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Protein

Fanconi anemia group A protein

Gene

FANCA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

BioCyciZFISH:G66-33323-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
SIGNORiO15360.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group A protein
Short name:
Protein FACA
Gene namesi
Name:FANCA
Synonyms:FAA, FACA, FANCH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:3582. FANCA.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: ProtInc
  • Fanconi anaemia nuclear complex Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia, complementation group A (FANCA)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
See also OMIM:227650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0096388N → K in FANCA; unknown pathological significance. Corresponds to variant rs76275444dbSNPEnsembl.1
Natural variantiVAR_009639181A → V in FANCA. Corresponds to variant rs17232246dbSNPEnsembl.1
Natural variantiVAR_038012210L → R in FANCA. 1 Publication1
Natural variantiVAR_009640244L → F in FANCA. 1
Natural variantiVAR_009641252D → G in FANCA. Corresponds to variant rs17225943dbSNPEnsembl.1
Natural variantiVAR_009642435R → C in FANCA. 1 PublicationCorresponds to variant rs148473140dbSNPEnsembl.1
Natural variantiVAR_009643492H → R in FANCA. 1 Publication1
Natural variantiVAR_017497598D → N in FANCA. 2 Publications1
Natural variantiVAR_038013660L → P in FANCA. 1 Publication1
Natural variantiVAR_009647817L → P in FANCA. 1 Publication1
Natural variantiVAR_038015843Y → D in FANCA. 1 PublicationCorresponds to variant rs374030577dbSNPEnsembl.1
Natural variantiVAR_009648845L → P in FANCA. 1
Natural variantiVAR_017498858S → R in FANCA. 2 PublicationsCorresponds to variant rs17233141dbSNPEnsembl.1
Natural variantiVAR_038016869Q → P in FANCA. 1 PublicationCorresponds to variant rs780825099dbSNPEnsembl.1
Natural variantiVAR_0096491055R → L in FANCA. 1 Publication1
Natural variantiVAR_0174991055R → W in FANCA. 1 PublicationCorresponds to variant rs753063086dbSNPEnsembl.1
Natural variantiVAR_0175001082L → P in FANCA. 1 Publication1
Natural variantiVAR_0175011088S → F in FANCA. 2 PublicationsCorresponds to variant rs17233497dbSNPEnsembl.1
Natural variantiVAR_0096501110H → P in FANCA; loss of function. 2 Publications1
Natural variantiVAR_0096511117R → G in FANCA. 2 PublicationsCorresponds to variant rs149277003dbSNPEnsembl.1
Natural variantiVAR_0096521128Q → E in FANCA. 1 Publication1
Natural variantiVAR_0096531131T → A in FANCA. 2 PublicationsCorresponds to variant rs574034197dbSNPEnsembl.1
Natural variantiVAR_0380191249L → P in FANCA. 1 PublicationCorresponds to variant rs753316789dbSNPEnsembl.1
Natural variantiVAR_0175021262F → L in FANCA. 1 Publication1
Natural variantiVAR_0096541263Missing in FANCA. 2 Publications1
Natural variantiVAR_0096561302W → R in FANCA. 1 Publication1
Natural variantiVAR_0175051324P → L in FANCA. 2 PublicationsCorresponds to variant rs182657062dbSNPEnsembl.1
Natural variantiVAR_0380201346A → T in FANCA; uncertain pathological significance. 1 PublicationCorresponds to variant rs17227396dbSNPEnsembl.1
Natural variantiVAR_0175031359D → Y in FANCA. 1 Publication1
Natural variantiVAR_0175041360M → I in FANCA. 1 Publication1
Natural variantiVAR_0380211400R → H in FANCA. 1 PublicationCorresponds to variant rs149851163dbSNPEnsembl.1
Natural variantiVAR_0096581417H → D in FANCA. 1 PublicationCorresponds to variant rs17227403dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi2175.
MalaCardsiFANCA.
MIMi227650. phenotype.
OpenTargetsiENSG00000187741.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27995.

Polymorphism and mutation databases

BioMutaiFANCA.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871791 – 1455Fanconi anemia group A proteinAdd BLAST1455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1449PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15360.
MaxQBiO15360.
PaxDbiO15360.
PeptideAtlasiO15360.
PRIDEiO15360.

