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HMCN1 (human)

Overview HMCN1 Defects in HMCN1 are a cause of age-related macular degeneration type 1 (ARMD1). ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Protein type: Secreted; Cell adhesion; Extracellular matrix; Secreted, signal peptide Cellular Component: extracellular matrix; basement membrane; cell cortex; cell junction Molecular Function: calcium ion binding Biological Process: visual perception; response to stimulus Reference #:  Q96RW7 (UniProtKB) Alt. Names/Synonyms: ARMD1; FBLN6; FIBL-6; FIBL6; fibulin 6; Fibulin-6; hemicentin 1; Hemicentin-1; HMCN1 Gene Symbols: HMCN1 Molecular weight: 613,390 Da Basal Isoelectric point: 6.07  Predict pI for various phosphorylation states

Select Structure to View Below HMCN1

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 603075 608548  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	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		K285-a	LNIHNSAkVVNVKEP
0	1		K300-a	EAGMWTVkTSSSGRH
0	1		S308	TSSSGRHSVRITGLS
0	1		S315	SVRITGLSTIDFRAG
0	1		T316	VRITGLSTIDFRAGF
0	1		T328	AGFSRKPTLDFKKTV
0	1		T334	PTLDFKKTVSRPVQG
0	1		S336	LDFKKTVSRPVQGIP
0	1		T512-p	AGTGRAQtFFDVSEP
0	1		T530-p	IQVPNNVtVTPGERA
0	1		R567	VRLAEPARIRTLANL
0	1		R569	LAEPARIRTLANLSL
0	1		T646-p	PKPKIAWtVNDMFIV
0	1		S745-p	GDLELRPstFLIIDP
0	1		T746-p	DLELRPstFLIIDPL
0	1		S878-p	NQFGKIQsETTVtVT
0	1		T883-p	IQsETTVtVTGLVAP
0	1		S895-p	VAPLIGIsPSVANVI
0	1		T1112-p	SLPPPIItWAKETQL
0	1		S1124-p	TQLISPFsPRHTFLP
0	1		T1153	GMYLCVATNIAGNVT
0	1		T1160	TNIAGNVTQAVKLNV
0	1		A1162	IAGNVTQAVKLNVHV
0	2		S1630-p	VAGTAEKsFHVDVyV
0	2		Y1636-p	KsFHVDVyVPPMIEG
0	1		S1658-p	KQVVIAHsLTLECKA
0	2		T1674-p	GNPSPILtWLKDGVP
0	1		K1840-a	LSERVVVkYKPVALQ
0	1		S1966-p	RLLSGSTsMtFLNRG
0	1		T1968-p	LSGSTsMtFLNRGQI
0	1		S2013-p	LQVHVAPsISGSNNM
0	1		Y2267-p	EKSDAALySCVASNV
0	1		K2888-a	EVTVLVNkSALIECL
0	1		T3691-p	LGDTANYtCVAsNIA
0	1		S3695-p	ANYtCVAsNIAGKTT
0	1		S3721-p	NIKGGPQsLVILLNK
0	1		Y3781-p	HVTDTGRyLCMAtNA
0	1		T3786-p	GRyLCMAtNAAGtDR
0	1		T3791-p	MAtNAAGtDRRRIDL
0	1		T4030-p	KEGINVNtSGRNHAV
0	1		S4040-p	RNHAVLPsGGLQIsR
0	1		G4042	HAVLPsGGLQIsRAV
0	1		S4046-p	PsGGLQIsRAVREDA
0	1		S4280	KGEQLRLSCKATGIP
0	1		T4599	WSLWEECTRSCGRGN
0	1		S4601	LWEECTRSCGRGNQT
0	1		T4608	SCGRGNQTRTRTCNN
0	1		T4610	GRGNQTRTRTCNNPS
0	1		T5058	RMPFLVETLHASSVE
0	1		S5495	MCFNMRGSYQCIDTP
0	1		Y5496	CFNMRGSYQCIDTPC
0	1		Y5592	ENLKGVVYTTRPLRE

