1. Gene
  2. POP4 - POP4 homolog, ribonuclease P/MRP subunit Gene

POP4 - POP4 homolog, ribonuclease P/MRP subunit Gene

Homo sapiens

Also known as RPP29

Gene ID: 10775 | Gene type: protein coding

About POP4

Cytogenetic location: 19q12 Genomic coordinates (GRCh38): 19:29,606,283-29,617,237 (from NCBI)

This gene has 13 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in testis (RPKM 7.0), lymph node (RPKM 6.7) and 25 other tissues.

Summary

This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

POP4 Products(1)

mRNA Protein Name
NM_006627.3 NP_006618.1 ribonuclease P protein subunit p29

POP4 Protein Structure

UPF0086

UPF0086: Domain of unknown function UPF0086 (126 - 211)

  • 0
  • 100
  • 200
  • 220 a.a.
Protein Preferred Names Protein Names

ribonuclease P protein subunit p29

hPOP4

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia 2

DBA2

Anemia, Diamond-Blackfan, 2

Anemia Diamond-Blackfan 2

Intracystic Papillary Adenoma

Intracystic Papilloma

Anauxetic Dysplasia 2

ANXD2

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

Periampullary Adenocarcinoma
Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency

Familial Pyrimidinemia

Hereditary Thymine-Uraciluria

Dihydropyrimidinuria

Dpyd Deficiency

Thymine-Uraciluria, Hereditary

Pyrimidinemia, Familial

5-Fluorouracil Toxicity

Dihydrouracil Dehydrogenase Deficiency

Familial Pyrimidinaemia

Thymine-Uracilurea

Familial Pyrimidemia

Pyrimidinemia Familial

DPYDD

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
Felis catus POP4 VGNC VGNC:64298
Rattus norvegicus POP4 RGD RGD:1305955
Mus musculus POP4 MGD MGI:1913411
Bos taurus POP4 VGNC VGNC:33164
Canis familiaris POP4 VGNC VGNC:44816
Macaca mulatta POP4 VGNC VGNC:76140