ID RHXF1_HUMAN Reviewed; 184 AA. AC Q8NHV9; O95030; Q3SYE0; DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-2002, sequence version 1. DT 26-FEB-2020, entry version 142. DE RecName: Full=Rhox homeobox family member 1 {ECO:0000305}; DE AltName: Full=Ovary-, testis- and epididymis-expressed gene protein; DE AltName: Full=Paired-like homeobox protein PEPP-1; GN Name=RHOXF1 {ECO:0000312|HGNC:HGNC:29993}; Synonyms=OTEX, PEPP1; 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], SUBCELLULAR LOCATION, AND MUTAGENESIS OF THE RP NUCLEAR LOCALIZATION SIGNAL. RC TISSUE=Ovary, and Testis; RX PubMed=11980563; DOI=10.1042/bj20020399; RA Geserick C., Weiss B., Schleuning W.-D., Haendler B.; RT "OTEX, an androgen-regulated human member of the paired-like class of RT homeobox genes."; RL Biochem. J. 366:367-375(2002). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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 TISSUE SPECIFICITY. RX PubMed=12490318; DOI=10.1016/s0378-1119(02)01087-9; RA Wayne C.M., MacLean J.A. II, Cornwall G., Wilkinson M.F.; RT "Two novel human X-linked homeobox genes, hPEPP1 and hPEPP2, selectively RT expressed in the testis."; RL Gene 301:1-11(2002). RN [5] RP VARIANT HIS-177. RX PubMed=26506222; DOI=10.1002/ana.24550; RA Park H.J., Hong Y.B., Choi Y.C., Lee J., Kim E.J., Lee J.S., Mo W.M., RA Ki S.M., Kim H.I., Kim H.J., Hyun Y.S., Hong H.D., Nam K., Jung S.C., RA Kim S.B., Kim S.H., Kim D.H., Oh K.W., Kim S.H., Yoo J.H., Lee J.E., RA Chung K.W., Choi B.O.; RT "ADSSL1 mutation relevant to autosomal recessive adolescent onset distal RT myopathy."; RL Ann. Neurol. 79:231-243(2016). RN [6] RP FUNCTION, TISSUE SPECIFICITY, VARIANT HIS-172, AND CHARACTERIZATION OF RP VARIANT HIS-172. RX PubMed=28171660; DOI=10.1093/hmg/ddw313; RA Borgmann J., Tuettelmann F., Dworniczak B., Roepke A., Song H.W., RA Kliesch S., Wilkinson M.F., Laurentino S., Gromoll J.; RT "The human RHOX gene cluster: target genes and functional analysis of gene RT variants in infertile men."; RL Hum. Mol. Genet. 25:4898-4910(2016). CC -!- FUNCTION: Transcription factor maybe involved in reproductive CC processes. Modulates expression of target genes encoding proteins CC involved in processes relevant to spermatogenesis. CC {ECO:0000269|PubMed:28171660}. CC -!- SUBUNIT: Does not interact with itself. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, CC ECO:0000269|PubMed:11980563}. CC -!- TISSUE SPECIFICITY: Ovary, testis and epididymis. Also detected in the CC prostate and the mammary gland. Expressed in many tumor cell lines CC derived from acute lymphocytic leukemia, prostate, endometrial CC adenocarcinoma, melanoma, bladder carcinoma, colon carcinoma, CC erythroleukemia and breast carcinoma. Not expressed in placenta. In CC testis, mainly expressed in germ cells, but also detected in somatic CC cells such as Sertoli cells, Leydig cells and peritubular cells CC (PubMed:28171660). {ECO:0000269|PubMed:12490318, CC ECO:0000269|PubMed:28171660}. CC -!- DEVELOPMENTAL STAGE: Predominantly expressed in late stage germ cells, CC pachytene spermatocytes and round spermatides. CC {ECO:0000269|PubMed:28171660}. CC -!- INDUCTION: By androgen. CC -!- DOMAIN: Mutagenesis of amino acids 147 to 164 and 155 to 164 lead to a CC major cytoplasmic localization, with only minor localization in the CC nucleus. CC -!- SIMILARITY: Belongs to the paired-like homeobox family. PEPP subfamily. CC {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAC78617.