Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	80119
Gene name	PIF1 5'-to-3' DNA helicase
Gene symbol	PIF1
Synonyms (NCBI Gene)	C15orf20PIF
Chromosome	15
Chromosome location	15q22.31
Summary	This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5` to 3` DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024811	hsa-miR-215-5p	Microarray	19074876
MIRT026839	hsa-miR-192-5p	Microarray	19074876
MIRT1233060	hsa-miR-1285	CLIP-seq
MIRT1233061	hsa-miR-1587	CLIP-seq
MIRT1233062	hsa-miR-2861	CLIP-seq
MIRT1233063	hsa-miR-3187-5p	CLIP-seq
MIRT1233064	hsa-miR-378g	CLIP-seq
MIRT1233065	hsa-miR-3929	CLIP-seq
MIRT1233066	hsa-miR-4419b	CLIP-seq
MIRT1233067	hsa-miR-4478	CLIP-seq
MIRT1233068	hsa-miR-4486	CLIP-seq
MIRT1233069	hsa-miR-4492	CLIP-seq
MIRT1233070	hsa-miR-4498	CLIP-seq
MIRT1233071	hsa-miR-4505	CLIP-seq
MIRT1233072	hsa-miR-4656	CLIP-seq
MIRT1233073	hsa-miR-4675	CLIP-seq
MIRT1233074	hsa-miR-4741	CLIP-seq
MIRT1233075	hsa-miR-612	CLIP-seq
MIRT1233076	hsa-miR-645	CLIP-seq
MIRT1233077	hsa-miR-762	CLIP-seq
MIRT2068596	hsa-miR-1184	CLIP-seq
MIRT2068597	hsa-miR-1205	CLIP-seq
MIRT2068598	hsa-miR-3115	CLIP-seq
MIRT2068599	hsa-miR-3158-5p	CLIP-seq
MIRT2068600	hsa-miR-331-3p	CLIP-seq
MIRT2068601	hsa-miR-4287	CLIP-seq
MIRT2068602	hsa-miR-4469	CLIP-seq
MIRT2068603	hsa-miR-4685-3p	CLIP-seq
MIRT2068604	hsa-miR-646	CLIP-seq
MIRT2456464	hsa-miR-3152-5p	CLIP-seq
MIRT2456465	hsa-miR-3663-3p	CLIP-seq
MIRT2068601	hsa-miR-4287	CLIP-seq
MIRT2456466	hsa-miR-4317	CLIP-seq
MIRT2456467	hsa-miR-4421	CLIP-seq
MIRT2068602	hsa-miR-4469	CLIP-seq
MIRT2068603	hsa-miR-4685-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	16522649
GO:0000723	Process	Telomere maintenance	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	16522649
GO:0001117	Process	Protein-DNA-RNA complex disassembly	IDA	16522649
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IDA	16522649
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	23275553
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007004	Process	Telomere maintenance via telomerase	TAS
GO:0010521	Function	Telomerase inhibitor activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IDA	16522649
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IDA	16522649, 23657261
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IEA
GO:0033678	Function	5'-3' DNA/RNA helicase activity	IDA	16522649
GO:0033678	Function	5'-3' DNA/RNA helicase activity	TAS
GO:0042162	Function	Telomeric DNA binding	IDA	16522649
GO:0042645	Component	Mitochondrial nucleoid	IDA	23275553
GO:0043139	Function	5'-3' DNA helicase activity	IBA
GO:0043139	Function	5'-3' DNA helicase activity	IDA	16522649
GO:0043139	Function	5'-3' DNA helicase activity	IEA
GO:0051880	Function	G-quadruplex DNA binding	IEA

MIM	HGNC	e!Ensembl
610953	26220	ENSG00000140451

Q9H611

Protein name

ATP-dependent DNA helicase PIF1 (EC 5.6.2.3) (DNA 5'-3' helicase PIF1) (DNA repair and recombination helicase PIF1) (PIF1/RRM3 DNA helicase-like protein)

Protein function

DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing repl

PDB

5FHH , 6HPH , 6HPQ , 6HPT , 6HPU , 9FB8 , 9FI9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02689	Herpes_Helicase	537 → 607	Helicase	Family
PF05970	PIF1	206 → 504	PIF1-like helicase	Family

Tissue specificity

TISSUE SPECIFICITY: Weak ubiquitous expression.

Sequence

MLSGIEAAAGEYEDSELRCRVAVEELSPGGQPRRRQALRTAELSLGRNERRELMLRLQAP
GPAGRPRCFPLRAARLFTRFAEAGRSTLRLPAHDTPGAGAVQLLLSDCPPDRLRRFLRTL
RLKLAAAPGPGPASARAQLLGPRPRDFVTISPVQPEERRLRAATRVPDTTLVKRPVEPQA
GAEPSTEAPRWPLPVKRLSLPSTKPQLSEEQAAVLRAVLKGQSIFFTGSAGTGKSYLLKR
ILGSLPPTGTVATASTGVAACHIGGTTLHAFAGIGSGQAPLAQCVALAQRPGVRQGWLNC
QRLVIDEISMVEADLFDKLEAVARAVRQQNKPFGGIQLIICGDFLQLPPVTKGSQPPRFC
FQSKSWKRCVPVTLELTKVWRQADQTFISLLQAVRLGRCSDEVTRQLQATASHKVGRDGI
VATRLCTHQDDVALTNERRLQELPGKVHRFEAMDSNPELASTLDAQCPVSQLLQLKLGAQ
VMLVKNLSVSRGLVNGARGVVVGFEAEGRGLPQVRFLCGVTEVIHADRWTVQATGGQLLS
RQQLPLQLAWAMSIHKSQGMTLDCVEISLGRVFASGQAYVALSRARSLQGLRVLDFDPMA
VRCDPRVLHFYATLRRGRSLSLESPDDDEAASDQENMDPIL

Sequence length

641

Interactions

View interactions

Reactome Pathway
Telomere Extension By Telomerase

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (6)
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent spontaneous abortion	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (24)
Alzheimer Disease	Alzheimer disease	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	28054200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22347400, 30053106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22347400, 33470420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	21643625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	17785548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17785548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	29191562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	28780162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31136580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	37396201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37396201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37396201	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35190532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22347400, 30053106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17626247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25359767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	28780162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28793334	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36672180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17626247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37396201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31136580		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with PIF1 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for PIF1.

Diseases Linked via Similar Genes Diseases curated for genes most similar to PIF1 (see Related Genes above), that are NOT already directly curated for PIF1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to PIF1.

PIF1 (PIF1 5'-to-3' DNA helicase)

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