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Protein Page:
SPATA7 (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

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
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

Protein Structure Not Found.


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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
 

Show Multiple Sequence Alignment


 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 2 K416 RHLLHVLKVDLGCTS
  mouse

 
K404-a RYLLHGLkVDLGCIS
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