Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

PERP

protein_coding 6 138,015,003 - 138,107,848 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000112378

Gene type
protein_coding

Chromosome
6

Coordinates
138,015,003 - 138,107,848

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

64065 CCDS5188 ENST00000421351.4 KCP1 KRTCAP1 NM_022121 NM_022121.5 PERP, TP53 apoptosis effector PIGPC1 Q96FX8 THW dJ496H19.1 keratinocyte associated protein 1

Summary

GENCODE gene_type=protein_coding; HGNC symbol=PERP; HGNC name=p53 apoptosis effector related to PMP22; alias_count=14; RefSeq=NM_022121; UniProt=Q96FX8; MANE Select=ENST00000421351.4,NM_022121.5

Source: GENCODE + HGNC complete set

64065 • protein-coding

Alliance of Genome Resources Involved in positive regulation of neutrophil chemotaxis and positive regulation of proteolysis. Predicted to be located in desmosome and plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Jul 2025]

NCBI Gene

UniProt

Q96FX8 • reviewed

Component of intercellular desmosome junctions (By similarity). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (By similarity). Thereby plays a role in barrier function of the skin against infection (By similarity). Plays a role in mammary epithelial tissue homeostasis and remodeling during and after pregnancy, potentially via its involvement in desmosome cell-cell junctions (By similarity). Required for tooth enamel development via facilitating desmosome-mediated ameloblast adhesion to the stratum intermedium during the transitional stage of amelogenesis (By similarity). May also play a role in downstream transcriptional regulation of other genes involved in amelogenesis such as AMBN, ENAM, MMP20 and KLK4 (By similarity). Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). Positively regulates apoptosis in T-helper 17 (Th17) cell populations via caspase-dependent signaling (By similarity). Promotes neutrophil transepithelial migration in response to chemoattractants such as hepoxilin A3 (HXA3), N-Formylmethionyl-leucyl-phenylalanine (fMLP) and CXCL8/IL-8 (PubMed:25486861). Required for neutrophil transepithelial migration in response to S.typhimurium infection (PubMed:25486861). May act as a positive regulator of endothelial cell apoptosis in response to blood flow-derived shear stress (By similarity)

p53 apoptosis effector related to PMP-22 · Cell junction, desmosome; Cell membrane; Cytoplasm

GO annotations

Biological process

GO:0098609 cell-cell adhesion (IBA)
GO:0060603 mammary gland duct morphogenesis (ISS)
GO:0060603 mammary gland duct morphogenesis (IEA)
GO:0070234 positive regulation of T cell apoptotic process (ISS)
GO:0070234 positive regulation of T cell apoptotic process (IEA)
GO:0090023 positive regulation of neutrophil chemotaxis (IMP)
GO:0045862 positive regulation of proteolysis (IDA)
GO:0001894 tissue homeostasis (ISS)
GO:0001894 tissue homeostasis (IEA)

Cellular component

GO:0005794 Golgi apparatus (IEA)
GO:0005911 cell-cell junction (IBA)
GO:0005737 cytoplasm (IEA)
GO:0005737 cytoplasm (IEA)
GO:0005737 cytoplasm (EXP)
GO:0030057 desmosome (ISS)
GO:0030057 desmosome (IEA)
GO:0030057 desmosome (IEA)
GO:0016020 membrane (IEA)
GO:0005739 mitochondrion (IEA)

+ 8 more

Molecular function

GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)

Representative

Representative transcript
ENST00000421351

Representative protein
ENSP00000397157.2

Representative type
CCDS

Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00001114423	PERP-203	protein_coding	not available	ENSP00000784228.1	6:138,015,003 - 138,107,848 -
ENST00000421351	PERP-201	protein_coding	not available	ENSP00000397157.2	6:138,088,505 - 138,107,419 -
ENST00001138660	PERP-204	protein_coding	not available	ENSP00000812742.1	6:138,088,505 - 138,107,848 -
ENST00001101667	PERP-202	protein_coding	not available	ENSP00000771473.1	6:138,091,911 - 138,107,848 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.