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Protein

DNA-binding protein RFX7

Gene

RFX7

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

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi11 – 86RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST76

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX7
Alternative name(s):
Regulatory factor X 7
Regulatory factor X domain-containing protein 2
Gene namesi
Name:RFX7
Synonyms:RFXDC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000181827.14
HGNCiHGNC:25777 RFX7
MIMi612660 gene
neXtProtiNX_Q2KHR2

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

DisGeNETi64864
OpenTargetsiENSG00000181827
PharmGKBiPA162401255

Polymorphism and mutation databases

BioMutaiRFX7
DMDMi121946796

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003421861 – 1363DNA-binding protein RFX7Add BLAST1363

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei225PhosphoserineCombined sources1
Modified residuei282PhosphoserineCombined sources1
Modified residuei321PhosphoserineCombined sources1
Modified residuei358PhosphoserineCombined sources1
Modified residuei467PhosphothreonineCombined sources1
Modified residuei565PhosphoserineCombined sources1
Modified residuei607N6-acetyllysineCombined sources1
Modified residuei891PhosphothreonineCombined sources1
Modified residuei1081PhosphoserineCombined sources1
Modified residuei1232PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ2KHR2
MaxQBiQ2KHR2
PaxDbiQ2KHR2
PeptideAtlasiQ2KHR2
PRIDEiQ2KHR2
ProteomicsDBi61305
61306 [Q2KHR2-2]

PTM databases

iPTMnetiQ2KHR2
PhosphoSitePlusiQ2KHR2

Expressioni

Gene expression databases

BgeeiENSG00000181827
CleanExiHS_RFX7
ExpressionAtlasiQ2KHR2 baseline and differential
GenevisibleiQ2KHR2 HS

Organism-specific databases

HPAiHPA035462

Interactioni

Subunit structurei

Interacts (via PxLPxI/L motif) with RFXANK (via ankyrin repeats) (PubMed:25752541). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats) (PubMed:25752541).1 PublicationImported

Protein-protein interaction databases

BioGridi122335, 4 interactors
ELMiQ2KHR2
IntActiQ2KHR2, 3 interactors
STRINGi9606.ENSP00000397644

Structurei

3D structure databases

ProteinModelPortaliQ2KHR2
SMRiQ2KHR2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi91 – 96PxLPxI/L motif; mediates interaction with ANKRA2 and RFXANK1 PublicationImported6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi538 – 541Poly-Ser4

Domaini

The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2 and RFXANK.1 PublicationImported

