Aliases for AHI1 Gene
Aliases for AHI1 Gene
External Ids for AHI1 Gene
- HGNC: 21575
- Entrez Gene: 54806
- Ensembl: ENSG00000135541
- OMIM: 608894
- UniProtKB: Q8N157
Previous GeneCards Identifiers for AHI1 Gene
- GC06M135540
- GC06M135585
- GC06M135646
- GC06M133169
Summaries for AHI1 Gene
-
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]
GeneCards Summary for AHI1 Gene
AHI1 (Abelson Helper Integration Site 1) is a Protein Coding gene. Diseases associated with AHI1 include Joubert Syndrome 3 and Joubert Syndrome With Ocular Anomalies. Among its related pathways are Ectoderm Differentiation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is WDR44.
UniProtKB/Swiss-Prot for AHI1 Gene
-
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.
Additional gene information for AHI1 Gene
- Monarch Initiative
- Search for AHI1 at DataMed
- Search for AHI1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHI1 Gene
Genomics for AHI1 Gene
GeneHancer (GH) Regulatory Elements for AHI1 Gene
Promoters and enhancers for AHI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AHI1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for AHI1 Gene
Genomic Locations for AHI1 Gene
- chr6:135,283,532-135,497,776
- (GRCh38/hg38)
- Size:
- 214,245 bases
- Orientation:
- Minus strand
- chr6:135,604,670-135,818,914
- (GRCh37/hg19)
Genomic View for AHI1 Gene
Genes around AHI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q23.3 by Ensembl
- 6q23.3 by Entrez Gene
- 6q23.3 by HGNC
AHI1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AHI1 Gene
Proteins for AHI1 Gene
-
Protein details for AHI1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N157-AHI1_HUMAN
- Recommended name:
- Jouberin
- Protein Accession:
- Q8N157
- E1P584
- Q4FD35
- Q504T3
- Q5TCP9
- Q6P098
- Q6PIT6
- Q8NDX0
- Q9H0H2
Protein attributes for AHI1 Gene
- Size:
- 1196 amino acids
- Molecular mass:
- 137115 Da
- Quaternary structure:
-
- Self-associates (PubMed:23532844). Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI1(2):NPHP1(2) heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI1(2):HAP1(2) heterotetramers. Interacts with RAB8A (By similarity). Interacts with CEND1 (By similarity).
- SequenceCaution:
-
- Sequence=AAH29417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH65712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAI20201.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20387.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22523.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for AHI1 Gene
Post-translational modifications for AHI1 Gene
Other Protein References for AHI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AHI1
- Novus Biologicals Antibodies for AHI1
-
Abcam antibodies for AHI1
- Invitrogen Antibodies for AHI1
- GeneTex AHI1 antibody for AHI1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AHI1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AHI1
- Origene Custom Protein Services for AHI1
- antibodies-online: Search results for 3 available AHI1 Proteins ranked by validation data
- Compare Top AHI1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for AHI1
-
Abcam proteins for AHI1
Assay Products
- antibodies-online: Search results for 3 available AHI1 Elisa Kits ranked by validation data
- Compare Top AHI1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for AHI1 Gene
Domains & Families for AHI1 Gene
Gene Families for AHI1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for AHI1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AHI1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for AHI1 Gene
Function for AHI1 Gene
Molecular function for AHI1 Gene
- UniProtKB/Swiss-Prot Function:
- 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.
