KEGG   Homo sapiens (human): 55812
Entry
55812             CDS       T01001                                 
Symbol
SPATA7, HEL-S-296, HSD-3.1, HSD3, LCA3, RP94
Name
(RefSeq) spermatogenesis associated 7
  KO
K19655  spermatogenesis-associated protein 7
Organism
hsa  Homo sapiens (human)
Disease
H00527  Retinitis pigmentosa
H00837  Leber congenital amaurosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    55812 (SPATA7)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Sperm associated proteins
   55812 (SPATA7)
SSDB
Motif
Pfam: HSD3 YPEB_N
Other DBs
NCBI-GeneID: 55812
NCBI-ProteinID: NP_060888
OMIM: 609868
HGNC: 20423
Ensembl: ENSG00000042317
UniProt: Q9P0W8 V9HVY9
Position
14:88385657..88470350
AA seq 599 aa
MDGSRRVRATSVLPRYGPPCLFKGHLSTKSNAFCTDSSSLRLSTLQLVKNHMAVHYNKIL
SAKAAVDCSVPVSVSTSIKYADQQRREKLKKELAQCEKEFKLTKTAMRANYKNNSKSLFN
TLQKPSGEPQIEDDMLKEEMNGFSSFARSLVPSSERLHLSLHKSSKVITNGPEKNSSSSP
SSVDYAASGPRKLSSGALYGRRPRSTFPNSHRFQLVISKAPSGDLLDKHSELFSNKQLPF
TPRTLKTEAKSFLSQYRYYTPAKRKKDFTDQRIEAETQTELSFKSELGTAETKNMTDSEM
NIKQASNCVTYDAKEKIAPLPLEGHDSTWDEIKDDALQHSSPRAMCQYSLKPPSTRKIYS
DEEELLYLSFIEDVTDEILKLGLFSNRFLERLFERHIKQNKHLEEEKMRHLLHVLKVDLG
CTSEENSVKQNDVDMLNVFDFEKAGNSEPNELKNESEVTIQQERQQYQKALDMLLSAPKD
ENEIFPSPTEFFMPIYKSKHSEGVIIQQVNDETNLETSTLDENHPSISDSLTDRETSVNV
IEGDSDPEKVEISNGLCGLNTSPSQSVQFSSVKGDNNHDMELSTLKIMEMSIEDCPLDV
NT seq 1800 nt   +upstreamnt  +downstreamnt
atggatggcagccggagagtcagagcaacctctgtccttcccagatatggtccaccgtgc
ctatttaaaggacacttgagcaccaaaagtaatgctttttgcactgactcctcttctctc
agactaagcactctccagctggtcaagaatcacatggctgttcactataataaaatcctt
tcagccaaagctgcagtagactgctcggttccagtaagcgtgagtaccagcataaagtat
gcagaccaacaacgaagagagaaactcaaaaaggaattagcacaatgtgaaaaagagttc
aaattaactaaaactgcaatgcgagccaattataaaaataattccaagtcactttttaat
accttacaaaagccctcaggcgaaccgcaaattgaggatgacatgttaaaagaagaaatg
aatggattttcatcctttgcaaggtcactagtaccctcttcagagagactacacctaagt
ctacataaatccagtaaagtcatcacaaatggtcctgagaagaactccagttcctccccg
tccagtgtggattatgcagcctccgggccccggaaactgagctctggagccctgtatggc
agaaggcccagaagcacattcccaaattcccaccggtttcagttagtcatttcgaaagca
cccagtggggatcttttggataaacattctgaactcttttctaacaaacaattgccattc
actcctcgcactttaaaaacagaagcaaaatctttcctgtcacagtatcgctattataca
cctgccaaaagaaaaaaggattttacagatcaacggatagaagctgaaacccagactgaa
ttaagctttaaatctgagttggggacagctgagactaaaaacatgacagattcagaaatg
aacataaagcaggcatctaattgtgtgacatatgatgccaaagaaaaaatagctccttta
cctttagaagggcatgactcaacatgggatgagattaaggatgatgctcttcagcattcc
tcaccaagggcaatgtgtcagtattccctgaagcccccttcaactcgtaaaatctactct
gatgaagaagaactgttgtatctgagtttcattgaagatgtaacagatgaaattttgaaa
cttggtttattttcaaacaggtttttagaacgactgttcgagcgacatataaaacaaaat
aaacatttggaggaggaaaaaatgcgccacctgctgcatgtcctgaaagtagacttaggc
tgcacatcggaggaaaactcggtaaagcaaaatgatgttgatatgttgaatgtatttgat
tttgaaaaggctgggaattcagaaccaaatgaattaaaaaatgaaagtgaagtaacaatt
cagcaggaacgtcaacaataccaaaaggctttggatatgttattgtcggcaccaaaggat
gagaacgagatattcccttcaccaactgaatttttcatgcctatttataaatcaaagcat
tcagaaggggttataattcaacaggtgaatgatgaaacaaatcttgaaacttcaactttg
gatgaaaatcatccaagtatttcagacagtttaacagatcgggaaacttctgtgaatgtc
attgaaggtgatagtgaccctgaaaaggttgagatttcaaatggattatgtggtcttaac
acatcaccctcccaatctgttcagttctccagtgtcaaaggcgacaataatcatgacatg
gagttatcaactcttaaaatcatggaaatgagcattgaggactgccctttggatgtttaa

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