FANCI

GENERAL INFORMATION

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Gene name

FANCI

Gene description

Fanconi anemia, complementation group I

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein localization

Normal cells generally showed moderate nuclear positivity which often was combined with cytoplasmic and/or membranous staining. Adrenal cortex, placental trophoblasts, testis and bone marrow poietic cells were strongly stained. Heart and smooth muscle were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA039972
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression



GENE INFORMATION

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Gene name

FANCI (HGNC Symbol)

Synonyms

FLJ10719, KIAA1794

Description

Fanconi anemia, complementation group I (HGNC Symbol)

Entrez gene 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]

Chromosome

15

Cytoband

q26.1

Chromosome location (bp)

89243949 - 89317261

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000140525 (version 78.38)

Entrez gene

55215

UniProt

Q9NVI1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NVI1

Antibodypedia

FANCI antibodies


PROTEIN BROWSER

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ENST00000300027
 
ENST00000310775
 
ENST00000561894
 
ENST00000563250
 
ENST00000564920
 
ENST00000565255
 
ENST00000567891
 
ENST00000567996
 
ENST00000570225
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FANCI-001 ENSP00000300027
ENST00000300027
Q9NVI1
Show all »
Show » Show » 1268 142.6 No 0
FANCI-002 ENSP00000310842
ENST00000310775
Q9NVI1
Show all »
Show » Show » 1328 149.3 No 0
FANCI-003 ENSP00000458024
ENST00000567996
Q9NVI1
Show all »
Show » Show » 252 27.8 No 0
FANCI-005 ENSP00000455189
ENST00000561894
Show » 1090 122.8 No 0
FANCI-007 ENSP00000455735
ENST00000567891
H3BQE2
Show all »
Show » Show » 157 17 No 0
FANCI-008 ENSP00000454371
ENST00000565255
H3BMG4
Show all »
Show » Show » 226 25 No 0
FANCI-009 ENSP00000456552
ENST00000564920
H3BS60
Show all »
Show » Show » 126 13.7 No 0
FANCI-012 ENSP00000457029
ENST00000563250
H3BT54
Show all »
Show » Show » 215 23.8 No 0
FANCI-017 ENSP00000454669
ENST00000570225
H3BN35
Show all »
Show » Show » 145 16.4 No 0