RHXF1_HUMAN
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 03-AUG-2022, entry version 154.
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 -!- INTERACTION:
CC Q8NHV9; Q9BXW4: MAP1LC3C; NbExp=3; IntAct=EBI-3923409, EBI-2603996;
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};
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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 AlphaFoldDB; Q8NHV9; -.
DR SMR; Q8NHV9; -.
DR BioGRID; 127708; 3.
DR IntAct; Q8NHV9; 3.
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 Antibodypedia; 29868; 137 antibodies from 25 providers.
DR DNASU; 158800; -.
DR Ensembl; ENST00000217999.3; ENSP00000217999.1; ENSG00000101883.5.
DR GeneID; 158800; -.
DR KEGG; hsa:158800; -.
DR MANE-Select; ENST00000217999.3; ENSP00000217999.1; NM_139282.3; NP_644811.1.
DR UCSC; uc004esk.2; human.
DR CTD; 158800; -.
DR DisGeNET; 158800; -.
DR GeneCards; RHOXF1; -.
DR HGNC; HGNC:29993; RHOXF1.
DR HPA; ENSG00000101883; Tissue enriched (testis).
DR MIM; 300446; gene.
DR neXtProt; NX_Q8NHV9; -.
DR OpenTargets; ENSG00000101883; -.
DR PharmGKB; PA162401287; -.
DR VEuPathDB; HostDB:ENSG00000101883; -.
DR eggNOG; KOG0490; Eukaryota.
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 PathwayCommons; Q8NHV9; -.
DR SignaLink; Q8NHV9; -.
DR BioGRID-ORCS; 158800; 14 hits in 722 CRISPR screens.
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 testis and 92 other tissues.
DR Genevisible; Q8NHV9; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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 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:0030521; P:androgen receptor signaling pathway; IEP:UniProtKB.
DR GO; GO:0048484; P:enteric nervous system development; IBA:GO_Central.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS: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; Reference proteome; Transcription;
KW 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 REGION 26..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
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
