RC3H1

Protein identityUniProt · HPA

UniProt accession

Q5TC82

Gene

RC3H1

Ensembl

ENSG00000135870

Chromosome

1

Canonical length

1133 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Plasma membrane,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

1133 residues, UniProt reviewed canonical sequence.

>Q5TC82|RC3H1
     1  MPVQAPQWTD FLSCPICTQT FDETIRKPIS LGCGHTVCKM CLNKLHRKAC PFDQTTINTD
    61  IELLPVNSAL LQLVGAQVPE QQPITLCSGV EDTKHYEEAK KCVEELALYL KPLSSARGVG
   121  LNSTTQSVLS RPMQRKLVTL VHCQLVEEEG RIRAMRAARS LGERTVTELI LQHQNPQQLS
   181  SNLWAAVRAR GCQFLGPAMQ EEALKLVLLA LEDGSALSRK VLVLFVVQRL EPRFPQASKT
   241  SIGHVVQLLY RASCFKVTKR DEDSSLMQLK EEFRTYEALR REHDSQIVQI AMEAGLRIAP
   301  DQWSSLLYGD QSHKSHMQSI IDKLQTPASF AQSVQELTIA LQRTGDPANL NRLRPHLELL
   361  ANIDPSPDAP PPTWEQLENG LVAVRTVVHG LVDYIQNHSK KGADQQQPPQ HSKYKTYMCR
   421  DMKQRGGCPR GASCTFAHSQ EELEKFRKMN KRLVPRRPLS ASLGQLNEVG LPSAAILPDE
   481  GAVDLPSRKP PALPNGIVST GNTVTQLIPR GTDPSYDSSL KPGKIDHLSS SAPGSPPDLL
   541  ESVPKSISAL PVNPHSIPPR GPADLPPMPV TKPLQMVPRG SQLYPAQQTD VYYQDPRGAA
   601  PPFEPAPYQQ GMYYTPPPQC VSRFVRPPPS APEPAPPYLD HYPPYLQERV VNSQYGTQPQ
   661  QYPPIYPSHY DGRRVYPAPS YTREEIFRES PIPIEIPPAA VPSYVPESRE RYQQIESYYP
   721  VAPHPTQIRP SYLREPPYSR LPPPPQPHPS LDELHRRRKE IMAQLEERKV ISPPPFAPSP
   781  TLPPTFHPEE FLDEDLKVAG KYKGNDYSQY SPWSCDTIGS YIGTKDAKPK DVVAAGSVEM
   841  MNVESKGMRD QRLDLQRRAA ETSDDDLIPF GDRPTVSRFG AISRTSKTIY QGAGPMQAMA
   901  PQGAPTKSIN ISDYSPYGTH GGWGASPYSP HQNIPSQGHF SERERISMSE VASHGKPLPS
   961  AEREQLRLEL QQLNHQISQQ TQLRGLEAVS NRLVLQREAN TLAGQSQPPP PPPPKWPGMI
  1021  SSEQLSLELH QVEREIGKRT RELSMENQCS LDMKSKLNTS KQAENGQPEP QNKVPAEDLT
  1081  LTFSDVPNGS ALTQENISLL SNKTSSLNLS EDPEGGGDNN DSQRSGVTPS SAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RC3H1 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)

0.53

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RC3H1.

Disease | AllUniProt

Conditions RC3H1 is implicated in, by any mechanism.

• Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) MIM:618998

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 134 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hemophagocytic lymphohistiocytosis, familial, 6

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)

0.29

gnomAD pLI

0.99

gnomAD missense Z

2.79

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 3'-UTR-mediated mRNA destabilization
• B cell homeostasis
• cellular response to interleukin-1
• lymph node development
• negative regulation of activated T cell proliferation
• negative regulation of B cell proliferation
• negative regulation of germinal center formation
• negative regulation of T-helper 17 cell differentiation
• nuclear-transcribed mRNA catabolic process
• nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
• nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
• P-body assembly
• positive regulation of non-canonical NF-kappaB signal transduction
• post-transcriptional regulation of gene expression
• protein polyubiquitination
• regulation of germinal center formation
• regulation of miRNA metabolic process
• regulation of mRNA stability
• regulation of T cell receptor signaling pathway
• spleen development
• T cell homeostasis
• T cell proliferation
• T cell receptor signaling pathway
• T follicular helper cell differentiation
• ubiquitin-dependent protein catabolic process
• negative regulation of T-helper cell differentiation
• regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay

Molecular functions

• CCR4-NOT complex binding
• double-stranded RNA binding
• miRNA binding
• mRNA 3'-UTR binding
• mRNA binding
• RNA binding
• RNA stem-loop binding
• ubiquitin protein ligase activity
• ubiquitin-protein transferase activity
• zinc ion binding

Cellular components

• cytoplasmic stress granule
• P-body

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, CCCH-type
• Zinc finger, RING-type
• Zinc finger, RING/FYVE/PHD-type
• Zinc finger, RING-type, conserved site
• Zinc finger, CCCH-type superfamily
• Roquin II
• Roquin 1/2-like, ROQ domain
• Roquin domain-containing protein
• zinc-RING finger domain
• Roquin II domain
• Roquin 1/2-like, ROQ domain

KeywordsUniProt

• Cytoplasm
• Metal-binding
• Phosphoprotein
• Repeat
• RNA-binding
• Transferase
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of RC3H1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DDX6
• EDC4
• AGO2