypic cell-cell adhesion (ortholog); ASSOCIATED WITH Erythrokeratodermia Variabilis et Progressiva 7 (ortholog); Familial Behcet-Like Autoinflammatory Syndrome (ortholog); genetic disease (ortholog); FOUND IN desmosome (ortholog)

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

p53 apoptosis effector related to PMP-22; PERP, TP53 apoptosis effector

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	26,301,252 - 26,317,868 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	26,301,254 - 26,317,046 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	29,555,756 - 29,574,041 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Erythrokeratodermia Variabilis et Progressiva 7 (ISO)

Familial Behcet-Like Autoinflammatory Syndrome (ISO)

genetic disease (ISO)

Olmsted Syndrome 2 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amelogenesis (IEA,ISO)

cell-cell adhesion (IBA,IEA)

desmosome organization (IEA,ISO)

heterotypic cell-cell adhesion (IEA,ISO)

intrinsic apoptotic signaling pathway by p53 class mediator (IEA,ISO)

mammary gland duct morphogenesis (ISO)

Notch signaling pathway (IEA,ISO)

positive regulation of neutrophil chemotaxis (ISO)

positive regulation of proteolysis (IEA)

tissue homeostasis (ISO)

Cellular Component

cell-cell junction (IBA,IEA)

desmosome (ISO)

Golgi apparatus (IEA)

membrane (IEA)

mitochondrion (IEA)

plasma membrane (IEA)

Molecular Function

protein binding (ISO)

References

Additional References at PubMed

PMID:14681463	PMID:15679890	PMID:17145712	PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

PERP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	26,301,252 - 26,317,868 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	26,301,254 - 26,317,046 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	29,555,756 - 29,574,041 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PERP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	138,088,505 - 138,107,419 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	138,088,505 - 138,107,419 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	138,409,642 - 138,428,556 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	138,453,619 - 138,470,280 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	138,453,618 - 138,470,280	NCBI
Celera	6	139,149,757 - 139,168,773 (-)	NCBI		Celera
Cytogenetic Map	6	q23.3	NCBI
HuRef	6	135,971,089 - 135,990,120 (-)	NCBI		HuRef
CHM1_1	6	138,671,982 - 138,691,001 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	139,276,972 - 139,295,905 (-)	NCBI		T2T-CHM13v2.0

Perp
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	18,720,819 - 18,732,821 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	18,720,768 - 18,732,821 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	18,845,071 - 18,857,073 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	18,845,020 - 18,857,073 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	18,564,877 - 18,576,879 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	18,534,487 - 18,546,489 (+)	NCBI		MGSCv36	mm8
Celera	10	18,748,886 - 18,761,084 (+)	NCBI		Celera
Cytogenetic Map	10	A3	NCBI
cM Map	10	7.97	NCBI

Perp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	15,361,784 - 15,374,230 (+)	NCBI		GRCr8
mRatBN7.2	1	13,542,067 - 13,554,514 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	13,542,067 - 13,554,511 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	13,309,957 - 13,322,172 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	19,311,879 - 19,324,094 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	13,522,288 - 13,534,734 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	14,224,392 - 14,236,838 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	14,224,393 - 14,236,846 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	15,786,756 - 15,799,202 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	13,976,356 - 13,988,803 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	13,976,417 - 13,988,865 (+)	NCBI
Celera	1	11,994,747 - 12,007,193 (+)	NCBI		Celera
Cytogenetic Map	1	p12	NCBI

Perp
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955436	21,417,332 - 21,431,312 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955436	21,425,321 - 21,430,780 (+)	NCBI	ChiLan1.0	ChiLan1.0

PERP
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	158,052,065 - 158,069,866 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	155,949,703 - 155,967,511 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	135,845,845 - 135,863,603 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	139,931,031 - 139,947,785 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	139,931,031 - 139,947,792 (-)	Ensembl	panpan1.1		panPan2

PERP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	30,418,847 - 30,435,287 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	30,419,963 - 30,435,859 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	31,302,107 - 31,318,554 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	30,586,637 - 30,602,974 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	30,586,649 - 30,603,057 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	30,465,332 - 30,481,655 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	30,346,928 - 30,363,397 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	30,655,974 - 30,672,424 (-)	NCBI		UU_Cfam_GSD_1.0

Perp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	125,505,855 - 125,522,032 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936560	5,284,612 - 5,301,478 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936560	5,285,071 - 5,301,253 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PERP
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	13	35,305,552 - 35,322,112 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	35,305,678 - 35,322,099 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	7,499,793 - 7,516,318 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Perp
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624753	15,772,083 - 15,786,794 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624753	15,772,104 - 15,786,238 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PERP
525 total Variants

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	hemolymphoid system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system
High
Medium	8	2	3	1		3	2	3	1
Low	2	2		3	2	19			2
Below cutoff				1		1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001244825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK239608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK239953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK346189	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK393767	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK394973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK397376	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY609621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GFLN01019236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSSCT00000051639 ⟹ ENSSSCP00000049737

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	1	26,301,252 - 26,317,868 (+)	Ensembl

RefSeq Acc Id:

NM_001244825 ⟹ NP_001231754

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	1	26,301,254 - 26,317,046 (+)	NCBI

