KEGG   Homo sapiens (human): 26160
Entry
26160             CDS       T01001                                 
Symbol
IFT172, BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim
Name
(RefSeq) intraflagellar transport 172
  KO
K19676  intraflagellar transport protein 172
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
H00527  Retinitis pigmentosa
H02157  Short-rib thoracic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    26160 (IFT172)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Intraflagellar transport (IFT) complex B2
   26160 (IFT172)
SSDB
Motif
Pfam: TPR_IF140-IFT172 TPR_GEMI5 WD40_CDC20-Fz TPR_ELP1 WD40_WDHD1_1st TPR_IFT80_172 WD40 Clathrin Beta-prop_EML_2 ANAPC4_WD40 Beta-prop_WDR19_1st Beta-prop_RIG_2nd WD40_Prp19 WDR55 Beta-prop_HPS5 Beta-prop_WDR35_TULP_N Beta-prop_TEP1_2nd Beta-prop_IFT80_2nd Beta-prop_NUP159_NUP214 Beta-prop_IFT140_1st RPN7 Beta-prop_Vps41 HAT_PRP39_C TPR_COPA_B PEP5_VPS11_N
Other DBs
NCBI-GeneID: 26160
NCBI-ProteinID: NP_056477
OMIM: 607386
HGNC: 30391
Ensembl: ENSG00000138002
UniProt: Q9UG01
Structure
LinkDB
Position
2:complement(27444377..27489743)
AA seq 1749 aa
MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADM
KYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQW
PAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYF
FDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQE
REFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSR
LCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEV
KILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLV
EYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIG
TVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVA
QNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFG
TAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFL
HETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHR
WDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPA
KAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMK
AVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAI
YILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKL
AMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLV
GKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVART
QGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHK
TPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVA
EVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEAL
QEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAE
LSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRV
AKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYK
ILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAY
HSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARL
SVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDF
QDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTG
VRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGG
LPSTSFSFQ
NT seq 5250 nt   +upstreamnt  +downstreamnt
atgcacttgaagcacctgaggaccctgctgagccctcaggatggagctgcaaaggtgacc
tgcatggcttggtcccagaacaatgccaaatttgctgtctgcacagtggaccgagtggtc
ttgctgtatgatgaacatggagaacggagagataaattctccaccaaaccagctgacatg
aagtatggcaggaagagctatatggtgaagggcatggctttttctcctgattccactaaa
attgccataggacagactgacaacatcatctatgtctacaagattggagaagattggggt
gacaagaaagtcatctgcaacaagttcatccagacgagtgctgtcacttgtctgcaatgg
ccggcagaatacatcattgtctttggactggctgaagggaaggttcgtttagcaaacacc
aaaactaataaatcatctaccatctatgggacagagtcttacgtggtgtccctgacaaca
aattgctctgggaaaggaattctctctggtcatgcagatggtaccatcgttaggtatttc
tttgatgatgaaggctctggagagtcacaggggaagttggttaaccacccgtgtccaccc
tatgccttggcatgggcaaccaatagcatcgtggctgcaggctgtgatcggaaaattgta
gcctatggaaaagaaggtcacatgctacaaacttttgattatagccgtgaccctcaggag
cgggagttcaccacagctgtatcaagtcctgggggccagtctgttgtgctaggaagttat
gacaggcttcgggtgttcaactggatccctcgaagaagcatctgggaagaggcaaagccc
aaggagattaccaatttatacaccatcactgccttggcctggaagcgggatggctcacgg
ctctgtgtgggcacactatgtggtggggtggaacagtttgactgctgcctccgaaggagt
atttacaagaacaagtttgagttgacgtatgtgggacctagccaggtgattgtgaagaac
ctgtcatcaggaacccgagtggtgctcaagtcacactatggctatgaggtggaagaggtg
aaaatcctaggaaaggaacgttacttggtggctcacacatcagaaacactgctgctgggg
gacctgaacactaatcggcttagtgagatagcctggcaaggatctggtggcaatgagaag
tatttctttgaaaatgagaatgtatgcatgatcttcaatgccggagagctaaccctggtg
