RFX7

Protein identityUniProt · HPA

UniProt accession

Q2KHR2

Gene

RFX7

Ensembl

ENSG00000181827

Chromosome

15

Canonical length

1460 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear membrane

OverviewNCBI Gene

RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

Canonical amino-acid sequenceUniProt

1460 residues, UniProt reviewed canonical sequence.

>Q2KHR2|RFX7
     1  MAEEQQQPPP QQPDAHQQLP PSAPNSGVAL PALVPGLPGT EASALQHKIK NSICKTVQSK
    61  VDCILQEVEK FTDLEKLYLY LQLPSGLSNG EKSDQNAMSS SRAQQMHAFS WIRNTLEEHP
   121  ETSLPKQEVY DEYKSYCDNL GYHPLSAADF GKIMKNVFPN MKARRLGTRG KSKYCYSGLR
   181  KKAFVHMPTL PNLDFHKTGD GLEGAEPSGQ LQNIDEEVIS SACRLVCEWA QKVLSQPFDT
   241  VLELARFLVK SHYIGTKSMA ALTVMAAAPA GMKGITQPSA FIPTAESNSF QPQVKTLPSP
   301  IDAKQQLQRK IQKKQQEQKL QSPLPGESAA KKSESATSNG VTNLPNGNPS ILSPQPIGIV
   361  VAAVPSPIPV QRTRQLVTSP SPMSSSDGKV LPLNVQVVTQ HMQSVKQAPK TPQNVPASPG
   421  GDRSARHRYP QILPKPANTS ALTIRSPTTV LFTSSPIKTA VVPASHMSSL NVVKMTTISL
   481  TPSNSNTPLK HSASVSSATG TTEESRSVPQ IKNGSVVSLQ SPGSRSSSAG GTSAVEVKVE
   541  PETSSDEHPV QCQENSDEAK APQTPSALLG QKSNTDGALQ KPSNEGVIEI KATKVCDQRT
   601  KCKSRCNEML PGTSTGNNQS TITLSVASQN LTFTSSSSPP NGDSINKDPK LCTKSPRKRL
   661  SSTLQETQVP PVKKPIVEQL SAATIEGQKQ GSVKKDQKVP HSGKTEGSTA GAQIPSKVSV
   721  NVSSHIGANQ PLNSSALVIS DSALEQQTTP SSSPDIKVKL EGSVFLLDSD SKSVGSFNPN
   781  GWQQITKDSE FISASCEQQQ DISVMTIPEH SDINDLEKSV WELEGMPQDT YSQQLHSQIQ
   841  ESSLNQIQAH SSDQLPLQSE LKEFEPSVSQ TNESYFPFDD ELTQDSIVEE LVLMEQQMSM
   901  NNSHSYGNCL GMTLQSQSVT PGAPMSSHTS STHFYHPIHS NGTPIHTPTP TPTPTPTPTP
   961  TPTPTSEMIA GSQSLSRESP CSRLAQTTPV DSALGSSRHT PIGTPHSNCS SSVPPSPVEC
  1021  RNPFAFTPIS SSMAYHDASI VSSSPVKPMQ RPMATHPDKT KLEWMNNGYS GVGNSSVSGH
  1081  GILPSYQELV EDRFRKPHAF AVPGQSYQSQ SRHHDTHFGR LTPVSPVQHQ GATVNNTNKQ
  1141  EGFAVPAPLD NKGTNSSASS NFRCRSVSPA VHRQRNLSGS TLYPVSNIPR SNVTPFGSPV
  1201  TPEVHVFTNV HTDACANNIA QRSQSVPLTV MMQTAFPNAL QKQANSKKIT NVLLSKLDSD
  1261  NDDAVRGLGM NNLPSNYTAR MNLTQILEPS TVFPSANPQN MIDSSTSVYE FQTPSYLTKS
  1321  NSTGQINFSP GDNQAQSEIG EQQLDFNSTV KDLLSGDSLQ TNQQLVGQGA SDLTNTASDF
  1381  SSDIRLSSEL SGSINDLNTL DPNLLFDPGR QQGQDDEATL EELKNDPLFQ QICSESMNSM
  1441  TSSGFEWIES KDHPTVEMLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RFX7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RFX7.

Disease | AllUniProt

Conditions RFX7 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities (MRD71) MIM:620330

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 359 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
• Inborn genetic diseases
• See cases
• RFX7-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.13

gnomAD pLI

1

gnomAD missense Z

1.6

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II core promoter sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• DNA-binding RFX-type winged-helix domain
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• RFX-like DNA-binding protein
• RFX DNA-binding domain
• RFX5 N-terminal domain

KeywordsUniProt

• Acetylation
• Autism spectrum disorder
• DNA-binding
• Intellectual disability
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of RFX7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ANKRA2
• RFXANK