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  2. RPP14 - ribonuclease P/MRP subunit p14 Gene

RPP14 - ribonuclease P/MRP subunit p14 Gene

Homo sapiens

Also known as P14

Gene ID: 11102 | Gene type: protein coding

About RPP14

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,306,245-58,320,193 (from NCBI)

This gene has 6 transcripts (splice variants) and 183 orthologues. Ubiquitous expression in thyroid (RPKM 4.8), kidney (RPKM 4.8) and 25 other tissues.

Summary

This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]

RPP14 Products(2)

mRNA Protein Name
NM_001098783.3 NP_001092253.1 ribonuclease P protein subunit p14
NM_007042.6 NP_008973.1 ribonuclease P protein subunit p14
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15096576 GOA
enables ribonuclease P RNA binding IDA
IDA: Inferred from direct assay
16723659 GOA
contributes to ribonuclease P activity IDA
IDA: Inferred from direct assay
30454648 GOA
Biological Process GO Annotation Evidence Reference Source
involved in tRNA 5'-leader removal IDA
IDA: Inferred from direct assay
16723659 GOA
Cellular Component GO Annotation Evidence Reference Source
part of multimeric ribonuclease P complex IDA
IDA: Inferred from direct assay
16723659 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
10444065 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPP14 Protein Structure

RNase_P_Rpp14

RNase_P_Rpp14: Rpp14/Pop5 family (23 - 109)

  • 0
  • 100
  • 124 a.a.
Protein Preferred Names Protein Names

ribonuclease P protein subunit p14

ribonuclease P/MRP 14kDa subunit

Related Diseases

Diseases Alias
Anauxetic Dysplasia 1

Anauxetic Dysplasia

Spondylometaepiphyseal Dysplasia, Menger Type

Spondylometaepiphyseal Dysplasia, Anauxetic Type

Spondyloepimetaphyseal Dysplasia, Anauxetic Type

ANXD1

Anxd

Spondylometaepiphyseal Dysplasia Anauxetic Type

Spondylometaepiphyseal Dysplasia Menger Type

Ad

Spondyloepimetaphyseal Dysplasia, Menger Type

Dysplasia, Anauxetic, Type 1

Chromosome 16p11.2 Deletion Syndrome

Distal 16p11.2 Microdeletion Syndrome

16p11.2 Deletion Syndrome

Del(16)(P11.2)

Microdeletion 16p11.2

Monosomy 16p11.2

Autism, Susceptibility To, 14a

Auts14a

Distal Del(16)(P11.2)

Distal Monosomy 16p11.2

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus RPP14 RGD RGD:1305436
Canis familiaris RPP14 VGNC VGNC:108255
Mus musculus RPP14 MGD MGI:1914303
Bos taurus RPP14 VGNC VGNC:109387