OSR1_HUMAN
ID OSR1_HUMAN Reviewed; 266 AA.
AC Q8TAX0; B3KV97; D6W521;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Protein odd-skipped-related 1;
GN Name=OSR1; Synonyms=ODD;
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 TISSUE SPECIFICITY.
RX PubMed=12119563;
RA Katoh M.;
RT "Molecular cloning and characterization of OSR1 on human chromosome 2p24.";
RL Int. J. Mol. Med. 10:221-225(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NIEHS SNPs program;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 -!- FUNCTION: Transcription factor that plays a role in the regulation of
CC embryonic heart and urogenital development. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in adult colon, small intestine,
CC prostate, testis, and fetal lung. {ECO:0000269|PubMed:12119563}.
CC -!- SIMILARITY: Belongs to the Odd C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/osr1/";
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DR EMBL; AB082568; BAB92079.1; -; mRNA.
DR EMBL; AK074591; BAC11079.1; -; mRNA.
DR EMBL; AK122756; BAG53709.1; -; mRNA.
DR EMBL; DQ021502; AAY26397.1; -; Genomic_DNA.
DR EMBL; AC018741; AAY14760.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00846.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00848.1; -; Genomic_DNA.
DR EMBL; BC025712; AAH25712.1; -; mRNA.
DR CCDS; CCDS1694.1; -.
DR RefSeq; NP_660303.1; NM_145260.2.
DR RefSeq; XP_006712005.1; XM_006711942.3.
DR AlphaFoldDB; Q8TAX0; -.
DR SMR; Q8TAX0; -.
DR BioGRID; 126234; 3.
DR STRING; 9606.ENSP00000272223; -.
DR BindingDB; Q8TAX0; -.
DR ChEMBL; CHEMBL4523406; -.
DR iPTMnet; Q8TAX0; -.
DR PhosphoSitePlus; Q8TAX0; -.
DR BioMuta; OSR1; -.
DR DMDM; 74762600; -.
DR jPOST; Q8TAX0; -.
DR MassIVE; Q8TAX0; -.
DR PaxDb; Q8TAX0; -.
DR PeptideAtlas; Q8TAX0; -.
DR PRIDE; Q8TAX0; -.
DR ProteomicsDB; 73932; -.
DR Antibodypedia; 12948; 376 antibodies from 30 providers.
DR DNASU; 130497; -.
DR Ensembl; ENST00000272223.3; ENSP00000272223.2; ENSG00000143867.7.
DR GeneID; 130497; -.
DR KEGG; hsa:130497; -.
DR MANE-Select; ENST00000272223.3; ENSP00000272223.2; NM_145260.3; NP_660303.1.
DR UCSC; uc002rdc.4; human.
DR CTD; 130497; -.
DR DisGeNET; 130497; -.
DR GeneCards; OSR1; -.
DR HGNC; HGNC:8111; OSR1.
DR HPA; ENSG00000143867; Tissue enhanced (urinary).
DR MIM; 608891; gene.
DR neXtProt; NX_Q8TAX0; -.
DR OpenTargets; ENSG00000143867; -.
DR PharmGKB; PA164742217; -.
DR VEuPathDB; HostDB:ENSG00000143867; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000158993; -.
DR HOGENOM; CLU_051854_0_0_1; -.
DR InParanoid; Q8TAX0; -.
DR OMA; KPAKIKC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8TAX0; -.
DR TreeFam; TF350876; -.
DR PathwayCommons; Q8TAX0; -.
DR SignaLink; Q8TAX0; -.
DR BioGRID-ORCS; 130497; 17 hits in 1095 CRISPR screens.
DR ChiTaRS; OSR1; human.
DR GeneWiki; OSR1; -.
DR GenomeRNAi; 130497; -.
DR Pharos; Q8TAX0; Tchem.
DR PRO; PR:Q8TAX0; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8TAX0; protein.
DR Bgee; ENSG00000143867; Expressed in descending thoracic aorta and 103 other tissues.
DR Genevisible; Q8TAX0; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; ISS:ParkinsonsUK-UCL.
DR GO; GO:0019898; C:extrinsic component of membrane; ISS:ParkinsonsUK-UCL.
DR GO; GO:0005634; C:nucleus; IDA:LIFEdb.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; ISS:BHF-UCL.
DR GO; GO:0072111; P:cell proliferation involved in kidney development; ISS:UniProtKB.
DR GO; GO:0071300; P:cellular response to retinoic acid; IEA:Ensembl.
DR GO; GO:0002062; P:chondrocyte differentiation; ISS:BHF-UCL.
DR GO; GO:0042733; P:embryonic digit morphogenesis; ISS:BHF-UCL.
DR GO; GO:0035115; P:embryonic forelimb morphogenesis; ISS:BHF-UCL.
DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; ISS:BHF-UCL.
DR GO; GO:0072498; P:embryonic skeletal joint development; ISS:BHF-UCL.
