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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AHI1 Gene

protein-coding GIFtS: 53
GCID: GC06M135646

Abelson helper integration site 1

(Previous name: Abelson helper integration site )

Explore 23 diseases affiliated with
AHI1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Abelson Helper Integration Site 1¹ ²		FLJ20069¹
JBTS3¹ ²		Abelson Helper Integration Site¹
ORF1¹ ²		Contatins SH3 And WD40 Domains²
Abelson Helper Integration Site 1 Protein Homolog² ³		DJ71N10.1¹
AHI-1² ³		Jouberin¹

External Ids:	HGNC: 21575¹	Entrez Gene: 54806²	Ensembl: ENSG00000135541⁷	OMIM: 608894⁵	UniProtKB: Q8N157³

Export aliases for AHI1 gene to outside databases

Previous GC identifers: GC06M135540 GC06M135585 GC06M133169

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AHI1:

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause

specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental

brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding

different isoforms have been identified. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157

Function: 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)

Gene Wiki entry for AHI1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AHI1 gene promoter:
RFX1 POU2F1 POU2F1a Nkx2-5 Evi-1 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AHI1 promoter sequence

Search SABiosciences Chromatin IP Primers for AHI1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHI1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q23.3 Ensembl cytogenetic band: 6q23.3 HGNC cytogenetic band: 6q23.2

AHI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHI1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M135646: view genomic region (about GC identifiers)

Start:	135,604,670 bp from pter	End:	135,818,914 bp from pter
Size:	214,245 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157 (See protein sequence)

Recommended Name: Jouberin

Size: 1196 amino acids; 137115 Da

Subunit: Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 (By similarity). Interacts with

NPHP1

Subcellular location: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell junction, adherens junction

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;

1 PDB 3D structure from and Proteopedia for AHI1:

4ESR (3D)

Secondary accessions: E1P584 Q504T3 Q5TCP9 Q6P098 Q6PIT6 Q8NDX0 Q9H0H2

Alternative splicing: 3 isoforms: Q8N157-1 Q8N157-2 Q8N157-3 (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)

Explore the universe of human proteins at neXtProt for AHI1: NX_Q8N157

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N157

AHI1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001128302.1 NP_001128303.1 NP_001128304.1 NP_060121.3

ENSEMBL proteins:

ENSP00000356774 ENSP00000388650 ENSP00000435710 ENSP00000356773 ENSP00000433864

ENSP00000265602 ENSP00000432167 ENSP00000322478 ENSP00000434697 ENSP00000433063

ENSP00000433017 ENSP00000436071 ENSP00000436516 ENSP00000416867 ENSP00000356772

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	Uscn Proteins for AHI1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005813	centrosome	IDA	18633336
GO:0005814	centriole	ISS	--
GO:0005911	cell-cell junction	IDA	18633336
GO:0005912	adherens junction	IDA	18633336
GO:0005929	cilium	ISS	--

AHI1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AHI1 for domains About GeneDecksing

4 InterPro domains/families:

IPR001680 WD40_repeat

IPR001452 SH3_domain

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q8N157

ProtoNet protein and cluster: Q8N157

1 Blocks protein family: IPB001452 SH3 domain signature

UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157

Similarity: Contains 1 SH3 domain

Similarity: Contains 7 WD repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157

Function: 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)

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

miRNA Products:		OriGene 3'-UTR Clone (see all 4): AHI1 Browse MicroRNA Expression Plasmids
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		hsa-miR-4263 hsa-miR-1285 hsa-miR-29a* hsa-miR-23a hsa-miR-3170 hsa-miR-365 hsa-miR-576-5p hsa-miR-1283

		SwitchGear 3'UTR luciferase reporter plasmid: AHI1 3' UTR sequence

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--

AHI1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Ahi1^tm1Jgg for AHI1
     10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ahi1):

behavior/neurological	cellular	growth/size	homeostasis/metabolism	immune system
mortality/aging	nervous system	other	renal/urinary system	vision/eye

AHI1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AHI1

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/18 Interacting proteins for AHI1 (Q8N157^{1, 3} ENSP00000356774⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HAP1	P54257³, ENSP00000334002⁴	I2D: score=1 STRING: ENSP00000334002
SMYD2	Q9NRG4³, ENSP00000355924⁴	I2D: score=1 STRING: ENSP00000355924
DNM2	P50570¹, ENSP00000352721⁴	EBI-1049056,EBI-3959204 STRING: ENSP00000352721
CEP290	ENSP00000308021⁴	STRING: ENSP00000308021
TCTN2	ENSP00000304941⁴	STRING: ENSP00000304941

