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Protein

Protein PAT1 homolog 2

Gene

PATL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

RNA-binding protein that acts as a translational repressor.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Protein PAT1 homolog 2
Alternative name(s):
PAT1-like protein 2
Protein PAT1 homolog a
Short name:
Pat1a
Short name:
hPat1a
Gene namesi
Name:PATL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000229474.6
HGNCiHGNC:33630 PATL2
MIMi614661 gene
neXtProtiNX_C9JE40

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Oocyte maturation defect 4 (OOMD4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder characterized by oocyte maturation arrest that can occur at different stages of maturation. Some oocytes exhibit maturation arrest at the germinal vesicle stage and others at the metaphase I stage. Oocytes progressing to polar body I either undergo fertilization failure or, in those that are fertilized, early embryonic arrest.
See also OMIM:617743
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080255160 – 543Missing in OOMD4. 1 PublicationAdd BLAST384
Natural variantiVAR_080256186 – 543Missing in OOMD4. 1 PublicationAdd BLAST358
Natural variantiVAR_080257189L → R in OOMD4. 1 Publication1
Natural variantiVAR_080258217Y → N in OOMD4. 1 Publication1
Natural variantiVAR_080259262 – 543Missing in OOMD4. 1 PublicationAdd BLAST282
Natural variantiVAR_080260280R → Q in OOMD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs569729547EnsemblClinVar.1
Natural variantiVAR_080261318I → T in OOMD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1011539285Ensembl.1
Natural variantiVAR_080262370G → R in OOMD4; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPATL2
MIMi617743 phenotype
OpenTargetsiENSG00000229474
PharmGKBiPA164724408

Polymorphism and mutation databases

BioMutaiPATL2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004045771 – 543Protein PAT1 homolog 2Add BLAST543

Proteomic databases

PaxDbiC9JE40
PRIDEiC9JE40
ProteomicsDBi9809

PTM databases

iPTMnetiC9JE40
PhosphoSitePlusiC9JE40

Expressioni

Tissue specificityi

Highly expressed in oocytes.1 Publication

Gene expression databases

BgeeiENSG00000229474
ExpressionAtlasiC9JE40 baseline and differential
GenevisibleiC9JE40 HS

Interactioni

Subunit structurei

Interacts with LSM1.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000416673

Structurei

3D structure databases

ProteinModelPortaliC9JE40
SMRiC9JE40
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PAT1 family.Curated

Phylogenomic databases

eggNOGiENOG410IJI7 Eukaryota
ENOG410YH7J LUCA
GeneTreeiENSGT00520000055649
HOGENOMiHOG000231836
InParanoidiC9JE40
OMAiWSQQPDP
OrthoDBiEOG091G0MYC
PhylomeDBiC9JE40
TreeFamiTF323322

Family and domain databases

InterProiView protein in InterPro
IPR019167 Topo_II-assoc_PAT1
PfamiView protein in Pfam
PF09770 PAT1, 1 hit

Sequencei

Sequence statusi: Complete.

C9JE40-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNCLEGPGKT CGPLASEEEL VSACQLEKEE ENEGEEEEEE EDEEDLDPDL
60 70 80 90 100
DPDLEEEEND LGDPAVLGAV HNTQRALLSS PGVKAPGMLG MSLASLHFLW
110 120 130 140 150
QTLDYLSPIP FWPTFPSTSS PAQHFGPRLP SPDPTLFCSL LTSWPPRFSH
160 170 180 190 200
LTQLHPRHQR ILQQQQHSQT PSPPAKKPWS QQPDPYANLM TRKEKDWVIK
210 220 230 240 250
VQMVQLQSAK PRLDDYYYQE YYQKLEKKQA DEELLGRRNR VESLKLVTPY
260 270 280 290 300
IPKAEAYESV VRIEGSLGQV AVSTCFSPRR AIDAVPHGTQ EQDIEAASSQ
310 320 330 340 350
RLRVLYRIEK MFLQLLEIEE GWKYRPPPPC FSEQQSNQVE KLFQTLKTQE
360 370 380 390 400
QNNLEEAADG FLQVLSVRKG KALVARLLPF LPQDQAVTIL LAITHHLPLL
410 420 430 440 450
VRRDVADQAL QMLFKPLGKC ISHLTLHELL QGLQGLTLLP PGSSERPVTV
460 470 480 490 500
VLQNQFGISL LYALLSHGEQ LVSLHSSLEE PNSDHTAWTD MVVLIAWEIA
510 520 530 540
QMPTASLAEP LAFPSNLLPL FCHHVDKQLV QQLEARMEFA WIY
Length:543
Mass (Da):61,464
Last modified:November 3, 2009 - v1
Checksum:i9CEBE851700D8DD6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06454988M → L. Corresponds to variant dbSNP:rs8026845Ensembl.1
Natural variantiVAR_080255160 – 543Missing in OOMD4. 1 PublicationAdd BLAST384
Natural variantiVAR_080256186 – 543Missing in OOMD4. 1 PublicationAdd BLAST358
Natural variantiVAR_080257189L → R in OOMD4. 1 Publication1
Natural variantiVAR_080258217Y → N in OOMD4. 1 Publication1
Natural variantiVAR_080259262 – 543Missing in OOMD4. 1 PublicationAdd BLAST282
Natural variantiVAR_080260280R → Q in OOMD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs569729547EnsemblClinVar.1
Natural variantiVAR_080261318I → T in OOMD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1011539285Ensembl.1
Natural variantiVAR_080262370G → R in OOMD4; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009996 Genomic DNA No translation available.
AC025270 Genomic DNA No translation available.
CCDSiCCDS45253.1
RefSeqiNP_001138584.1, NM_001145112.1
UniGeneiHs.11594

Genome annotation databases

EnsembliENST00000434130; ENSP00000416673; ENSG00000229474
ENST00000560775; ENSP00000453915; ENSG00000229474
GeneIDi197135
KEGGihsa:197135
UCSCiuc010uej.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPATL2_HUMAN
AccessioniPrimary (citable) accession number: C9JE40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 8, 2011
Last sequence update: November 3, 2009
Last modified: June 20, 2018
This is version 66 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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