Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79897
Gene name	Ribonuclease P subunit p21
Gene symbol	RPP21
Synonyms (NCBI Gene)	C6orf135CAT60
Chromosome	6
Chromosome location	6p22.1
Summary	RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001682	Process	TRNA 5'-leader removal	IDA	16723659, 30454648
GO:0003723	Function	RNA binding	IEA
GO:0004526	Function	Ribonuclease P activity	IDA	30454648
GO:0004526	Function	Ribonuclease P activity	IEA
GO:0005515	Function	Protein binding	IPI	15096576, 30454648, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005655	Component	Nucleolar ribonuclease P complex	IBA
GO:0005730	Component	Nucleolus	IEA
GO:0006396	Process	RNA processing	IEA
GO:0008033	Process	TRNA processing	IBA
GO:0008033	Process	TRNA processing	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEP	18291362
GO:0030681	Component	Multimeric ribonuclease P complex	IDA	16723659, 30454648
GO:0033204	Function	Ribonuclease P RNA binding	IDA	16723659, 30454648
GO:0046872	Function	Metal ion binding	IEA
GO:1902555	Component	Endoribonuclease complex	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
612524	21300	ENSG00000241370

Q9H633

Protein name

Ribonuclease P protein subunit p21 (RNaseP protein p21) (Ribonuclease P/MRP 21 kDa subunit) (Ribonucleoprotein V)

Protein function

Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends.

PDB

6AHR , 6AHU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04032	Rpr2	13 → 96	RNAse P Rpr2/Rpp21/SNM1 subunit domain	Family

Sequence

MAGPVKDREAFQRLNFLYQAAHCVLAQDPENQALARFYCYTERTIAKRLVLRRDPSVKRT
LCRGCSSLLVPGLTCTQRQRRCRGQRWTVQTCLTCQRSQRFLNDPGHLLWGDRPEAQLGS
QADSKPLQPLPNTAHSISDRLPEEKMQTQGSSNQ

Sequence length

154

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus Major pathway of rRNA processing in the nucleolus and cytosol

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Barrett Esophagus	Barrett esophagus	BEFREE	25827949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35833210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	25827949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	GWASCAT_DG	25827949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★★★★ ★☆☆☆☆ Found in Text Mining only

RPP21 (ribonuclease P subunit p21)