PTM databases

iPTMnetiO15360.
PhosphoSitePlusiO15360.

Expressioni

Gene expression databases

BgeeiENSG00000187741.
ExpressionAtlasiO15360. baseline and differential.
GenevisibleiO15360. HS.

Organism-specific databases

HPAiHPA063236.

Interactioni

Subunit structurei

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Interacts with FAAP20/C1orf86; interaction is direct.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FAAP100Q0VG063EBI-81570,EBI-2557990
FANCFQ9NPI85EBI-81570,EBI-81589
FANCGO1528710EBI-81570,EBI-81610
GRB2P629932EBI-81570,EBI-401755

Protein-protein interaction databases

BioGridi108472. 77 interactors.
DIPiDIP-32650N.
IntActiO15360. 16 interactors.
MINTiMINT-96367.
STRINGi9606.ENSP00000373952.

Structurei

3D structure databases

ProteinModelPortaliO15360.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi18 – 34Nuclear localization signalSequence analysisAdd BLAST17

Phylogenomic databases

eggNOGiENOG410IFHR. Eukaryota.
ENOG411030W. LUCA.
GeneTreeiENSGT00390000007852.
HOVERGENiHBG051547.
InParanoidiO15360.
KOiK10888.
OMAiSFCQNLM.
OrthoDBiEOG091G00WK.
PhylomeDBiO15360.
TreeFamiTF333412.

Family and domain databases

InterProiIPR003516. FANCA.
IPR031729. Fanconi_A_N.
[Graphical view]
PfamiPF03511. Fanconi_A. 1 hit.
PF15865. Fanconi_A_N. 1 hit.
[Graphical view]
PRINTSiPR00826. FANCONIAGENE.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O15360-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL
60 70 80 90 100
LRSHQDLNAL LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD
110 120 130 140 150
QASRLGVPVG ILSAGMVASS VGQICTAPAE TSHPVLLTVE QRKKLSSLLE
160 170 180 190 200
FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE AVWHLHVQGI VSLQELLESH
210 220 230 240 250
PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ MFVLRGFQKN
260 270 280 290 300
SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
310 320 330 340 350
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR
360 370 380 390 400
THPLLTSLYR RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF
410 420 430 440 450
PEAQQLLEDW VARLMAQAFE SCQLDSMVTA FLVVRQAALE GPSAFLSYAD
460 470 480 490 500
WFKASFGSTR GYHGCSKKAL VFLFTFLSEL VPFESPRYLQ VHILHPPLVP
510 520 530 540 550
GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI TEPHSQALQD
560 570 580 590 600
VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
610 620 630 640 650
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL
660 670 680 690 700
GQLTAALGEL RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS
710 720 730 740 750
KIQLSINTPR LEPREHMAVD LLLTSFCQNL MAASSVAPPE RQGPWAALFV
760 770 780 790 800
RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH VLGLAALAVH LGESRSALPE
810 820 830 840 850
VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA ISYSLCKFSS
860 870 880 890 900
QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
910 920 930 940 950
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE
960 970 980 990 1000
RQDFHQWAIH EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH
1010 1020 1030 1040 1050
SENSDLVFGG RTGNEDIISR LQEMVADLEL QQDLIVPLGH TPSQEHFLFE
1060 1070 1080 1090 1100
IFRRRLQALT SGWSVAASLQ RQRELLMYKR ILLRLPSSVL CGSSFQAEQP
1110 1120 1130 1140 1150
ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN ACLRSRDPSL
1160 1170 1180 1190 1200
MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
1210 1220 1230 1240 1250
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD
1260 1270 1280 1290 1300
CEREELLVFL FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI
1310 1320 1330 1340 1350
SWLALFQLTE SDLRLGRLLL RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE
1360 1370 1380 1390 1400
EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA GRSLELKGQG NPVELITKAR
1410 1420 1430 1440 1450
LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ QAAPDADLSQ

EPHLF
Length:1,455
Mass (Da):162,775
Last modified:May 15, 2007 - v2
Checksum:i5A1918F2BEF4BC50
GO
Isoform 2 (identifier: O15360-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-1455: Missing.