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for AHI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18633336 |
| GO:0042802 | identical protein binding | IPI | 23532844 |
Phenotypes for AHI1 Gene
- MGI mutant phenotypes for AHI1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for AHI1:
Animal Model Products
-
Taconic Biosciences Mouse Models for AHI1
- Cyagen custom Knockout/knockin (KOKI) mouse models for AHI1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AHI1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AHI1 gene
- Search ViGene Biosciences for AHI1
CRISPR Products
-
OriGene CRISPR knockouts for AHI1
- genomics-online: gRNA clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for AHI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AHI1
- GenScript: Design CRISPR guide RNA sequences for AHI1
miRNA for AHI1 Gene
- miRTarBase miRNAs that target AHI1
-
- hsa-mir-148b-3p (MIRT019485)
- hsa-mir-218-5p (MIRT024212)
- hsa-mir-619-5p (MIRT515167)
- hsa-mir-7151-3p (MIRT515168)
- hsa-mir-5095 (MIRT515169)
- hsa-mir-6778-3p (MIRT515170)
- hsa-mir-150-5p (MIRT515171)
- hsa-mir-6814-5p (MIRT515172)
- hsa-mir-4761-5p (MIRT515173)
- hsa-mir-6504-3p (MIRT515174)
- hsa-mir-3159 (MIRT515175)
- hsa-mir-4735-3p (MIRT515176)
- hsa-mir-4438 (MIRT515177)
- hsa-mir-18b-5p (MIRT515178)
- hsa-mir-18a-5p (MIRT515179)
- hsa-mir-331-5p (MIRT550272)
- hsa-mir-636 (MIRT550273)
- hsa-mir-3618 (MIRT550274)
- hsa-mir-4720-3p (MIRT550275)
- hsa-mir-4804-3p (MIRT550276)
- hsa-mir-1283 (MIRT550277)
- hsa-mir-455-5p (MIRT550278)
- hsa-mir-4678 (MIRT550279)
- hsa-mir-4517 (MIRT550280)
miRNA Products
- Search ViGene Biosciences for AHI1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for AHI1
- Browse OriGene Inhibitory RNA Products For AHI1
- genomics-online: shRNA clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for AHI1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for AHI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AHI1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AHI1
- genomics-online: cdna clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
- orf clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
- Applied Biological Materials Clones for AHI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AHI1
-
ViGene Biosciences adenoviral particle packaged cDNA for AHI1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AHI1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AHI1 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AHI1 Gene
Localization for AHI1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AHI1 Gene
- Cytoplasm, cytoskeleton, cilium basal body. Cell junction, adherens junction. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 1 |
- Centrosome (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IDA | 18633336 |
| GO:0005814 | centriole | ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for AHI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Organelle biogenesis and maintenance |
.56
|
|
| 2 | Regulation of PLK1 Activity at G2/M Transition | ||
| 3 | Ectoderm Differentiation | ||
Pathways by source for AHI1 Gene
1 BioSystems pathway for AHI1 Gene
3 Reactome pathways for AHI1 Gene
Interacting Proteins for AHI1 Gene
Selected Interacting proteins:
ENSP00000265602
Q8N157-AHI1_HUMAN
for AHI1 Gene via
STRING
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for AHI1 Gene
Transcripts for AHI1 Gene
mRNA/cDNA for AHI1 Gene
- (16) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (174) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AHI1 Gene
- Abelson helper integration site 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for AHI1
- genomics-online: gRNA clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
- Applied Biological Materials CRISPR for AHI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AHI1
- GenScript: Design CRISPR guide RNA sequences for AHI1
miRNA Products
- Search ViGene Biosciences for AHI1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for AHI1
- Browse OriGene Inhibitory RNA Products For AHI1
- genomics-online: shRNA clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for AHI1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for AHI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AHI1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AHI1
- genomics-online: cdna clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
- orf clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
- Applied Biological Materials Clones for AHI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27a | · | 27b | · | 27c | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | · | 31c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||
| SP8: |
Expression for AHI1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for AHI1 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.1).
This gene is overexpressed in Heart (54.5) and Liver (14.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AHI1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AHI1 Gene:
AHI1SOURCE GeneReport for Unigene cluster for AHI1 Gene:
Hs.386684mRNA Expression by UniProt/SwissProt for AHI1 Gene:
Q8N157-AHI1_HUMAN
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).
