FAN1 - FANCD2 and FANCI associated nuclease 1 Gene

Also Known as KMIN; hFAN1; MTMR15; KIAA1018

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22909

About FAN1

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:30,903,852-30,943,108 (from NCBI)

This gene has 28 transcripts (splice variants), 1 gene allele, 200 orthologues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 6.7), brain (RPKM 6.7) and 25 other tissues.

Summary

This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap Endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]

FAN1 Products (4)

mRNA	Protein	Name
NM_001146094.2	NP_001139566.1	fanconi-associated nuclease 1 isoform b
NM_001146095.1	NP_001139567.1	fanconi-associated nuclease 1 isoform b
NM_001146096.2	NP_001139568.1	fanconi-associated nuclease 1 isoform b
NM_014967.5	NP_055782.3	fanconi-associated nuclease 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-3' exonuclease activity	IDA IDA: Inferred from direct assay	20603015	GOA
enables 5'-flap endonuclease activity	IDA IDA: Inferred from direct assay	20603015	GOA
enables flap-structured DNA binding	IDA IDA: Inferred from direct assay	25430771	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20603015	GOA
enables ubiquitin-modified protein reader activity	IDA IDA: Inferred from direct assay	20603015	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	20603073	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	20603015	GOA
involved in interstrand cross-link repair	IDA IDA: Inferred from direct assay	25430771	GOA
involved in nucleotide-excision repair	IDA IDA: Inferred from direct assay	20603015	GOA
involved in nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	20603016	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	20603015	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

FAN1 Protein Structure

VRR_NUC

0
200
400
600
800
1017 a.a.

Protein Preferred Names	Protein Names
fanconi-associated nuclease 1	FANCD2/FANCI-associated nuclease 1

Related Diseases

Diseases	Alias
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Interstitial Nephritis	Nephritis, Interstitial Renal Tubulo-Interstitial Disease Nephritis Interstitial Nephritis, Tubulointerstitial
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
Chromosome 15q13.3 Deletion Syndrome	Chromosome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Microdeletion 15q13.3 Syndrome Del(15)(Q13.3) Monosomy 15q13.3
Fanconi Anemia, Complementation Group U	Fanconi Anemia Complementation Group U FANCU
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Fanconi Anemia, Complementation Group D2	Fanconi Anemia Complementation Group D2 FANCD2 Fad2 Fa4 Fancd Fanconi Pancytopenia Type 4 Fanconi Anemia, Complementation Group D Fanconi Pancytopenia, Type 4 Facd Fanconi Anemia Complementation Group D
Machado-Joseph Disease	SCA3 MJD Spinocerebellar Ataxia 3 Azorean Disease Spinocerebellar Ataxia Type 3 Spinocerebellar Atrophy Azorean Neurologic Disease Spinopontine Atrophy Nigrospinodentatal Degeneration Spinocerebellar Atrophy Iii Spinocerebellar Atrophy Type 3 Azorean Ataxia Azorean Disease Of The Nervous System Machado Disease Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia Disease, Machado-Joseph Ataxia, Spinocerebellar
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
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-RS05119	FSCN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04731	FAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19004	Fscn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22166	Fan1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FAN1	RGD	RGD:1566323
Bos taurus	FAN1	VGNC	VGNC:28851
Canis familiaris	FAN1	VGNC	VGNC:40715
Macaca mulatta	FAN1	VGNC	VGNC:72595
Felis catus	FAN1	VGNC	VGNC:62138
Mus musculus	FAN1	MGD	MGI:3045266
Others	FAN1	NCBI