Human Gene SPATA7 (ENST00000356583.9) from GENCODE V44
Description: Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 2, mRNA. (from RefSeq NM_001040428) RefSeq Summary (NM_001040428): This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Gencode Transcript: ENST00000356583.9 Gencode Gene: ENSG00000042317.17 Transcript (Including UTRs) Position: hg38 chr14:88,385,668-88,438,458 Size: 52,791 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr14:88,385,819-88,438,422 Size: 52,604 Coding Exon Count: 11
ID:SPAT7_HUMAN DESCRIPTION: RecName: Full=Spermatogenesis-associated protein 7; AltName: Full=HSD-3.1; AltName: Full=Spermatogenesis-associated protein HSD3; FUNCTION: May be involved in retinal function. DISEASE: Defects in SPATA7 are the cause of Leber congenital amaurosis type 3 (LCA3) [MIM:604232]. 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. DISEASE: Defects in SPATA7 are a cause of retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]. 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q9P0W8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.