DR GO; GO:0060272; P:embryonic skeletal joint morphogenesis; ISS:BHF-UCL.
DR GO; GO:0036023; P:embryonic skeletal limb joint morphogenesis; ISS:BHF-UCL.
DR GO; GO:0008406; P:gonad development; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; ISS:UniProtKB.
DR GO; GO:0048389; P:intermediate mesoderm development; IEA:Ensembl.
DR GO; GO:0072143; P:mesangial cell development; ISS:UniProtKB.
DR GO; GO:0072180; P:mesonephric duct morphogenesis; ISS:UniProtKB.
DR GO; GO:0001823; P:mesonephros development; ISS:UniProtKB.
DR GO; GO:0090094; P:metanephric cap mesenchymal cell proliferation involved in metanephros development; ISS:UniProtKB.
DR GO; GO:0072207; P:metanephric epithelium development; ISS:UniProtKB.
DR GO; GO:0072239; P:metanephric glomerulus vasculature development; ISS:UniProtKB.
DR GO; GO:0072259; P:metanephric interstitial fibroblast development; ISS:UniProtKB.
DR GO; GO:0072162; P:metanephric mesenchymal cell differentiation; ISS:UniProtKB.
DR GO; GO:0072075; P:metanephric mesenchyme development; ISS:UniProtKB.
DR GO; GO:0072133; P:metanephric mesenchyme morphogenesis; ISS:UniProtKB.
DR GO; GO:0072234; P:metanephric nephron tubule development; ISS:UniProtKB.
DR GO; GO:0072208; P:metanephric smooth muscle tissue development; ISS:UniProtKB.
DR GO; GO:0042474; P:middle ear morphogenesis; ISS:UniProtKB.
DR GO; GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
DR GO; GO:1905408; P:negative regulation of creatine transmembrane transporter activity; IDA:ParkinsonsUK-UCL.
DR GO; GO:0030857; P:negative regulation of epithelial cell differentiation; ISS:UniProtKB.
DR GO; GO:0072183; P:negative regulation of nephron tubule epithelial cell differentiation; ISS:UniProtKB.
DR GO; GO:2000650; P:negative regulation of sodium ion transmembrane transporter activity; IDA:ParkinsonsUK-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0042476; P:odontogenesis; ISS:UniProtKB.
DR GO; GO:0072268; P:pattern specification involved in metanephros development; ISS:UniProtKB.
DR GO; GO:0030501; P:positive regulation of bone mineralization; ISS:BHF-UCL.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; ISS:UniProtKB.
DR GO; GO:2000543; P:positive regulation of gastrulation; IMP:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0072166; P:posterior mesonephric tubule development; ISS:UniProtKB.
DR GO; GO:0048793; P:pronephros development; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0072184; P:renal vesicle progenitor cell differentiation; ISS:UniProtKB.
DR GO; GO:0060021; P:roof of mouth development; ISS:UniProtKB.
DR GO; GO:0035725; P:sodium ion transmembrane transport; IEA:Ensembl.
DR GO; GO:0072168; P:specification of anterior mesonephric tubule identity; ISS:UniProtKB.
DR GO; GO:0072169; P:specification of posterior mesonephric tubule identity; ISS:UniProtKB.
DR GO; GO:0048863; P:stem cell differentiation; ISS:UniProtKB.
DR GO; GO:0072190; P:ureter urothelium development; ISS:UniProtKB.
DR GO; GO:0001657; P:ureteric bud development; ISS:UniProtKB.
DR GO; GO:0001655; P:urogenital system development; ISS:UniProtKB.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 3.
DR SMART; SM00355; ZnF_C2H2; 3.
DR SUPFAM; SSF57667; SSF57667; 2.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
PE 2: Evidence at transcript level;
KW Metal-binding; Methylation; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..266
FT /note="Protein odd-skipped-related 1"
FT /id="PRO_0000047004"
FT ZN_FING 175..197
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 203..225
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 231..253
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT MOD_RES 116
FT /note="Asymmetric dimethylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q9WVG7"
FT CONFLICT 214
FT /note="R -> G (in Ref. 2; BAG53709)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 266 AA; 29611 MW; 3D15ED2565C954E3 CRC64;
MGSKTLPAPV PIHPSLQLTN YSFLQAVNGL PTVPSDHLPN LYGFSALHAV HLHQWTLGYP
AMHLPRSSFS KVPGTVSSLV DARFQLPAFP WFPHVIQPKP EITAGGSVPA LKTKPRFDFA
NLALAATQED PAKLGRGEGP GSPAGGLGAL LDVTKLSPEK KPTRGRLPSK TKKEFVCKFC
GRHFTKSYNL LIHERTHTDE RPYTCDICHK AFRRQDHLRD HRYIHSKEKP FKCQECGKGF
CQSRTLAVHK TLHSQVKELK TSKIKC
