RNPC3

Protein identityUniProt · HPA

UniProt accession

Q96LT9

Gene

RNPC3

Ensembl

ENSG00000185946

Chromosome

1

Canonical length

517 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

517 residues, UniProt reviewed canonical sequence.

>Q96LT9|RNPC3
     1  MAAPEQPLAI SRGCTSSSSL SPPRGDRTLL VRHLPAELTA EEKEDLLKYF GAQSVRVLSD
    61  KGRLKHTAFA TFPNEKAAIK ALTRLHQLKL LGHTLVVEFA KEQDRVHSPC PTSGSEKKKR
   121  SDDPVEDDKE KKELGYLTVE NGIAPNHGLT FPLNSCLKYM YPPPSSTILA NIVNALASVP
   181  KFYVQVLHLM NKMNLPTPFG PITARPPMYE DYMPLHAPLP PTSPQPPEEP PLPDEDEELS
   241  SEESEYESTD DEDRQRMNKL MELANLQPKR PKTIKQRHVR KKRKIKDMLN TPLCPSHSSL
   301  HPVLLPSDVF DQPQPVGNKR IEFHISTDMP AAFKKDLEKE QNCEEKNHDL PATEVDASNI
   361  GFGKIFPKPN LDITEEIKED SDEMPSECIS RRELEKGRIS REEMETLSVF RSYEPGEPNC
   421  RIYVKNLAKH VQEKDLKYIF GRYVDFSSET QRIMFDIRLM KEGRMKGQAF IGLPNEKAAA
   481  KALKEANGYV LFGKPMVVQF ARSARPKQDP KEGKRKC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNPC3 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

59 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNPC3.

Disease | AllUniProt

Conditions RNPC3 is implicated in, by any mechanism.

• Pituitary hormone deficiency, combined or isolated, 7 (CPHD7) MIM:618160

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 102 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Isolated growth hormone deficiency, type 5
• Decreased response to growth hormone stimulation test

Disease | AutoantibodyPubMed

Conditions in which antibodies against RNPC3 are reported. Each links to that disease's full target list.

• Scleroderma, Systemic 3

ReferencesPubMed · IEDB

Publications for RNPC3 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.74

gnomAD pLI

0

gnomAD missense Z

0.99

DepMap mean gene effect

-1.61

DepMap dependency class

pan

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

• mRNA splicing, via spliceosome
• RNA splicing

Molecular functions

• pre-mRNA intronic binding
• U12 snRNA binding

Cellular components

• nucleoplasm
• nucleus
• U12-type spliceosomal complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• RNA-binding region-containing protein RBM41/RNPC3
• RNA recognition motif
• RBM40, RNA recognition motif 1

KeywordsUniProt

• Dwarfism
• mRNA processing
• mRNA splicing
• Nucleus
• Phosphoprotein
• Repeat
• RNA-binding
• Spliceosome

InteractionsUniProt · HPA

Protein binding partners of RNPC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PDCD7
• SNRPB
• SNRPF