Note: No experimental confirmation available.
Show »
Length:297
Mass (Da):32,984
Checksum:iB48C851402C58AB8
GO
Isoform 3 (identifier: O15360-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1390-1455: GNPVELITKA...ADLSQEPHLF → AGQPRGTDNKSSSFSAAVNTSVPEKELLTRGRAAG

Note: No experimental confirmation available.
Show »
Length:1,424
Mass (Da):159,083
Checksum:i8191730DAE4E24C8
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0096376V → D.Corresponds to variant rs1800282dbSNPEnsembl.1
Natural variantiVAR_0096388N → K in FANCA; unknown pathological significance. Corresponds to variant rs76275444dbSNPEnsembl.1
Natural variantiVAR_050982131T → S.Corresponds to variant rs34491278dbSNPEnsembl.1
Natural variantiVAR_050983176S → F.Corresponds to variant rs35566151dbSNPEnsembl.1
Natural variantiVAR_009639181A → V in FANCA. Corresponds to variant rs17232246dbSNPEnsembl.1
Natural variantiVAR_038012210L → R in FANCA. 1 Publication1
Natural variantiVAR_009640244L → F in FANCA. 1
Natural variantiVAR_009641252D → G in FANCA. Corresponds to variant rs17225943dbSNPEnsembl.1
Natural variantiVAR_017496266T → A.4 PublicationsCorresponds to variant rs7190823dbSNPEnsembl.1
Natural variantiVAR_050984277A → G.Corresponds to variant rs35880318dbSNPEnsembl.1
Natural variantiVAR_050985286Q → R.Corresponds to variant rs13336566dbSNPEnsembl.1
Natural variantiVAR_050986412A → V.1 PublicationCorresponds to variant rs11646374dbSNPEnsembl.1
Natural variantiVAR_009642435R → C in FANCA. 1 PublicationCorresponds to variant rs148473140dbSNPEnsembl.1
Natural variantiVAR_009643492H → R in FANCA. 1 Publication1
Natural variantiVAR_009644501G → S Common polymorphism. 7 PublicationsCorresponds to variant rs2239359dbSNPEnsembl.1
Natural variantiVAR_017497598D → N in FANCA. 2 Publications1
Natural variantiVAR_050987643P → A.Corresponds to variant rs17232910dbSNPEnsembl.1
Natural variantiVAR_038013660L → P in FANCA. 1 Publication1
Natural variantiVAR_061649717M → I.2 PublicationsCorresponds to variant rs1131660dbSNPEnsembl.1
Natural variantiVAR_009645739P → L.1 PublicationCorresponds to variant rs45441106dbSNPEnsembl.1
Natural variantiVAR_038014761V → E.1 Publication1
Natural variantiVAR_009646809G → D Common polymorphism. 4 PublicationsCorresponds to variant rs7195066dbSNPEnsembl.1
Natural variantiVAR_009647817L → P in FANCA. 1 Publication1
Natural variantiVAR_038015843Y → D in FANCA. 1 PublicationCorresponds to variant rs374030577dbSNPEnsembl.1
Natural variantiVAR_009648845L → P in FANCA. 1
Natural variantiVAR_017498858S → R in FANCA. 2 PublicationsCorresponds to variant rs17233141dbSNPEnsembl.1
Natural variantiVAR_038016869Q → P in FANCA. 1 PublicationCorresponds to variant rs780825099dbSNPEnsembl.1
Natural variantiVAR_038017951R → Q.1 PublicationCorresponds to variant rs755922289dbSNPEnsembl.1
Natural variantiVAR_038018951R → W.1 PublicationCorresponds to variant rs755546887dbSNPEnsembl.1
Natural variantiVAR_0096491055R → L in FANCA. 1 Publication1
