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Rhox homeobox family member 1 (Ovary-, testis- and epididymis-expressed gene protein) (Paired-like homeobox protein PEPP-1)

 RHXF1_HUMAN             Reviewed;         184 AA.
Q8NHV9; O95030; Q3SYE0;
03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
27-SEP-2017, entry version 125.
RecName: Full=Rhox homeobox family member 1 {ECO:0000305};
AltName: Full=Ovary-, testis- and epididymis-expressed gene protein;
AltName: Full=Paired-like homeobox protein PEPP-1;
Name=RHOXF1 {ECO:0000312|HGNC:HGNC:29993}; Synonyms=OTEX, PEPP1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, AND MUTAGENESIS OF
THE NUCLEAR LOCALIZATION SIGNAL.
TISSUE=Ovary, and Testis;
PubMed=11980563; DOI=10.1042/BJ20020399;
Geserick C., Weiss B., Schleuning W.-D., Haendler B.;
"OTEX, an androgen-regulated human member of the paired-like class of
homeobox genes.";
Biochem. J. 366:367-375(2002).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
TISSUE SPECIFICITY.
PubMed=12490318; DOI=10.1016/S0378-1119(02)01087-9;
Wayne C.M., MacLean J.A. II, Cornwall G., Wilkinson M.F.;
"Two novel human X-linked homeobox genes, hPEPP1 and hPEPP2,
selectively expressed in the testis.";
Gene 301:1-11(2002).
[5]
VARIANT HIS-177.
PubMed=26506222; DOI=10.1002/ana.24550;
Park H.J., Hong Y.B., Choi Y.C., Lee J., Kim E.J., Lee J.S., Mo W.M.,
Ki S.M., Kim H.I., Kim H.J., Hyun Y.S., Hong H.D., Nam K., Jung S.C.,
Kim S.B., Kim S.H., Kim D.H., Oh K.W., Kim S.H., Yoo J.H., Lee J.E.,
Chung K.W., Choi B.O.;
"ADSSL1 mutation relevant to autosomal recessive adolescent onset
distal myopathy.";
Ann. Neurol. 79:231-243(2016).
[6]
FUNCTION, TISSUE SPECIFICITY, VARIANT HIS-172, AND CHARACTERIZATION OF
VARIANT HIS-172.
PubMed=28171660; DOI=10.1093/hmg/ddw313;
Borgmann J., Tuettelmann F., Dworniczak B., Roepke A., Song H.W.,
Kliesch S., Wilkinson M.F., Laurentino S., Gromoll J.;
"The human RHOX gene cluster: target genes and functional analysis of
gene variants in infertile men.";
Hum. Mol. Genet. 25:4898-4910(2016).
-!- FUNCTION: Transcription factor maybe involved in reproductive
processes. Modulates expression of target genes encoding proteins
involved in processes relevant to spermatogenesis.
{ECO:0000269|PubMed:28171660}.
-!- SUBUNIT: Does not interact with itself.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00108, ECO:0000269|PubMed:11980563}.
-!- TISSUE SPECIFICITY: Ovary, testis and epididymis. Also detected in
the prostate and the mammary gland. Expressed in many tumor cell
lines derived from acute lymphocytic leukemia, prostate,
endometrial adenocarcinoma, melanoma, bladder carcinoma, colon
carcinoma, erythroleukemia and breast carcinoma. Not expressed in
placenta. In testis, mainly expressed in germ cells, but also
detected in somatic cells such as Sertoli cells, Leydig cells and
peritubular cells (PubMed:28171660). {ECO:0000269|PubMed:12490318,
ECO:0000269|PubMed:28171660}.
-!- DEVELOPMENTAL STAGE: Predominantly expressed in late stage germ
cells, pachytene spermatocytes and round spermatides.
{ECO:0000269|PubMed:28171660}.
-!- INDUCTION: By androgen.
-!- DOMAIN: Mutagenesis of amino acids 147 to 164 and 155 to 164 lead
to a major cytoplasmic localization, with only minor localization
in the nucleus.
-!- SIMILARITY: Belongs to the paired-like homeobox family. PEPP
subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAC78617.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AY099086; AAM22794.1; -; mRNA.
EMBL; AC005023; AAC78617.1; ALT_SEQ; Genomic_DNA.
EMBL; BC069324; AAH69324.1; -; mRNA.
EMBL; BC069529; AAH69529.1; -; mRNA.
EMBL; BC103857; AAI03858.1; -; mRNA.
EMBL; BC103858; AAI03859.1; -; mRNA.
CCDS; CCDS14593.1; -.
RefSeq; NP_644811.1; NM_139282.2.
UniGene; Hs.644617; -.
ProteinModelPortal; Q8NHV9; -.
SMR; Q8NHV9; -.
BioGrid; 127708; 2.
IntAct; Q8NHV9; 1.
STRING; 9606.ENSP00000217999; -.
DMDM; 37537960; -.
PaxDb; Q8NHV9; -.
PeptideAtlas; Q8NHV9; -.
PRIDE; Q8NHV9; -.
DNASU; 158800; -.
Ensembl; ENST00000217999; ENSP00000217999; ENSG00000101883.
GeneID; 158800; -.
KEGG; hsa:158800; -.
UCSC; uc004esk.2; human.
CTD; 158800; -.
EuPathDB; HostDB:ENSG00000101883.4; -.
GeneCards; RHOXF1; -.
HGNC; HGNC:29993; RHOXF1.
HPA; HPA056506; -.
MIM; 300446; gene.
neXtProt; NX_Q8NHV9; -.
OpenTargets; ENSG00000101883; -.
PharmGKB; PA162401287; -.
eggNOG; KOG0490; Eukaryota.
eggNOG; ENOG410YIJ3; LUCA.
GeneTree; ENSGT00820000127081; -.
HOGENOM; HOG000154120; -.
InParanoid; Q8NHV9; -.
OMA; GNMNPEG; -.
OrthoDB; EOG091G0ZM6; -.
PhylomeDB; Q8NHV9; -.
TreeFam; TF339348; -.
GeneWiki; RHOXF1; -.
GenomeRNAi; 158800; -.
PRO; PR:Q8NHV9; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000101883; -.
CleanEx; HS_RHOXF1; -.
Genevisible; Q8NHV9; HS.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; NAS:UniProtKB.
GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; NAS:UniProtKB.
GO; GO:0007276; P:gamete generation; NAS:UniProtKB.
GO; GO:0030518; P:intracellular steroid hormone receptor signaling pathway; NAS:UniProtKB.
GO; GO:0007275; P:multicellular organism development; NAS:UniProtKB.
GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:UniProtKB.
GO; GO:0019953; P:sexual reproduction; IEP:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR000047; HTH_motif.
Pfam; PF00046; Homeobox; 1.
PRINTS; PR00031; HTHREPRESSR.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Complete proteome; DNA-binding; Homeobox; Nucleus; Polymorphism;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 184 Rhox homeobox family member 1.
/FTId=PRO_0000049245.
DNA_BIND 103 162 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
MOTIF 155 164 Nuclear localization signal.
VARIANT 172 172 R -> H (found in infertile men; unknown
pathological significance; no effect on
induction of target genes expression;
dbSNP:rs2301977).
{ECO:0000269|PubMed:28171660}.
/FTId=VAR_049587.
VARIANT 177 177 D -> H (in dbSNP:rs138060880).
{ECO:0000269|PubMed:26506222}.
/FTId=VAR_077002.
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


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