POP1

Protein identityUniProt · HPA

UniProt accession

Q99575

Gene

POP1

Ensembl

ENSG00000104356

Chromosome

8

Canonical length

1024 aa

Protein class

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

Subcellular location

Nucleoli

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1024 residues, UniProt reviewed canonical sequence.

>Q99575|POP1
     1  MSNAKERKHA KKMRNQPTNV TLSSGFVADR GVKHHSGGEK PFQAQKQEPH PGTSRQRQTR
    61  VNPHSLPDPE VNEQSSSKGM FRKKGGWKAG PEGTSQEIPK YITASTFAQA RAAEISAMLK
   121  AVTQKSSNSL VFQTLPRHMR RRAMSHNVKR LPRRLQEIAQ KEAEKAVHQK KEHSKNKCHK
   181  ARRCHMNRTL EFNRRQKKNI WLETHIWHAK RFHMVKKWGY CLGERPTVKS HRACYRAMTN
   241  RCLLQDLSYY CCLELKGKEE EILKALSGMC NIDTGLTFAA VHCLSGKRQG SLVLYRVNKY
   301  PREMLGPVTF IWKSQRTPGD PSESRQLWIW LHPTLKQDIL EEIKAACQCV EPIKSAVCIA
   361  DPLPTPSQEK SQTELPDEKI GKKRKRKDDG ENAKPIKKII GDGTRDPCLP YSWISPTTGI
   421  IISDLTMEMN RFRLIGPLSH SILTEAIKAA SVHTVGEDTE ETPHRWWIET CKKPDSVSLH
   481  CRQEAIFELL GGITSPAEIP AGTILGLTVG DPRINLPQKK SKALPNPEKC QDNEKVRQLL
   541  LEGVPVECTH SFIWNQDICK SVTENKISDQ DLNRMRSELL VPGSQLILGP HESKIPILLI
   601  QQPGKVTGED RLGWGSGWDV LLPKGWGMAF WIPFIYRGVR VGGLKESAVH SQYKRSPNVP
   661  GDFPDCPAGM LFAEEQAKNL LEKYKRRPPA KRPNYVKLGT LAPFCCPWEQ LTQDWESRVQ
   721  AYEEPSVASS PNGKESDLRR SEVPCAPMPK KTHQPSDEVG TSIEHPREAE EVMDAGCQES
   781  AGPERITDQE ASENHVAATG SHLCVLRSRK LLKQLSAWCG PSSEDSRGGR RAPGRGQQGL
   841  TREACLSILG HFPRALVWVS LSLLSKGSPE PHTMICVPAK EDFLQLHEDW HYCGPQESKH
   901  SDPFRSKILK QKEKKKREKR QKPGRASSDG PAGEEPVAGQ EALTLGLWSG PLPRVTLHCS
   961  RTLLGFVTQG DFSMAVGCGE ALGFVSLTGL LDMLSSQPAA QRGLVLLRPP ASLQYRFARI
  1021  AIEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POP1 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)

0.38

Highest tissue expression

4.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POP1.

Disease | AllUniProt

Conditions POP1 is implicated in, by any mechanism.

• Anauxetic dysplasia 2 (ANXD2) MIM:617396

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 504 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Anauxetic dysplasia 2
• Inborn genetic diseases
• POP1-related disorder

ReferencesPubMed · IEDB

Publications for POP1 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)

0.76

gnomAD pLI

0

gnomAD missense Z

1.12

DepMap mean gene effect

-1.26

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• tRNA 5'-leader removal
• tRNA decay
• tRNA processing

Molecular functions

• ribonuclease P RNA binding
• RNA binding

Cellular components

• extracellular space
• multimeric ribonuclease P complex
• nucleolar ribonuclease P complex
• nucleolus
• nucleoplasm
• ribonuclease MRP complex

Protein domainsUniProt · Pfam · InterPro

• Pop1, N-terminal
• POPLD domain
• Ribonucleases P/MRP protein subunit Pop1
• POP1, C-terminal domain
• Ribonucleases P/MRP protein subunit POP1, N-terminal
• POPLD (NUC188) domain
• POP1 C-terminal domain

KeywordsUniProt

• Dwarfism
• Nucleus
• Phosphoprotein
• RNA-binding
• tRNA processing

InteractionsUniProt · HPA

Protein binding partners of POP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DDX21
• LIN28A
• NPM1
• NPM3
• POP4
• POP7
• PSPC1
• RPL10
• RPL31
• RPP25
• RPP30
• RPS19