PATL2_HUMAN
ID PATL2_HUMAN Reviewed; 543 AA.
AC C9JE40;
DT 08-FEB-2011, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 1.
DT 03-AUG-2022, entry version 88.
DE RecName: Full=Protein PAT1 homolog 2;
DE AltName: Full=PAT1-like protein 2;
DE AltName: Full=Protein PAT1 homolog a;
DE Short=Pat1a;
DE Short=hPat1a;
GN Name=PATL2;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [2]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH LSM1.
RX PubMed=20584987; DOI=10.1128/mcb.00429-10;
RA Ozgur S., Chekulaeva M., Stoecklin G.;
RT "Human Pat1b connects deadenylation with mRNA decapping and controls the
RT assembly of processing bodies.";
RL Mol. Cell. Biol. 30:4308-4323(2010).
RN [3]
RP INVOLVEMENT IN OOMD4, AND VARIANTS OOMD4 160-ARG--TYR-543 DEL AND ARG-370.
RX PubMed=28965844; DOI=10.1016/j.ajhg.2017.08.009;
RA Maddirevula S., Coskun S., Alhassan S., Elnour A., Alsaif H.S., Ibrahim N.,
RA Abdulwahab F., Arold S.T., Alkuraya F.S.;
RT "Female infertility caused by mutations in the oocyte-specific
RT translational repressor PATL2.";
RL Am. J. Hum. Genet. 101:603-608(2017).
RN [4]
RP INVOLVEMENT IN OOMD4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP VARIANTS OOMD4 186-TYR--TYR-543 DEL; ARG-189; ASN-217; 262-ARG--TYR-543
RP DEL; GLN-280 AND THR-318.
RX PubMed=28965849; DOI=10.1016/j.ajhg.2017.08.018;
RA Chen B., Zhang Z., Sun X., Kuang Y., Mao X., Wang X., Yan Z., Li B., Xu Y.,
RA Yu M., Fu J., Mu J., Zhou Z., Li Q., Jin L., He L., Sang Q., Wang L.;
RT "Biallelic Mutations in PATL2 Cause Female Infertility Characterized by
RT Oocyte Maturation Arrest.";
RL Am. J. Hum. Genet. 101:609-615(2017).
CC -!- FUNCTION: RNA-binding protein that acts as a translational repressor.
CC {ECO:0000250|UniProtKB:Q4V7K4}.
CC -!- SUBUNIT: Interacts with LSM1. {ECO:0000269|PubMed:20584987}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20584987,
CC ECO:0000269|PubMed:28965849}. Nucleus {ECO:0000250|UniProtKB:A2ARM1}.
CC -!- TISSUE SPECIFICITY: Highly expressed in oocytes.
CC {ECO:0000269|PubMed:28965849}.
CC -!- DISEASE: Oocyte maturation defect 4 (OOMD4) [MIM:617743]: An
CC infertility disorder characterized by oocyte maturation arrest that can
CC occur at different stages of maturation. Some oocytes exhibit
CC maturation arrest at the germinal vesicle stage and others at the
CC metaphase I stage. Oocytes progressing to polar body I either undergo
CC fertilization failure or, in those that are fertilized, early embryonic
CC arrest. {ECO:0000269|PubMed:28965844, ECO:0000269|PubMed:28965849}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the PAT1 family. {ECO:0000305}.
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DR EMBL; AC009996; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025270; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS45253.1; -.
DR RefSeq; NP_001138584.1; NM_001145112.1.
DR AlphaFoldDB; C9JE40; -.
DR SMR; C9JE40; -.
DR BioGRID; 128239; 2.
DR IntAct; C9JE40; 6.
DR STRING; 9606.ENSP00000416673; -.
DR iPTMnet; C9JE40; -.
DR PhosphoSitePlus; C9JE40; -.
DR BioMuta; PATL2; -.
DR MassIVE; C9JE40; -.
DR PaxDb; C9JE40; -.
DR PeptideAtlas; C9JE40; -.
DR PRIDE; C9JE40; -.
DR Antibodypedia; 63580; 77 antibodies from 12 providers.
DR DNASU; 197135; -.
DR Ensembl; ENST00000434130.6; ENSP00000416673.1; ENSG00000229474.8.
DR Ensembl; ENST00000682850.1; ENSP00000508024.1; ENSG00000229474.8.
DR GeneID; 197135; -.
DR KEGG; hsa:197135; -.
DR MANE-Select; ENST00000682850.1; ENSP00000508024.1; NM_001387263.1; NP_001374192.1.
DR UCSC; uc010uej.3; human.
DR CTD; 197135; -.
DR DisGeNET; 197135; -.
DR GeneCards; PATL2; -.
DR HGNC; HGNC:33630; PATL2.
DR HPA; ENSG00000229474; Tissue enhanced (bone marrow, lymphoid tissue).
DR MalaCards; PATL2; -.
DR MIM; 614661; gene.
DR MIM; 617743; phenotype.
DR neXtProt; NX_C9JE40; -.
DR OpenTargets; ENSG00000229474; -.
DR Orphanet; 488191; Female infertility due to oocyte meiotic arrest.
