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Protein

DNA-binding protein RFX2

Gene

Rfx2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor that acts as a key regulator of spermatogenesis (PubMed:26248850, PubMed:26162102, PubMed:26853561). Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (PubMed:26162102, PubMed:26853561). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:15229132, PubMed:26162102). Probably activates transcription of the testis-specific histone gene HIST1H1T (PubMed:15229132).4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi194 – 269RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • acrosome assembly Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • spermatid development Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Differentiation, Spermatogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX2
Alternative name(s):
Regulatory factor X 2
Gene namesi
Name:Rfx2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 17

Organism-specific databases

MGIiMGI:106583. Rfx2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotationBy similarity
  • Cytoplasm By similarity

  • Note: Mainly expressed in the nucleus and at lower level in cytoplasm.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice are perfectly viable but show complete male sterility (PubMed:26248850, PubMed:26162102, PubMed:26853561). Spermatogenesis proceeds normally through meiosis. However, haploid cells undergo a complete arrest in spermatid development before spermatid elongation (PubMed:26248850, PubMed:26162102). Arrested cells show altered Golgi apparatus organization, leading to a deficit in the generation of a spreading acrosomal cap from proacrosomal vesicles and merge to form giant multinucleated cells released to the epididymis. Spermatids also completely fail to form the flagellar axoneme (PubMed:26162102).3 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002152891 – 717DNA-binding protein RFX2Add BLAST717

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei26PhosphoserineBy similarity1
Modified residuei411PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP48379.
PaxDbiP48379.
PeptideAtlasiP48379.
PRIDEiP48379.

PTM databases

iPTMnetiP48379.
PhosphoSitePlusiP48379.

Expressioni

Developmental stagei

Detected in the anterior primitive streak preceding the morphological appearance of the node at embryonic day 7.0 (E7.0). Expressed in the node and in the midline notochordal plate cells extending anteriorly from the node at E7.5. At E8.5, expressed in the node now located in the tail region. At E9.5, detected in the floor plate and in the dorsal portion of the neural tube, with highest expression in the anterior portion of the spinal cord. Also expressed in the developing gut. At E10.5, also observed in the telencephalon region of the brain and in the anterior portion of the limb bud at E12.5 (PubMed:26248850). Localizes to cells at the posterior margin of the ciliated organ of asymmetry (PubMed:22233545).2 Publications

Gene expression databases

BgeeiENSMUSG00000024206.
GenevisibleiP48379. MM.

Interactioni

Subunit structurei

Homodimer; probably only forms homodimers in testis (PubMed:15229132). Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:15229132).1 Publication

Protein-protein interaction databases

BioGridi202873. 4 interactors.
IntActiP48379. 2 interactors.
STRINGi10090.ENSMUSP00000002444.

Structurei

3D structure databases

ProteinModelPortaliP48379.
SMRiP48379.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation
Contains 1 RFX-type winged-helix DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3712. Eukaryota.
ENOG410XSHE. LUCA.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000294091.
HOVERGENiHBG002753.
InParanoidiP48379.
KOiK09173.
OMAiEAQIYAP.
OrthoDBiEOG091G0EID.
PhylomeDBiP48379.
TreeFamiTF321340.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P48379-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQNSEGGADS PASVALRPAA QPMPASPQRV LVQAAGSTPK GTPMQTLTLP
60 70 80 90 100
RVQPVPPQVQ HVYPAQVQYV EGGDAVYANG AIRAAYAYNP DPQLYAPSSA
110 120 130 140 150
ASYFETPGGT QVTVAASSPP AVPSHGMVGI TMDVSGTPIV SGAGAYLIHG
160 170 180 190 200
GMDGTRHSLA HTARSSPATL EMAIETLQKS EGLAPHKGGL LNSHLQWLLD
210 220 230 240 250
NYETAEGVSL PRSSLYNHYL RHCQEHKLEP VNAASFGKLI RSVFMGLRTR
260 270 280 290 300
RLGTRGNSKY HYYGIRLKPD SPLNRLQEDT QYMAMRQQPT HQKPRYRPAQ
310 320 330 340 350
KSDSLGDGSA HSNMHGMPDQ AMATQGQHHQ QYIDVSHVFP EFPAPDLGST
360 370 380 390 400
LLQESVTLHD VKALQLVYRR HCEATLDVVM NLQFQYIEKL WLSFWNCKAT
410 420 430 440 450
SSDSCASLPA SDEDPEVTLL PKEKLISLCK CEPILQWMRS CDHILYQTLV
460 470 480 490 500
ETLIPDVLRP VPSSLTQAIR NFAKSLEGWL INAMSGFPQQ VIQTKVGVVS
510 520 530 540 550
AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD FANVQEQASW
560 570 580 590 600
VCQCEESLVQ RLEHDFKVTL QQQSSLDQWA SWLDNVVTQV LKQHSGSPSF
610 620 630 640 650
PKAARQFLLK WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH
660 670 680 690 700
RVAQATGETP IAVMGEFNDL ASLSLTLLDK EDIGDGHSSE ADVDGRSLGE
710
PLVKRERSDP SHPLQGI
Length:717
Mass (Da):79,190
Last modified:July 28, 2009 - v2
Checksum:i3A0EBF008ECD8B61
GO
Isoform 2 (identifier: P48379-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-194: Missing.

