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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10940
Gene name	POP1 ribonuclease P/MRP subunit
Gene symbol	POP1
Synonyms (NCBI Gene)	ANXD2
Chromosome	8
Chromosome location	8q22.2
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 n

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374828868	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs769183311	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1060505023	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060505024	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060505025	G>T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025418	hsa-miR-34a-5p	Proteomics	21566225
MIRT032295	hsa-let-7b-5p	Proteomics	18668040
MIRT044722	hsa-miR-320a	CLASH	23622248
MIRT512691	hsa-miR-4457	PAR-CLIP	23446348
MIRT512690	hsa-miR-125b-2-3p	PAR-CLIP	23446348
MIRT512689	hsa-miR-513b-5p	PAR-CLIP	23446348
MIRT512691	hsa-miR-4457	PAR-CLIP	23446348
MIRT512690	hsa-miR-125b-2-3p	PAR-CLIP	23446348
MIRT512689	hsa-miR-513b-5p	PAR-CLIP	23446348
MIRT1250150	hsa-miR-101	CLIP-seq
MIRT1250151	hsa-miR-128	CLIP-seq
MIRT1250152	hsa-miR-129-3p	CLIP-seq
MIRT1250153	hsa-miR-1324	CLIP-seq
MIRT1250154	hsa-miR-23a	CLIP-seq
MIRT1250155	hsa-miR-23b	CLIP-seq
MIRT1250156	hsa-miR-23c	CLIP-seq
MIRT1250157	hsa-miR-27a	CLIP-seq
MIRT1250158	hsa-miR-27b	CLIP-seq
MIRT1250159	hsa-miR-298	CLIP-seq
MIRT1250160	hsa-miR-3166	CLIP-seq
MIRT1250161	hsa-miR-3180-5p	CLIP-seq
MIRT1250162	hsa-miR-330-3p	CLIP-seq
MIRT1250163	hsa-miR-3622b-5p	CLIP-seq
MIRT1250164	hsa-miR-3668	CLIP-seq
MIRT1250165	hsa-miR-3684	CLIP-seq
MIRT1250166	hsa-miR-3688-3p	CLIP-seq
MIRT1250167	hsa-miR-375	CLIP-seq
MIRT1250168	hsa-miR-4270	CLIP-seq
MIRT1250169	hsa-miR-4304	CLIP-seq
MIRT1250170	hsa-miR-4422	CLIP-seq
MIRT1250171	hsa-miR-4441	CLIP-seq
MIRT1250172	hsa-miR-4685-5p	CLIP-seq
MIRT1250173	hsa-miR-4711-5p	CLIP-seq
MIRT1250174	hsa-miR-4717-3p	CLIP-seq
MIRT1250175	hsa-miR-515-5p	CLIP-seq
MIRT2073853	hsa-let-7a	CLIP-seq
MIRT2073854	hsa-let-7b	CLIP-seq
MIRT2073855	hsa-let-7c	CLIP-seq
MIRT2073856	hsa-let-7d	CLIP-seq
MIRT2073857	hsa-let-7e	CLIP-seq
MIRT2073858	hsa-let-7f	CLIP-seq
MIRT2073859	hsa-let-7g	CLIP-seq
MIRT2073860	hsa-let-7i	CLIP-seq
MIRT2073861	hsa-miR-2467-3p	CLIP-seq
MIRT2073862	hsa-miR-3678-3p	CLIP-seq
MIRT2073863	hsa-miR-4257	CLIP-seq
MIRT2073864	hsa-miR-4458	CLIP-seq
MIRT2073865	hsa-miR-4500	CLIP-seq
MIRT2073866	hsa-miR-4672	CLIP-seq
MIRT2073867	hsa-miR-98	CLIP-seq
MIRT1250164	hsa-miR-3668	CLIP-seq
MIRT1250174	hsa-miR-4717-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000172	Component	Ribonuclease MRP complex	IBA
GO:0000172	Component	Ribonuclease MRP complex	IDA	8918471, 16723659
GO:0000172	Component	Ribonuclease MRP complex	IEA
GO:0001682	Process	TRNA 5'-leader removal	IDA	16723659, 30454648
GO:0001682	Process	TRNA 5'-leader removal	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0004526	Function	Ribonuclease P activity	IDA	8918471, 30454648
GO:0004526	Function	Ribonuclease P activity	IEA
GO:0005515	Function	Protein binding	IPI	15096576, 28514442, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005655	Component	Nucleolar ribonuclease P complex	IBA
GO:0005655	Component	Nucleolar ribonuclease P complex	IDA	8918471
GO:0005655	Component	Nucleolar ribonuclease P complex	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0008033	Process	TRNA processing	IBA
GO:0008033	Process	TRNA processing	IEA
GO:0016078	Process	TRNA decay	IDA	8918471
GO:0030681	Component	Multimeric ribonuclease P complex	IDA	16723659, 30454648
GO:0033204	Function	Ribonuclease P RNA binding	IDA	16723659, 30454648