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001738	morphogenesis of a polarized epithelium	ISS	--
GO:0001947	heart looping	ISS	--
GO:0002092	positive regulation of receptor internalization	ISS	--
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	ISS	--
GO:0007417	central nervous system development	ISS	--

AHI1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AHI1
Search CenterWatch for drugs/clinical trials and news about AHI1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AHI1 gene (4 alternative transcripts):

NM_001134830.1 NM_001134831.1 NM_001134832.1 NM_017651.4

Unigene Cluster for AHI1:

Abelson helper integration site 1

Hs.386684 [show with all ESTs]

Unigene Representative Sequence: NM_001134831

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000367800(uc003qgf.3 uc003qgg.3) ENST00000457866(uc003qgi.3 uc003qgh.3 uc003qgj.3)

ENST00000475846 ENST00000498558 ENST00000367799 ENST00000527681 ENST00000265602

ENST00000487135 ENST00000533029 ENST00000531788(uc003qgk.4) ENST00000327035(uc003qgl.3)

ENST00000529865 ENST00000524469 ENST00000488690 ENST00000528103 ENST00000534469

ENST00000531527 ENST00000417892

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		hsa-miR-4263 hsa-miR-1285 hsa-miR-29a* hsa-miR-23a hsa-miR-3170 hsa-miR-365 hsa-miR-576-5p hsa-miR-1283

		SwitchGear 3'UTR luciferase reporter plasmid: AHI1 3' UTR sequence

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Additional cDNA sequence:

AJ459824.1 AJ459825.1 AJ606362.1 AK000076.1 AK024085.1 AK092262.1 AK128473.1 AK225210.1

AL136797.1 AY133243.1 BC015019.1 BC029417.2 BC039559.1 BC050607.1 BC065712.1 BX648311.1

DQ090887.1

16 DOTS entries:

DT.40128813 DT.100818200 DT.306757 DT.100818195 DT.40206814 DT.435291 DT.40128681 DT.121408749

DT.92324460 DT.100818197 DT.95310394 DT.97769235 DT.40129387 DT.92459625 DT.92459629 DT.40280473

24/174 AceView cDNA sequences (see all 174):

AA365731 AK128473 CN482166 CA843420 BC015019 AI084523 CB266025 NM_017651

AL043119 AW953992 AI915265 AI474181 BC050607 AA365541 AI671987 AX747438

AK000076 BC029417 AI915224 AA921945 CD243779 AA317505 AI201883 CB851373

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AHI1 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23a	·	23b	^	24a	·
SP1:																																											-				-
SP2:
SP3:
SP4:
SP5:

ExUns:	24b	^	25	^	26a	·	26b	^	27a	·	27b	·	27c	^	28	^	29	^	30	^	31a	·	31b	·	31c
SP1:					-				-						-
SP2:
SP3:									-						-				-
SP4:
SP5:															-				-

ECgene alternative splicing isoforms for AHI1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AHI1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See AHI1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AHI1

SOURCE GeneReport for Unigene cluster: Hs.386684

UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157

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)

SABiosciences Expression via Pathway-Focused PCR Array including AHI1:

Primary Cilia in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for AHI1 gene from 3/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AHI1¹	Abelson helper integration site 1	64.98(n) 53.81(a)		421693 XM_003640965.1 XP_003641013.1
lizard (Anolis carolinensis)	Reptilia	AHI1⁶	--	46(a)	1 ↔ 1	GL343200.1(2919536-2966722)
zebrafish (Danio rerio)	Actinopterygii	ahi1¹	Abelson helper integration site 1	55.98(n) 49.41(a)		562701 NM_001077561.1 NP_001071029.1

ENSEMBL Gene Tree for AHI1 (if available)
TreeFam Gene Tree for AHI1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AHI1 gene

