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POP1 POP1 homolog, ribonuclease P/MRP subunit [ Homo sapiens (human) ]

Gene ID: 10940, updated on 8-Jul-2021

Summary

Official Symbol
POP1provided by HGNC
Official Full Name
POP1 homolog, ribonuclease P/MRP subunitprovided by HGNC
Primary source
HGNC:HGNC:30129
See related
Ensembl:ENSG00000104356 MIM:602486
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANXD2
Summary
This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in testis (RPKM 2.0), appendix (RPKM 1.8) and 25 other tissues See more
Orthologs
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Genomic context

See POP1 in Genome Data Viewer
Location:
8q22.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (98117293..98159835)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99129521..99172063)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glutamate rich 5 Neighboring gene reactive intermediate imine deaminase A homolog Neighboring gene tRNA-undetermined (NNN) 2-1 Neighboring gene uncharacterized LOC105375660 Neighboring gene RNA, U6 small nuclear 914, pseudogene Neighboring gene NIPA like domain containing 2 Neighboring gene uncharacterized LOC105375659

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anauxetic dysplasia 2
MedGen: C4479357 OMIM: 617396 GeneReviews: Not available
Compare labs
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0061, MGC17365

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ribonuclease P RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ribonuclease P activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA phosphodiester bond hydrolysis, endonucleolytic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tRNA 5'-leader removal IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular space HDA PubMed 
part_of multimeric ribonuclease P complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of nucleolar ribonuclease P complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nucleolar ribonuclease P complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of ribonuclease MRP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of ribonuclease MRP complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ribonucleases P/MRP protein subunit POP1
Names
hPOP1
processing of precursor 1, ribonuclease P/MRP subunit
processing of precursors 1
NP_001139332.1
NP_001139333.1
NP_055844.2
XP_011515103.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052869.1 RefSeqGene

    Range
    5001..47543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145860.2NP_001139332.1  ribonucleases P/MRP protein subunit POP1

    See identical proteins and their annotated locations for NP_001139332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK291434, AP003439, BF511088, D31765, X99302
    Consensus CDS
    CCDS6277.1
    UniProtKB/Swiss-Prot
    Q99575
    Related
    ENSP00000385787.2, ENST00000401707.7
    Conserved Domains (2) summary
    pfam06978
    Location:107257
    POP1; Ribonucleases P/MRP protein subunit POP1
    pfam08170
    Location:618707
    POPLD; POPLD (NUC188) domain
  2. NM_001145861.2NP_001139333.1  ribonucleases P/MRP protein subunit POP1

    See identical proteins and their annotated locations for NP_001139333.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK291434, AP003439, BF511088, BP249298, BP280616, D31765
    Consensus CDS
    CCDS6277.1
    UniProtKB/Swiss-Prot
    Q99575
    Conserved Domains (2) summary
    pfam06978
    Location:107257
    POP1; Ribonucleases P/MRP protein subunit POP1
    pfam08170
    Location:618707
    POPLD; POPLD (NUC188) domain
  3. NM_015029.3NP_055844.2  ribonucleases P/MRP protein subunit POP1

    See identical proteins and their annotated locations for NP_055844.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AP003439, BC011529, BF511088, D31765
    Consensus CDS
    CCDS6277.1
    UniProtKB/Swiss-Prot
    Q99575
    UniProtKB/TrEMBL
    Q96F88
    Related
    ENSP00000339529.3, ENST00000349693.3
    Conserved Domains (2) summary
    pfam06978
    Location:107257
    POP1; Ribonucleases P/MRP protein subunit POP1
    pfam08170
    Location:618707
    POPLD; POPLD (NUC188) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    98117293..98159835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516801.2XP_011515103.1  ribonucleases P/MRP protein subunit POP1 isoform X1

    Conserved Domains (1) summary
    pfam06978
    Location:107257
    POP1; Ribonucleases P/MRP protein subunit POP1
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