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Protein

Transcription factor RFX4

Gene

RFX4

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

Functioni

Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi44 – 126Add BLAST83
DNA bindingi61 – 136RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ33E94

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor RFX4
Alternative name(s):
Regulatory factor X 4
Testis development protein NYD-SP10
Gene namesi
Name:RFX4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111783.12
HGNCiHGNC:9985 RFX4
MIMi603958 gene
neXtProtiNX_Q33E94

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi5992
OpenTargetsiENSG00000111783
PharmGKBiPA34355

Polymorphism and mutation databases

BioMutaiRFX4
DMDMi332278145

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003142371 – 735Transcription factor RFX4Add BLAST735

Proteomic databases

PaxDbiQ33E94
PeptideAtlasiQ33E94
PRIDEiQ33E94
ProteomicsDBi61639
61640 [Q33E94-2]
61641 [Q33E94-3]
61642 [Q33E94-4]

PTM databases

iPTMnetiQ33E94
PhosphoSitePlusiQ33E94

Expressioni

Tissue specificityi

Isoform 1: Expressed in brain and gliomas (at protein level). Isoform 2: Testis-specific (at protein level). Isoform 3: Testis-specific (at protein level). Isoform 3: Expressed at a higher level in adult testes and ejaculated spematozoa than in fetal testes. Isoform 4: Testis-specific.3 Publications

Gene expression databases

BgeeiENSG00000111783
ExpressionAtlasiQ33E94 baseline and differential
GenevisibleiQ33E94 HS

Organism-specific databases

HPAiHPA050527

Interactioni

Subunit structurei

Homodimer. Heterodimer with RFX2 and RFX3 (PubMed:11682486). Interacts with GPS2 (By similarity).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
taxP140793EBI-9675925,EBI-9675698From Human T-cell leukemia virus 1 (isolate Caribbea HS-35 subtype A).

Protein-protein interaction databases

BioGridi111924, 4 interactors
IntActiQ33E94, 1 interactor
MINTiQ33E94
STRINGi9606.ENSP00000350552

Structurei

3D structure databases

ProteinModelPortaliQ33E94
SMRiQ33E94
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni315 – 487Necessary for dimerizationAdd BLAST173

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IT81 Eukaryota
ENOG410XSKJ LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000013104
HOVERGENiHBG101271
InParanoidiQ33E94
KOiK09174
OMAiQLPCMRS
OrthoDBiEOG091G01JI
TreeFamiTF321340

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR003150 DNA-bd_RFX
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF02257 RFX_DNA_binding, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51526 RFX_DBD, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative 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.

« Hide

        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
Length:735
Mass (Da):83,368
Last modified:May 3, 2011 - v2
Checksum:i9C2422428B9D7E8B
GO
Isoform 2 (identifier: Q33E94-2) [UniParc]FASTAAdd to basket
Also known as: RFX4-C, RFX4_v4

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR

Show »
Length:744
Mass (Da):84,479
Checksum:i5A36FF5CB5D8EFB7
GO
Isoform 3 (identifier: Q33E94-3) [UniParc]FASTAAdd to basket
Also known as: RFX4-A, RFX4_v1

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
     95-126: TQPVNAASFGKIIRQQFPQLTTRRLGTRGQSK → MNWAAFGGSEFFIPEGIQIDSRCPLSRNITEW

Show »
Length:641
Mass (Da):72,561
Checksum:i55FD9787E6771AF8
GO
Isoform 4 (identifier: Q33E94-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR
     546-554: AMQSYTWSL → NGKSFKNFG
     555-735: Missing.

Show »
Length:563
Mass (Da):64,181
Checksum:i67D9817BB0BC6B9E
GO

Sequence cautioni

The sequence BAB59001 differs from that shown. Probable intron retention.Curated
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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti417Q → R in AAK17191 (PubMed:16193984).Curated1
Sequence conflicti423V → E in BAC11288 (PubMed:14702039).Curated1
Sequence conflicti477A → T in AAH28582 (PubMed:15489334).Curated1
Sequence conflicti522V → M in AAM52484 (PubMed:12925582).Curated1
Sequence conflicti549S → A in BAE48231 (PubMed:16271074).Curated1
Sequence conflicti549S → A in BAE48237 (PubMed:16271074).Curated1
Sequence conflicti549S → A in BAE48238 (PubMed:16271074).Curated1
Sequence conflicti549S → A in AAK17191 (PubMed:16193984).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037873687S → N2 Publications1
Natural variantiVAR_057152698S → A. Corresponds to variant dbSNP:rs17038766Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0302421 – 94Missing in isoform 3. 3 PublicationsAdd BLAST94
Alternative sequenceiVSP_0302431 – 12MHCGL…EPDMD → MIKRRAHPGAGGDRTRPRRR R in isoform 2 and isoform 4. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_03024495 – 126TQPVN…RGQSK → MNWAAFGGSEFFIPEGIQID SRCPLSRNITEW in isoform 3. 3 PublicationsAdd BLAST32
Alternative sequenceiVSP_030245546 – 554AMQSYTWSL → NGKSFKNFG in isoform 4. 1 Publication9
Alternative sequenceiVSP_030246555 – 735Missing in isoform 4. 1 PublicationAdd BLAST181

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
CCDSiCCDS55880.1 [Q33E94-2]
CCDS9106.1 [Q33E94-1]
CCDS9108.1 [Q33E94-3]
RefSeqiNP_001193620.1, NM_001206691.1 [Q33E94-2]
NP_115880.2, NM_032491.5 [Q33E94-3]
NP_998759.1, NM_213594.2 [Q33E94-1]
UniGeneiHs.388827

Genome annotation databases

EnsembliENST00000229387; ENSP00000229387; ENSG00000111783 [Q33E94-3]
ENST00000357881; ENSP00000350552; ENSG00000111783 [Q33E94-2]
ENST00000392842; ENSP00000376585; ENSG00000111783 [Q33E94-1]
GeneIDi5992
KEGGihsa:5992
UCSCiuc001tlr.4 human [Q33E94-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRFX4_HUMAN
AccessioniPrimary (citable) accession number: Q33E94
Secondary accession number(s): A8K5Y0
, B2RDW4, Q33DW6, Q33DW7, Q33E95, Q6YM53, Q8MHQ1, Q8NC78, Q8NDF9, Q8SNA1, Q96S80, Q9BXI0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 3, 2011
Last modified: June 20, 2018
This is version 115 of the entry and version 2 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 12
    Human chromosome 12: 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

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