gaatatgggaataatgacaccctgggttctgtacgcactgaattcatgaacccccacctc
atcagtgttcgtattaatgagaggtgtcagcgaggaacagaagataataagaaattggct
tatcttattgatattaagactattgctatagtggatctgattggtggctacaacattggc
accgtcagccatgagagccgtgtggattggctggaacttaatgagactggacacaagctc
ctcttcagggaccggaaacttcgtttgcatctgtatgatattgaaagctgctctaagaca
atgatcctcaacttctgctcctatatgcagtgggtcccaggaagtgacgtgctggtagct
cagaaccgaaacagtctgtgtgtatggtacaacattgaggcacctgagagagtcaccatg
ttcactattaggggtgatgttataggtctggagcggggcgggggaaagaccgaggtgatg
gtgatggaaggtgtgactactgttgcctacacattggatgagggcctcatcgagtttgga
acagccattgatgatggcaactacatccgggcaacagccttcttagagactctggaaatg
accccagaaacagaggcaatgtggaaaaccttgagtaaactggcactagaggcaaggcaa
ctacacattgcggagaggtgcttttctgctttgggccaagtagcaaaagctcgattcctg
catgagaccaatgagattgcagatcaagtatcccgggaatatggcggagaaggaacagac
ttttatcaggtccgagcacgtctagccatgctggaaaagaactacaaactggctgaaatg
atctttttggaacagaatgctgtggaggaggccatgggcatgtaccaggagctacaccgt
tgggatgagtgtatcgctgtggctgaagccaaggggcacccagccctggagaagctacgt
cgtagttactaccagtggctgatggacacacagcaagaggagcgagcaggtgaactacag
gagagccaaggggatgggctagcagccatcagcctctacctcaaagctgggctccctgcc
aaagctgctcggctggtgctgacccgagaggaactgctagccaacacagagctggtagaa
cacatcactgcagcccttatcaagggggaactctacgaaagggcaggtgatctctttgag
aagattcacaatccacagaaggccctggagtgctaccgtaaaggcaacgcattcatgaaa
gcggtagagctggctcgattggccttcccagtggaggtggtgaaactagaggaggcatgg
ggggaccacctggtgcagcagaagcagcttgatgcagccattaatcactacatcgaagcc
aggtgctccattaaggcaattgaggccgccctgggtgcccgccagtggaagaaggcaatt
tatatattagatctacaggaccggaacactgcatccaaatactatcctctcgtggcccaa
cactatgcatccctgcaggagtatgagattgctgaggagctctatactaagggagatcgg
acaaaagatgccatagacatgtacacccaggctggtcgttgggaacaagcccacaagctg
gcgatgaaatgcatgagaccagaagatgtgtcagtgctatacatcactcaggcccaggaa
atggagaagcagggcaagtaccgtgaggctgaaaggctatatgtgacagtacaagagcct
gatcttgccatcaccatgtacaaaaagcacaagttgtatgatgacatgatccgcctggta
gggaagcaccatccagatctcctcagtgatacacacctacatctgggcaaggagctggag
gctgaaggccgactacaggaggctgagtaccactacctcgaggcccaggaatggaaggca
acagtgaacatgtaccgggccagtgggctttgggaagaggcctacagggtggccagaact
caaggaggggctaatgcccacaaacacgtggcctatctgtgggcaaagagcctgggagga
gaggctgcagttagactgcttaataagctgggactcctggaagctgctgttgaccacgct
gcagacaattgctcctttgaatttgcgtttgaactctctcggctggccctcaagcacaaa
acccccgaggttcatctcaaatatgctatgttcctggaggatgagggtaaattcgaagag
gctgaagctgaattcatcagagctggtaaacccaaggaggcagtcctcatgtttgtccat
aaccaggattgggaggcagctcagcgtgtggctgaggctcacgaccctgacagtgtcgcc
gaggtgcttgtgggacaggcccggggggccttggaggagaaggactttcagaaagcagaa
gggctgctgctccgggcccagagaccaggcctggccctcaattattataaggaggctgga
ttatggagtgacgctctgcgcatctgcaaggactatgtgcccagccagctggaggctctg
caggaagaatatgagcgggaagctactaagaagggggccaggggtgtggagggatttgtg
gaacaagctcgacactgggagcaggctggagagtacagccgtgccgtggactgctacctc
aaagtgcgagactctggaaacagcggcctggcggagaagtgctggatgaaggcagctgaa
ctctccatcaagtttctgcctccccaacgtaatatggaagtcgttctggctgtaggaccc
cagctgattggaattggaaagcacagtgcagctgcagagctctatctgaatctggacctt
gtcaaggaagcaatcgatgctttcatcgagggtgaggagtggaacaaggcgaagcgtgta
gctaaggagttagatcccaggtatgaagactatgtggaccagcattataaagagttcctc
aagaatcagggcaaagtggactcgctggtgggtgtggatgtgatagctgctttggacctg
tatgtggagcagggccagtgggacaagtgcattgaaacagctaccaagcagaactacaag
attctgcacaagtatgtggctttgtatgcaactcacttgatccgggagggtagctctgcc
caggcattggccctgtatgtacagcacggagcccctgctaacccacagaacttcaatatc
tacaaaaggatcttcactgacatggtgagctctcctggaaccaactgtgccgaggcctat
catagctgggctgatcttcgagatgtcctcttcaacctgtgtgaaaacctggtgaagtcc
agtgaggcaaactctccagcccatgaggagttcaagacgatgctgctgatcgctcattac
tatgccacgcgctctgcagcccagagtgtcaaacagctggaaaccgtggctgccaggctt
tctgtttcactcttgcgtcacacccagctactacctgtagacaaagccttctatgaagca
ggcattgctgccaaggcagttggctgggataacatggcattcatcttcctcaatcgcttt
ttggacctgaccgatgcaatcgaggaagggactctagatggccttgaccactctgatttt
caggatacagacattccctttgaggtgccactcccagctaagcagcatgtaccggaggct
gagagagaagaggttcgagactgggtgcttacagtctccatggaccagcggctggagcag
gttctgcctcgggatgagcgtggcgcctacgaggcctccctagtggcagcgagcactggt
gttcgagccctgccctgccttattacaggataccccattctgaggaacaaaattgaattt
aagcggccagggaaggctgctaacaaggacaactggaataaattccttatggccatcaag
acctcccacagcccagtgtgccaggacgtgctgaaattcatcagtcagtggtgtggaggg
ctccccagcaccagcttttcctttcagtag

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