KEGG   Homo sapiens (human): 54806
Entry
54806             CDS       T01001                                 
Symbol
AHI1, AHI-1, JBTS3, ORF1, dJ71N10.1
Name
(RefSeq) Abelson helper integration site 1
  KO
K16740  jouberin
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    54806 (AHI1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   54806 (AHI1)
SSDB
Motif
Pfam: WD40 SH3_1 SH3_9 SH3_2 NBCH_WD40 Vexin
Other DBs
NCBI-GeneID: 54806
NCBI-ProteinID: NP_001128302
OMIM: 608894
HGNC: 21575
Ensembl: ENSG00000135541
Pharos: Q8N157(Tbio)
UniProt: Q8N157
Structure
Position
6:complement(135283532..135497740)
AA seq 1196 aa
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETT
SDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEED
KQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKE
VPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPK
PKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEW
EEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLK
LLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNK
HLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDL
SWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDL
EHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGA
ANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGS
FQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSN
MLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRV
FFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAP
QKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE
NT seq 3591 nt   +upstreamnt  +downstreamnt
atgcctacagctgagagtgaagcaaaagtaaaaaccaaagttcgctttgaagaattgctt
aagacccacagtgatctaatgcgtgaaaagaaaaaactgaagaaaaaacttgtcaggtct
gaagaaaacatctcacctgacactattagaagcaatcttcactatatgaaagaaactaca
agtgatgatcccgacactattagaagcaatcttccccatattaaagaaactacaagtgat
gatgtaagtgctgctaacactaacaacctgaagaagagcacgagagtcactaaaaacaaa
ttgaggaacacacagttagcaactgaaaatcctaatggtgatgctagtgtagaggaagac
aaacaaggaaagccaaataaaaaggtgataaagacggtgccccagttgactacacaagac
ctgaaaccggaaactcctgagaataaggttgattctacacaccagaaaacacatacaaag
ccacagccaggcgttgatcatcagaaaagtgagaaggcaaatgagggaagagaagagact
gatttagaagaggatgaagaattgatgcaagcatatcagtgccatgtaactgaagaaatg
gcaaaggagattaagaggaaaataagaaagaaactgaaagaacagttgacttactttccc
tcagatactttattccatgatgacaaactaagcagtgaaaaaaggaaaaagaaaaaggaa
gttccagtcttctctaaagctgaaacaagtacattgaccatctctggtgacacagttgaa
ggtgaacaaaagaaagaatcttcagttagatcagtttcttcagattctcatcaagatgat
gaaataagctcaatggaacaaagcacagaagacagcatgcaagatgatacaaaacctaaa
ccaaaaaaaacaaaaaagaagactaaagcagttgcagataataatgaagatgttgatggt
gatggtgttcatgaaataacaagccgagatagcccggtttatcccaaatgtttgcttgat
gatgaccttgtcttgggagtttacattcaccgaactgatagacttaagtcagattttatg
atttctcacccaatggtaaaaattcatgtggttgatgagcatactggtcaatatgtcaag
aaagatgatagtggacggcctgtttcatcttactatgaaaaagagaatgtggattatatt
cttcctattatgacccagccatatgattttaaacagttaaaatcaagacttccagagtgg
gaagaacaaattgtatttaatgaaaattttccctatttgcttcgaggctctgatgagagt
cctaaagtcatcctgttctttgagattcttgatttcttaagcgtggatgaaattaagaat
aattctgaggttcaaaaccaagaatgtggctttcggaaaattgcctgggcatttcttaag
cttctgggagccaatggaaatgcaaacatcaactcaaaacttcgcttgcagctatattac
ccacctactaagcctcgatccccattaagtgttgttgaggcatttgaatggtggtcaaaa
tgtccaagaaatcattacccatcaacactgtacgtaactgtaagaggactgaaagttcca
gactgtataaagccatcttaccgctctatgatggctcttcaggaggaaaaaggtaaacca
gtgcattgtgaacgtcaccatgagtcaagctcagtagacacagaacctggattagaagag
tcaaaggaagtaataaagtggaaacgactccctgggcaggcttgccgtatcccaaacaaa
cacctcttctcactaaatgcaggagaacgaggatgtttttgtcttgatttctcccacaat
ggaagaatattagcagcagcttgtgccagccgggatggatatccaattattttatatgaa
attccttctggacgtttcatgagagaattgtgtggccacctcaatatcatttatgatctt
tcctggtcaaaagatgatcactacatccttacttcatcatctgatggcactgccaggata
tggaaaaatgaaataaacaatacaaatactttcagagttttacctcatccttcttttgtt
tacacggctaaattccatccagctgtaagagagctagtagttacaggatgctatgattcc
atgatacggatatggaaagttgagatgagagaagattctgccatattggtccgacagttt
gatgttcacaaaagttttatcaactcactttgttttgatactgaaggtcatcatatgtat
tcaggagattgtacaggggtgattgttgtttggaatacctatgtcaagattaatgatttg
gaacattcagtgcaccactggactataaataaggaaattaaagaaactgagtttaaggga
attccaataagttatttggagattcatcccaatggaaaacgtttgttaatccataccaaa
gacagtactttgagaattatggatctccggatattagtagcaaggaagtttgtaggagca
gcaaattatcgggagaagattcatagtactttgactccatgtgggacttttctgtttgct
ggaagtgaggatggtatagtgtatgtttggaacccagaaacaggagaacaagtagccatg
tattctgacttgccattcaagtcacccattcgagacatttcttatcatccatttgaaaat
atggttgcattctgtgcatttgggcaaaatgagccaattcttctgtatatttacgatttc
catgttgcccagcaggaggctgaaatgttcaaacgctacaatggaacatttccattacct
ggaatacaccaaagtcaagatgccctatgtacctgtccaaaactaccccatcaaggctct
tttcagattgatgaatttgtccacactgaaagttcttcaacgaagatgcagctagtaaaa
cagaggcttgaaactgtcacagaggtgatacgttcctgtgctgcaaaagtcaacaaaaat
ctctcatttacttcaccaccagcagtttcctcacaacagtctaagttaaagcagtcaaac
atgctgaccgctcaagagattctacatcagtttggtttcactcagaccgggattatcagc
atagaaagaaagccttgtaaccatcaggtagatacagcaccaacggtagtggctctttat
gactacacagcgaatcgatcagatgaactaaccatccatcgcggagacattatccgagtg
tttttcaaagataatgaagactggtggtatggcagcataggaaagggacaggaaggttat
tttccagctaatcatgtggctagtgaaacactgtatcaagaactgcctcctgagataaag
gagcgatcccctcctttaagccctgaggaaaaaactaaaatagaaaaatctccagctcct
caaaagcaatcaatcaataagaacaagtcccaggacttcagactaggctcagaatctatg
acacattctgaaatgagaaaagaacagagccatgaggaccaaggacacataatggataca
cggatgaggaagaacaagcaagcaggcagaaaagtcactctaatagagtaa

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