SPATA7
entrez
55812
canonical
uniprot
Q9P0W8
canonical
ensembl
ENSG00000042317
resolver
ensp
ENSP00000348991
resolver
ensp
ENSP00000377176
resolver
ensp
ENSP00000679561
resolver
ensp
ENSP00000679562
resolver
genesymbol
HEL-S-296
resolver
genesymbol
SPATA7
resolver
genesymbol_syn
HSD3
resolver
genesymbol_syn
SPATA7
resolver
hgnc
HGNC:20423
resolver
uniprot
Q5BKY5
resolver
uniprot
Q8WX30
resolver
uniprot
Q96HF3
resolver
uniprot
Q9H0X0
resolver
uniprot
Q9P0W7
resolver
uniprot
V9HVY9
resolver
uniprot_entry
SPAT7_HUMAN
resolver
uniprot_entry
V9HVY9_HUMAN
resolver
uniprot_sec
Q5BKY5
resolver
uniprot_sec
Q8WX30
resolver
uniprot_sec
Q96HF3
resolver
uniprot_sec
Q9H0X0
resolver
uniprot_sec
Q9P0W7
resolver
amino_acid_sequence
MDGSRRVRATSVLPRYGPPCLFKGHLSTKSNAFCTDSSSLRLSTLQLVKNHMAVHYNKILSAKAAVDCSVPVSVSTSIKYADQQRREKLKKELAQCEKEFKLTKTAMRANYKNNSKSLFNTLQKPSGEPQIEDDMLKEEMNGFSSFARSLVPSSERLHLSLHKSSKVITNGPEKNSSSSPSSVDYAASGPRKLSSGALYGRRPRSTFPNSHRFQLVISKAPSGDLLDKHSELFSNKQLPFTPRTLKTEAKSFLSQYRYYTPAKRKKDFTDQRIEAETQTELSFKSELGTAETKNMTDSEMNIKQASNCVTYDAKEKIAPLPLEGHDSTWDEIKDDALQHSSPRAMCQYSLKPPSTRKIYSDEEELLYLSFIEDVTDEILKLGLFSNRFLERLFERHIKQNKHLEEEKMRHLLHVLKVDLGCTSEENSVKQNDVDMLNVFDFEKAGNSEPNELKNESEVTIQQERQQYQKALDMLLSAPKDENEIFPSPTEFFMPIYKSKHSEGVIIQQVNDETNLETSTLDENHPSISDSLTDRETSVNVIEGDSDPEKVEISNGLCGLNTSPSQSVQFSSVKGDNNHDMELSTLKIMEMSIEDCPLDV
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 3 (LCA3) [MIM:604232]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:19268277}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 94, variable age at onset, autosomal recessive (RP94) [MIM:604232]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa 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. {ECO:0000269|PubMed:19268277}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity). {ECO:0000250|UniProtKB:Q80VP2}.
uniprot
proteins
mass_dalton
67719
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12736779
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19268277
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
25398945
uniprot
proteins
pubmed
26167768
uniprot
proteins
sequence_length
599
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:25398945}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:25398945}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:25398945}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q80VP2}. Note=Localizes to the microtubule network. {ECO:0000269|PubMed:25398945}.
uniprot
proteins