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

Also Known as PIF; C15orf20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80119

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 References 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 References 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 References 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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-175012 PIF1-IN-1 Inhibitor / Unkown
HY-RS10485 PIF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18782 Pif1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25271 Pif1 Rat Pre-designed siRNA Set A Pre-designed Set / 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