UBQLN_HUMAN
ID UBQLN_HUMAN Reviewed; 475 AA.
AC Q8IYU4; Q6ZRU1; Q96EK3; Q96MB0;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Ubiquilin-like protein;
GN Name=UBQLNL;
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] (ISOFORMS 1 AND 2), AND VARIANTS
RP VAL-275 AND GLY-379.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ARG-171;
RP HIS-274; VAL-275; GLY-379 AND GLU-455.
RC TISSUE=Testis, and Uterus;
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).
CC -!- INTERACTION:
CC Q8IYU4; P45381: ASPA; NbExp=3; IntAct=EBI-12295223, EBI-750475;
CC Q8IYU4; Q9UBB4: ATXN10; NbExp=3; IntAct=EBI-12295223, EBI-702390;
CC Q8IYU4; Q6ICB0: DESI1; NbExp=6; IntAct=EBI-12295223, EBI-2806959;
CC Q8IYU4; P07686: HEXB; NbExp=3; IntAct=EBI-12295223, EBI-7133736;
CC Q8IYU4; O14964: HGS; NbExp=3; IntAct=EBI-12295223, EBI-740220;
CC Q8IYU4; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-12295223, EBI-1055254;
CC Q8IYU4; O14901: KLF11; NbExp=3; IntAct=EBI-12295223, EBI-948266;
CC Q8IYU4; Q13148: TARDBP; NbExp=3; IntAct=EBI-12295223, EBI-372899;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IYU4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IYU4-2; Sequence=VSP_028833;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC87218.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
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DR EMBL; AK057255; BAB71398.1; -; mRNA.
DR EMBL; AK127987; BAC87218.1; ALT_SEQ; mRNA.
DR EMBL; AC087380; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC012183; AAH12183.2; -; mRNA.
DR EMBL; BC034977; AAH34977.2; -; mRNA.
DR CCDS; CCDS31385.1; -. [Q8IYU4-1]
DR RefSeq; NP_659490.4; NM_145053.4. [Q8IYU4-1]
DR AlphaFoldDB; Q8IYU4; -.
DR SMR; Q8IYU4; -.
DR BioGRID; 126812; 4.
DR IntAct; Q8IYU4; 9.
DR STRING; 9606.ENSP00000369531; -.
DR iPTMnet; Q8IYU4; -.
DR PhosphoSitePlus; Q8IYU4; -.
DR BioMuta; UBQLNL; -.
DR DMDM; 296453003; -.
DR MassIVE; Q8IYU4; -.
DR PaxDb; Q8IYU4; -.
DR PeptideAtlas; Q8IYU4; -.
DR PRIDE; Q8IYU4; -.
DR Antibodypedia; 23640; 78 antibodies from 20 providers.
DR DNASU; 143630; -.
DR Ensembl; ENST00000380184.2; ENSP00000369531.1; ENSG00000175518.8. [Q8IYU4-1]
DR GeneID; 143630; -.
DR KEGG; hsa:143630; -.
DR MANE-Select; ENST00000380184.2; ENSP00000369531.1; NM_145053.5; NP_659490.4.
DR UCSC; uc001maz.5; human. [Q8IYU4-1]
DR CTD; 143630; -.
DR DisGeNET; 143630; -.
DR GeneCards; UBQLNL; -.
DR HGNC; HGNC:28294; UBQLNL.
DR HPA; ENSG00000175518; Tissue enriched (testis).
DR neXtProt; NX_Q8IYU4; -.
DR OpenTargets; ENSG00000175518; -.
DR PharmGKB; PA162407912; -.
DR VEuPathDB; HostDB:ENSG00000175518; -.
DR eggNOG; KOG0010; Eukaryota.
DR GeneTree; ENSGT00940000163345; -.
DR HOGENOM; CLU_024293_4_0_1; -.
DR InParanoid; Q8IYU4; -.
DR OMA; LSAHFKC; -.
DR OrthoDB; 1553668at2759; -.
DR PhylomeDB; Q8IYU4; -.
DR TreeFam; TF314412; -.
DR PathwayCommons; Q8IYU4; -.
DR SignaLink; Q8IYU4; -.
DR BioGRID-ORCS; 143630; 13 hits in 1074 CRISPR screens.
DR ChiTaRS; UBQLNL; human.
DR GenomeRNAi; 143630; -.
DR Pharos; Q8IYU4; Tdark.
DR PRO; PR:Q8IYU4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8IYU4; protein.
DR Bgee; ENSG00000175518; Expressed in sperm and 97 other tissues.
DR ExpressionAtlas; Q8IYU4; baseline and differential.
DR Genevisible; Q8IYU4; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0031593; F:polyubiquitin modification-dependent protein binding; IBA:GO_Central.
DR GO; GO:0006511; P:ubiquitin-dependent protein catabolic process; IBA:GO_Central.
DR InterPro; IPR000626; Ubiquitin-like_dom.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR Pfam; PF00240; ubiquitin; 1.
DR SMART; SM00213; UBQ; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50053; UBIQUITIN_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..475
FT /note="Ubiquilin-like protein"
FT /id="PRO_0000307791"
FT DOMAIN 31..105
FT /note="Ubiquitin-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00214"
FT REGION 113..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 305..325
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 117..131
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 127..341
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028833"
FT VARIANT 92
FT /note="D -> V (in dbSNP:rs7933557)"
FT /id="VAR_036652"
FT VARIANT 143
FT /note="Q -> K (in dbSNP:rs3802978)"
FT /id="VAR_036653"
FT VARIANT 171
FT /note="C -> R (in dbSNP:rs2047456)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036654"
FT VARIANT 259
FT /note="G -> D (in dbSNP:rs16932225)"
FT /id="VAR_036655"
FT VARIANT 274
FT /note="Y -> H (in dbSNP:rs2017434)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036656"
FT VARIANT 275
FT /note="A -> V (in dbSNP:rs2017433)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_036657"
FT VARIANT 379
FT /note="W -> G (in dbSNP:rs393044)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_036658"
FT VARIANT 455
FT /note="Q -> E (in dbSNP:rs12223282)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036659"
FT CONFLICT 351
FT /note="K -> E (in Ref. 1; BAB71398)"
FT /evidence="ECO:0000305"
FT CONFLICT 398
FT /note="D -> G (in Ref. 1; BAB71398)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 475 AA; 52897 MW; 410A3131A9CE9265 CRC64;
MWHAISRTSR MSQSGCPSGL LADKNISSSA TRVIVKTAGN QKDFMVADDI SVRQFKEMLL
AHFQCQMDQL VLVFMGCLLK DHDTLSQRGI MDGHTIYLVI KSKQGSRSLA HSFRDLPTND
PCHRDRNTKG NSSRVHQPTG MNQAPVELAH FVGSDAPKVH TQNLEVSHPE CKAQMLENPS
IQRLLSNMEF MWQFISEHLD TQQLMQQNPE VSRLLLDNSE ILLQTLELAR NLAMIQEIMQ
IQQPSQNLEY PLNPQPYLGL ETMPGGNNAL GQNYADINDQ MLNSMQDPFG GNPFTALLAG
QVLEQVQSSP PPPPPSQEQQ DQLTQHPATR VIYNSSGGFS SNTSANDTLN KVNHTSKANT
AMISTKGQSH ICATRQPAWI PALPSIELTQ QLQEEYKDAT VSLSSSRQTL KGDLQLSDEQ
SSSQITGGMM QLLMNNPYLA AQIMLFTSMP QLSEQWRQQL PTFLQQTQIS DLLSA
