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FANCA (human)

Overview FANCA 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. Defects in FANCA are a cause of Fanconi anemia (FA). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Protein type: DNA repair Cellular Component: nucleoplasm; cytoplasm; nucleus Molecular Function: protein binding Biological Process: male gonad development; protein complex assembly; male meiosis; DNA repair; female gonad development; regulation of cell proliferation Reference #:  O15360 (UniProtKB) Alt. Names/Synonyms: FA; FA-H; FA1; FAA; FACA; FAH; FANCA; FANCH; Fanconi anemia group A protein; Fanconi anemia, complementation group A; Fanconi anemia, complementation group H; Fanconi anemia, type 1; MGC75158; Protein FACA Gene Symbols: FANCA Molecular weight: 162,775 Da Basal Isoelectric point: 6.13  Predict pI for various phosphorylation states

Select Structure to View Below FANCA

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 227650 607139  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Sites Implicated In
chromatin organization, altered: S1449‑p molecular association, regulation: S1149‑p, S1449‑p ubiquitination: S1449‑p

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K44	PERAQKLKESAVRLL
0	1		K44-u	PERAQKLkESAVRLL
0	1		S46	RAQKLkESAVRLLRS
0	1		-	under review
0	1		-	under review
0	1		K249-u	FVLRGFQkNSDLRRT
0	1		K261-u	RRTVEPEkMPQVTVD
0	1		S303-p	RCWFGVFsGHTLGsV
0	1		S309-p	FsGHTLGsVISTDPL
0	1		T323-p	LKRFFSHtLTQILtH
0	1		T329-p	HtLTQILtHSPVLkA
0	1		K335-u	LtHSPVLkAsDAVQM
0	1		S337-p	HSPVLkAsDAVQMQR
0	1		T351-p	REWSFARtHPLLTsL
0	1		S357-p	RtHPLLTsLYRRLFV
0	1		S421-p	LMAQAFEsCQLDSMV
0	1		S458-p	WFKASFGsTRGYHGC
0	1		Y488-p	VPFESPRyLQVHILH
0	2		K515-u	TDYISLAkTRLADLk
0	1		K522-u	kTRLADLkVSIENMG
0	1		S536	GLYEDLSSAGDITEP
0	1		K608-u	VAFIESLkRADKIPP
0	1		R683-m2	QVAVISErLRAVLGH
0	1		K701-u	DSSVEISkIQLSINT
0	1		M1077	QRQRELLMYKRILLR
1	0		S1149-p	CLRSRDPsLMVDFIL
0	2		K1199-u	PLPRELQkLQEGRQF
0	1		S1208-p	QEGRQFAsDFLSPEA
0	1		S1301-p	CLEKRKIsWLALFQL
0	1		T1309-p	WLALFQLtESDLRLG
0	1		K1387-u	AGRSLELkGQGNPVE
0	1		K1398-u	NPVELITkARLFLLQ
1	20		S1449-p	AAPDADLsQEPHLF_

	mouse
K44-a	PEREQKLkDsALKLL
K44	PEREQKLKDsALKLL
S46-p	REQKLkDsALKLLRY
S86-p	DRDSADAsSDRSAsF
S92-p	AsSDRSAsFIRSAFR
G246	LISRGFQGSSDPRRL
R258	RRLVEPERLPQVATD
S299	SGWIPIYSGHTCCGV
G305	YSGHTCCGVVTENSL
T319	LKSFFSHTLTQILTH
T325	HTLTQILTHKPVLKV
K331	LTHKPVLKVSDAIQM
S333	HKPVLKVSDAIQMQK
T347	KEWSFAKTHHLLTDL
D353	KTHHLLTDLHCRVLA
S417	LMARAFESYHLDSMV
S454	WFKESFGSSHGYHSC
Y484	VPWEAPRYMQVHIFH
K511	TDYISLAKTRLADLK
K518	KTRLADLKVSLENVG
S532-p	GLYEDLSsPGDIAER
K604	VALIETLKRADKIPS
K680	QVAVVSEKLNAVLGH
K698	GGSLQRAKIQLSVLP
T1071-p	RRQQELLtCKRLLLC
A1142	CLRSQDPALVANQTL
R1192	PLPRELRRLQEAREF
S1201	QEAREFASNFASASA
S1293	CLERRKVSWLVLFQL
T1301	WLVLFQLTEKDAKLG
-	gap
K1382	SPVQLITKARVFLLQ
Y1433	ADPSFDLYQEPQLF_

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