UTP6_HUMAN
ID UTP6_HUMAN Reviewed; 597 AA.
AC Q9NYH9; Q8IX96; Q96BL2; Q9NQ91;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=U3 small nucleolar RNA-associated protein 6 homolog;
DE AltName: Full=Hepatocellular carcinoma-associated antigen 66;
DE AltName: Full=Multiple hat domains protein;
GN Name=UTP6; Synonyms=C17orf40, HCA66, MHAT;
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 [MRNA], AND VARIANT ARG-69.
RC TISSUE=Hepatoma;
RX PubMed=12097419; DOI=10.4049/jimmunol.169.2.1102;
RA Wang Y., Han K.-J., Pang X.-W., Vaughan H.A., Qu W., Dong X.-Y.,
RA Peng J.-R., Zhao H.-T., Rui J.-A., Leng X.-S., Cebon J., Burgess A.W.,
RA Chen W.-F.;
RT "Large scale identification of human hepatocellular carcinoma-associated
RT antigens by autoantibodies.";
RL J. Immunol. 169:1102-1109(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Agarwala K.L., Suzuki T., Tsutsumi Y., Amano K., Yamakawa K.;
RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-69.
RC TISSUE=Colon, and Prostate;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 392-597.
RX PubMed=10843809; DOI=10.1006/geno.2000.6179;
RA Jenne D.E., Tinschert S., Stegmann E., Reimann H., Nuernberg P., Horn D.,
RA Naumann I., Buske A., Thiel G.;
RT "A common set of at least 11 functional genes is lost in the majority of
RT NF1 patients with gross deletions.";
RL Genomics 66:93-97(2000).
RN [5]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=12429849; DOI=10.1091/mbc.e02-05-0271;
RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA Greco A., Hochstrasser D.F., Diaz J.-J.;
RT "Functional proteomic analysis of human nucleolus.";
RL Mol. Biol. Cell 13:4100-4109(2002).
CC -!- FUNCTION: Involved in nucleolar processing of pre-18S ribosomal RNA.
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NYH9; P02649: APOE; NbExp=3; IntAct=EBI-749211, EBI-1222467;
CC Q9NYH9; P21964-2: COMT; NbExp=3; IntAct=EBI-749211, EBI-10200977;
CC Q9NYH9; P42858: HTT; NbExp=3; IntAct=EBI-749211, EBI-466029;
CC Q9NYH9; O14901: KLF11; NbExp=3; IntAct=EBI-749211, EBI-948266;
CC Q9NYH9; P21980-2: TGM2; NbExp=3; IntAct=EBI-749211, EBI-25842075;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
CC -!- SIMILARITY: Belongs to the UTP6 family. {ECO:0000305}.
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DR EMBL; AF244135; AAF66244.1; -; mRNA.
DR EMBL; AF334386; AAO15382.1; -; mRNA.
DR EMBL; BC015454; AAH15454.1; -; mRNA.
DR EMBL; BC035325; AAH35325.1; -; mRNA.
DR EMBL; AJ272197; CAB77268.1; -; mRNA.
DR CCDS; CCDS11269.1; -.
DR RefSeq; NP_060898.2; NM_018428.2.
DR PDB; 7MQ8; EM; 3.60 A; LP=1-597.
DR PDB; 7MQ9; EM; 3.87 A; LP=1-597.
DR PDB; 7MQA; EM; 2.70 A; LP=1-597.
DR PDBsum; 7MQ8; -.
DR PDBsum; 7MQ9; -.
DR PDBsum; 7MQA; -.
DR AlphaFoldDB; Q9NYH9; -.
DR SMR; Q9NYH9; -.
DR BioGRID; 120923; 82.
DR IntAct; Q9NYH9; 34.
DR MINT; Q9NYH9; -.
DR STRING; 9606.ENSP00000261708; -.
DR iPTMnet; Q9NYH9; -.
DR PhosphoSitePlus; Q9NYH9; -.
DR SwissPalm; Q9NYH9; -.
DR BioMuta; UTP6; -.
DR DMDM; 134047946; -.
DR SWISS-2DPAGE; Q9NYH9; -.
DR EPD; Q9NYH9; -.
DR jPOST; Q9NYH9; -.
DR MassIVE; Q9NYH9; -.
DR MaxQB; Q9NYH9; -.
DR PaxDb; Q9NYH9; -.
DR PeptideAtlas; Q9NYH9; -.
DR PRIDE; Q9NYH9; -.
DR ProteomicsDB; 83231; -.
DR Antibodypedia; 15269; 145 antibodies from 25 providers.
DR DNASU; 55813; -.
DR Ensembl; ENST00000261708.9; ENSP00000261708.4; ENSG00000108651.10.
DR GeneID; 55813; -.
DR KEGG; hsa:55813; -.
