FOXR1_HUMAN
ID FOXR1_HUMAN Reviewed; 292 AA.
AC Q6PIV2; B0YJ15; Q08AS8; Q86UT9; Q8IXX2;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Forkhead box protein R1;
DE AltName: Full=Forkhead box protein N5;
GN Name=FOXR1; Synonyms=FOXN5; ORFNames=DLNB13;
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] (ISOFORM 1).
RA Kubo T., Arai Y., Ohira M., Gamou T., Maeno G., Sakiyama T., Toyoda A.,
RA Hattori M., Sakaki Y., Nakagawara A., Ohki M.;
RT "Identification of a 500-kb region of common allelic loss in chromosome
RT 11q23 in non-MYCN amplified type of neuroblastoma.";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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 [5]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=25609838; DOI=10.1095/biolreprod.114.126250;
RA Petit F.G., Kervarrec C., Jamin S.P., Smagulova F., Hao C., Becker E.,
RA Jegou B., Chalmel F., Primig M.;
RT "Combining RNA and protein profiling data with network interactions
RT identifies genes associated with spermatogenesis in mouse and human.";
RL Biol. Reprod. 92:71-71(2015).
CC -!- INTERACTION:
CC Q6PIV2; P01023: A2M; NbExp=3; IntAct=EBI-10253815, EBI-640741;
CC Q6PIV2; Q92870-2: APBB2; NbExp=3; IntAct=EBI-10253815, EBI-21535880;
CC Q6PIV2; Q8N9N5: BANP; NbExp=3; IntAct=EBI-10253815, EBI-744695;
CC Q6PIV2; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-10253815, EBI-11524452;
CC Q6PIV2; Q96LK0: CEP19; NbExp=3; IntAct=EBI-10253815, EBI-741885;
CC Q6PIV2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-10253815, EBI-10976677;
CC Q6PIV2; P50570-2: DNM2; NbExp=3; IntAct=EBI-10253815, EBI-10968534;
CC Q6PIV2; Q7L190: DPPA4; NbExp=3; IntAct=EBI-10253815, EBI-710457;
CC Q6PIV2; Q53SE7: FLJ13057; NbExp=3; IntAct=EBI-10253815, EBI-10172181;
CC Q6PIV2; Q8TB36: GDAP1; NbExp=3; IntAct=EBI-10253815, EBI-11110431;
CC Q6PIV2; Q96IK5: GMCL1; NbExp=3; IntAct=EBI-10253815, EBI-2548508;
CC Q6PIV2; P42858: HTT; NbExp=12; IntAct=EBI-10253815, EBI-466029;
CC Q6PIV2; P51608: MECP2; NbExp=3; IntAct=EBI-10253815, EBI-1189067;
CC Q6PIV2; P50222: MEOX2; NbExp=3; IntAct=EBI-10253815, EBI-748397;
CC Q6PIV2; Q7Z412: PEX26; NbExp=3; IntAct=EBI-10253815, EBI-752057;
CC Q6PIV2; D3DTS7: PMP22; NbExp=3; IntAct=EBI-10253815, EBI-25882629;
CC Q6PIV2; Q96CD2: PPCDC; NbExp=10; IntAct=EBI-10253815, EBI-724333;
CC Q6PIV2; Q16637: SMN2; NbExp=3; IntAct=EBI-10253815, EBI-395421;
CC Q6PIV2; P37840: SNCA; NbExp=3; IntAct=EBI-10253815, EBI-985879;
CC Q6PIV2; O14656-2: TOR1A; NbExp=3; IntAct=EBI-10253815, EBI-25847109;
CC Q6PIV2; Q86WV8: TSC1; NbExp=3; IntAct=EBI-10253815, EBI-12806590;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25609838}.
CC Cytoplasm, perinuclear region {ECO:0000269|PubMed:25609838}.
CC Note=Located in the cytoplasm of spermatocytes and strongly accumulates
CC at the perinuclear region in elongated spermatids.
CC {ECO:0000269|PubMed:25609838}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6PIV2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PIV2-2; Sequence=VSP_056600, VSP_056601;
CC -!- TISSUE SPECIFICITY: Expressed in testis (at protein level).
CC {ECO:0000269|PubMed:25609838}.
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DR EMBL; AB094092; BAC76046.1; -; mRNA.
DR EMBL; EF444979; ACA05993.1; -; Genomic_DNA.
DR EMBL; AP003392; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP004609; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028191; AAH28191.2; -; mRNA.
DR EMBL; BC038969; AAH38969.2; -; mRNA.
DR EMBL; BC125040; AAI25041.1; -; mRNA.
