FANCI - FA complementation group I Gene

Also Known as KIAA1794

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55215

About FANCI

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,243,979-89,317,259 (from NCBI)

This gene has 27 transcripts (splice variants), 200 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 20.6), lymph node (RPKM 12.1) and 23 other tissues.

Summary

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

FANCI Products (4)

mRNA Protein Name
NM_001113378.2 NP_001106849.1 Fanconi anemia group I protein isoform 1
NM_001376910.1 NP_001363839.1 Fanconi anemia group I protein isoform 3
NM_001376911.1 NP_001363840.1 Fanconi anemia group I protein isoform 1
NM_018193.3 NP_060663.2 Fanconi anemia group I protein isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA polymerase binding IPI
IPI: Inferred from physical interaction
19995904 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17460694 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within positive regulation of protein ubiquitination IDA
IDA: Inferred from direct assay
18029348 GOA
Cellular Component GO Annotation Evidence References Source
part of DNA repair complex IPI
IPI: Inferred from physical interaction
32269332 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
18445686 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

FANCI Protein Structure

FANCI_S1-cap

FANCI_S1-cap: FANCI solenoid 1 cap (1 - 53)

FANCI_S1

FANCI_S1: FANCI solenoid 1 (62 - 281)

FANCI_HD1

FANCI_HD1: FANCI helical domain 1 (284 - 371)

FANCI_S2

FANCI_S2: FANCI solenoid 2 (377 - 541)

FANCI_HD2

FANCI_HD2: FANCI helical domain 2 (555 - 787)

FANCI_S3

FANCI_S3: FANCI solenoid 3 (804 - 1033)

FANCI_S4

FANCI_S4: FANCI solenoid 4 (1045 - 1298)

  • 0
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  • 1200
  • 1328 a.a.
Protein Preferred Names Protein Names

Fanconi anemia group I protein

  • Fanconi anemia complementation group I

FANCI Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FANCI Q9NVI1 FANCD2 Homo sapiens Q9BXW9
Anti Bait CoIP
17460694
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group I

  • Fanconi Anemia Complementation Group I

  • FANCI
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
Mitochondrial Dna Depletion Syndrome 4a

  • Alpers Syndrome

  • Alpers-Huttenlocher Syndrome

  • Alpers Progressive Infantile Poliodystrophy

  • Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

  • Alpers Disease

  • Progressive Sclerosing Poliodystrophy

  • Pndc

  • Diffuse Cerebral Sclerosis Of Schilder

  • MTDPS4A

  • Neuronal Degeneration Of Childhood With Liver Disease, Progressive

  • Alper'S Syndrome

  • Alpers' Disease Or Gray-Matter Degeneration

  • Diffuse Cerebral Degeneration In Infancy

  • Infantile Poliodystrophy

  • Poliodystrophia Cerebri Progressiva

  • Progressive Cerebral Poliodystrophy

  • Alpers' Disease

  • Alpers Progressive Sclerosing Poliodystrophy

  • Progressive Neuronal Degeneration Of Childhood With Liver Disease

  • Ahs

  • Mitochondrial Dna Depletion Syndrome 4a Alpers Type

  • Neuronal Degeneration Of Childhood With Liver Disease Progressive
Fanconi Anemia, Complementation Group G

  • Fanconi Anemia Complementation Group G

  • FANCG
Gastric Cancer

  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach
Fanconi Anemia, Complementation Group T

  • Fanconi Anemia Complementation Group T

  • FANCT
Fanconi Anemia, Complementation Group L

  • Fanconi Anemia Complementation Group L

  • FANCL
Fanconi Anemia, Complementation Group R

  • Fanconi Anemia Complementation Group R

  • FANCR
Fanconi Anemia, Complementation Group Q

  • Fanconi Anemia Complementation Group Q

  • FANCQ
Fanconi Anemia, Complementation Group D1

  • Fanconi Anemia Complementation Group D1

  • FANCD1

  • Fad1

  • Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations
Interstitial Nephritis, Karyomegalic

  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn
Fanconi Anemia, Complementation Group N

  • Fanconi Anemia Complementation Group N

  • FANCN
Colorectal Cancer

  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon
Aneurysm, Intracranial Berry, 12

  • ANIB12

  • Intracranial Berry Aneurysm 12
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
Physical Disorder

  • Physical Illness
Xeroderma Pigmentosum, Variant Type

  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum
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
Seckel Syndrome

  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism
Hereditary Breast Ovarian Cancer Syndrome

  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc
Deficiency Anemia

  • Anemia

  • Deficiency Anemias

  • Anaemia
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
Diamond-Blackfan Anemia

  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04739 FANCI Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21568 Fanci Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28086 Fanci Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus FANCI VGNC VGNC:62144
Bos taurus FANCI VGNC VGNC:28859
Mus musculus FANCI MGD MGI:2384790
Rattus norvegicus FANCI RGD RGD:2321863
Macaca mulatta FANCI VGNC VGNC:72575
Canis familiaris FANCI VGNC VGNC:40723
Others FANCI NCBI