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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046660
Ensembl Protein ID ENSP00000356774.4
UniProt Accession Q8N157; E1P584; Q4FD35; Q504T3; Q5TCP9; Q6P098; Q6PIT6; Q8NDX0; Q9H0H2; AHI1_HUMAN
Genbank Protein ID CAD30871.1; CAD30872.1; CAE54481.1; AAY99645.1; CAB66731.1; BAC03840.1; CAI20201.1; CAI20201.1; CAI20201.1; CAI20387.1; CAI20387.1; CAI20387.1; CAI22523.1; CAI22523.1; CAI22523.1; EAW47962.1; EAW47963.1; AAH29417.1; AAH65712.1; AAH94800.1
Protein Name Jouberin; Abelson helper integration site 1 protein homolog
Genbank Nucleotide ID AJ459824; AJ459825; AJ606362; DQ090887; AL136797; AK092262; AL023693; AL049552; AL133544; AL049552; AL023693; AL133544; AL133544; AL023693; AL049552; CH471051; CH471051; BC029417; BC065712; BC094800
Gene Name AHI1
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000135541.20 ENST00000367800.8 ENSP00000356774.4
ENSG00000135541.20 ENST00000475846.6 ENSP00000435710.1
ENSG00000135541.20 ENST00000367799.6 ENSP00000356773.2
ENSG00000135541.20 ENST00000527681.1 ENSP00000433864.1
ENSG00000135541.20 ENST00000531788.5 ENSP00000432167.1
ENSG00000135541.20 ENST00000327035.10 ENSP00000322478.6
ENSG00000135541.20 ENST00000529865.1 ENSP00000434697.1
ENSG00000135541.20 ENST00000524469.5 ENSP00000433063.1
ENSG00000135541.20 ENST00000488690.6 ENSP00000433017.1
ENSG00000135541.20 ENST00000528103.2 ENSP00000436071.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPMSZDB
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProt
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 1.20e-18 68.1 853 878
UBD/SH3 8.60e-14 52.9 1055 1107
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD
   S: 12   sd.tllvsGsdDgtikvWDlrtgvll 36
           ++ t+l +Gs Dg ++vW++ tg ++
   Q: 853  PCgTFLFAGSEDGIVYVWNPETGEQV 878
           56699***************999876 PP
   

   UBD/SH3
   S: 5    kvqvlydyeaqnddeLtlkkGdvvlviekeeqdegWlkgvkelegkrGlfPenFve 60
           +v +lydy+a+ +deLt+++Gd+++v    + +e+W++g +  +g++G fP+n v+
   Q: 1055 TVVALYDYTANRSDELTIHRGDIIRVF--FKDNEDWWYG-SIGKGQEGYFPANHVA 1107
           689***********************9..8999******.799**********996 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation.
 Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation.
Protein Sequence
(Fasta)
MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT 60
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046660|E3,WD_repeat;UBD,SH3|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
TGACGTCAGC AGGCGGCGCG CTGTCCGCAC TGCGGCACAG AGCCGCGGCT TGCTTTCAGG 60
ACACGGGTCG CTGGCGGGTT AGGTGGCTGC GTGGCCGCCT CACTTCGCGC ACGCGCCGCT 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046660|E3,WD_repeat;UBD,SH3|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0965--Cell junction
KW-0966--Cell projection
KW-1186--Ciliopathy
KW-0969--Cilium
KW-0970--Cilium biogenesis/degradation
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0221--Differentiation
KW-0225--Disease mutation
KW-0979--Joubert syndrome
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0728--SH3 domain
KW-0853--WD repeat
Interpro

IPR001452--SH3_domain
IPR015943--WD40/YVTN_repeat-like_dom
IPR001680--WD40_repeat
IPR017986--WD40_repeat_dom
PROSITE

PS50002--SH3
PS50082--WD_REPEATS_2
PS50294--WD_REPEATS_REGION
Pfam

PF00018--SH3_1
PF00400--WD40
PRINTS

PR00452--SH3DOMAIN
SMART

SM00326--SH3
SM00320--WD40
Gene Ontology

GO:0005912--C:adherens junction
GO:0005911--C:cell-cell junction
GO:0005814--C:centriole
GO:0005813--C:centrosome
GO:0036064--C:ciliary basal body
GO:0005929--C:cilium
GO:0005829--C:cytosol
GO:0036038--C:MKS complex
GO:0097730--C:non-motile cilium
GO:0042802--F:identical protein binding
GO:0034613--P:cellular protein localization
GO:0007417--P:central nervous system development
GO:0097711--P:ciliary basal body docking
GO:0060271--P:cilium assembly
GO:0035844--P:cloaca development
GO:0001947--P:heart looping
GO:0030902--P:hindbrain development
GO:0070121--P:Kupffer's vesicle development
GO:0070986--P:left/right axis specification
GO:0001738--P:morphogenesis of a polarized epithelium
GO:0043066--P:negative regulation of apoptotic process
GO:0071599--P:otic vesicle development
GO:0035845--P:photoreceptor cell outer segment organization
GO:0030862--P:positive regulation of polarized epithelial cell differentiation
GO:0002092--P:positive regulation of receptor internalization
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0039023--P:pronephric duct morphogenesis
GO:0039008--P:pronephric nephron tubule morphogenesis
GO:0050795--P:regulation of behavior
GO:0010842--P:retina layer formation
GO:0065001--P:specification of axis polarity
GO:0007169--P:transmembrane receptor protein tyrosine kinase signaling pathway
GO:0016192--P:vesicle-mediated transport
KEGG hsa:54806
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001943 Ailuropoda melanoleuca 82.47 0.00e+00 1631.00
IUUC-Apl-004057 Anas platyrhynchos 50.26 0.00e+00 1051.00
IUUC-Aca-004306 Anolis carolinensis 53.80 0.00e+00 934.00
IUUC-Ame-010981 Astyanax mexicanus 54.77 0.00e+00 764.00
IUUC-Bta-013129 Bos taurus 82.27 0.00e+00 1815.00
IUUC-Cja-018979 Callithrix jacchus 89.30 0.00e+00 1768.00
IUUC-Cfa-020121 Canis familiaris 82.43 0.00e+00 1858.00
IUUC-Cpo-022219 Cavia porcellus 80.23 0.00e+00 1334.00
IUUC-Csa-023991 Chlorocebus sabaeus 93.34 0.00e+00 2160.00
IUUC-Cho-024782 Choloepus hoffmanni 76.25 0.00e+00 936.00
IUUC-Cin-025149 Ciona intestinalis 39.07 6.00e-167 581.00
IUUC-Csv-026188 Ciona savignyi 38.99 9.00e-124 437.00
IUUC-Dre-028737 Danio rerio 49.60 0.00e+00 848.00
IUUC-Dno-029756 Dasypus novemcinctus 80.28 0.00e+00 1736.00
IUUC-Dor-030821 Dipodomys ordii 70.10 0.00e+00 1510.00
IUUC-Ete-032237 Echinops telfairi 74.25 0.00e+00 1564.00
IUUC-Eca-033491 Equus caballus 81.73 0.00e+00 1874.00
IUUC-Eeu-034812 Erinaceus europaeus 73.83 0.00e+00 951.00
