PRNT_HUMAN
ID PRNT_HUMAN Reviewed; 94 AA.
AC Q86SH4; B2RPD9; B7ZBI9;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 85.
DE RecName: Full=Putative testis-specific prion protein;
DE AltName: Full=Protein M8;
DE Flags: Precursor;
GN Name=PRNT;
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], AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=12514748; DOI=10.1007/s00335-002-3043-0;
RA Makrinou E., Collinge J., Antoniou M.;
RT "Genomic characterization of the human prion protein (PrP) gene locus.";
RL Mamm. Genome 13:696-703(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
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 [4]
RP PHYLOGENY.
RX PubMed=16460908; DOI=10.1016/j.ygeno.2005.12.012;
RA Choi S.-H., Kim I.-C., Kim D.-S., Kim D.-W., Chae S.-H., Choi H.-H.,
RA Choi I., Yeo J.-S., Song M.-N., Park H.-S.;
RT "Comparative genomic organization of the human and bovine PRNP locus.";
RL Genomics 87:598-607(2006).
RN [5]
RP PHYLOGENY.
RX PubMed=17562432; DOI=10.1016/j.bbadis.2007.05.001;
RA Watts J.C., Westaway D.;
RT "The prion protein family: diversity, rivalry, and dysfunction.";
RL Biochim. Biophys. Acta 1772:654-672(2007).
RN [6]
RP PHYLOGENY.
RX PubMed=17199895; DOI=10.1186/1471-2164-8-1;
RA Premzl M., Gamulin V.;
RT "Comparative genomic analysis of prion genes.";
RL BMC Genomics 8:1-1(2007).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in adult testis.
CC {ECO:0000269|PubMed:12514748}.
CC -!- MISCELLANEOUS: This putative protein is only present in primates and
CC not in other mammals.
CC -!- CAUTION: Could be the product of a pseudogene. According to
CC PubMed:17562432, no evidence has been tendered concerning the existence
CC of this protein. {ECO:0000305}.
CC -!- CAUTION: According to PubMed:12514748, it is related to the prion
CC family because it is found in the same genomic cluster as PRNP and
CC PRND. However, it does not share any sequence similarity with these 2
CC proteins. {ECO:0000305}.
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DR EMBL; AJ427539; CAD20690.1; -; mRNA.
DR EMBL; AJ427540; CAD20691.1; -; mRNA.
DR EMBL; AL133396; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471133; EAX10447.1; -; Genomic_DNA.
DR AlphaFoldDB; Q86SH4; -.
DR STRING; 9606.ENSP00000321242; -.
DR GlyGen; Q86SH4; 1 site.
DR BioMuta; PRNT; -.
DR PaxDb; Q86SH4; -.
DR PRIDE; Q86SH4; -.
DR UCSC; uc002wlb.4; human.
DR GeneCards; PRNT; -.
DR HGNC; HGNC:18046; PRNT.
DR neXtProt; NX_Q86SH4; -.
DR eggNOG; ENOG502TF9M; Eukaryota.
DR HOGENOM; CLU_2385552_0_0_1; -.
DR PhylomeDB; Q86SH4; -.
DR Pharos; Q86SH4; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q86SH4; protein.
DR Genevisible; Q86SH4; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR029172; PRNT.
DR Pfam; PF15174; PRNT; 1.
PE 5: Uncertain;
KW Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..94
FT /note="Putative testis-specific prion protein"
FT /id="PRO_0000320163"
FT CARBOHYD 44
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 50
FT /note="T -> S (in dbSNP:rs7270737)"
FT /id="VAR_039151"
SQ SEQUENCE 94 AA; 10756 MW; 7A6726D67325D115 CRC64;
MQHSLVFFFA VILHLSHLLH LDASIHPFRL PFSSKPFLLI PMSNTTLPHT AWPLSFLHQT
VSTLKAVAVT HSLWHLQIPV DCQACNRKSK KIYC