DR MANE-Select; ENST00000261708.9; ENSP00000261708.4; NM_018428.3; NP_060898.2.
DR UCSC; uc002hgr.4; human.
DR CTD; 55813; -.
DR DisGeNET; 55813; -.
DR GeneCards; UTP6; -.
DR HGNC; HGNC:18279; UTP6.
DR HPA; ENSG00000108651; Low tissue specificity.
DR neXtProt; NX_Q9NYH9; -.
DR OpenTargets; ENSG00000108651; -.
DR PharmGKB; PA142672224; -.
DR VEuPathDB; HostDB:ENSG00000108651; -.
DR eggNOG; KOG2396; Eukaryota.
DR GeneTree; ENSGT00390000016493; -.
DR HOGENOM; CLU_026025_2_0_1; -.
DR InParanoid; Q9NYH9; -.
DR OMA; CKQWNAK; -.
DR OrthoDB; 367609at2759; -.
DR PhylomeDB; Q9NYH9; -.
DR TreeFam; TF323957; -.
DR PathwayCommons; Q9NYH9; -.
DR Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol.
DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR SignaLink; Q9NYH9; -.
DR BioGRID-ORCS; 55813; 517 hits in 1049 CRISPR screens.
DR ChiTaRS; UTP6; human.
DR GeneWiki; UTP6; -.
DR GenomeRNAi; 55813; -.
DR Pharos; Q9NYH9; Tbio.
DR PRO; PR:Q9NYH9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9NYH9; protein.
DR Bgee; ENSG00000108651; Expressed in calcaneal tendon and 195 other tissues.
DR ExpressionAtlas; Q9NYH9; baseline and differential.
DR Genevisible; Q9NYH9; HS.
DR GO; GO:0005694; C:chromosome; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0034388; C:Pwp2p-containing subcomplex of 90S preribosome; IBA:GO_Central.
DR GO; GO:0032040; C:small-subunit processome; IBA:GO_Central.
DR GO; GO:0030515; F:snoRNA binding; IBA:GO_Central.
DR GO; GO:0000462; P:maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR003107; HAT.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR013949; Utp6.
DR PANTHER; PTHR23271; PTHR23271; 1.
DR Pfam; PF08640; U3_assoc_6; 1.
DR SMART; SM00386; HAT; 7.
DR SUPFAM; SSF48452; SSF48452; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Nucleus; Reference proteome; Repeat; rRNA processing.
FT CHAIN 1..597
FT /note="U3 small nucleolar RNA-associated protein 6 homolog"
FT /id="PRO_0000205754"
FT REPEAT 121..153
FT /note="HAT 1"
FT REPEAT 156..188
FT /note="HAT 2"
FT REPEAT 304..335
FT /note="HAT 3"
FT REPEAT 488..520
FT /note="HAT 4"
FT REPEAT 524..557
FT /note="HAT 5"
FT VARIANT 35
FT /note="K -> R (in dbSNP:rs16967042)"
FT /id="VAR_031222"
FT VARIANT 69
FT /note="Q -> R (in dbSNP:rs3760454)"
FT /evidence="ECO:0000269|PubMed:12097419,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_026668"
FT VARIANT 134
FT /note="L -> V (in dbSNP:rs34859443)"
FT /id="VAR_049322"
SQ SEQUENCE 597 AA; 70194 MW; B5254063791E52FF CRC64;
MAEIIQERIE DRLPELEQLE RIGLFSHAEI KAIIKKASDL EYKIQRRTLF KEDFINYVQY
EINLLELIQR RRTRIGYSFK KDEIENSIVH RVQGVFQRAS AKWKDDVQLW LSYVAFCKKW
ATKTRLSKVF SAMLAIHSNK PALWIMAAKW EMEDRLSSES ARQLFLRALR FHPECPKLYK
EYFRMELMHA EKLRKEKEEF EKASMDVENP DYSEEILKGE LAWIIYKNSV SIIKGAEFHV
SLLSIAQLFD FAKDLQKEIY DDLQALHTDD PLTWDYVARR ELEIESQTEE QPTTKQAKAV
EVGRKEERCC AVYEEAVKTL PTEAMWKCYI TFCLERFTKK SNSGFLRGKR LERTMTVFRK
AHELKLLSEC QYKQLSVSLL CYNFLREALE VAVAGTELFR DSGTMWQLKL QVLIESKSPD
IAMLFEEAFV HLKPQVCLPL WISWAEWSEG AKSQEDTEAV FKKALLAVIG ADSVTLKNKY
LDWAYRSGGY KKARAVFKSL QESRPFSVDF FRKMIQFEKE QESCNMANIR EYYERALREF
GSADSDLWMD YMKEELNHPL GRPENCGQIY WRAMKMLQGE SAEAFVAKHA MHQTGHL
