• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


FANCA Fanconi anemia, complementation group A [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000135 Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001018112 Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001286167 Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005256294 PREDICTED: Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006721167 PREDICTED: Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006721168 PREDICTED: Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

Gene Symbol FANCA
Entrez Gene ID 2175
Full Name Fanconi anemia, complementation group A
Synonyms FA, FA-H, FA1, FAA, FACA, FAH, FANCH
General protein information
Preferred Names
Fanconi anemia group A protein
Names
Fanconi anemia group A protein
Fanconi anemia, type 1
Fanconi anemia, complementation group H
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q24.3

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 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].
Disorder

MIM: 607139

Fanconi anemia, complementation group A, 227650 (3)

mRNA Protein Product Sequence Price Select
NM_000135, 66880552 NP_000126, 66880553 Fanconi anemia group A protein isoform a ORF Sequence $1500.00
NM_001018112, 66879665 NP_001018122, 66879666 Fanconi anemia group A protein isoform b ORF Sequence $300.00
NM_001286167, 555290154 NP_001273096, 555290155 Fanconi anemia group A protein isoform c ORF Sequence $1500.00
XM_005256294, 578828910 XP_005256351, 530424693 Fanconi anemia group A protein isoform X1 ORF Sequence $1500.00
XM_006721167, 578828906 XP_006721230, 578828907 Fanconi anemia group A protein isoform X2 ORF Sequence $1500.00
XM_006721168, 578828908 XP_006721231, 578828909 Fanconi anemia group A protein isoform X3 ORF Sequence $1500.00
KEGG
hsa03460Fanconi anemia pathway
hsa_M00413FA core complex
Pathway Interaction Database
bard1pathwayBARD1 signaling events
Reactome
REACT_216DNA Repair
REACT_18410Fanconi Anemia pathway
Homo sapiens (human)FANCANP_000126.2
Pan troglodytes (chimpanzee)FANCAXP_003315314.2
Canis lupus familiaris (dog)FANCAXP_850915.2
Bos taurus (cattle)FANCANP_001193532.1
Mus musculus (house mouse)FancaNP_058621.2
Rattus norvegicus (Norway rat)FancaNP_001101925.1
Gallus gallus (chicken)FANCANP_001127831.1
Danio rerio (zebrafish)fancaNP_001035725.1
Xenopus (Silurana) tropicalis (western clawed frog)fancaXP_002933731.2
Process
IDNameEvidence
GO:0006281DNA repairTAS
GO:0006461protein complex assemblyTAS
GO:0007140male meiosisIEA
GO:0008584male gonad developmentIEA
GO:0008585female gonad developmentIEA
GO:0042127regulation of cell proliferationIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0043240Fanconi anaemia nuclear complexIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards FANCA
UniProt Q86U55, O15360
Vega OTTHUMG00000173049
MIM 607139
Ensembl ENSG00000187741
HGNC 3582
HPRD 06186

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the FANCA gene?

The FANCA gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

The FANCA protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCA) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attract DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.