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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10940
Gene name Gene Name - the full gene name approved by the HGNC.	POP1 ribonuclease P/MRP subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POP1
Synonyms (NCBI Gene) Gene synonyms aliases	ANXD2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ANXD2
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.2
Summary Summary of gene provided in NCBI Entrez 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 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(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000172	Component	Ribonuclease MRP complex	IBA	21873635
GO:0000172	Component	Ribonuclease MRP complex	IDA	8918471, 16723659
GO:0001682	Process	TRNA 5'-leader removal	IDA	16723659, 30454648
GO:0001682	Process	TRNA 5'-leader removal	TAS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004526	Function	Ribonuclease P activity	IDA	8918471, 16723659, 30454648
GO:0005515	Function	Protein binding	IPI	15096576, 28514442
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005654	Component	Nucleoplasm	TAS
GO:0005655	Component	Nucleolar ribonuclease P complex	IBA	21873635
GO:0005655	Component	Nucleolar ribonuclease P complex	IDA	8918471
GO:0005730	Component	Nucleolus	IDA
GO:0008033	Process	TRNA processing	IBA	21873635
GO:0016078	Process	TRNA catabolic process	IDA	8918471
GO:0030681	Component	Multimeric ribonuclease P complex	IDA	16723659, 30454648
GO:0033204	Function	Ribonuclease P RNA binding	IDA	30454648
GO:0090502	Process	RNA phosphodiester bond hydrolysis, endonucleolytic	IBA	21873635

MIM	HGNC	e!Ensembl
602486	30129	ENSG00000104356

Protein

UniProt ID

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 (4)

Disease term	Disease name	dbSNP ID	References
Causal
Anauxetic dysplasia	Anauxetic dysplasia, ANAUXETIC DYSPLASIA 2	rs199476103, rs727502774, rs1554651507, rs727502776, rs727502778, rs1554651469, rs878853178, rs796065036, rs1823615821, rs902313238, rs786204684, rs1554651506, rs753874439, rs769183311, rs1060505023 View all (65 more)	21455487, 27380734, 28067412
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Pyle metaphyseal dysplasia	Pyle metaphyseal dysplasia	rs879255603, rs755007671, rs879253778

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Anauxetic Dysplasia	anauxetic dysplasia	GenCC
Hypertension	Hypertension	GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
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)