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Protein

Rhox homeobox family member 1

Gene

RHOXF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi103 – 162HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • sequence-specific DNA binding Source: InterPro
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • gamete generation Source: UniProtKB
  • intracellular steroid hormone receptor signaling pathway Source: UniProtKB
  • multicellular organism development Source: UniProtKB
  • positive regulation of gene expression Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • sexual reproduction Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Rhox homeobox family member 1Curated
Alternative name(s):
Ovary-, testis- and epididymis-expressed gene protein
Paired-like homeobox protein PEPP-1
Gene namesi
Name:RHOXF1Imported
Synonyms:OTEX, PEPP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:29993. RHOXF1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000101883.
PharmGKBiPA162401287.

Polymorphism and mutation databases

DMDMi37537960.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492451 – 184Rhox homeobox family member 1Add BLAST184

Proteomic databases

PaxDbiQ8NHV9.
PeptideAtlasiQ8NHV9.
PRIDEiQ8NHV9.

Expressioni

Tissue specificityi

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).2 Publications

Developmental stagei

Predominantly expressed in late stage germ cells, pachytene spermatocytes and round spermatides.1 Publication

Inductioni

By androgen.

Gene expression databases

BgeeiENSG00000101883.
CleanExiHS_RHOXF1.
GenevisibleiQ8NHV9. HS.

Organism-specific databases

HPAiHPA056506.

Interactioni

Subunit structurei

Does not interact with itself.

Protein-protein interaction databases

BioGridi127708. 2 interactors.
IntActiQ8NHV9. 1 interactor.
STRINGi9606.ENSP00000217999.

Structurei

3D structure databases

ProteinModelPortaliQ8NHV9.
SMRiQ8NHV9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi155 – 164Nuclear localization signal10

Domaini

Mutagenesis of amino acids 147 to 164 and 155 to 164 lead to a major cytoplasmic localization, with only minor localization in the nucleus.

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000127081.
HOGENOMiHOG000154120.
InParanoidiQ8NHV9.
OMAiGNMNPEG.
OrthoDBiEOG091G0ZM6.
PhylomeDBiQ8NHV9.
TreeFamiTF339348.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR000047. HTH_motif.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00031. HTHREPRESSR.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8NHV9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MARSLVHDTV FYCLSVYQVK ISPTPQLGAA SSAEGHVGQG APGLMGNMNP
60 70 80 90 100
EGGVNHENGM NRDGGMIPEG GGGNQEPRQQ PQPPPEEPAQ AAMEGPQPEN
110 120 130 140 150
MQPRTRRTKF TLLQVEELES VFRHTQYPDV PTRRELAENL GVTEDKVRVW
160 170 180
FKNKRARCRR HQRELMLANE LRADPDDCVY IVVD
Length:184
Mass (Da):20,542
Last modified:October 1, 2002 - v1
Checksum:i90C67C7ACA2B292B
GO

Sequence cautioni

The sequence AAC78617 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049587172R → H Found in infertile men; unknown pathological significance; no effect on induction of target genes expression. 1 PublicationCorresponds to variant dbSNP:rs2301977Ensembl.1
Natural variantiVAR_077002177D → H1 PublicationCorresponds to variant dbSNP:rs138060880Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY099086 mRNA. Translation: AAM22794.1.
AC005023 Genomic DNA. Translation: AAC78617.1. Sequence problems.
BC069324 mRNA. Translation: AAH69324.1.
BC069529 mRNA. Translation: AAH69529.1.
BC103857 mRNA. Translation: AAI03858.1.
BC103858 mRNA. Translation: AAI03859.1.
CCDSiCCDS14593.1.
RefSeqiNP_644811.1. NM_139282.2.
UniGeneiHs.644617.

Genome annotation databases

EnsembliENST00000217999; ENSP00000217999; ENSG00000101883.
GeneIDi158800.
KEGGihsa:158800.
UCSCiuc004esk.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY099086 mRNA. Translation: AAM22794.1.
AC005023 Genomic DNA. Translation: AAC78617.1. Sequence problems.
BC069324 mRNA. Translation: AAH69324.1.
BC069529 mRNA. Translation: AAH69529.1.
BC103857 mRNA. Translation: AAI03858.1.
BC103858 mRNA. Translation: AAI03859.1.
CCDSiCCDS14593.1.
RefSeqiNP_644811.1. NM_139282.2.
UniGeneiHs.644617.

3D structure databases

ProteinModelPortaliQ8NHV9.
SMRiQ8NHV9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127708. 2 interactors.
IntActiQ8NHV9. 1 interactor.
STRINGi9606.ENSP00000217999.

Polymorphism and mutation databases

DMDMi37537960.

Proteomic databases

PaxDbiQ8NHV9.
PeptideAtlasiQ8NHV9.
PRIDEiQ8NHV9.

Protocols and materials databases

DNASUi158800.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000217999; ENSP00000217999; ENSG00000101883.
GeneIDi158800.
KEGGihsa:158800.
UCSCiuc004esk.2. human.

Organism-specific databases

CTDi158800.
GeneCardsiRHOXF1.
HGNCiHGNC:29993. RHOXF1.
HPAiHPA056506.
MIMi300446. gene.
neXtProtiNX_Q8NHV9.
OpenTargetsiENSG00000101883.
PharmGKBiPA162401287.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000127081.
HOGENOMiHOG000154120.
InParanoidiQ8NHV9.
OMAiGNMNPEG.
OrthoDBiEOG091G0ZM6.
PhylomeDBiQ8NHV9.
TreeFamiTF339348.

Miscellaneous databases

GeneWikiiRHOXF1.
GenomeRNAii158800.
PROiPR:Q8NHV9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101883.
CleanExiHS_RHOXF1.
GenevisibleiQ8NHV9. HS.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR000047. HTH_motif.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00031. HTHREPRESSR.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRHXF1_HUMAN
AccessioniPrimary (citable) accession number: Q8NHV9
Secondary accession number(s): O95030, Q3SYE0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 1, 2002
Last modified: May 10, 2017
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.