UniProtKB - Q33E94 (RFX4_HUMAN)
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Protein
Transcription factor RFX4
Gene
RFX4
Organism
Homo sapiens (Human)
Status
Functioni
May activate transcription by interacting directly with the X-box.By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 44 – 126 | Add BLAST | 83 | |
DNA bindingi | 61 – 136 | RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST | 76 |
GO - Molecular functioni
- chromatin binding Source: Ensembl
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- cerebellar cortex morphogenesis Source: Ensembl
- cilium assembly Source: GO_Central
- dorsal spinal cord development Source: Ensembl
- midbrain development Source: Ensembl
- negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning Source: GO_Central
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of protein processing Source: Ensembl
- telencephalon development Source: Ensembl
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
SIGNORi | Q33E94. |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor RFX4Alternative name(s): Regulatory factor X 4 Testis development protein NYD-SP10 |
Gene namesi | Name:RFX4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000111783.12. |
HGNCi | HGNC:9985. RFX4. |
MIMi | 603958. gene. |
neXtProti | NX_Q33E94. |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 5992. |
OpenTargetsi | ENSG00000111783. |
PharmGKBi | PA34355. |
Polymorphism and mutation databases
BioMutai | RFX4. |
DMDMi | 332278145. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000314237 | 1 – 735 | Transcription factor RFX4Add BLAST | 735 |
Proteomic databases
PaxDbi | Q33E94. |
PeptideAtlasi | Q33E94. |
PRIDEi | Q33E94. |
PTM databases
iPTMneti | Q33E94. |
PhosphoSitePlusi | Q33E94. |
Expressioni
Tissue specificityi
Isoform 4 is testis-specific. Isoform 1 is expressed in brain and gliomas. Isoform 2 and isoform 3 are testis-specific (at protein level). Isoform 1 is expressed in brain (at protein level). Isoform 3 is expressed at a higher level in adult testes and ejaculated spematozoa than in fetal testes.3 Publications
Gene expression databases
Bgeei | ENSG00000111783. |
ExpressionAtlasi | Q33E94. baseline and differential. |
Genevisiblei | Q33E94. HS. |
Organism-specific databases
HPAi | HPA050527. |
Interactioni
Subunit structurei
Homodimer. Heterodimer with RFX2 and RFX3. Binds DNA.
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
tax | P14079 | 3 | EBI-9675925,EBI-9675698 | From Human T-cell leukemia virus 1 (isolate Caribbea HS-35 subtype A). |
Protein-protein interaction databases
BioGridi | 111924. 4 interactors. |
IntActi | Q33E94. 1 interactor. |
MINTi | Q33E94. |
STRINGi | 9606.ENSP00000350552. |
Structurei
3D structure databases
ProteinModelPortali | Q33E94. |
SMRi | Q33E94. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 315 – 487 | Necessary for dimerizationAdd BLAST | 173 |
Sequence similaritiesi
Belongs to the RFX family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | ENOG410IT81. Eukaryota. ENOG410XSKJ. LUCA. |
GeneTreei | ENSGT00550000074532. |
HOGENOMi | HOG000013104. |
HOVERGENi | HBG101271. |
InParanoidi | Q33E94. |
KOi | K09174. |
OMAi | QLPCMRS. |
OrthoDBi | EOG091G01JI. |
TreeFami | TF321340. |
Family and domain databases
Gene3Di | 1.10.10.10. 1 hit. |
InterProi | View protein in InterPro IPR003150. DNA-bd_RFX. IPR036388. WH-like_DNA-bd_sf. IPR036390. WH_DNA-bd_sf. |
Pfami | View protein in Pfam PF02257. RFX_DNA_binding. 1 hit. |
SUPFAMi | SSF46785. SSF46785. 1 hit. |
PROSITEi | View protein in PROSITE PS51526. RFX_DBD. 1 hit. |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q33E94-1) [UniParc]FASTAAdd to basket
Also known as: RFX4-D, RFX4_v3
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.