Natural variantiVAR_0174991055R → W in FANCA. 1 PublicationCorresponds to variant rs753063086dbSNPEnsembl.1
Natural variantiVAR_0175001082L → P in FANCA. 1 Publication1
Natural variantiVAR_0175011088S → F in FANCA. 2 PublicationsCorresponds to variant rs17233497dbSNPEnsembl.1
Natural variantiVAR_0096501110H → P in FANCA; loss of function. 2 Publications1
Natural variantiVAR_0096511117R → G in FANCA. 2 PublicationsCorresponds to variant rs149277003dbSNPEnsembl.1
Natural variantiVAR_0096521128Q → E in FANCA. 1 Publication1
Natural variantiVAR_0096531131T → A in FANCA. 2 PublicationsCorresponds to variant rs574034197dbSNPEnsembl.1
Natural variantiVAR_0380191249L → P in FANCA. 1 PublicationCorresponds to variant rs753316789dbSNPEnsembl.1
Natural variantiVAR_0175021262F → L in FANCA. 1 Publication1
Natural variantiVAR_0096541263Missing in FANCA. 2 Publications1
Natural variantiVAR_0096551287V → I.Corresponds to variant rs17227354dbSNPEnsembl.1
Natural variantiVAR_0096561302W → R in FANCA. 1 Publication1
Natural variantiVAR_0175051324P → L in FANCA. 2 PublicationsCorresponds to variant rs182657062dbSNPEnsembl.1
Natural variantiVAR_0096571328T → A.1 PublicationCorresponds to variant rs9282681dbSNPEnsembl.1
Natural variantiVAR_0380201346A → T in FANCA; uncertain pathological significance. 1 PublicationCorresponds to variant rs17227396dbSNPEnsembl.1
Natural variantiVAR_0175031359D → Y in FANCA. 1 Publication1
Natural variantiVAR_0175041360M → I in FANCA. 1 Publication1
Natural variantiVAR_0380211400R → H in FANCA. 1 PublicationCorresponds to variant rs149851163dbSNPEnsembl.1
Natural variantiVAR_0096581417H → D in FANCA. 1 PublicationCorresponds to variant rs17227403dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007039298 – 1455Missing in isoform 2. 1 PublicationAdd BLAST1158
Alternative sequenceiVSP_0546821390 – 1455GNPVE…EPHLF → AGQPRGTDNKSSSFSAAVNT SVPEKELLTRGRAAG in isoform 3. 1 PublicationAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99226 mRNA. Translation: CAA67610.1.
Z83067
, Z83068, Z83069, Z83070, Z83071, Z83072, Z83073, Z83074, Z83075, Z83076, Z83077, Z83078, Z83079, Z83080, Z83081, Z83082, Z83083, Z83084, Z83085, Z83086, Z83087, Z83088, Z83089, Z83090, Z83091, Z83092, Z83093, Z83094, Z83095, Z83151 Genomic DNA. Translation: CAB05445.1.
AK299282 mRNA. Translation: BAG61299.1.
AC005360 Genomic DNA. Translation: AAC28751.1.
AC005565 Genomic DNA. Translation: AAC33304.1.
AC005567 Genomic DNA. Translation: AAC33401.1.
AY598423 Genomic DNA. Translation: AAS99350.1.
AC092385 Genomic DNA. No translation available.
BC008979 mRNA. Translation: AAH08979.1.
BC141972 mRNA. Translation: AAI41973.1.
AJ225084 Genomic DNA. Translation: CAA12393.1.
AJ225085 Genomic DNA. Translation: CAA12394.1.
AF054569 Genomic DNA. Translation: AAC28331.1.
CCDSiCCDS32515.1. [O15360-1]
CCDS42221.1. [O15360-2]
CCDS67099.1. [O15360-3]
PIRiT02755.
RefSeqiNP_000126.2. NM_000135.2. [O15360-1]
NP_001018122.1. NM_001018112.1. [O15360-2]
NP_001273096.1. NM_001286167.1. [O15360-3]
UniGeneiHs.744083.