WDR44²

6 SIMAP similar genes for AHI1 using alignment to 10 protein entries: AHI1_HUMAN (see all proteins):

GRAP2 ITSN2 ARHGEF7 SH3GL1 SH3GL2 GRAPL

AHI1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60991786^1,2	C,F,	--	133168537(+)	`ATTCAG/ATACTT`	3	--	ds500¹		3		WA	122
rs79374598^1,2	F,	--	133168837(+)	`TGCTAT/CTTTTC`	3	--	ds500¹		1		WA	118
rs58930280^1,2	C,F,	--	133168842(+)	`TTTTTC/GTCTTT`	3	--	ds500¹		3		WA	122
rs113719301^1,2	C,F,	--	133170893(+)	`TGTATC/TATTAG`	3	--	int¹		1		NA	120
rs74545046^1,2	C,F,	--	133171718(+)	`ATATAA/GAACAC`	3	--	int¹		1		WA	118
rs6904233^1,2	C,F,A,H,	--	133172336(+)	`ACTCGA/CAAAAT`	3	--	int¹		16		NS NA EA WA	898
rs11969162^1,2	C,F,H,	--	133173437(+)	`AGAAAC/AAACAC`	3	--	int¹		5		NS EA NA	540
rs62429854^1,2		--	133173535(+)	`TGCACA/CAAGTT`	3	--	int¹		0	--	--	--	--
rs9494210^1,2	F,	--	133173886(+)	`caaaaA/Caaaaa`	3	--	int¹ trp³		2		WA NA	238
rs73557661^1,2	C,F,	--	133174589(+)	`CCATCC/TCAGGT`	3	--	int¹		2		WA	4

HapMap Linkage Disequilibrium report for AHI1 (135604670 - 135818914 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for AHI1
4 CNVs: 94038 94039 81600 51807
1 Indel: 81601
Human Gene Mutation Database (HGMD): AHI1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AHI1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AHI1 for disorders           About GeneDecksing

OMIM gene information: 608894
OMIM disorders: 608629
UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157

Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) [MIM:608629]. JBTS is an autosomal recessive

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. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal

dysfunction

20/23 diseases for AHI1 (see all 23): About MalaCards

joubert syndrome joubert syndrome and related disorders was-related disorders oculomotor apraxia

senior-loken syndrome asphyxiating thoracic dystrophy apraxia fundus dystrophy

intellectual disability polymicrogyria cerebellar ataxia nephronophthisis

chronic myeloid leukemia myeloid leukemia cystic kidney bipolar disorder

polydactyly ataxia hypotonia leukemia

5 diseases from the University of Copenhagen DISEASES database for AHI1:

Nephronophthisis Fundus dystrophy Cystic kidney Anterior horn cell disease

Polydactyly

3 Novoseek disease relationships for AHI1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nphp1	96.5	20	17409309 (5), 18054307 (4), 17960139 (3), 16155189 (3) (see all 7)
mental retardation	60.4	1	16773125 (1)
renal disease	20.9	3	18054307 (2), 16155189 (1)

GeneTests: AHI1

Joubert Syndrome

Human Genome Epidemiology (HuGE) Navigator: AHI1 (13 documents)

Export disorders for AHI1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AHI1 gene, integrated from 9 sources (see all 57):
(articles sorted by number of sources associating them with AHI1)

Utopia: connect your pdf to the dynamic
world of online information

Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PubMed id 18633336)^{1, 2, 9} Eley L....Sayer J.A. (2008)
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. (PubMed id 15467982)^{1, 2, 9} Dixon-Salazar T....Gleeson J.G. (2004)
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (PubMed id 16240161)^{1, 3, 9} Utsch B....Hildebrandt F. (2006)
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (PubMed id 16453322)^{1, 2, 9} Valente E.M....Gleeson J.G. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. (PubMed id 15322546)^{1, 2} Ferland R.J.... Walsh C.A. (2004)
Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults. (PubMed id 15169551)^{1, 2} Close J.P....Thein S.L. (2004)
Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia. (PubMed id 14751929)^{1, 2} Jiang X.... Eaves C. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Homozygosity mapping of a third Joubert syndrome locus to 6q23. (PubMed id 15060101)^{1, 3} Lagier-Tourenne C....Koenig M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 54806	HGNC: 21575	AceView: AHI1	Ensembl:ENSG00000135541	euGenes: HUgn54806
ECgene: AHI1	H-InvDB: AHI1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AHI1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AHI1

Intellectual Property for AHI1 gene
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Patent Information for AHI1 gene:
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Licensable Technologies for AHI1 gene:

Weizmann Institute:

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