DR PharmGKB; PA164724408; -.
DR VEuPathDB; HostDB:ENSG00000229474; -.
DR eggNOG; KOG4592; Eukaryota.
DR GeneTree; ENSGT00520000055649; -.
DR InParanoid; C9JE40; -.
DR OMA; CYSEQQS; -.
DR OrthoDB; 950451at2759; -.
DR PhylomeDB; C9JE40; -.
DR TreeFam; TF323322; -.
DR PathwayCommons; C9JE40; -.
DR SignaLink; C9JE40; -.
DR BioGRID-ORCS; 197135; 7 hits in 1080 CRISPR screens.
DR ChiTaRS; PATL2; human.
DR GenomeRNAi; 197135; -.
DR Pharos; C9JE40; Tbio.
DR PRO; PR:C9JE40; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; C9JE40; protein.
DR Bgee; ENSG00000229474; Expressed in granulocyte and 105 other tissues.
DR ExpressionAtlas; C9JE40; baseline and differential.
DR Genevisible; C9JE40; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0000932; C:P-body; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; ISS:UniProtKB.
DR GO; GO:0000290; P:deadenylation-dependent decapping of nuclear-transcribed mRNA; IBA:GO_Central.
DR GO; GO:0010607; P:negative regulation of cytoplasmic mRNA processing body assembly; IEA:Ensembl.
DR GO; GO:0017148; P:negative regulation of translation; ISS:UniProtKB.
DR GO; GO:0033962; P:P-body assembly; IBA:GO_Central.
DR InterPro; IPR039900; Pat1-like.
DR InterPro; IPR019167; PAT1_dom.
DR PANTHER; PTHR21551; PTHR21551; 1.
DR Pfam; PF09770; PAT1; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Disease variant; Nucleus; Reference proteome; RNA-binding.
FT CHAIN 1..543
FT /note="Protein PAT1 homolog 2"
FT /id="PRO_0000404577"
FT REGION 24..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 159..186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..60
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 159..175
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 88
FT /note="M -> L (in dbSNP:rs8026845)"
FT /id="VAR_064549"
FT VARIANT 160..543
FT /note="Missing (in OOMD4)"
FT /evidence="ECO:0000269|PubMed:28965844"
FT /id="VAR_080255"
FT VARIANT 186..543
FT /note="Missing (in OOMD4)"
FT /evidence="ECO:0000269|PubMed:28965849"
FT /id="VAR_080256"
FT VARIANT 189
FT /note="L -> R (in OOMD4; dbSNP:rs1156737044)"
FT /evidence="ECO:0000269|PubMed:28965849"
FT /id="VAR_080257"
FT VARIANT 217
FT /note="Y -> N (in OOMD4; dbSNP:rs1361024832)"
FT /evidence="ECO:0000269|PubMed:28965849"
FT /id="VAR_080258"
FT VARIANT 262..543
FT /note="Missing (in OOMD4)"
FT /evidence="ECO:0000269|PubMed:28965849"
FT /id="VAR_080259"
FT VARIANT 280
FT /note="R -> Q (in OOMD4; unknown pathological significance;
FT dbSNP:rs569729547)"
FT /evidence="ECO:0000269|PubMed:28965849"
FT /id="VAR_080260"
FT VARIANT 318
FT /note="I -> T (in OOMD4; unknown pathological significance;
FT dbSNP:rs1011539285)"
FT /evidence="ECO:0000269|PubMed:28965849"
FT /id="VAR_080261"
FT VARIANT 370
FT /note="G -> R (in OOMD4; unknown pathological significance;
FT dbSNP:rs1397500378)"
FT /evidence="ECO:0000269|PubMed:28965844"
FT /id="VAR_080262"
SQ SEQUENCE 543 AA; 61464 MW; 9CEBE851700D8DD6 CRC64;
MNCLEGPGKT CGPLASEEEL VSACQLEKEE ENEGEEEEEE EDEEDLDPDL DPDLEEEEND
LGDPAVLGAV HNTQRALLSS PGVKAPGMLG MSLASLHFLW QTLDYLSPIP FWPTFPSTSS
PAQHFGPRLP SPDPTLFCSL LTSWPPRFSH LTQLHPRHQR ILQQQQHSQT PSPPAKKPWS
QQPDPYANLM TRKEKDWVIK VQMVQLQSAK PRLDDYYYQE YYQKLEKKQA DEELLGRRNR
VESLKLVTPY IPKAEAYESV VRIEGSLGQV AVSTCFSPRR AIDAVPHGTQ EQDIEAASSQ
RLRVLYRIEK MFLQLLEIEE GWKYRPPPPC FSEQQSNQVE KLFQTLKTQE QNNLEEAADG
FLQVLSVRKG KALVARLLPF LPQDQAVTIL LAITHHLPLL VRRDVADQAL QMLFKPLGKC
ISHLTLHELL QGLQGLTLLP PGSSERPVTV VLQNQFGISL LYALLSHGEQ LVSLHSSLEE
PNSDHTAWTD MVVLIAWEIA QMPTASLAEP LAFPSNLLPL FCHHVDKQLV QQLEARMEFA
WIY