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IT80 Eukaryota
ENOG410XSVI LUCA
GeneTreeiENSGT00550000074532
HOGENOMiHOG000168347
HOVERGENiHBG098639
InParanoidiQ2KHR2
OMAiGDNQAQS
OrthoDBiEOG091G0LV2
PhylomeDBiQ2KHR2
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 (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q2KHR2-1) [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
MSSSRAQQMH AFSWIRNTLE EHPETSLPKQ EVYDEYKSYC DNLGYHPLSA
60 70 80 90 100
ADFGKIMKNV FPNMKARRLG TRGKSKYCYS GLRKKAFVHM PTLPNLDFHK
110 120 130 140 150
TGDGLEGAEP SGQLQNIDEE VISSACRLVC EWAQKVLSQP FDTVLELARF
160 170 180 190 200
LVKSHYIGTK SMAALTVMAA APAGMKGITQ PSAFIPTAES NSFQPQVKTL
210 220 230 240 250
PSPIDAKQQL QRKIQKKQQE QKLQSPLPGE SAAKKSESAT SNGVTNLPNG
260 270 280 290 300
NPSILSPQPI GIVVAAVPSP IPVQRTRQLV TSPSPMSSSD GKVLPLNVQV
310 320 330 340 350
VTQHMQSVKQ APKTPQNVPA SPGGDRSARH RYPQILPKPA NTSALTIRSP
360 370 380 390 400
TTVLFTSSPI KTAVVPASHM SSLNVVKMTT ISLTPSNSNT PLKHSASVSS
410 420 430 440 450
ATGTTEESRS VPQIKNGSVV SLQSPGSRSS SAGGTSAVEV KVEPETSSDE
460 470 480 490 500
HPVQCQENSD EAKAPQTPSA LLGQKSNTDG ALQKPSNEGV IEIKATKVCD
510 520 530 540 550
QRTKCKSRCN EMLPGTSTGN NQSTITLSVA SQNLTFTSSS SPPNGDSINK
560 570 580 590 600
DPKLCTKSPR KRLSSTLQET QVPPVKKPIV EQLSAATIEG QKQGSVKKDQ
610 620 630 640 650
KVPHSGKTEG STAGAQIPSK VSVNVSSHIG ANQPLNSSAL VISDSALEQQ
660 670 680 690 700
TTPSSSPDIK VKLEGSVFLL DSDSKSVGSF NPNGWQQITK DSEFISASCE
710 720 730 740 750
QQQDISVMTI PEHSDINDLE KSVWELEGMP QDTYSQQLHS QIQESSLNQI
760 770 780 790 800
QAHSSDQLPL QSELKEFEPS VSQTNESYFP FDDELTQDSI VEELVLMEQQ
810 820 830 840 850
MSMNNSHSYG NCLGMTLQSQ SVTPGAPMSS HTSSTHFYHP IHSNGTPIHT
860 870 880 890 900
PTPTPTPTPT PTPTPTPTSE MIAGSQSLSR ESPCSRLAQT TPVDSALGSS
910 920 930 940 950
RHTPIGTPHS NCSSSVPPSP VECRNPFAFT PISSSMAYHD ASIVSSSPVK
960 970 980 990 1000
PMQRPMATHP DKTKLEWMNN GYSGVGNSSV SGHGILPSYQ ELVEDRFRKP
1010 1020 1030 1040 1050
HAFAVPGQSY QSQSRHHDTH FGRLTPVSPV QHQGATVNNT NKQEGFAVPA
1060 1070 1080 1090 1100
PLDNKGTNSS ASSNFRCRSV SPAVHRQRNL SGSTLYPVSN IPRSNVTPFG
1110 1120 1130 1140 1150
SPVTPEVHVF TNVHTDACAN NIAQRSQSVP LTVMMQTAFP NALQKQANSK
1160 1170 1180 1190 1200
KITNVLLSKL DSDNDDAVRG LGMNNLPSNY TARMNLTQIL EPSTVFPSAN
1210 1220 1230 1240 1250
PQNMIDSSTS VYEFQTPSYL TKSNSTGQIN FSPGDNQAQS EIGEQQLDFN
1260 1270 1280 1290 1300
STVKDLLSGD SLQTNQQLVG QGASDLTNTA SDFSSDIRLS SELSGSINDL
1310 1320 1330 1340 1350
NTLDPNLLFD PGRQQGQDDE ATLEELKNDP LFQQICSESM NSMTSSGFEW
1360
IESKDHPTVE MLG
Length:1,363
Mass (Da):146,896
Last modified:March 7, 2006 - v1
Checksum:i6037DB7455278EAE
GO
Isoform 2 (identifier: Q2KHR2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1269-1363: VGQGASDLTN...KDHPTVEMLG → CSCPSSLLAGMQM

Show »
Length:1,281
Mass (Da):137,868
Checksum:iD1782B97E3342650
GO

Sequence cautioni

The sequence BAB14381 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14988 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC86441 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti511E → K in BAC86441 (PubMed:14702039).Curated1
Sequence conflicti739H → R in BAC87248 (PubMed:14702039).Curated1
Sequence conflicti1093R → Q in BAC87248 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044135434G → V. Corresponds to variant dbSNP:rs16976751Ensembl.1
Natural variantiVAR_044136677V → L. Corresponds to variant dbSNP:rs3803460Ensembl.1
Natural variantiVAR_0441371256L → P. Corresponds to variant dbSNP:rs33984059Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0343941269 – 1363VGQGA…VEMLG → CSCPSSLLAGMQM in isoform 2. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023056 mRNA Translation: BAB14381.1 Different initiation.
AK024757 mRNA Translation: BAB14988.1 Different initiation.
AK126103 mRNA Translation: BAC86441.1 Different initiation.
AK128045 mRNA Translation: BAC87248.1
AL834302 mRNA Translation: CAD38972.1
BC112936 mRNA Translation: AAI12937.1
RefSeqiNP_073752.5, NM_022841.5
XP_011520227.1, XM_011521925.2 [Q2KHR2-1]
XP_016877996.1, XM_017022507.1 [Q2KHR2-1]
XP_016877997.1, XM_017022508.1 [Q2KHR2-1]
UniGeneiHs.745089

Genome annotation databases

EnsembliENST00000559447; ENSP00000453281; ENSG00000181827 [Q2KHR2-1]
GeneIDi64864
KEGGihsa:64864
UCSCiuc059jng.1 human [Q2KHR2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRFX7_HUMAN
AccessioniPrimary (citable) accession number: Q2KHR2
Secondary accession number(s): Q6ZRR1
, Q6ZTY6, Q8N3J0, Q9H7A9, Q9H956
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: March 7, 2006
Last modified: June 20, 2018
This is version 111 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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