PRAM1_HUMAN
ID PRAM1_HUMAN Reviewed; 474 AA.
AC O95521; Q9UQP2;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2016, sequence version 3.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=PRAME family member 1 {ECO:0000305};
GN Name=PRAMEF1 {ECO:0000312|HGNC:HGNC:28840};
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 VARIANTS GLN-252 AND ALA-372.
RA Rhodes S.;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
CC -!- SIMILARITY: Belongs to the PRAME family. {ECO:0000305}.
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DR EMBL; AL049686; CAB41257.1; -; mRNA.
DR EMBL; AC244670; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL022101; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL023753; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS148.1; -.
DR RefSeq; NP_075389.2; NM_023013.4.
DR AlphaFoldDB; O95521; -.
DR SMR; O95521; -.
DR STRING; 9606.ENSP00000332134; -.
DR iPTMnet; O95521; -.
DR PhosphoSitePlus; O95521; -.
DR BioMuta; PRAMEF1; -.
DR MassIVE; O95521; -.
DR PaxDb; O95521; -.
DR PeptideAtlas; O95521; -.
DR PRIDE; O95521; -.
DR ProteomicsDB; 50933; -.
DR Antibodypedia; 68093; 88 antibodies from 10 providers.
DR DNASU; 65121; -.
DR Ensembl; ENST00000332296.7; ENSP00000332134.7; ENSG00000116721.9.
DR GeneID; 65121; -.
DR KEGG; hsa:65121; -.
DR MANE-Select; ENST00000332296.7; ENSP00000332134.7; NM_023013.4; NP_075389.2.
DR UCSC; uc031tpg.1; human.
DR CTD; 65121; -.
DR GeneCards; PRAMEF1; -.
DR HGNC; HGNC:28840; PRAMEF1.
DR HPA; ENSG00000116721; Not detected.
DR neXtProt; NX_O95521; -.
DR OpenTargets; ENSG00000116721; -.
DR PharmGKB; PA142671138; -.
DR VEuPathDB; HostDB:ENSG00000116721; -.
DR eggNOG; ENOG502QWSJ; Eukaryota.
DR GeneTree; ENSGT01030000234531; -.
DR HOGENOM; CLU_039635_2_1_1; -.
DR InParanoid; O95521; -.
DR OMA; HMVLTQK; -.
DR OrthoDB; 631249at2759; -.
DR TreeFam; TF332708; -.
DR PathwayCommons; O95521; -.
DR BioGRID-ORCS; 65121; 23 hits in 982 CRISPR screens.
DR GenomeRNAi; 65121; -.
DR Pharos; O95521; Tdark.
DR PRO; PR:O95521; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O95521; protein.
DR Bgee; ENSG00000116721; Expressed in right testis and 2 other tissues.
DR Genevisible; O95521; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IEA:InterPro.
DR GO; GO:0045596; P:negative regulation of cell differentiation; IEA:InterPro.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IEA:InterPro.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IEA:InterPro.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR026271; PRAME_family.
DR PIRSF; PIRSF038286; PRAME; 1.
PE 2: Evidence at transcript level;
KW Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..474
FT /note="PRAME family member 1"
FT /id="PRO_0000156975"
FT REPEAT 97..124
FT /note="LRR 1; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 179..203
FT /note="LRR 2; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 204..230
FT /note="LRR 3; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 231..265
FT /note="LRR 4; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 266..291
FT /note="LRR 5"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 292..323
FT /note="LRR 6"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 324..342
FT /note="LRR 7"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 348..375
FT /note="LRR 8"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 376..400
FT /note="LRR 9"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT VARIANT 204
FT /note="L -> M (in dbSNP:rs1063767)"
FT /id="VAR_053604"
FT VARIANT 213
FT /note="R -> H (in dbSNP:rs1063769)"
FT /id="VAR_062138"
FT VARIANT 218
FT /note="P -> S (in dbSNP:rs1769774)"
FT /id="VAR_060091"
FT VARIANT 252
FT /note="E -> Q (in dbSNP:rs1063776)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_034396"
FT VARIANT 302
FT /note="Y -> C (in dbSNP:rs5003730)"
FT /id="VAR_034397"
FT VARIANT 372
FT /note="G -> A (in dbSNP:rs1063795)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_060092"
FT VARIANT 386
FT /note="R -> S (in dbSNP:rs1052908)"
FT /id="VAR_053605"
SQ SEQUENCE 474 AA; 55149 MW; 1AB24ED3783A6ECC CRC64;
MSIQAPPRLL ELAGQSLLRD QALSISAMEE LPRVLYLPLF MEAFSRRHFQ TLTVMVQAWP
FTCLPLGSLM KTLHLETLKA LLEGLHMLLT QKDRPRRWKL QVLDLRDVDE NFWARWPGAW
ALSCFPETTS KRQTAEDCPR MGEHQPLKVF IDICLKEIPQ DECLRYLFQW VYQRRGLVHL
CCSKLVNYLT PIKYLRKSLK IIYLNSIQEL EIRNMSWPRL IRKLRCYLKE MKNLRKLVFS
RCHHYTSDNE LEGRLVAKFS SVFLRLEHLQ LLKIKLITFF SGHLEQLIRC LQNPLENLEL
TYGYLLEEDM KCLSQYPSLG YLKHLNLSYV LLFRISLEPL GALLEKIAAS LKTLILEGCQ
IHYSQLSAIL PGLSRCSQLT TFYFGRNCMS IDALKDLLRH TSGLSKLSLE TYPAPEESLN
SLVRVNWEIF TPLRAELMCT LREVRQPKRI FIGPTPCPSC GSSPSEELEL HLCC
