PRAL7_MOUSE
ID PRAL7_MOUSE Reviewed; 479 AA.
AC Q810Y8; Q7TPY5;
DT 05-JUL-2017, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Preferentially expressed antigen in melanoma-like protein 7 {ECO:0000312|MGI:MGI:2156391};
DE Short=Prame-like 7 {ECO:0000305};
GN Name=Pramel7 {ECO:0000312|MGI:MGI:2156391};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=12620990; DOI=10.1242/dev.00366;
RA Bortvin A., Eggan K., Skaletsky H., Akutsu H., Berry D.L., Yanagimachi R.,
RA Page D.C., Jaenisch R.;
RT "Incomplete reactivation of Oct4-related genes in mouse embryos cloned from
RT somatic nuclei.";
RL Development 130:1673-1680(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J {ECO:0000312|Proteomes:UP000000589};
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-479.
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:AAH52825.1};
RC TISSUE=Blastocyst {ECO:0000312|EMBL:AAH52825.1};
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 [4]
RP FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=21425410; DOI=10.1002/stem.588;
RA Casanova E.A., Shakhova O., Patel S.S., Asner I.N., Pelczar P., Weber F.A.,
RA Graf U., Sommer L., Buerki K., Cinelli P.;
RT "Pramel7 mediates LIF/STAT3-dependent self-renewal in embryonic stem
RT cells.";
RL Stem Cells 29:474-485(2011).
RN [5]
RP FUNCTION, INTERACTION WITH UHRF1, AND DISRUPTION PHENOTYPE.
RX PubMed=28604677; DOI=10.1038/ncb3554;
RA Graf U., Casanova E.A., Wyck S., Dalcher D., Gatti M., Vollenweider E.,
RA Okoniewski M.J., Weber F.A., Patel S.S., Schmid M.W., Li J., Sharif J.,
RA Wanner G.A., Koseki H., Wong J., Pelczar P., Penengo L., Santoro R.,
RA Cinelli P.;
RT "Pramel7 mediates ground-state pluripotency through proteasomal-epigenetic
RT combined pathways.";
RL Nat. Cell Biol. 19:763-773(2017).
CC -!- FUNCTION: Promotes maintenance and self-renewal of pluripotent
CC embryonic stem cells (ESCs), downstream of LIF/STAT3 (PubMed:21425410).
CC Maintains the pluripotency state of ESCs by repressing DNA methylation
CC through the regulation of UHRF1 stability. Mediates the proteasomal
CC degradation of UHRF1. Is required for the establishment of the
CC blastocyst (PubMed:28604677). {ECO:0000269|PubMed:21425410,
CC ECO:0000269|PubMed:28604677}.
CC -!- SUBUNIT: Interacts with UHRF1. {ECO:0000269|PubMed:28604677}.
CC -!- TISSUE SPECIFICITY: Seems to be specific to pluripotent tissues in the
CC early embryo. Not detected in somatic tissues.
CC {ECO:0000269|PubMed:12620990}.
CC -!- DEVELOPMENTAL STAGE: Expressed in early embryos at the 4-cell,
CC blastocyst (3.5 dpc) and epiblast (7 dpc) stages (PubMed:12620990,
CC PubMed:21425410). Expression is restricted to the interior part of the
CC morula and the inner cell mass (ICM) of the blastocyst
CC (PubMed:21425410). Detected in primordial germ cells (at 10 dpc) and
CC undifferentiated embryonic stem cells (PubMed:12620990,
CC PubMed:21425410). {ECO:0000269|PubMed:12620990,
CC ECO:0000269|PubMed:21425410}.
CC -!- DISRUPTION PHENOTYPE: Embryonic lethality due to a developmental arrest
CC during the establishment of the blastocyst.
CC {ECO:0000269|PubMed:28604677}.
CC -!- SIMILARITY: Belongs to the PRAME family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH52825.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH52825.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
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DR EMBL; AF490343; AAO84501.1; -; mRNA.
DR EMBL; AL928797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC052825; AAH52825.1; ALT_SEQ; mRNA.