MIM	HGNC	e!Ensembl
602486	30129	ENSG00000104356

Q99575

Protein name

Ribonucleases P/MRP protein subunit POP1 (hPOP1)

Protein function

Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:30454648, PubMed:8918471). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed

PDB

6AHR , 6AHU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06978	POP1	107 → 190	Ribonucleases P/MRP protein subunit POP1	Family
PF06978	POP1	168 → 258	Ribonucleases P/MRP protein subunit POP1	Family
PF08170	POPLD	617 → 708	POPLD (NUC188) domain	Domain

Sequence

MSNAKERKHAKKMRNQPTNVTLSSGFVADRGVKHHSGGEKPFQAQKQEPHPGTSRQRQTR
VNPHSLPDPEVNEQSSSKGMFRKKGGWKAGPEGTSQEIPKYITASTFAQARAAEISAMLK
AVTQKSSNSLVFQTLPRHMRRRAMSHNVKRLPRRLQEIAQKEAEKAVHQKKEHSKNKCHK
ARRCHMNRTLEFNRRQKKNIWLETHIWHAKRFHMVKKWGYCLGERPTVKSHRACYRAMTN
RCLLQDLSYYCCLELKGKEEEILKALSGMCNIDTGLTFAAVHCLSGKRQGSLVLYRVNKY
PREMLGPVTFIWKSQRTPGDPSESRQLWIWLHPTLKQDILEEIKAACQCVEPIKSAVCIA
DPLPTPSQEKSQTELPDEKIGKKRKRKDDGENAKPIKKIIGDGTRDPCLPYSWISPTTGI
IISDLTMEMNRFRLIGPLSHSILTEAIKAASVHTVGEDTEETPHRWWIETCKKPDSVSLH
CRQEAIFELLGGITSPAEIPAGTILGLTVGDPRINLPQKKSKALPNPEKCQDNEKVRQLL
LEGVPVECTHSFIWNQDICKSVTENKISDQDLNRMRSELLVPGSQLILGPHESKIPILLI
QQPGKVTGEDRLGWGSGWDVLLPKGWGMAFWIPFIYRGVRVGGLKESAVHSQYKRSPNVP
GDFPDCPAGMLFAEEQAKNLLEKYKRRPPAKRPNYVKLGTLAPFCCPWEQLTQDWESRVQ
AYEEPSVASSPNGKESDLRRSEVPCAPMPKKTHQPSDEVGTSIEHPREAEEVMDAGCQES
AGPERITDQEASENHVAATGSHLCVLRSRKLLKQLSAWCGPSSEDSRGGRRAPGRGQQGL
TREACLSILGHFPRALVWVSLSLLSKGSPEPHTMICVPAKEDFLQLHEDWHYCGPQESKH
SDPFRSKILKQKEKKKREKRQKPGRASSDGPAGEEPVAGQEALTLGLWSGPLPRVTLHCS
RTLLGFVTQGDFSMAVGCGEALGFVSLTGLLDMLSSQPAAQRGLVLLRPPASLQYRFARI
AIEV

Sequence length

1024

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		tRNA processing in the nucleus

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anauxetic dysplasia 2	Likely pathogenic; Pathogenic	rs2130635894, rs1816281097, rs769183311, rs1060505023, rs1060505024, rs1060505025	RCV001806407 RCV003991791 RCV000445637 RCV000477695 RCV000477720 RCV000477675
POP1-related disorder	Likely pathogenic; Pathogenic	rs771454414	RCV003418872

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs202137405, rs200026675	RCV005925491 RCV005925655
Malignant tumor of esophagus	Benign	rs78782053	RCV005926176
Ovarian serous cystadenocarcinoma	Uncertain significance	rs200026675	RCV005925656

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anauxetic dysplasia	Associate	21455487, 28067412
Breast Neoplasms	Associate	36084948
Cartilage hair hypoplasia	Associate	28067412
Colorectal Neoplasms	Associate	32828126
Growth Disorders	Associate	28067412
HEM dysplasia	Associate	21455487, 28067412
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28067412
Prostatic Neoplasms	Associate	19893039
Scleroderma Systemic	Associate	12176814

POP1 (POP1 ribonuclease P/MRP subunit)