Genome annotation databases

EnsembliENST00000389301; ENSP00000373952; ENSG00000187741. [O15360-1]
ENST00000389302; ENSP00000373953; ENSG00000187741. [O15360-2]
ENST00000568369; ENSP00000456829; ENSG00000187741. [O15360-3]
GeneIDi2175.
KEGGihsa:2175.
UCSCiuc002fou.2. human. [O15360-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99226 mRNA. Translation: CAA67610.1.
Z83067
, Z83068, Z83069, Z83070, Z83071, Z83072, Z83073, Z83074, Z83075, Z83076, Z83077, Z83078, Z83079, Z83080, Z83081, Z83082, Z83083, Z83084, Z83085, Z83086, Z83087, Z83088, Z83089, Z83090, Z83091, Z83092, Z83093, Z83094, Z83095, Z83151 Genomic DNA. Translation: CAB05445.1.
AK299282 mRNA. Translation: BAG61299.1.
AC005360 Genomic DNA. Translation: AAC28751.1.
AC005565 Genomic DNA. Translation: AAC33304.1.
AC005567 Genomic DNA. Translation: AAC33401.1.
AY598423 Genomic DNA. Translation: AAS99350.1.
AC092385 Genomic DNA. No translation available.
BC008979 mRNA. Translation: AAH08979.1.
BC141972 mRNA. Translation: AAI41973.1.
AJ225084 Genomic DNA. Translation: CAA12393.1.
AJ225085 Genomic DNA. Translation: CAA12394.1.
AF054569 Genomic DNA. Translation: AAC28331.1.
CCDSiCCDS32515.1. [O15360-1]
CCDS42221.1. [O15360-2]
CCDS67099.1. [O15360-3]
PIRiT02755.
RefSeqiNP_000126.2. NM_000135.2. [O15360-1]
NP_001018122.1. NM_001018112.1. [O15360-2]
NP_001273096.1. NM_001286167.1. [O15360-3]
UniGeneiHs.744083.

3D structure databases

ProteinModelPortaliO15360.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108472. 77 interactors.
DIPiDIP-32650N.
IntActiO15360. 16 interactors.
MINTiMINT-96367.
STRINGi9606.ENSP00000373952.

PTM databases

iPTMnetiO15360.
PhosphoSitePlusiO15360.

Polymorphism and mutation databases

BioMutaiFANCA.

Proteomic databases

EPDiO15360.
MaxQBiO15360.
PaxDbiO15360.
PeptideAtlasiO15360.
PRIDEiO15360.

Protocols and materials databases

DNASUi2175.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389301; ENSP00000373952; ENSG00000187741. [O15360-1]
ENST00000389302; ENSP00000373953; ENSG00000187741. [O15360-2]
ENST00000568369; ENSP00000456829; ENSG00000187741. [O15360-3]
GeneIDi2175.
KEGGihsa:2175.
UCSCiuc002fou.2. human. [O15360-1]

Organism-specific databases

CTDi2175.
DisGeNETi2175.
GeneCardsiFANCA.
GeneReviewsiFANCA.
HGNCiHGNC:3582. FANCA.
HPAiHPA063236.
MalaCardsiFANCA.
MIMi227650. phenotype.
607139. gene.
neXtProtiNX_O15360.
OpenTargetsiENSG00000187741.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27995.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFHR. Eukaryota.
ENOG411030W. LUCA.
GeneTreeiENSGT00390000007852.
HOVERGENiHBG051547.
InParanoidiO15360.
KOiK10888.
OMAiSFCQNLM.
OrthoDBiEOG091G00WK.
PhylomeDBiO15360.
TreeFamiTF333412.

Enzyme and pathway databases

BioCyciZFISH:G66-33323-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
SIGNORiO15360.

Miscellaneous databases

ChiTaRSiFANCA. human.
GeneWikiiFANCA.
GenomeRNAii2175.
PROiO15360.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187741.
ExpressionAtlasiO15360. baseline and differential.
GenevisibleiO15360. HS.

Family and domain databases

InterProiIPR003516. FANCA.
IPR031729. Fanconi_A_N.
[Graphical view]
PfamiPF03511. Fanconi_A. 1 hit.
PF15865. Fanconi_A_N. 1 hit.
[Graphical view]
PRINTSiPR00826. FANCONIAGENE.
ProtoNetiSearch...

Entry informationi

Entry nameiFANCA_HUMAN
AccessioniPrimary (citable) accession number: O15360
Secondary accession number(s): A5D923
, B4DRI7, H3BSR5, O75266, Q6PL10, Q92497, Q96H18, Q9UEA5, Q9UEL8, Q9UEL9, Q9UPK3, Q9Y6M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 15, 2007
Last modified: November 2, 2016
This is version 160 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.