DR CCDS; CCDS16293.1; -.
DR RefSeq; NP_839981.1; NM_178250.2.
DR AlphaFoldDB; Q810Y8; -.
DR SMR; Q810Y8; -.
DR STRING; 10090.ENSMUSP00000026957; -.
DR iPTMnet; Q810Y8; -.
DR PhosphoSitePlus; Q810Y8; -.
DR PaxDb; Q810Y8; -.
DR PRIDE; Q810Y8; -.
DR ProteomicsDB; 291550; -.
DR DNASU; 347712; -.
DR Ensembl; ENSMUST00000026957; ENSMUSP00000026957; ENSMUSG00000025839.
DR GeneID; 347712; -.
DR KEGG; mmu:347712; -.
DR UCSC; uc008koa.1; mouse.
DR CTD; 347712; -.
DR MGI; MGI:2156391; Pramel7.
DR VEuPathDB; HostDB:ENSMUSG00000025839; -.
DR eggNOG; ENOG502QWSJ; Eukaryota.
DR GeneTree; ENSGT01030000234531; -.
DR HOGENOM; CLU_039635_2_1_1; -.
DR InParanoid; Q810Y8; -.
DR OMA; TTEMYPA; -.
DR OrthoDB; 576657at2759; -.
DR PhylomeDB; Q810Y8; -.
DR TreeFam; TF332708; -.
DR BioGRID-ORCS; 347712; 1 hit in 72 CRISPR screens.
DR ChiTaRS; Pramel7; mouse.
DR PRO; PR:Q810Y8; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q810Y8; protein.
DR Bgee; ENSMUSG00000025839; Expressed in cleaving embryo and 6 other tissues.
DR GO; GO:0031462; C:Cul2-RING ubiquitin ligase complex; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:1990756; F:ubiquitin ligase-substrate adaptor activity; ISO:MGI.
DR GO; GO:0001825; P:blastocyst formation; IMP:UniProtKB.
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 GO; GO:0070372; P:regulation of ERK1 and ERK2 cascade; IDA:MGI.
DR GO; GO:0035019; P:somatic stem cell population maintenance; IDA:MGI.
DR GO; GO:0019827; P:stem cell population maintenance; IDA:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR026271; PRAME_family.
DR PIRSF; PIRSF038286; PRAME; 1.
PE 1: Evidence at protein level;
KW Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..479
FT /note="Preferentially expressed antigen in melanoma-like
FT protein 7"
FT /id="PRO_0000440672"
FT REPEAT 96..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..347
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 CONFLICT 103
FT /note="D -> G (in Ref. 3; AAH52825)"
FT /evidence="ECO:0000305"
FT CONFLICT 370
FT /note="L -> P (in Ref. 3; AAH52825)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 479 AA; 55834 MW; 65675669563A8674 CRC64;
MVSAPPTLQD QAFRSLVRNE VLTVSDAECL IREFFPPLFK EASTQKKPKT IMILVEHWPY
PCLHVGLLID KPNFQIFQAI LDGVDTWLKR KYRPRMGRLK KVDFRDAQHH ASLDMQDERE
GRDYLVGTLP KKQIVEDHSR TRKERLKLFH DLSFMSSLHE DKHQTLLLEW AKERTSFLHL
CCEKLEIGAV EVSKVRNVLK FLQPELIKEL KLNTVGNLSK LAKFVPFIRK MRNLQKLMLV
RTFGTRTFTQ EEKQNISKII SLFCKLSCLR HLTIDDVYFL TDQMKELLRC LEAPLVSLKI
TLCQLSQSDL ESFAQRWNYS QLKHLCLRGV TLTNLDVTPL RDFLKRVAAN LQTLDLEDCR
MDDSHFRTLL PALIKCTQLT SINLYDNDIS EDVLENFLHR TTNLSQLTTE MYPAPSEVYN
ESNYVIVEIF IQICSELMNK LMEVRQANSV CFGSSSCYDC DNRYLYEDDG DVTLCLCQE
