KEGG   Homo sapiens (human): 54806Help
Entry
54806             CDS       T01001                                 

Gene name
AHI1, AHI-1, JBTS3, ORF1, dJ71N10.1
Definition
(RefSeq) Abelson helper integration site 1
  KO
K16740  
jouberin
Organism
hsa  Homo sapiens (human)
Disease
H00530  
Joubert syndrome
Brite
Chromosome [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   TCTN-B9D complex
    54806 (AHI1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
6q23.3
AA seq 1196 aa AA seqDB search
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETT
SDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEED
KQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKE
VPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPK
PKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEW
EEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLK
LLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNK
HLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDL
SWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDL
EHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGA
ANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGS
FQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSN
MLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRV
FFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAP
QKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE
NT seq 3591 nt NT seq  +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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