10 20 30 40 50
MHCGLLEEPD MDSTESWIER CLNESENKRY SSHTSLGNVS NDENEEKENN
60 70 80 90 100
RASKPHSTPA TLQWLEENYE IAEGVCIPRS ALYMHYLDFC EKNDTQPVNA
110 120 130 140 150
ASFGKIIRQQ FPQLTTRRLG TRGQSKYHYY GIAVKESSQY YDVMYSKKGA
160 170 180 190 200
AWVSETGKKE VSKQTVAYSP RSKLGTLLPE FPNVKDLNLP ASLPEEKVST
210 220 230 240 250
FIMMYRTHCQ RILDTVIRAN FDEVQSFLLH FWQGMPPHML PVLGSSTVVN
260 270 280 290 300
IVGVCDSILY KAISGVLMPT VLQALPDSLT QVIRKFAKQL DEWLKVALHD
310 320 330 340 350
LPENLRNIKF ELSRRFSQIL RRQTSLNHLC QASRTVIHSA DITFQMLEDW
360 370 380 390 400
RNVDLNSITK QTLYTMEDSR DEHRKLITQL YQEFDHLLEE QSPIESYIEW
410 420 430 440 450
LDTMVDRCVV KVAAKRQGSL KKVAQQFLLM WSCFGTRVIR DMTLHSAPSF
460 470 480 490 500
GSFHLIHLMF DDYVLYLLES LHCQERANEL MRAMKGEGST AEVREEIILT
510 520 530 540 550
EAAAPTPSPV PSFSPAKSAT SVEVPPPSSP VSNPSPEYTG LSTTGAMQSY
560 570 580 590 600
TWSLTYTVTT AAGSPAENSQ QLPCMRNTHV PSSSVTHRIP VYPHREEHGY
610 620 630 640 650
TGSYNYGSYG NQHPHPMQSQ YPALPHDTAI SGPLHYAPYH RSSAQYPFNS
660 670 680 690 700
PTSRMEPCLM SSTPRLHPTP VTPRWPEVPS ANTCYTSPSV HSARYGNSSD
710 720 730
MYTPLTTRRN SEYEHMQHFP GFAYINGEAS TGWAK
Sequence cautioni
The sequence BAC11288 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAE48237 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAE48238 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 417 | Q → R in AAK17191 (PubMed:16193984).Curated | 1 | |
Sequence conflicti | 423 | V → E in BAC11288 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 477 | A → T in AAH28582 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 522 | V → M in AAM52484 (PubMed:12925582).Curated | 1 | |
Sequence conflicti | 549 | S → A in BAE48231 (PubMed:16271074).Curated | 1 | |
Sequence conflicti | 549 | S → A in BAE48237 (PubMed:16271074).Curated | 1 | |
Sequence conflicti | 549 | S → A in BAE48238 (PubMed:16271074).Curated | 1 | |
Sequence conflicti | 549 | S → A in AAK17191 (PubMed:16193984).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037873 | 687 | S → N2 Publications | 1 | |
Natural variantiVAR_057152 | 698 | S → A. Corresponds to variant dbSNP:rs17038766Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030242 | 1 – 94 | Missing in isoform 3. 3 PublicationsAdd BLAST | 94 | |
Alternative sequenceiVSP_030243 | 1 – 12 | MHCGL…EPDMD → MIKRRAHPGAGGDRTRPRRR R in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 12 | |
Alternative sequenceiVSP_030244 | 95 – 126 | TQPVN…RGQSK → MNWAAFGGSEFFIPEGIQID SRCPLSRNITEW in isoform 3. 3 PublicationsAdd BLAST | 32 | |
Alternative sequenceiVSP_030245 | 546 – 554 | AMQSYTWSL → NGKSFKNFG in isoform 4. 1 Publication | 9 | |
Alternative sequenceiVSP_030246 | 555 – 735 | Missing in isoform 4. 1 PublicationAdd BLAST | 181 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY102009 mRNA. Translation: AAM52484.1. AB095365 mRNA. Translation: BAE48231.1. AB095366 mRNA. Translation: BAE48232.1. AB195784 mRNA. Translation: BAE48237.1. Different initiation. AB195785 mRNA. Translation: BAE48238.1. Different initiation. AF332192 mRNA. Translation: AAK17191.1. AK074913 mRNA. Translation: BAC11288.1. Different initiation. AK291445 mRNA. Translation: BAF84134.1. AK315698 mRNA. Translation: BAG38061.1. AC009721 Genomic DNA. No translation available. AC079385 Genomic DNA. No translation available. CH471054 Genomic DNA. Translation: EAW97783.1. CH471054 Genomic DNA. Translation: EAW97784.1. CH471054 Genomic DNA. Translation: EAW97782.1. BC028582 mRNA. Translation: AAH28582.1. BC030644 mRNA. Translation: AAH30644.1. AB044245 mRNA. Translation: BAB59001.1. Sequence problems. AL833921 mRNA. Translation: CAD38777.1. |
CCDSi | CCDS55880.1. [Q33E94-2] CCDS9106.1. [Q33E94-1] CCDS9108.1. [Q33E94-3] |
RefSeqi | NP_001193620.1. NM_001206691.1. [Q33E94-2] NP_115880.2. NM_032491.5. [Q33E94-3] NP_998759.1. NM_213594.2. [Q33E94-1] |
UniGenei | Hs.388827. |
Genome annotation databases
Ensembli | ENST00000229387; ENSP00000229387; ENSG00000111783. [Q33E94-3] ENST00000357881; ENSP00000350552; ENSG00000111783. [Q33E94-2] ENST00000392842; ENSP00000376585; ENSG00000111783. [Q33E94-1] |
GeneIDi | 5992. |
KEGGi | hsa:5992. |
UCSCi | uc001tlr.4. human. [Q33E94-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | RFX4_HUMAN | |
Accessioni | Q33E94Primary (citable) accession number: Q33E94 Secondary accession number(s): A8K5Y0 Q9BXI0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | May 3, 2011 | |
Last modified: | March 28, 2018 | |
This is version 112 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |