AAH29417.1; AAH65712.1; AAH94800.1; AJ459824;GenBank ID:
AJ459825; AJ606362; AK092262; AL023693;GenBank ID:
AL049552; AL133544; AL136797; BAC03840.1;GenBank ID:
BC029417; BC065712; BC094800; CAB66731.1;GenBank ID:
CAD30871.1; CAD30872.1; CAE54481.1; CAI20201.1;GenBank ID:
CAI20387.1; CAI22523.1; CH471051; EAW47962.1;GenBank ID:
Full=Abelson helper integration site 1 protein homolog;
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 (By similarity).SUBUNIT:
Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 (By similarity). Interacts with NPHP1. Interacts (via SH3 domain) with the dynamin GTPase DNM2.INTERACTION:
P50570:DNM2; NbExp=2; IntAct=EBI-1049056, EBI-346547; SUBCELLULAR LOCATION:
Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell junction, adherens junction.
ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N157-1; Sequence=Displayed; Name=2; IsoId=Q8N157-2; Sequence=VSP_015355, VSP_015356; Name=3; IsoId=Q8N157-3; Sequence=VSP_015353, VSP_015354; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; TISSUE SPECIFICITY:
Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).INDUCTION:
Down-regulated during early differentiation of normal hematopoietic cells. Up-regulated in leukemic cells at all stages of differentiation from patients with chronic myeloid leukemia.DISEASE:
Joubert syndrome 3 (JBTS3) [MIM:608629]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.
Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry.
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 7 WD repeats.SEQUENCE CAUTION:
Sequence=AAH29417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH65712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAI20201.1; Type=Erroneous gene model prediction; Sequence=CAI20387.1; Type=Erroneous gene model prediction; Sequence=CAI22523.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AHI1[genesymbol]"; GO annotation:
GO:0005912; C:adherens junction; IDA:UniProtKB.
GO:0005911; C:cell-cell junction; IDA:UniProtKB.
GO:0005814; C:centriole; ISS:UniProtKB.
GO:0005813; C:centrosome; IDA:UniProtKB.
GO:0036064; C:ciliary basal body; IDA:UniProtKB.
GO:0005929; C:cilium; ISS:UniProtKB.
GO:0031513; C:nonmotile primary cilium; ISS:UniProtKB.
GO:0001750; C:photoreceptor outer segment; IEA:Ensembl.
GO:0072372; C:primary cilium; IDA:UniProtKB.
GO:0036038; C:TCTN-B9D complex; ISS:UniProtKB.
GO:0034613; P:cellular protein localization; ISS:UniProtKB.
GO:0007417; P:central nervous system development; ISS:UniProtKB.
GO:0042384; P:cilium assembly; ISS:UniProtKB.
GO:0060271; P:cilium morphogenesis; ISS:UniProtKB.
GO:0035844; P:cloaca development; ISS:UniProtKB.
GO:0001947; P:heart looping; ISS:UniProtKB.
GO:0030902; P:hindbrain development; ISS:UniProtKB.
GO:0070121; P:Kupffer's vesicle development; ISS:UniProtKB.
GO:0070986; P:left/right axis specification; ISS:UniProtKB.
GO:0001738; P:morphogenesis of a polarized epithelium; ISS:UniProtKB.
GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
GO:0071599; P:otic vesicle development; ISS:UniProtKB.
GO:0035845; P:photoreceptor cell outer segment organization; ISS:UniProtKB.
GO:0030862; P:positive regulation of polarized epithelial cell differentiation; ISS:UniProtKB.
GO:0002092; P:positive regulation of receptor internalization; ISS:UniProtKB.
GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; ISS:UniProtKB.
GO:0039023; P:pronephric duct morphogenesis; ISS:UniProtKB.
GO:0039008; P:pronephric nephron tubule morphogenesis; ISS:UniProtKB.
GO:0033365; P:protein localization to organelle; IEA:Ensembl.
GO:0050795; P:regulation of behavior; ISS:UniProtKB.
GO:0010842; P:retina layer formation; ISS:UniProtKB.
GO:0065001; P:specification of axis polarity; ISS:UniProtKB.
GO:0007169; P:transmembrane receptor protein tyrosine kinase signaling pathway; ISS:UniProtKB.
GO:0006903; P:vesicle targeting; IEA:Ensembl.
GO:0016192; P:vesicle-mediated transport; ISS:UniProtKB.Other predictions:
InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
InterPro; IPR001680; WD40_repeat.
InterPro; IPR017986; WD40_repeat_dom.
SMART; SM00320; WD40; 6.Experimental info:
VARIANT 49 49 I -> N. /FTId=VAR_037892.
VARIANT 443 443 V -> D (in JBTS3). /FTId=VAR_023391.
VARIANT 548 548 R -> H (in dbSNP:rs35433555). /FTId=VAR_037893.
VARIANT 723 723 R -> Q (in JBTS3). /FTId=VAR_037894.
VARIANT 761 761 S -> L. /FTId=VAR_037895.
VARIANT 830 830 R -> W (in dbSNP:rs13312995). /FTId=VAR_037896.
VARIANT 856 856 T -> S (in dbSNP:rs199736888). /FTId=VAR_037897.
VARIANT 933 933 Y -> C (in dbSNP:rs41288013). /FTId=VAR_037898.
VARIANT 1018 1018 Q -> P (in dbSNP:rs6940875). /FTId=VAR_037899.
VARIANT 1086 1086 E -> G (in JBTS3; dbSNP:rs148000791). /FTId=VAR_068171.
VARIANT 1123 1123 S -> F (in dbSNP:rs117447608). /FTId=VAR_037900.
VARIANT 1140 1140 P -> S. /FTId=VAR_037901.