PERP_HUMAN
ID PERP_HUMAN Reviewed; 193 AA.
AC Q96FX8; B2RB73; E1P590; Q8IWS3; Q8N1J6; Q8NC16; Q9H1C5; Q9H230;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=p53 apoptosis effector related to PMP-22;
DE AltName: Full=Keratinocyte-associated protein 1 {ECO:0000303|PubMed:12752121};
DE Short=KCP-1 {ECO:0000303|PubMed:12752121};
DE AltName: Full=P53-induced protein PIGPC1;
DE AltName: Full=Transmembrane protein THW {ECO:0000303|PubMed:11062687};
GN Name=PERP;
GN Synonyms=KCP1, KRTCAP1 {ECO:0000303|PubMed:12752121}, PIGPC1, THW;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=11062687;
RA Hildebrandt T., Preiherr J., Tarbe N., Klostermann S., van Muijen G.N.P.,
RA Weidle U.;
RT "Identification of THW, a putative new tumor suppressor gene.";
RL Anticancer Res. 20:2801-2809(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT ARG-143.
RC TISSUE=Keratinocyte;
RX PubMed=12752121; DOI=10.1046/j.1365-2133.2003.05244.x;
RA Bonkobara M., Das A., Takao J., Cruz P.D. Jr., Ariizumi K.;
RT "Identification of novel genes for secreted and membrane-anchored proteins
RT in human keratinocytes.";
RL Br. J. Dermatol. 148:654-664(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT LEU-174.
RC TISSUE=Prostatic carcinoma;
RA Goltsov A.A., Ren C., Wang J., Yang G., Tahir S., Li L., Timme T.L.,
RA Thompson T.C.;
RT "p53 regulates the expression of a novel four transmembrane protein
RT -- PERP/PIGPC1 in mouse and human prostate cancer.";
RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-174.
RC TISSUE=Thymus, and Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-143.
RC TISSUE=Embryo, and Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP INVOLVEMENT IN EKVP7, INVOLVEMENT IN OLMS2, VARIANTS OLMS2 151-TRP--ALA-193
RP DEL AND 153-TYR--ALA-193 DEL, AND CHARACTERIZATION OF VARIANT OLMS2
RP 153-TYR--ALA-193 DEL.
RX PubMed=30321533; DOI=10.1016/j.jid.2018.08.026;
RA Duchatelet S., Boyden L.M., Ishida-Yamamoto A., Zhou J., Guibbal L., Hu R.,
RA Lim Y.H., Bole-Feysot C., Nitschke P., Santos-Simarro F., de Lucas R.,
RA Milstone L.M., Gildenstern V., Helfrich Y.R., Attardi L.D., Lifton R.P.,
RA Choate K.A., Hovnanian A.;
RT "Mutations in PERP Cause Dominant and Recessive Keratoderma.";
RL J. Invest. Dermatol. 139:380-390(2019).
RN [10]
RP INVOLVEMENT IN OLMS2, AND VARIANT OLMS2 153-TYR--ALA-193 DEL.
RX PubMed=31361044; DOI=10.1111/bjd.18311;
RA Dai S., Sun Z., Lee M., Wang H., Yang Y., Lin Z.;
RT "Olmsted syndrome with alopecia universalis caused by heterozygous mutation
RT in PERP.";
RL Br. J. Dermatol. 182:242-244(2020).
RN [11]
RP VARIANT EKVP7 ARG-156, AND SUBCELLULAR LOCATION.
RX PubMed=31898316; DOI=10.1111/cge.13699;
RA Patel N., Alkeraye S., Alobeid E., Alshidi T., Helaby R., Abdulwahab F.,
RA Shamseldin H.E., Alkuraya F.S.;
RT "Confirming the recessive inheritance of PERP-related erythrokeratoderma.";
RL Clin. Genet. 97:661-665(2020).
CC -!- FUNCTION: Component of intercellular desmosome junctions. Plays a role
CC in stratified epithelial integrity and cell-cell adhesion by promoting
CC desmosome assembly. {ECO:0000250|UniProtKB:Q9JK95}.
CC -!- FUNCTION: Plays a role as an effector in the TP53-dependent apoptotic
CC pathway. {ECO:0000250|UniProtKB:Q9JK95}.