DR CCDS; CCDS31688.1; -. [Q6PIV2-1]
DR RefSeq; NP_859072.1; NM_181721.2. [Q6PIV2-1]
DR AlphaFoldDB; Q6PIV2; -.
DR SMR; Q6PIV2; -.
DR BioGRID; 129476; 46.
DR IntAct; Q6PIV2; 54.
DR MINT; Q6PIV2; -.
DR STRING; 9606.ENSP00000314806; -.
DR iPTMnet; Q6PIV2; -.
DR PhosphoSitePlus; Q6PIV2; -.
DR BioMuta; FOXR1; -.
DR DMDM; 116247781; -.
DR MassIVE; Q6PIV2; -.
DR PaxDb; Q6PIV2; -.
DR PeptideAtlas; Q6PIV2; -.
DR PRIDE; Q6PIV2; -.
DR ProteomicsDB; 58686; -.
DR ProteomicsDB; 67180; -. [Q6PIV2-1]
DR Antibodypedia; 32552; 92 antibodies from 24 providers.
DR DNASU; 283150; -.
DR Ensembl; ENST00000317011.8; ENSP00000314806.3; ENSG00000176302.13. [Q6PIV2-1]
DR Ensembl; ENST00000531539.5; ENSP00000433394.1; ENSG00000176302.13. [Q6PIV2-2]
DR Ensembl; ENST00000626640.4; ENSP00000487495.3; ENSG00000281277.4. [Q6PIV2-1]
DR Ensembl; ENST00000634955.1; ENSP00000489241.1; ENSG00000281277.4. [Q6PIV2-2]
DR GeneID; 283150; -.
DR KEGG; hsa:283150; -.
DR MANE-Select; ENST00000317011.8; ENSP00000314806.3; NM_181721.3; NP_859072.1.
DR UCSC; uc001pui.4; human. [Q6PIV2-1]
DR CTD; 283150; -.
DR DisGeNET; 283150; -.
DR GeneCards; FOXR1; -.
DR HGNC; HGNC:29980; FOXR1.
DR HPA; ENSG00000176302; Tissue enriched (testis).
DR MIM; 615755; gene.
DR neXtProt; NX_Q6PIV2; -.
DR OpenTargets; ENSG00000176302; -.
DR PharmGKB; PA134959382; -.
DR VEuPathDB; HostDB:ENSG00000176302; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000162579; -.
DR HOGENOM; CLU_077699_3_1_1; -.
DR InParanoid; Q6PIV2; -.
DR OMA; SIQRCMS; -.
DR OrthoDB; 912825at2759; -.
DR PhylomeDB; Q6PIV2; -.
DR TreeFam; TF329867; -.
DR PathwayCommons; Q6PIV2; -.
DR SignaLink; Q6PIV2; -.
DR BioGRID-ORCS; 283150; 10 hits in 1089 CRISPR screens.
DR ChiTaRS; FOXR1; human.
DR GenomeRNAi; 283150; -.
DR Pharos; Q6PIV2; Tbio.
DR PRO; PR:Q6PIV2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6PIV2; protein.
DR Bgee; ENSG00000176302; Expressed in right testis and 42 other tissues.
DR ExpressionAtlas; Q6PIV2; baseline and differential.
DR Genevisible; Q6PIV2; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IBA:GO_Central.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; DNA-binding; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..292
FT /note="Forkhead box protein R1"
FT /id="PRO_0000253778"
FT DNA_BIND 173..272
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 31..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 65..166
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 31..46
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 101..116
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 129..205
FT /note="LTEEEEAEDQEDSSSMALPSPHKRAPLQSRRLRQASSQAGRLWSRPPLNYFH
FT LIALALRNSSPCGLNVQQIYSFTRK -> GPPPESEASASQQPGGEALVPAPSQLLPPN
FT CPGIKKQFPLWPQRATDLQFHSELLGLILLCSCCGPSPGPSEGGRVQ (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056600"
FT VAR_SEQ 206..291
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056601"
SQ SEQUENCE 292 AA; 33310 MW; 6516C9DB714F5A65 CRC64;
MGNELFLAFT TSHLPLAEQK LARYKLRIVK PPKLPLEKKP NPDKDGPDYE PNLWMWVNPN
IVYPPGKLEV SGRRKREDLT STLPSSQPPQ KEEDASCSEA AGVESLSQSS SKRSPPRKRF
AFSPSTWELT EEEEAEDQED SSSMALPSPH KRAPLQSRRL RQASSQAGRL WSRPPLNYFH
LIALALRNSS PCGLNVQQIY SFTRKHFPFF RTAPEGWKNT VRHNLCFRDS FEKVPVSMQG
GASTRPRSCL WKLTEEGHRR FAEEARALAS TRLESIQQCM SQPDVMPFLF DL