IUUC-Fca-035868 Felis catus 82.09 0.00e+00 1800.00
IUUC-Fal-037571 Ficedula albicollis 55.09 0.00e+00 779.00
IUUC-Gmo-039358 Gadus morhua 49.55 0.00e+00 776.00
IUUC-Gga-040233 Gallus gallus 53.66 0.00e+00 968.00
IUUC-Gac-041744 Gasterosteus aculeatus 48.64 0.00e+00 795.00
IUUC-Ggo-044766 Gorilla gorilla 97.74 0.00e+00 2270.00
IUUC-Itr-048282 Ictidomys tridecemlineatus 85.37 0.00e+00 1944.00
IUUC-Loc-052658 Lepisosteus oculatus 50.57 0.00e+00 914.00
IUUC-Laf-053564 Loxodonta africana 85.40 0.00e+00 1437.00
IUUC-Mcc-055480 Macaca mulatta 93.09 0.00e+00 2166.00
IUUC-Meu-056362 Macropus eugenii 53.88 0.00e+00 866.00
IUUC-Mga-060033 Meleagris gallopavo 51.55 0.00e+00 1082.00
IUUC-Mmr-061075 Microcebus murinus 83.84 0.00e+00 1943.00
IUUC-Mdo-062818 Monodelphis domestica 53.44 0.00e+00 1169.00
IUUC-Mmu-063987 Mus musculus 78.73 0.00e+00 1608.00
IUUC-Mpu-066242 Mustela putorius furo 79.04 0.00e+00 1747.00
IUUC-Mlu-067123 Myotis lucifugus 77.41 0.00e+00 1675.00
IUUC-Nle-069793 Nomascus leucogenys 96.49 0.00e+00 2256.00
IUUC-Opr-071110 Ochotona princeps 74.93 0.00e+00 866.00
IUUC-Ont-072179 Oreochromis niloticus 48.08 0.00e+00 812.00
IUUC-Oan-073201 Ornithorhynchus anatinus 63.45 1.00e-134 472.00
IUUC-Ocu-074224 Oryctolagus cuniculus 83.51 0.00e+00 1971.00
IUUC-Ola-086818 Oryzias latipes 51.39 3.00e-71 261.00
IUUC-Oga-088338 Otolemur garnettii 85.78 0.00e+00 1805.00
IUUC-Oar-089247 Ovis aries 79.22 0.00e+00 1834.00
IUUC-Ptr-090830 Pan troglodytes 98.45 0.00e+00 2221.00
IUUC-Pan-092469 Papio anubis 94.48 0.00e+00 2213.00
IUUC-Psi-093183 Pelodiscus sinensis 51.43 0.00e+00 1040.00
IUUC-Pma-094415 Petromyzon marinus 46.71 2.00e-157 549.00
IUUC-Pfo-096577 Poecilia formosa 45.60 0.00e+00 789.00
IUUC-Pab-098236 Pongo abelii 96.43 0.00e+00 1897.00
IUUC-Pca-100560 Procavia capensis 66.14 0.00e+00 1426.00
IUUC-Pva-102565 Pteropus vampyrus 69.01 0.00e+00 1508.00
IUUC-Rno-104881 Rattus norvegicus 77.81 0.00e+00 1622.00
IUUC-Sha-106577 Sarcophilus harrisii 65.48 3.00e-163 568.00
IUUC-Sar-113265 Sorex araneus 70.31 0.00e+00 1500.00
IUUC-Ssc-116174 Sus scrofa 80.90 0.00e+00 1814.00
IUUC-Tgu-116618 Taeniopygia guttata 47.81 0.00e+00 876.00
IUUC-Tru-117761 Takifugu rubripes 43.07 0.00e+00 681.00
IUUC-Tsy-119557 Tarsius syrichta 78.04 0.00e+00 931.00
IUUC-Tni-119782 Tetraodon nigroviridis 50.13 0.00e+00 805.00
IUUC-Tbe-127529 Tupaia belangeri 73.77 2.00e-154 540.00
IUUC-Ttr-128444 Tursiops truncatus 77.78 0.00e+00 1777.00
IUUC-Vpa-130337 Vicugna pacos 72.51 0.00e+00 1581.00
IUUC-Xtr-132055 Xenopus tropicalis 56.52 0.00e+00 729.00
Created Date 25-Jun-2017

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