You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

FANCA (NM_001018112) - FA complementation group A

Fanconi Anemia Group A Protein Isoform B

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of FANCA protein. View all 3 isoforms
FANCA: Fanconi anemia group A protein isoform b
Description:

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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008].

Strand
-
Chromosome
16
Protein
297 residues
All mutations
148
PTM sites
7
CDS
89,865,486 - 89,883,023
Transcription
89,864,766 - 89,883,065
15.15% of sequence is predicted to be disordered

Usage summary

Network

drag the background to move whole network
scroll to zoom in and out

PTM site

double click to focus on site's sub-network (or hide it)

Kinases group

double click to show/hide all kinases within the group.

Kinase, PTM site or protein

hover to see a tooltip with additional information
click to stick the tooltip
drag a node to move it and stick in a chosen place
shift + click to free a node which was stuck earlier

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2175
UniProt
Ensembl