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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 i... See more...
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 1. Among its related pathways are Organelle biogenesis and maintenance and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is WDR62.
UniProtKB/Swiss-Prot Summary 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. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).
Additional gene information for AHI1 Gene
- HGNC(21575)
- Entrez Gene(54806)
- Ensembl(ENSG00000135541)
- OMIM(608894)
- UniProtKB(Q8N157)
- Open Targets Platform(ENSG00000135541)
- Monarch Initiative
- Search for AHI1 at DataMed
- Search for AHI1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHI1 Gene
Genomics for AHI1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AHI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AHI1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHI1
- Top Transcription factor binding sites by QIAGEN in the AHI1 gene promoter:
-
- Evi-1
- Nkx2-5
- POU2F1
- POU2F1a
- RFX1
- RSRFC4
Genomic Locations for AHI1 Gene
Genomic Locations for AHI1 Gene
- chr6:135,283,532-135,497,771
- (GRCh38/hg38)
- Size:
- 214,240 bases
- Orientation:
- Minus strand
- chr6:135,604,670-135,818,914
- (GRCh37/hg19)
- Size:
- 214,245 bases
- Orientation:
- Minus strand
Genomic View for AHI1 Gene
Genes around AHI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q23.3 by HGNC
- 6q23.3 by Entrez Gene
- 6q23.3 by Ensembl
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). Interacts with CTNNB1/beta-catenin (PubMed:21623382). Interacts with SPATA7 (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};
- Miscellaneous:
-
- [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for AHI1 Gene
Post-translational modifications for AHI1 Gene
Other Protein References for AHI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences AHI1 Antibody (LS-B11009) and AHI1 Antibody (LS-B15083)
- GeneTex Anti-AHI1 antibody [N1N2], N-term and Anti-AHI1 antibody
- Creative Biolabs Mouse Anti-AHI1 Recombinant Antibody (B-2)
-
Custom Antibody ServicesOriGene Antibodies for AHI1
- Novus Biologicals Antibodies for AHI1
-
Abcam antibodies for AHI1
- Invitrogen Antibodies for AHI1 (AFLGC-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: Show 3 available AHI1 Proteins ranked by validation data
- Compare Top AHI1 Proteins
-
Quality Products:
-
Signalway Proteins for AHI1
-
Abcam proteins for AHI1
Assay Products
- Creative Diagnostics Human AHI1 ELISA Matched Antibody Pair
- antibodies-online: Show 6 available AHI1 Elisa Kits ranked by validation data
- Compare Top AHI1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for AHI1
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:
-
- SH3 domain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for AHI1 Gene
- GenScript: Design optimal peptide antigens:
-
- Abelson helper integration site 1 protein homolog (AHI1_HUMAN)
- AHI1 (Q4FD35_HUMAN)
- Ahi-1 isoform I (Q8NER0_HUMAN)
No data available for Graphical View of Domain Structure and 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. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).