Sequence:

show sequence

GTCACCGGAATCTAGGTGGGGCCGGCGCCGCGCCCCCGCGGCCAGCCGGGAGTCGCGTCCTCCC
GGAGCCGCCTCCCCGCGGCTTCTTCCCTTTTGTCGCGCTCCCCGCGCTCCGGGGCCACTCTCTG
CCTGCATCCGAGCCACGCGCGTTCCTCTCCTCCGCGCCACCACCGTCGAGATGCTGCGCTGCGG
CCTGGCCTGCGAGCGCTGCAGGTGGATCCTGCCCCTGCTGCTGCTCAGCGCCATTGCCTTCGAC
ATTATCGCGCTGGCCGGCCGCGGCTGGCTGCAGTCAAGCGACCATGTCCAGACGTCCTCGCTGT
GGTGGAAGTGTTCTCAGGAGGGCGGCGGCAGCGGGTCCTACGAGGAAGGCTGCCAGAGTCTCAT
GGATTACGCCTGGGGAAGGGCAGCCGCTGCCATGCTCTTCTGTGGCTTTATCATCCTGGTGATC
TGTTTCATCCTCTCCTTCTTTGCCCTCTGTGGACCCCAAATGCTTGTCTTCCTGCGAGTGATCG
GAGGCCTCCTGGCCCTGGCTGCTGTGTTCCAGATCATCTCCTTGGTCATTTACCCTGTGAAGTA
CACCCAGACCTTCAACCTTCATGCCAACCCTGCTGTCACTTACATCTATAACTGGGCCTATGGC
TTTGGGTGGGCGGCCACAATTATCCTGATCGGCTGTGCCTTCTTCTTCTGTTGCCTCCCCAACT
ACGAAGATGACCTCCTGGGCAACGCCAAGCCCCGGTACTTCTACACATCTGCCTAAAGTGGGAA
AGGAGCAGAAGAAAATCGCTGCTGCCCAGATGGAGTCCAGAGAAAAAAACTGTTTTCCCCACAA
TACCTTGAATACCTATTTGGGGGGCACTGTTCATGTTATTAAACTAGAGTCAAAATGCTAAAAT
AATATTTCTTAAATGGTGTTATAGTTTCATATTCACCTTTTATATATGTTTTGTAGTGATAAAC
AAGACTTACTTTGAACTAATGACCTAGTGACTAACATGCCAGCGTTTCCTTATATCTACCCATA
CCATGTATAATGCATTTGTAAAAGAATATGAGTATGAAATGTACCATATAATTTATAAGGTAAA
AATGAGAAGGCTTCCAAAGATTTAAGTAACCCGATCAGGTTTCTGTTTTTCTCAGATGGAATGG
ACTGGGTCTATTTAGGACTAAGGAGAAAAGGGCGATATTGGTTAAAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001231754	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSSCP00000049737
	ENSSSCP00000049737.1
	ENSSSCP00005025561.1
	ENSSSCP00015003302.1
	ENSSSCP00025039648.1
	ENSSSCP00035030635.1
	ENSSSCP00065014797.1
	ENSSSCP00070042499.1

RefSeq Acc Id:	NP_001231754 ⟸ NM_001244825
- UniProtKB:	A0A4X1VKL0 (UniProtKB/TrEMBL), A0A8D0MJG0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHVQTSSLWWKCSQEGGGSGSYEEG CQSLMDYAWGRAAAAMLFCGFIILVICFILSFFALCGPQMLVFLRVIGGLLALAAVFQIISLVI YPVKYTQTFNLHANPAVTYIYNWAYGFGWAATIILIGCAFFFCCLPNYEDDLLGNAKPRYFYTS A hide sequence

RefSeq Acc Id:

ENSSSCP00000049737 ⟸ ENSSSCT00000051639

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000038420	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00005026422	UniProtKB/TrEMBL
	ENSSSCG00015006174	UniProtKB/TrEMBL
	ENSSSCG00025065922	UniProtKB/TrEMBL
	ENSSSCG00035056391	UniProtKB/TrEMBL
	ENSSSCG00065026343	UniProtKB/TrEMBL
	ENSSSCG00070025155	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000051639	ENTREZGENE
	ENSSSCT00000051639.3	UniProtKB/TrEMBL
	ENSSSCT00005041799.1	UniProtKB/TrEMBL
	ENSSSCT00015008198.1	UniProtKB/TrEMBL
	ENSSSCT00025090489.1	UniProtKB/TrEMBL
	ENSSSCT00035075305.1	UniProtKB/TrEMBL
	ENSSSCT00065035391.1	UniProtKB/TrEMBL
	ENSSSCT00070050295.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.140.150	UniProtKB/TrEMBL
InterPro	P53_induced	UniProtKB/TrEMBL
	PMP22/EMP/MP20/Claudin	UniProtKB/TrEMBL
KEGG Report	ssc:100513507	UniProtKB/TrEMBL
NCBI Gene	PERP	ENTREZGENE
PANTHER	P53 APOPTOSIS EFFECTOR RELATED TO PMP-22	UniProtKB/TrEMBL
	PTHR14399	UniProtKB/TrEMBL
Pfam	PMP22_Claudin	UniProtKB/TrEMBL
UniProt	A0A287B0U9_PIG	UniProtKB/TrEMBL
	A0A4X1VKL0	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D0MJG0	ENTREZGENE, UniProtKB/TrEMBL
VGNC ID	VGNC:91316	ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-02-05	PERP	p53 apoptosis effector related to PMP22		PERP, TP53 apoptosis effector	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

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