Show »
Length:692
Mass (Da):76,534
Checksum:iE4A187A90CD88F81
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037812170 – 194Missing in isoform 2. 2 PublicationsAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76089 mRNA. Translation: CAA53703.1.
AK044439 mRNA. Translation: BAC31919.1.
BC004654 mRNA. Translation: AAH04654.1.
CCDSiCCDS28915.1. [P48379-2]
CCDS50156.1. [P48379-1]
PIRiC55926.
RefSeqiNP_033082.1. NM_009056.2. [P48379-2]
NP_082063.1. NM_027787.1. [P48379-1]
UniGeneiMm.102.

Genome annotation databases

EnsembliENSMUST00000002444; ENSMUSP00000002444; ENSMUSG00000024206. [P48379-1]
ENSMUST00000086801; ENSMUSP00000084010; ENSMUSG00000024206. [P48379-2]
GeneIDi19725.
KEGGimmu:19725.
UCSCiuc008ddf.2. mouse. [P48379-2]
uc008ddg.2. mouse. [P48379-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76089 mRNA. Translation: CAA53703.1.
AK044439 mRNA. Translation: BAC31919.1.
BC004654 mRNA. Translation: AAH04654.1.
CCDSiCCDS28915.1. [P48379-2]
CCDS50156.1. [P48379-1]
PIRiC55926.
RefSeqiNP_033082.1. NM_009056.2. [P48379-2]
NP_082063.1. NM_027787.1. [P48379-1]
UniGeneiMm.102.

3D structure databases

ProteinModelPortaliP48379.
SMRiP48379.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202873. 4 interactors.
IntActiP48379. 2 interactors.
STRINGi10090.ENSMUSP00000002444.

PTM databases

iPTMnetiP48379.
PhosphoSitePlusiP48379.

Proteomic databases

MaxQBiP48379.
PaxDbiP48379.
PeptideAtlasiP48379.
PRIDEiP48379.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000002444; ENSMUSP00000002444; ENSMUSG00000024206. [P48379-1]
ENSMUST00000086801; ENSMUSP00000084010; ENSMUSG00000024206. [P48379-2]
GeneIDi19725.
KEGGimmu:19725.
UCSCiuc008ddf.2. mouse. [P48379-2]
uc008ddg.2. mouse. [P48379-1]

Organism-specific databases

CTDi5990.
MGIiMGI:106583. Rfx2.

Phylogenomic databases

eggNOGiKOG3712. Eukaryota.
ENOG410XSHE. LUCA.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000294091.
HOVERGENiHBG002753.
InParanoidiP48379.
KOiK09173.
OMAiEAQIYAP.
OrthoDBiEOG091G0EID.
PhylomeDBiP48379.
TreeFamiTF321340.

Miscellaneous databases

PROiP48379.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000024206.
GenevisibleiP48379. MM.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR007668. RFX1_trans_act.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF04589. RFX1_trans_act. 1 hit.
PF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRFX2_MOUSE
AccessioniPrimary (citable) accession number: P48379
Secondary accession number(s): Q8BXR3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 28, 2009
Last modified: November 2, 2016
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.