	mouse
K285	LNIHNSAKVVNVKEP
K300	EAGMWTVKTSSSGRH
S308-p	TSSSGRHsVRITGLs
S315-p	sVRITGLstIDFRAG
T316-p	VRITGLstIDFRAGF
T328-p	AGFSRKPtLDFKKtM
T334-p	PtLDFKKtMsRPVQG
S336-p	LDFKKtMsRPVQGIP
T512	AGTGRAQTFFDVSEP
T530	IQLPNNVTVTPGERA
R567	IRLADSARIRTLANL
R569	LADSARIRTLANLSL
T646	PKPKIVWTMNEMFIM
S745	GDLELRPSTFLSIDP
T746	DLELRPSTFLSIDPL
S878	NQFGKIQSQTTVTVT
T883	IQSQTTVTVTGLVAP
S895	VAPLIGISPSMASVI
T1112	SLPPPIITWAKDSQL
S1124	SQLISPFSPRHTFLP
T1153	GMYLCVATNIAGNVT
T1160	TNIAGNVTQSVKLSV
S1162	IAGNVTQSVKLSVHV
S1629	VAGTAEKSFHVDIYV
Y1635	KSFHVDIYVPPTIEG
S1657	KQVIIGQSLILECKA
T1673	GNPPPILTWLKDGVP
R1839	LPEKTVVRYKPVTLQ
S1965	HPLSGSASAAFLKRG
A1967	LSGSASAAFLKRGQV
S2012	LQVHVPPSISGSSSM
Y2266	EKADAGLYTCVASNV
K2887	EVTVLVNKSTQMECS
T3690	LGDTANYTCVASNIA
S3694	ANYTCVASNIAGKTT
S3720	SIGGGPQSLVTLLNK
Y3780	HVTDTGRYLCMATNV
T3785	GRYLCMATNVAGTDR
T3790	MATNVAGTDRRRIDL
T4029	KEGINVITSGKSLAI
S4039	KSLAILPSGsLQISR
S4041-p	LAILPSGsLQISRAV
S4045	PSGsLQISRAVRGDA
S4279-p	KGEQLRLsCKAVGIP
S4598-p	WSFWEDCsRsCGHGN
S4600-p	FWEDCsRsCGHGNQt
T4607-p	sCGHGNQtRtRTCSN
T4609-p	GHGNQtRtRTCSNPP
T5057-p	KMPFLVEtLHASSIE
S5494-p	MCFNMRGsyQCIDTP
Y5495-p	CFNMRGsyQCIDTPC
Y5591-p	ENLKGVVyTTRPLRE

	rat
K285	LNIHNSAKVVNVKEP
K300	EAGMWTVKTSSSGRH
S308	TSSSGRHSVRLTGLS
S315	SVRLTGLSTIDFRAG
T316	VRLTGLSTIDFRAGF
T328	AGFSRKPTLDFKKTM
T334	PTLDFKKTMSRPVQG
S336	LDFKKTMSRPVQGIP
T512	AGTGRAQTFFDVSEP
T530	IQVPNNVTVTPGERA
R567-m1	VRLADSArIrTLANL
R569-m1	LADSArIrTLANLSL
T646	PKPKIVWTINEMFIL
S745	GDLELRPSTFLSIDP
T746	DLELRPSTFLSIDPL
S878	NQFGKIQSQTTVTVT
T883	IQSQTTVTVTGLVTI
K895	VTISTDSKARSSLGF
T1091	SLPPPIITWAKDSQL
S1103	SQLISPFSPRHTFLP
T1132-p	GMYLCVAtNIAGNVt
T1139-p	tNIAGNVtQsVKLSV
S1141-p	IAGNVtQsVKLSVHV
S1609	VAGTAEKSFHVDIYV
Y1615	KSFHVDIYVPPIIEG
S1637	KQVVVGQSLVLECKA
T1653	GNPPPVLTWLKDGVP
R1819	LPEKTVVRYKPVSLQ
S1945	HPLAGSTSATFLKRG
T1947	LAGSTSATFLKRGQI
S1992	LQVHVPPSISGSSSM
Y2246	EKADAGLYTCVASNV
K2867	EVTVLVNKSAQMECS
T3670	LGDTANYTCVASNIA
S3674	ANYTCVASNIAGKTT
S3700	SISGGPQSLVTLLNK
Y3760	HITDTGRYLCMATNV
T3765	GRYLCMATNVAGTDR
T3770	MATNVAGTDRRRIDL
T4009	KEGINVITSGKSLAV
S4019	KSLAVLPSGSLQISR
S4021	LAVLPSGSLQISRAV
S4025	PSGSLQISRAVQGDA
S4259	KGEQLRLSCKAVGIP
S4578	WSFWEECSRSCGHGN
S4580	FWEECSRSCGHGNQT
T4587	SCGHGNQTRTRTCSN
T4589	GHGNQTRTRTCSNPP
T5037	KMPFLVETLHASSVE
-	gap
-	gap
-	gap

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