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; 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; AY099086; AAM22794.1; -; mRNA. DR EMBL; AC005023; AAC78617.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC069324; AAH69324.1; -; mRNA. DR EMBL; BC069529; AAH69529.1; -; mRNA. DR EMBL; BC103857; AAI03858.1; -; mRNA. DR EMBL; BC103858; AAI03859.1; -; mRNA. DR CCDS; CCDS14593.1; -. DR RefSeq; NP_644811.1; NM_139282.2. DR SMR; Q8NHV9; -. DR BioGrid; 127708; 2. DR IntAct; Q8NHV9; 2. DR STRING; 9606.ENSP00000217999; -. DR BioMuta; RHOXF1; -. DR DMDM; 37537960; -. DR MassIVE; Q8NHV9; -. DR PaxDb; Q8NHV9; -. DR PeptideAtlas; Q8NHV9; -. DR PRIDE; Q8NHV9; -. DR ProteomicsDB; 73767; -. DR DNASU; 158800; -. DR Ensembl; ENST00000217999; ENSP00000217999; ENSG00000101883. DR GeneID; 158800; -. DR KEGG; hsa:158800; -. DR UCSC; uc004esk.2; human. DR CTD; 158800; -. DR GeneCards; RHOXF1; -. DR HGNC; HGNC:29993; RHOXF1. DR HPA; HPA056506; -. DR MIM; 300446; gene. DR neXtProt; NX_Q8NHV9; -. DR OpenTargets; ENSG00000101883; -. DR PharmGKB; PA162401287; -. DR eggNOG; KOG0490; Eukaryota. DR eggNOG; ENOG410YIJ3; LUCA. DR GeneTree; ENSGT00940000163385; -. DR HOGENOM; CLU_118646_0_0_1; -. DR InParanoid; Q8NHV9; -. DR OMA; DDCVYIV; -. DR OrthoDB; 1270742at2759; -. DR PhylomeDB; Q8NHV9; -. DR TreeFam; TF339348; -. DR GeneWiki; RHOXF1; -. DR GenomeRNAi; 158800; -. DR Pharos; Q8NHV9; Tbio. DR PRO; PR:Q8NHV9; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q8NHV9; protein. DR Bgee; ENSG00000101883; Expressed in right hemisphere of cerebellum and 88 other tissues. DR Genevisible; Q8NHV9; HS. DR GO; GO:0000790; C:nuclear chromatin; ISA:NTNU_SB. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0003677; F:DNA binding; NAS:UniProtKB. DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB. DR GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IBA:GO_Central. DR GO; GO:0007276; P:gamete generation; NAS:UniProtKB. DR GO; GO:0030518; P:intracellular steroid hormone receptor signaling pathway; NAS:UniProtKB. DR GO; GO:0007275; P:multicellular organism development; NAS:UniProtKB. DR GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB. DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:UniProtKB. DR GO; GO:0019953; P:sexual reproduction; IEP:UniProtKB. DR CDD; cd00086; homeodomain; 1. DR InterPro; IPR009057; Homeobox-like_sf. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR001356; Homeobox_dom. DR InterPro; IPR000047; HTH_motif. DR Pfam; PF00046; Homeodomain; 1. DR PRINTS; PR00031; HTHREPRESSR. DR SMART; SM00389; HOX; 1. DR SUPFAM; SSF46689; SSF46689; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. PE 1: Evidence at protein level; KW DNA-binding; Homeobox; Nucleus; Polymorphism; Reference proteome; KW Transcription; Transcription regulation. FT CHAIN 1..184 FT /note="Rhox homeobox family member 1" FT /id="PRO_0000049245" FT DNA_BIND 103..162 FT /note="Homeobox" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108" FT MOTIF 155..164 FT /note="Nuclear localization signal" FT VARIANT 172 FT /note="R -> H (found in infertile men; unknown pathological FT significance; no effect on induction of target genes FT expression; dbSNP:rs2301977)" FT /evidence="ECO:0000269|PubMed:28171660" FT /id="VAR_049587" FT VARIANT 177 FT /note="D -> H (in dbSNP:rs138060880)" FT /evidence="ECO:0000269|PubMed:26506222" FT /id="VAR_077002" SQ SEQUENCE 184 AA; 20542 MW; 90C67C7ACA2B292B CRC64; MARSLVHDTV FYCLSVYQVK ISPTPQLGAA SSAEGHVGQG APGLMGNMNP EGGVNHENGM NRDGGMIPEG GGGNQEPRQQ PQPPPEEPAQ AAMEGPQPEN MQPRTRRTKF TLLQVEELES VFRHTQYPDV PTRRELAENL GVTEDKVRVW FKNKRARCRR HQRELMLANE LRADPDDCVY IVVD //