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SPATA7 (human)

Overview SPATA7 May be involved in retinal function. Defects in SPATA7 are the cause of Leber congenital amaurosis type 3 (LCA3). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in SPATA7 are a cause of retinitis pigmentosa autosomal recessive (ARRP). ARRP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB. Biological Process: visual perception; response to stimulus; spermatogenesis Reference #:  Q9P0W8 (UniProtKB) Alt. Names/Synonyms: DKFZp686D07199; HSD-3.1; HSD3; LCA3; MGC102934; SPAT7; SPATA7; spermatogenesis associated 7; Spermatogenesis-associated protein 7; Spermatogenesis-associated protein HSD3 Gene Symbols: SPATA7 Molecular weight: 67,719 Da Basal Isoelectric point: 5.9  Predict pI for various phosphorylation states

Select Structure to View Below SPATA7

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 268000 604232 609868  |  InnateDB  |  UniProtKB  |  Entrez-Gene  |  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		Y16-p	ATSVLPRyGPPCLFK
0	1		S39-p	AFCTDSSsLRLSTLQ
0	1		S178-p	GPEKNSSsSPSSVDy
0	1		Y185-p	sSPSSVDyAASGPRK
0	1		S195-p	SGPRKLSsGALYGRR
0	1		T206-p	YGRRPRStFPNSHRF
0	1		T289-p	SFKSELGtAETKNMT
0	2		K416	RHLLHVLKVDLGCTS
0	1		Y467-p	IQQERQQyQKALDML

	mouse
Y16	ATSVLPRYSPPCLFT
S39	AFCTDSSSLRLSTLQ
T177	GTQKHASTSPSRHSG
-	under review
-	under review
-	gap
T276	SFNSELGTAEKTSSK
K404-a	RYLLHGLkVDLGCIS
Y455	SHHERQQYQEALDML

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