2. Gene
  3. PIF1 - PIF1 5'-to-3' DNA helicase Gene

PIF1 - PIF1 5'-to-3' DNA helicase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PIF; C15orf20

Gene ID: 80119 | Gene type: protein coding

About PIF1

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:64,815,632-64,827,062 (from NCBI)

This gene has 9 transcripts (splice variants) and 197 orthologues. Broad expression in lymph node (RPKM 2.4), appendix (RPKM 1.6) and 19 other tissues.

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 elongation by inhibiting the actions of Telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]

PIF1 Products(4)

mRNA Protein Name
NM_001286496.2 NP_001273425.1 ATP-dependent DNA helicase PIF1 isoform a
NM_001286497.2 NP_001273426.1 ATP-dependent DNA helicase PIF1 isoform b
NM_001286499.2 NP_001273428.1 ATP-dependent DNA helicase PIF1 isoform c
NM_025049.4 NP_079325.2 ATP-dependent DNA helicase PIF1 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 5'-3' DNA helicase activity IDA
IDA: Inferred from direct assay
16522649 GOA
enables 5'-3' DNA/RNA helicase activity IDA
IDA: Inferred from direct assay
16522649 GOA
enables ATP binding IDA
IDA: Inferred from direct assay
16522649 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
16522649 GOA
enables single-stranded DNA helicase activity IDA
IDA: Inferred from direct assay
16522649 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
16522649 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of telomere maintenance via telomerase IDA
IDA: Inferred from direct assay
16522649 GOA
involved in protein-DNA-RNA complex disassembly IDA
IDA: Inferred from direct assay
16522649 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
16522649 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIF1 Protein Structure

PIF1

PIF1: PIF1-like helicase (206 - 504)

Herpes_Helicase

Herpes_Helicase: Helicase (551 - 600)

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  • 500
  • 600
  • 641 a.a.
Protein Preferred Names Protein Names

ATP-dependent DNA helicase PIF1

DNA repair and recombination helicase PIF1

Related Diseases

Diseases Alias
Dyskeratosis Congenita, Autosomal Recessive 5

Dyskeratosis Congenita, Autosomal Dominant, 4

DKCB5

Autosomal Dominant Dyskeratosis Congenita 4

DKCA4

Autosomal Recessive Dyskeratosis Congenita 5

Dyskeratosis Congenita, Autosomal Recessive, 5

Dyskeratosis Congenita, Autosomal Dominant 4

Dyskeratosis Congenita, Autosomal Recessive, Type 5
Noonan Syndrome 13

NS13
Fanconi Anemia, Complementation Group J

Fanconi Anemia Complementation Group J

FANCJ
Uterine Adnexa Cancer
Spinocerebellar Ataxia 36

Spinocerebellar Ataxia Type 36

SCA36

Asidan Ataxia

Costa De Morte Ataxia

Asidan

Ataxia, Spinocerebellar, Type 36
Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome

Infantile Onset Spinocerebellar Ataxia

Iosca

Infantile-Onset Spinocerebellar Ataxia

Spinocerebellar Ataxia 8

MTDPS7

Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

Sca8

Spinocerebellar Ataxia Infantile With Sensory Neuropathy

Spinocerebellar Ataxia, Infantile-Onset

Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

Spinocerebellar Ataxia 8, Formerly

Sca8, Formerly

Iosca, Mitochondrial Dna Depletion Syndrome 7

Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Mtdna Depletion Syndrome, Hepatocerebrorenal Form

Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

Pure Spinocerebellar Ataxia Japanese Type

Sca4 Pure Japanese Type

Spinocerebellar Ataxia Infantile-Onset

Mitochondrial Dna Depletion Syndrome , Type 7
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10485 PIF1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PIF1 VGNC VGNC:44530
Macaca mulatta PIF1 VGNC VGNC:75871
Rattus norvegicus PIF1 RGD RGD:1586053
Mus musculus PIF1 MGD MGI:2143057
Felis catus PIF1 VGNC VGNC:64163
Bos taurus PIF1 VGNC VGNC:32866
Others PIF1 NCBI