U2QL1_HUMAN
ID U2QL1_HUMAN Reviewed; 161 AA.
AC A1L167;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Ubiquitin-conjugating enzyme E2Q-like protein 1;
DE EC=2.3.2.23;
DE AltName: Full=E2Q-like ubiquitin-conjugating enzyme 1;
GN Name=UBE2QL1;
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 MRNA].
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 [2]
RP FUNCTION, SUBCELLULAR LOCATION, CHROMOSOMAL TRANSLOCATION, INTERACTION WITH
RP FBXW7, INVOLVEMENT IN RCC, MUTAGENESIS OF CYS-88, AND ACTIVE SITE.
RX PubMed=24000165; DOI=10.1002/humu.22433;
RA Wake N.C., Ricketts C.J., Morris M.R., Prigmore E., Gribble S.M.,
RA Skytte A.B., Brown M., Clarke N., Banks R.E., Hodgson S., Turnell A.S.,
RA Maher E.R., Woodward E.R.;
RT "UBE2QL1 is disrupted by a constitutional translocation associated with
RT renal tumor predisposition and is a novel candidate renal tumor suppressor
RT gene.";
RL Hum. Mutat. 34:1650-1661(2013).
CC -!- FUNCTION: Probable E2 ubiquitin-protein ligase that catalyzes the
CC covalent attachment of ubiquitin to target proteins. May facilitate the
CC monoubiquitination and degradation of MTOR and CCNE1 through
CC interaction with FBXW7. {ECO:0000269|PubMed:24000165}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine +
CC [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-
CC activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-
CC conjugating enzyme]-L-cysteine.; EC=2.3.2.23;
CC Evidence={ECO:0000255|PROSITE-ProRule:PRU00388};
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC {ECO:0000255|PROSITE-ProRule:PRU00388}.
CC -!- SUBUNIT: Interacts with FBXW7. {ECO:0000269|PubMed:24000165}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24000165}.
CC -!- DISEASE: Note=A chromosomal aberration involving UBE2QL1 has been found
CC in a sporadic case of renal cell carcinoma (RCC). Translocation
CC t(5;19)(p15.3;q12). No gene is disrupted by the chromosome 19
CC breakpoint. {ECO:0000269|PubMed:24000165}.
CC -!- SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.
CC {ECO:0000255|PROSITE-ProRule:PRU00388}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI27724.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI50555.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; BC127723; AAI27724.1; ALT_INIT; mRNA.
DR EMBL; BC150554; AAI50555.1; ALT_INIT; mRNA.
DR CCDS; CCDS47189.1; -.
DR RefSeq; NP_001138633.1; NM_001145161.2.
DR AlphaFoldDB; A1L167; -.
DR SMR; A1L167; -.
DR BioGRID; 126384; 1.
DR STRING; 9606.ENSP00000382713; -.
DR iPTMnet; A1L167; -.
DR PhosphoSitePlus; A1L167; -.
DR BioMuta; UBE2QL1; -.
DR PaxDb; A1L167; -.
DR PeptideAtlas; A1L167; -.
DR PRIDE; A1L167; -.
DR ProteomicsDB; 132; -.
DR DNASU; 134111; -.
DR Ensembl; ENST00000399816.4; ENSP00000382713.3; ENSG00000215218.4.
DR GeneID; 134111; -.
DR KEGG; hsa:134111; -.
DR MANE-Select; ENST00000399816.4; ENSP00000382713.3; NM_001145161.3; NP_001138633.1.
DR UCSC; uc003jdp.5; human.
DR CTD; 134111; -.
DR DisGeNET; 134111; -.
DR GeneCards; UBE2QL1; -.
DR HGNC; HGNC:37269; UBE2QL1.
DR HPA; ENSG00000215218; Tissue enhanced (brain, retina, skeletal muscle).
DR MIM; 615832; gene.
DR neXtProt; NX_A1L167; -.
DR OpenTargets; ENSG00000215218; -.
DR PharmGKB; PA165660602; -.
DR VEuPathDB; HostDB:ENSG00000215218; -.
DR eggNOG; KOG0897; Eukaryota.
DR GeneTree; ENSGT00940000161612; -.
DR HOGENOM; CLU_089409_1_0_1; -.
DR InParanoid; A1L167; -.
DR OMA; PPYIRVV; -.
DR OrthoDB; 1214134at2759; -.
DR PhylomeDB; A1L167; -.
DR TreeFam; TF313338; -.
DR BRENDA; 2.3.2.23; 2681.
DR PathwayCommons; A1L167; -.
DR SignaLink; A1L167; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 134111; 10 hits in 1070 CRISPR screens.
DR ChiTaRS; UBE2QL1; human.
DR GenomeRNAi; 134111; -.
DR Pharos; A1L167; Tbio.
DR PRO; PR:A1L167; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; A1L167; protein.
DR Bgee; ENSG00000215218; Expressed in endothelial cell and 164 other tissues.
DR Genevisible; A1L167; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0061631; F:ubiquitin conjugating enzyme activity; IDA:MGI.
DR GO; GO:0000209; P:protein polyubiquitination; IBA:GO_Central.
DR Gene3D; 3.10.110.10; -; 1.
DR InterPro; IPR000608; UBQ-conjugat_E2.
DR InterPro; IPR016135; UBQ-conjugating_enzyme/RWD.
DR Pfam; PF00179; UQ_con; 1.
DR SUPFAM; SSF54495; SSF54495; 1.
DR PROSITE; PS50127; UBC_2; 1.
PE 1: Evidence at protein level;
KW ATP-binding; Chromosomal rearrangement; Nucleotide-binding; Nucleus;
KW Reference proteome; Transferase; Ubl conjugation pathway.
FT CHAIN 1..161
FT /note="Ubiquitin-conjugating enzyme E2Q-like protein 1"
FT /id="PRO_0000335811"
FT DOMAIN 1..154
FT /note="UBC core"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00388"
FT ACT_SITE 88
FT /note="Glycyl thioester intermediate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00388,
FT ECO:0000269|PubMed:24000165"
FT MUTAGEN 88
FT /note="C->A: Unable to bind ubiquitin."
FT /evidence="ECO:0000269|PubMed:24000165"
FT MUTAGEN 88
FT /note="C->S: Enhanced ubiquitin binding."
FT /evidence="ECO:0000269|PubMed:24000165"
SQ SEQUENCE 161 AA; 18338 MW; B2062702B5EFB2A2 CRC64;
MKELQDIARL SDRFISVELV DESLFDWNVK LHQVDKDSVL WQDMKETNTE FILLNLTFPD
NFPFSPPFMR VLSPRLENGY VLDGGAICME LLTPRGWSSA YTVEAVMRQF AASLVKGQGR
ICRKAGKSKK SFSRKEAEAT FKSLVKTHEK YGWVTPPVSD G
