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0FANCA_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameFANCA
DescriptionFanconi anemia group a protein (faca protein).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005737 cytoplasm (TAS)
0005634 nucleus (TAS)
0005515 protein binding (IPI)
0006281 DNA repair (TAS)
0006461 protein complex assembly (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Fanconi anaemia (FA) is a recessive inherited disease characterised bydefective DNA repair. FA cells are sensitive to DNA cross-linking agentsthat cause chromosomal instability and cell death. The disease is manifestedclinically by progressive pancytopenia.ariable physical anomalies.ndpredisposition to malignancy . Four complementation groups have beenidentified.esignated A to D. The FA group A gene (FAA) has beencloned .ut its function remains to be elucidated.
  IPR003516:Fanconi anaemia group A protein
IPR003516:Fanconi_A 
Evalue:-44.7212448120117 
Location:1253-1316IPR003516:FANCONIAGENE 
Evalue:0 
Location:1346-1369IPR003516:FANCONIAGENE 
Evalue:0 
Location:1123-1145IPR003516:FANCONIAGENE 
Evalue:0 
Location:1323-1340IPR003516:FANCONIAGENE 
Evalue:0 
Location:1238-1247IPR002086:ALDEHYDE_DEHYDR_CYS 
Evalue:0 
Location:0-0
SequencesProtein: FANCA_HUMAN (1455 aa)
mRNA: NM_000135
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 387 residues, 88331459-88332617Exon2: 33 residues, 88332790-88332883Exon3: 54 residues, 88333041-88333198Exon4: 27 residues, 88333386-88333462Exon5: 37 residues, 88333902-88334008Exon6: 23 residues, 88334712-88334775Exon7: 48 residues, 88336708-88336847Exon8: 39 residues, 88338867-88338980Exon9: 37 residues, 88340492-88340597Exon10: 22 residues, 88340739-88340799Exon11: 38 residues, 88342567-88342676Exon12: 59 residues, 88343638-88343811Exon13: 30 residues, 88346046-88346131Exon14: 45 residues, 88352485-88352614Exon15: 26 residues, 88355857-88355931Exon16: 61 residues, 88358798-88358975Exon17: 34 residues, 88361049-88361146Exon18: 64 residues, 88363745-88363933Exon19: 33 residues, 88364074-88364168Exon20: 25 residues, 88364472-88364543Exon21: 47 residues, 88365586-88365723Exon22: 40 residues, 88367179-88367293Exon23: 26 residues, 88369650-88369724Exon24: 18 residues, 88372709-88372759Exon25: 22 residues, 88372851-88372912Exon26: 31 residues, 88373777-88373866Exon27: 22 residues, 88376767-88376827Exon28: 34 residues, 88376915-88377011Exon29: 39 residues, 88378762-88378873Exon30: 46 residues, 88385311-88385445Exon31: 49 residues, 88385835-88385977Exon32: 27 residues, 88386379-88386456Exon33: 39 residues, 88389814-88389927Exon34: 24 residues, 88393074-88393141Exon35: 13 residues, 88393513-88393547Exon36: 29 residues, 88397167-88397250Exon37: 39 residues, 88399188-88399301Exon38: 26 residues, 88402202-88402276Exon39: 34 residues, 88404615-88404711Exon40: 49 residues, 88404837-88404980Exon41: 33 residues, 88408428-88408522Exon42: 38 residues, 88409785-88409895Exon43: 42 residues, 88410445-88410566Exon44: 2 residues, -Jump to FANCA_HUMAN  
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Loci Cluster (Details)Loci: 4242 88238345-88251532 ~-13K 14727(PCOLN3)(-)Loci: 4243 88331459-88410566 ~-79K 14740(FANCA)(-)Loci: 2961 88512526-88514885 ~-2K 14748(MC1R)(+)Loci: 2962 88572761-88590532 ~-18K 14760(AFG3L1)(+)Loci: 2963 88616508-88638880 ~-22K 14764(GAS8)(+)Loci: 2960 88102305-88151674 ~-49K 14720(SPG7)(+)Link out to UCSC