Q96FX8 (PERP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
p53 apoptosis effector related to PMP-22

Alternative name(s):
Keratinocyte-associated protein 1
Short name=KCP-1
P53-induced protein PIGPC1
Transmembrane protein THW

Gene names

Name:	PERP
Synonyms:	KCP1, KRTCAP1, PIGPC1, THW

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	193 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway By similarity.
Subcellular location	Cell junction › desmosome. Cell membrane; Multi-pass membrane protein By similarity. Note: Associated with desmosomes By similarity.
Tissue specificity	Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts. Ref.2
Sequence similarities	Belongs to the TMEM47 family.

Ontologies

Keywords
Biological process	Apoptosis Cell adhesion
Cellular component	Cell junction Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	activation of cysteine-type endopeptidase activity Inferred from direct assay PubMed 18387192. Source: BHF-UCL apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW induction of apoptosis Inferred from electronic annotation. Source: Compara positive regulation of proteolysis Inferred from direct assay PubMed 18387192. Source: BHF-UCL
Cellular_component	Golgi apparatus Inferred from direct assay. Source: HPA cell junction Inferred from direct assay. Source: HPA desmosome Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Inferred from electronic annotation. Source: Compara mitochondrion Inferred from electronic annotation. Source: Compara nucleus Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 193	193	p53 apoptosis effector related to PMP-22		PRO_0000226994
Regions
	Transmembrane	12 – 32	21	Helical; Potential
	Transmembrane	79 – 99	21	Helical; Potential
	Transmembrane	110 – 130	21	Helical; Potential
	Transmembrane	151 – 171	21	Helical; Potential
Natural variations
	Natural variant	143	1	P → R. Ref.2 Ref.5 Corresponds to variant rs648802 [ dbSNP | Ensembl ].		VAR_052341
Experimental info
	Sequence conflict	4 – 7	4	Missing in BAC05205. Ref.4
	Sequence conflict	174	1	P → L in AAG35063. Ref.3
	Sequence conflict	178	1	D → E in BAC11390. Ref.5
	Sequence conflict	193	1	A → G in AAO13162. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q96FX8 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 69654E35C53B3FCE	FASTA	193	21,386
	10 20 30 40 50 60 MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK CSQEGGGSGS 70 80 90 100 110 120 YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC GPQMLVFLRV IGGLLALAAV 130 140 150 160 170 180 FQIISLVIYP VKYTQTFTLH ANPAVTYIYN WAYGFGWAAT IILIGCAFFF CCLPNYEDDL 190 LGNAKPRYFY TSA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of THW, a putative new tumor suppressor gene." Hildebrandt T., Preiherr J., Tarbe N., Klostermann S., van Muijen G.N.P., Weidle U. Anticancer Res. 20:2801-2809(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes." Bonkobara M., Das A., Takao J., Cruz P.D. Jr., Ariizumi K. Br. J. Dermatol. 148:654-664(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT ARG-143. Tissue: Keratinocyte.
[3]	"p53 regulates the expression of a novel four transmembrane protein --PERP/PIGPC1 in mouse and human prostate cancer." Goltsov A.A., Ren C., Wang J., Yang G., Tahir S., Li L., Timme T.L., Thompson T.C. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Prostatic carcinoma.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thymus.
[5]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-143. Tissue: Embryo and Placenta.
[6]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ251830 mRNA. Translation: CAC17766.1. AY157578 mRNA. Translation: AAO13162.1. AF317550 mRNA. Translation: AAG35063.1. AK097958 mRNA. Translation: BAC05205.1. AK074585 mRNA. Translation: BAC11074.1. AK075082 mRNA. Translation: BAC11390.1. AL355362, AL023582 Genomic DNA. Translation: CAI21518.1. AL023582, AL355362 Genomic DNA. Translation: CAI21563.1. CH471051 Genomic DNA. Translation: EAW47920.1. CH471051 Genomic DNA. Translation: EAW47921.1. BC010163 mRNA. Translation: AAH10163.1.
IPI	IPI00293189.
RefSeq	NP_071404.2. NM_022121.4.
UniGene	Hs.201446.
3D structure databases
ProteinModelPortal	Q96FX8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000397157.
Polymorphism databases
DMDM	74751865.
Proteomic databases
PaxDb	Q96FX8.
PRIDE	Q96FX8.
Protocols and materials databases
DNASU	64065.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000421351; ENSP00000397157; ENSG00000112378.
GeneID	64065.
KEGG	hsa:64065.
UCSC	uc003qht.2. human.
Organism-specific databases
CTD	64065.
GeneCards	GC06M138453.
H-InvDB	HIX0006250.
HGNC	HGNC:17637. PERP.
HPA	HPA022269.
MIM	609301. gene.
neXtProt	NX_Q96FX8.
PharmGKB	PA134944221.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG312475.
HOVERGEN	HBG061500.
InParanoid	Q96FX8.
KO	K10136.
OMA	QTFNLHA.
OrthoDB	EOG4WM4W0.
PhylomeDB	Q96FX8.
Gene expression databases
ArrayExpress	Q96FX8.
Bgee	Q96FX8.
CleanEx	HS_PERP.
Genevestigator	Q96FX8.
GermOnline	ENSG00000112378. Homo sapiens.
Family and domain databases
InterPro	IPR015664. P53_induced. IPR004031. PMP22/EMP/MP20/Claudin. [Graphical view]
PANTHER	PTHR14399. PTHR14399. 1 hit.
Pfam	PF00822. PMP22_Claudin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PERP. human.
GenomeRNAi	64065.
NextBio	65834.
SOURCE	Search...

Entry information

Entry name

PERP_HUMAN

Accession

Primary (citable) accession number: Q96FX8
Secondary accession number(s): E1P590 , Q8IWS3, Q8N1J6, Q8NC16, Q9H1C5, Q9H230

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 7, 2006
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.