Evidence on tissue expression from TISSUES for AHI1 Gene
- Intestine(4.2)
- Bone marrow(4.1)
- Nervous system(3)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AHI1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- outer ear
- skull
- tongue
- tooth
Thorax:
- diaphragm
- heart
- lung
Abdomen:
- biliary tract
- kidney
- liver
Pelvis:
- penis
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for AHI1
- genomics-online: primer clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
-
Recommended
Gene Expression Assay Products
Orthologs for AHI1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AHI1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | AHI1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | AHI1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ahi1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ahi1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AHI1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | AHI1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AHI1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AHI1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ahi1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ahi1 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DGR2 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for AHI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for AHI1 Gene
(5) SIMAP similar genes for AHI1 Gene using alignment to 9 proteins:
Variants for AHI1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1052502 | benign, Joubert syndrome | 135,285,427(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1054190332 | uncertain-significance, Joubert syndrome | 135,285,577(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs113052089 | likely-benign, Joubert syndrome | 135,497,680(-) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs113317693 | likely-benign, benign, not provided, not specified, Joubert syndrome | 135,455,937(-) | A/C | intron_variant | |
| rs115338154 | conflicting-interpretations-of-pathogenicity, benign, not specified, Joubert syndrome | 135,290,432(-) | A/G | 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2662853 | CNV | deletion | 23128226 |
| esv2669758 | CNV | deletion | 23128226 |
| esv3393967 | CNV | insertion | 20981092 |
| esv3394008 | CNV | insertion | 20981092 |
| esv3396858 | CNV | insertion | 20981092 |
| esv3571413 | CNV | loss | 25503493 |
| esv3571414 | CNV | loss | 25503493 |
| esv3610893 | CNV | loss | 21293372 |
| esv3610895 | CNV | loss | 21293372 |
| esv3610896 | CNV | loss | 21293372 |
| nsv1022062 | CNV | loss | 25217958 |
| nsv1034621 | CNV | gain | 25217958 |
| nsv519167 | CNV | loss | 19592680 |
| nsv521009 | CNV | loss | 19592680 |
| nsv521884 | CNV | loss | 19592680 |
| nsv950513 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.94;
67.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AHI1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHI1 Gene
Disorders for AHI1 Gene
(15) MalaCards diseases for AHI1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 3 |
|
|
| joubert syndrome with ocular anomalies |
|
|
| joubert syndrome 1 |
|
|
| leber congenital amaurosis |
|
|
| retinitis pigmentosa |
|
|
Search AHI1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AHI1_HUMAN- 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. {ECO:0000269 PubMed:15322546, ECO:0000269 PubMed:15467982, ECO:0000269 PubMed:16155189, ECO:0000269 PubMed:16453322, ECO:0000269 PubMed:23532844}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for AHI1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AHI1 Gene
Publications for AHI1 Gene
- A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. (PMID: 20071346) Ingason A … Rujescu D (Human molecular genetics 2010) 3 22 44 58
- Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PMID: 18633336) Eley L … Sayer JA (Kidney international 2008) 3 4 22 58
- Association of common variants in the Joubert syndrome gene (AHI1) with autism. (PMID: 18782849) Alvarez Retuerto AI … Geschwind DH (Human molecular genetics 2008) 3 22 44 58
- High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. (PMID: 17409309) Tory K … Saunier S (Journal of the American Society of Nephrology : JASN 2007) 3 22 44 58
- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. (PMID: 16155189) Parisi MA … Glass IA (Journal of medical genetics 2006) 3 4 22 58
Products for AHI1 Gene
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- Custom Antibody ServicesOriGene Antibodies for AHI1
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- Abcam antibodies for AHI1
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- Taconic Biosciences Mouse Models for AHI1
- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- Invitrogen Antibodies for AHI1
- Cyagen custom Knockout/knockin (KOKI) mouse models for AHI1
- VectorBuilder custom plasmid, inducible vectors for AHI1
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for AHI1
- antibodies-online: Search results for 54 available AHI1 Antibodies ranked by validation data
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- antibodies-online: Search results for 3 available AHI1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 3 available AHI1 Proteins ranked by validation data
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- Quality Products:
- GeneTex AHI1 antibody for AHI1
- Search GeneTex for Proteins for AHI1
- ViGene Biosciences adenoviral particle packaged cDNA for AHI1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for AHI1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AHI1 gene
- Search ViGene Biosciences for AHI1
- Santa Cruz Biotechnology (SCBT) Antibodies for AHI1
- Search Santa Cruz Biotechnology (SCBT) for AHI1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AHI1
- Horizon Cell Lines for AHI1
- genomics-online: cdna clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
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- orf clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
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- genomics-online: gRNA clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
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- genomics-online: primer clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
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- genomics-online: shRNA clones - Search results for 102 available AHI1 gene related products
- Overview of 102 available AHI1 gene related products
- Recommended
Sources for AHI1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