CC -!- INTERACTION:
CC Q96FX8; O95870: ABHD16A; NbExp=3; IntAct=EBI-17183069, EBI-348517;
CC Q96FX8; P14136: GFAP; NbExp=3; IntAct=EBI-17183069, EBI-744302;
CC Q96FX8; P28799: GRN; NbExp=3; IntAct=EBI-17183069, EBI-747754;
CC Q96FX8; P04792: HSPB1; NbExp=3; IntAct=EBI-17183069, EBI-352682;
CC Q96FX8; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-17183069, EBI-1055254;
CC Q96FX8; O60333-2: KIF1B; NbExp=3; IntAct=EBI-17183069, EBI-10975473;
CC Q96FX8; P21145: MAL; NbExp=3; IntAct=EBI-17183069, EBI-3932027;
CC Q96FX8; O76024: WFS1; NbExp=3; IntAct=EBI-17183069, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Cell junction, desmosome
CC {ECO:0000250|UniProtKB:Q9JK95}. Cell membrane
CC {ECO:0000269|PubMed:30321533, ECO:0000269|PubMed:31898316}; Multi-pass
CC membrane protein {ECO:0000255}. Note=Associated with desmosomes (By
CC similarity). Colocalizes with KRT14 in the cell membrane
CC (PubMed:31898316). {ECO:0000250|UniProtKB:Q9JK95,
CC ECO:0000269|PubMed:31898316}.
CC -!- TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver,
CC pancreas, keratinocytes and dermal fibroblasts.
CC {ECO:0000269|PubMed:12752121}.
CC -!- DISEASE: Erythrokeratodermia variabilis et progressiva 7 (EKVP7)
CC [MIM:619209]: A form of erythrokeratodermia variabilis et progressiva,
CC a genodermatosis characterized by the coexistence of two independent
CC skin lesions: transient erythema and hyperkeratosis that is usually
CC localized but occasionally occurs in its generalized form. Clinical
CC presentation varies significantly within a family and from one family
CC to another. Palmoplantar keratoderma is present in around 50% of cases.
CC EKVP7 is an autosomal recessive form characterized by palmoplantar
CC keratoderma that extends to the dorsal surface of the hands and feet,
CC as well as erythematous annular skin lesions. Pruritus, woolly hair,
CC and dystrophic nails may also be present. {ECO:0000269|PubMed:30321533,
CC ECO:0000269|PubMed:31898316}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Olmsted syndrome 2 (OLMS2) [MIM:619208]: A form of Olmsted
CC syndrome, a rare congenital disorder characterized by bilateral
CC mutilating palmoplantar keratoderma and periorificial keratotic plaques
CC with severe itching at all lesions. Diffuse alopecia, constriction of
CC digits, and onychodystrophy have also been reported. Infections and
CC squamous cell carcinomas can arise on the keratotic areas. The digital
CC constriction may progress to autoamputation of fingers and toes. OLMS2
CC is an autosomal dominant form with onset in the first months of life or
CC in early childhood. {ECO:0000269|PubMed:30321533,
CC ECO:0000269|PubMed:31361044}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM47 family. {ECO:0000305}.
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DR EMBL; AJ251830; CAC17766.1; -; mRNA.
DR EMBL; AY157578; AAO13162.1; -; mRNA.
DR EMBL; AF317550; AAG35063.1; -; mRNA.
DR EMBL; AK097958; BAC05205.1; -; mRNA.
DR EMBL; AK074585; BAC11074.1; -; mRNA.
DR EMBL; AK075082; BAC11390.1; -; mRNA.
DR EMBL; AK314526; BAG37120.1; -; mRNA.
DR EMBL; AL355362; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL023582; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW47920.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW47921.1; -; Genomic_DNA.
DR EMBL; BC010163; AAH10163.1; -; mRNA.
DR CCDS; CCDS5188.1; -.
DR RefSeq; NP_071404.2; NM_022121.4.
DR AlphaFoldDB; Q96FX8; -.
DR SMR; Q96FX8; -.
DR BioGRID; 122038; 3.
DR IntAct; Q96FX8; 8.
DR STRING; 9606.ENSP00000397157; -.
DR TCDB; 8.A.16.4.3; the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.
DR iPTMnet; Q96FX8; -.
DR PhosphoSitePlus; Q96FX8; -.
DR SwissPalm; Q96FX8; -.
DR BioMuta; PERP; -.
DR DMDM; 74751865; -.
DR EPD; Q96FX8; -.
DR jPOST; Q96FX8; -.
DR MassIVE; Q96FX8; -.
DR MaxQB; Q96FX8; -.
DR PaxDb; Q96FX8; -.
DR PeptideAtlas; Q96FX8; -.
DR PRIDE; Q96FX8; -.
DR ProteomicsDB; 76571; -.
DR ABCD; Q96FX8; 15 sequenced antibodies.
DR Antibodypedia; 19785; 227 antibodies from 35 providers.
DR DNASU; 64065; -.
DR Ensembl; ENST00000421351.4; ENSP00000397157.2; ENSG00000112378.12.
DR GeneID; 64065; -.
DR KEGG; hsa:64065; -.
DR MANE-Select; ENST00000421351.4; ENSP00000397157.2; NM_022121.5; NP_071404.2.
DR UCSC; uc003qht.3; human.
