LBHD1_HUMAN
ID LBHD1_HUMAN Reviewed; 289 AA.
AC Q9BQE6; Q96NA4;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 3.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=LBH domain-containing protein 1 {ECO:0000305};
GN Name=LBHD1 {ECO:0000312|HGNC:HGNC:28351};
GN Synonyms=C11orf48 {ECO:0000312|HGNC:HGNC:28351};
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] (ISOFORM 1).
RC TISSUE=Kidney;
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 MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
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 [3]
RP TISSUE SPECIFICITY.
RX PubMed=18828023; DOI=10.1007/s00345-008-0326-4;
RA Chen L., Chen W., Zhao L., Yu H.Z., Li X.;
RT "Immunoscreening of urinary bladder cancer cDNA library and identification
RT of potential tumor antigen.";
RL World J. Urol. 27:107-112(2009).
CC -!- INTERACTION:
CC Q9BQE6-2; P48444: ARCN1; NbExp=3; IntAct=EBI-12277798, EBI-1044491;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BQE6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BQE6-2; Sequence=VSP_024545;
CC -!- TISSUE SPECIFICITY: Expressed in bladder cancer tissues (at protein
CC level). {ECO:0000269|PubMed:18828023}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK055736; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC001434; AAH01434.2; -; mRNA.
DR CCDS; CCDS8028.1; -. [Q9BQE6-2]
DR RefSeq; NP_077004.2; NM_024099.3. [Q9BQE6-2]
DR AlphaFoldDB; Q9BQE6; -.
DR BioGRID; 122530; 14.
DR IntAct; Q9BQE6; 10.
DR STRING; 9606.ENSP00000436848; -.
DR iPTMnet; Q9BQE6; -.
DR PhosphoSitePlus; Q9BQE6; -.
DR BioMuta; LBHD1; -.
DR DMDM; 145558878; -.
DR jPOST; Q9BQE6; -.
DR MassIVE; Q9BQE6; -.
DR MaxQB; Q9BQE6; -.
DR PeptideAtlas; Q9BQE6; -.
DR PRIDE; Q9BQE6; -.
DR ProteomicsDB; 78664; -. [Q9BQE6-1]
DR ProteomicsDB; 78665; -. [Q9BQE6-2]
DR Antibodypedia; 1592; 26 antibodies from 12 providers.
DR DNASU; 79081; -.
DR Ensembl; ENST00000354588.8; ENSP00000346600.3; ENSG00000162194.13. [Q9BQE6-2]
DR Ensembl; ENST00000431002.6; ENSP00000416856.2; ENSG00000162194.13. [Q9BQE6-1]
DR Ensembl; ENST00000532208.5; ENSP00000436848.1; ENSG00000162194.13. [Q9BQE6-2]
DR GeneID; 79081; -.
DR KEGG; hsa:79081; -.
DR MANE-Select; ENST00000354588.8; ENSP00000346600.3; NM_024099.5; NP_077004.2. [Q9BQE6-2]
DR UCSC; uc001nuf.3; human. [Q9BQE6-1]
DR CTD; 79081; -.
DR DisGeNET; 79081; -.
DR GeneCards; LBHD1; -.
DR HGNC; HGNC:28351; LBHD1.
DR HPA; ENSG00000162194; Tissue enriched (retina).
DR neXtProt; NX_Q9BQE6; -.
DR OpenTargets; ENSG00000162194; -.
DR PharmGKB; PA142672293; -.
DR VEuPathDB; HostDB:ENSG00000162194; -.
DR eggNOG; ENOG502TCS0; Eukaryota.
DR GeneTree; ENSGT00400000022873; -.
DR HOGENOM; CLU_095191_0_0_1; -.
DR InParanoid; Q9BQE6; -.
DR OMA; RFVEYSH; -.
DR PhylomeDB; Q9BQE6; -.
DR PathwayCommons; Q9BQE6; -.
DR SignaLink; Q9BQE6; -.
DR BioGRID-ORCS; 79081; 3 hits in 115 CRISPR screens.
DR ChiTaRS; LBHD1; human.
DR GenomeRNAi; 79081; -.
DR Pharos; Q9BQE6; Tdark.
DR PRO; PR:Q9BQE6; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9BQE6; protein.
DR Bgee; ENSG00000162194; Expressed in granulocyte and 96 other tissues.
DR ExpressionAtlas; Q9BQE6; baseline and differential.
DR Genevisible; Q9BQE6; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IBA:GO_Central.
DR InterPro; IPR038990; LBH_dom.
DR InterPro; IPR042945; LBH_dom_prot.
DR PANTHER; PTHR14987; PTHR14987; 1.
DR Pfam; PF15317; Lbh; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..289
FT /note="LBH domain-containing protein 1"
FT /id="PRO_0000284493"
FT DOMAIN 1..128
FT /note="LBH"
FT /evidence="ECO:0000255"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 205..289
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 14..28
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 51..76
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024545"
SQ SEQUENCE 289 AA; 31565 MW; DAE62DC699180B47 CRC64;
MALVPGRSKE DGLWTRNSPG SSQHPESPRL PNPLWDRGKI GKVEGHQHIQ VSTSSACVWQ
LAYPPVWPNL PAVPIQDFSQ KSHLPSIVVE SSEVNEESGD LHLPHEELLL LTDGEEEDAE
AFFQDQSEEP GWAWSPQDPR SPLRTFNAGL SWGQDQDEED ACWILEDTAC LEATNHCPFW
DSTGSRVCRS GFVEYSHLLP PNSFEGAEEE AVQTPAGVES GAASEAPGGR GCDRPRADHA
APPQEAGVQC TCQHYTVREE AQKTPPADPA CPEREDSHGS GSPFKASQD
