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Preferentially expressed antigen in melanoma-like protein 7 (Prame-like 7)

 PRAL7_MOUSE             Reviewed;         479 AA.
Q810Y8; Q7TPY5;
05-JUL-2017, integrated into UniProtKB/Swiss-Prot.
01-JUN-2003, sequence version 1.
23-MAY-2018, entry version 86.
RecName: Full=Preferentially expressed antigen in melanoma-like protein 7 {ECO:0000312|MGI:MGI:2156391};
Short=Prame-like 7 {ECO:0000305};
Name=Pramel7 {ECO:0000312|MGI:MGI:2156391};
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
STAGE.
PubMed=12620990; DOI=10.1242/dev.00366;
Bortvin A., Eggan K., Skaletsky H., Akutsu H., Berry D.L.,
Yanagimachi R., Page D.C., Jaenisch R.;
"Incomplete reactivation of Oct4-related genes in mouse embryos cloned
from somatic nuclei.";
Development 130:1673-1680(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J {ECO:0000312|Proteomes:UP000000589};
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
Lindblad-Toh K., Eichler E.E., Ponting C.P.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-479.
STRAIN=C57BL/6J {ECO:0000312|EMBL:AAH52825.1};
TISSUE=Blastocyst {ECO:0000312|EMBL:AAH52825.1};
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
FUNCTION, AND DEVELOPMENTAL STAGE.
PubMed=21425410; DOI=10.1002/stem.588;
Casanova E.A., Shakhova O., Patel S.S., Asner I.N., Pelczar P.,
Weber F.A., Graf U., Sommer L., Buerki K., Cinelli P.;
"Pramel7 mediates LIF/STAT3-dependent self-renewal in embryonic stem
cells.";
Stem Cells 29:474-485(2011).
[5]
FUNCTION, INTERACTION WITH UHRF1, AND DISRUPTION PHENOTYPE.
PubMed=28604677; DOI=10.1038/ncb3554;
Graf U., Casanova E.A., Wyck S., Dalcher D., Gatti M.,
Vollenweider E., Okoniewski M.J., Weber F.A., Patel S.S., Schmid M.W.,
Li J., Sharif J., Wanner G.A., Koseki H., Wong J., Pelczar P.,
Penengo L., Santoro R., Cinelli P.;
"Pramel7 mediates ground-state pluripotency through proteasomal-
epigenetic combined pathways.";
Nat. Cell Biol. 19:763-773(2017).
-!- FUNCTION: Promotes maintenance and self-renewal of pluripotent
embryonic stem cells (ESCs), downstream of LIF/STAT3
(PubMed:21425410). Maintains the pluripotency state of ESCs by
repressing DNA methylation through the regulation of UHRF1
stability. Mediates the proteasomal degradation of UHRF1. Is
required for the establishment of the blastocyst
(PubMed:28604677). {ECO:0000269|PubMed:21425410,
ECO:0000269|PubMed:28604677}.
-!- SUBUNIT: Interacts with UHRF1. {ECO:0000269|PubMed:28604677}.
-!- TISSUE SPECIFICITY: Seems to be specific to pluripotent tissues in
the early embryo. Not detected in somatic tissues.
{ECO:0000269|PubMed:12620990}.
-!- DEVELOPMENTAL STAGE: Expressed in early embryos at the 4-cell,
blastocyst (3.5 dpc) and epiblast (7 dpc) stages (PubMed:12620990,
PubMed:21425410). Expression is restricted to the interior part of
the morula and the inner cell mass (ICM) of the blastocyst
(PubMed:21425410). Detected in primordial germ cells (at 10 dpc)
and undifferentiated embryonic stem cells (PubMed:12620990,
PubMed:21425410). {ECO:0000269|PubMed:12620990,
ECO:0000269|PubMed:21425410}.
-!- DISRUPTION PHENOTYPE: Embryonic lethality due to a developmental
arrest during the establishment of the blastocyst.
{ECO:0000269|PubMed:28604677}.
-!- SIMILARITY: Belongs to the PRAME family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH52825.1; Type=Frameshift; Positions=51; Evidence={ECO:0000305};
Sequence=AAH52825.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
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EMBL; AF490343; AAO84501.1; -; mRNA.
EMBL; AL928797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC052825; AAH52825.1; ALT_SEQ; mRNA.
CCDS; CCDS16293.1; -.
RefSeq; NP_839981.1; NM_178250.2.
UniGene; Mm.6018; -.
STRING; 10090.ENSMUSP00000026957; -.
iPTMnet; Q810Y8; -.
PhosphoSitePlus; Q810Y8; -.
PaxDb; Q810Y8; -.
PRIDE; Q810Y8; -.
Ensembl; ENSMUST00000026957; ENSMUSP00000026957; ENSMUSG00000025839.
GeneID; 347712; -.
KEGG; mmu:347712; -.
UCSC; uc008koa.1; mouse.
CTD; 347712; -.
MGI; MGI:2156391; Pramel7.
GeneTree; ENSGT00760000119028; -.
HOGENOM; HOG000231112; -.
HOVERGEN; HBG006326; -.
OMA; TTEMYPA; -.
OrthoDB; EOG091G0T0G; -.
TreeFam; TF332708; -.
PRO; PR:Q810Y8; -.
Proteomes; UP000000589; Chromosome 2.
Bgee; ENSMUSG00000025839; -.
GO; GO:0001825; P:blastocyst formation; IMP:UniProtKB.
GO; GO:0043066; P:negative regulation of apoptotic process; IEA:InterPro.
GO; GO:0045596; P:negative regulation of cell differentiation; IEA:InterPro.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IEA:InterPro.
GO; GO:0008284; P:positive regulation of cell proliferation; IEA:InterPro.
GO; GO:0070372; P:regulation of ERK1 and ERK2 cascade; IDA:MGI.
GO; GO:0019827; P:stem cell population maintenance; IDA:UniProtKB.
Gene3D; 3.80.10.10; -; 1.
InterPro; IPR032675; LRR_dom_sf.
InterPro; IPR026271; PRAME_family.
PIRSF; PIRSF038286; PRAME; 1.
1: Evidence at protein level;
Complete proteome; Leucine-rich repeat; Reference proteome; Repeat.
CHAIN 1 479 Preferentially expressed antigen in
melanoma-like protein 7.
/FTId=PRO_0000440672.
REPEAT 96 124 LRR 1; degenerate.
{ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 179 203 LRR 2; degenerate.
{ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 204 230 LRR 3; degenerate.
{ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 231 265 LRR 4; degenerate.
{ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 266 291 LRR 5. {ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 292 323 LRR 6. {ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 324 347 LRR 7. {ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 348 375 LRR 8. {ECO:0000250|UniProtKB:Q3UWY1}.
REPEAT 376 400 LRR 9. {ECO:0000250|UniProtKB:Q3UWY1}.
CONFLICT 103 103 D -> G (in Ref. 3; AAH52825).
{ECO:0000305}.
CONFLICT 370 370 L -> P (in Ref. 3; AAH52825).
{ECO:0000305}.
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


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