DR CTD; 64065; -.
DR DisGeNET; 64065; -.
DR GeneCards; PERP; -.
DR HGNC; HGNC:17637; PERP.
DR HPA; ENSG00000112378; Group enriched (esophagus, salivary gland, skin, vagina).
DR MalaCards; PERP; -.
DR MIM; 609301; gene.
DR MIM; 619208; phenotype.
DR MIM; 619209; phenotype.
DR neXtProt; NX_Q96FX8; -.
DR OpenTargets; ENSG00000112378; -.
DR Orphanet; 659; Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
DR PharmGKB; PA134944221; -.
DR VEuPathDB; HostDB:ENSG00000112378; -.
DR eggNOG; KOG4671; Eukaryota.
DR GeneTree; ENSGT00530000063484; -.
DR HOGENOM; CLU_120054_0_0_1; -.
DR InParanoid; Q96FX8; -.
DR OMA; ASMWEQC; -.
DR OrthoDB; 1307601at2759; -.
DR PhylomeDB; Q96FX8; -.
DR TreeFam; TF312855; -.
DR PathwayCommons; Q96FX8; -.
DR Reactome; R-HSA-6803205; TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q96FX8; -.
DR SIGNOR; Q96FX8; -.
DR BioGRID-ORCS; 64065; 36 hits in 1073 CRISPR screens.
DR ChiTaRS; PERP; human.
DR GeneWiki; PERP; -.
DR GenomeRNAi; 64065; -.
DR Pharos; Q96FX8; Tbio.
DR PRO; PR:Q96FX8; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q96FX8; protein.
DR Bgee; ENSG00000112378; Expressed in penis and 196 other tissues.
DR Genevisible; Q96FX8; HS.
DR GO; GO:0005911; C:cell-cell junction; IBA:GO_Central.
DR GO; GO:0030057; C:desmosome; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IEA:Ensembl.
DR GO; GO:0005739; C:mitochondrion; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0097202; P:activation of cysteine-type endopeptidase activity; IDA:BHF-UCL.
DR GO; GO:0097186; P:amelogenesis; IEA:Ensembl.
DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central.
DR GO; GO:0002934; P:desmosome organization; IEA:Ensembl.
DR GO; GO:0034113; P:heterotypic cell-cell adhesion; IEA:Ensembl.
DR GO; GO:0072332; P:intrinsic apoptotic signaling pathway by p53 class mediator; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
DR GO; GO:0045862; P:positive regulation of proteolysis; IDA:BHF-UCL.
DR InterPro; IPR015664; P53_induced.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR PANTHER; PTHR14399; PTHR14399; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
PE 1: Evidence at protein level;
KW Apoptosis; Cell adhesion; Cell junction; Cell membrane; Disease variant;
KW Membrane; Palmoplantar keratoderma; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..193
FT /note="p53 apoptosis effector related to PMP-22"
FT /id="PRO_0000226994"
FT TRANSMEM 12..32
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 79..99
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 151..171
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 143
FT /note="P -> R (in dbSNP:rs648802)"
FT /evidence="ECO:0000269|PubMed:12752121,
FT ECO:0000269|PubMed:16303743"
FT /id="VAR_052341"
FT VARIANT 151..193
FT /note="Missing (in OLMS2)"
FT /evidence="ECO:0000269|PubMed:30321533"
FT /id="VAR_085248"
FT VARIANT 153..193
FT /note="Missing (in OLMS2; keratinocytes from patient show
FT normal PERP membrane localization)"
FT /evidence="ECO:0000269|PubMed:30321533,
FT ECO:0000269|PubMed:31361044"
FT /id="VAR_085249"
FT VARIANT 156
FT /note="G -> R (in EKVP7; patient cells show a change in the
FT subcellular location pattern; does not associate with cell
FT membrane; diffuse location into the cytoplasm)"
FT /evidence="ECO:0000269|PubMed:31898316"
FT /id="VAR_085250"
FT VARIANT 174
FT /note="P -> L (in dbSNP:rs75183345)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3"
FT /id="VAR_070891"
FT CONFLICT 4..7
FT /note="Missing (in Ref. 4; BAC05205)"
FT /evidence="ECO:0000305"
FT CONFLICT 178
FT /note="D -> E (in Ref. 5; BAC11390)"
FT /evidence="ECO:0000305"
FT CONFLICT 193
FT /note="A -> G (in Ref. 2; AAO13162)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 193 AA; 21386 MW; 69654E35C53B3FCE CRC64;
MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK CSQEGGGSGS
YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC GPQMLVFLRV IGGLLALAAV
FQIISLVIYP VKYTQTFTLH ANPAVTYIYN WAYGFGWAAT IILIGCAFFF CCLPNYEDDL
LGNAKPRYFY TSA