- 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 Models for AHI1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for AHI1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AHI1 - Select products 50% OFF >
- * AHI1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AHI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AHI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AHI1
miRNA for AHI1 Gene
- miRTarBase miRNAs that target AHI1
-
- mmu-miR-15a-5p (MIRT011963)
- mmu-miR-181a-5p (MIRT014369)
- mmu-miR-136-5p (MIRT015025)
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AHI1
- Browse OriGene Inhibitory RNA Products For AHI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHI1
Clone Products
- Applied Biological Materials (abm): Clones for AHI1 - Select products 50% OFF >
- * AHI1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211435
- MG219438
- MG224731
- MR211435
- MR211435L3
- MR211435L4
- MR219438
- MR219438L3
- MR219438L4
- MR224731
- MR224731L3
- MR224731L4
- RC224649
- RC224649L3
- RC224649L4
- RC226311
- RC226311L3
- RC226311L4
- RC226357
- RC226357L3
- RC226357L4
- RC226358
- RC226358L3
- RC226358L4
- RG224649
- RG226311
- RG226357
- RG226358
- RR215028
- RR215028L3
- RR215028L4
- MR211435L3V
- MR211435L4V
- MR219438L3V
- MR219438L4V
- MR224731L3V
- MR224731L4V
- RC224649L3V
- RC224649L4V
- RC226311L3V
- RC226311L4V
- RC226357L3V
- RC226357L4V
- RC226358L3V
- RC226358L4V
- RR215028L3V
- RR215028L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AHI1
- Addgene plasmids for AHI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AHI1
Cell Line Products
-
Horizon Cell Lines for AHI1
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. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium. {ECO:0000250 UniProtKB:Q8K3E5}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 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:
Q8N157-AHI1_HUMAN
ENSP00000356774
for AHI1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for AHI1
| 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:0007275 | multicellular organism development | IEA | -- |
No data available for SIGNOR curated interactions for AHI1 Gene
Transcripts for AHI1 Gene
mRNA/cDNA for AHI1 Gene
- 6 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367800 5921 nts (view in UCSC)
- ENST00000457866 5549 nts (view in UCSC)
- ENST00000475846 2920 nts (view in UCSC)
- ENST00000498558 900 nts (view in UCSC)
- ENST00000367799 2340 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AHI1 - Select products 50% OFF >
- * AHI1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AHI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AHI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AHI1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AHI1
- Browse OriGene Inhibitory RNA Products For AHI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHI1
Clone Products
- Applied Biological Materials (abm): Clones for AHI1 - Select products 50% OFF >
- * AHI1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211435
- MG219438
- MG224731
- MR211435
- MR211435L3
- MR211435L4
- MR219438
- MR219438L3
- MR219438L4
- MR224731
- MR224731L3
- MR224731L4
- RC224649
- RC224649L3
- RC224649L4
- RC226311
- RC226311L3
- RC226311L4
- RC226357
- RC226357L3
- RC226357L4
- RC226358
- RC226358L3
- RC226358L4
- RG224649
- RG226311
- RG226357
- RG226358
- RR215028
- RR215028L3
- RR215028L4
- MR211435L3V
- MR211435L4V
- MR219438L3V
- MR219438L4V
- MR224731L3V
- MR224731L4V
- RC224649L3V
- RC224649L4V
- RC226311L3V
- RC226311L4V
- RC226357L3V
- RC226357L4V
- RC226358L3V
- RC226358L4V
- RR215028L3V
- RR215028L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AHI1
- Addgene plasmids for AHI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AHI1
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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: |
Relevant External Links for AHI1 Gene
- GeneLoc Exon Structure for
- AHI1
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 and MOPED for AHI1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHI1
SOURCE 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(4.3)
- Bone marrow(4.3)
- Nervous system(3.3)
- Kidney(2.7)
- Eye(2.4)
- Heart(2.1)
- Skin(2.1)
- Lung(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
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AHI1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AHI1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ahi1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ahi1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AHI1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AHI1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AHI1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AHI1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ahi1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ahi1 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DGR2 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for AHI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
Evolution for AHI1 Gene
- ENSEMBL:
- Gene Tree for AHI1 (if available)
- TreeFam:
- Gene Tree for AHI1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AHI1: view image
Paralogs for AHI1 Gene
Paralogs for AHI1 Gene
(5) SIMAP similar genes for AHI1 Gene using alignment to 9 proteins:
- AHI1_HUMAN
- E9PI51_HUMAN
- E9PML3_HUMAN
- G8JLN6_HUMAN
- H0Y343_HUMAN
- H0YDL1_HUMAN
- H0YE01_HUMAN
- H0YEF1_HUMAN
- Q9NQN3_HUMAN
Variants for AHI1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHI1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 438231 | Likely Pathogenic: Abnormality of the eye | 135,437,868(-) | TAAATTGAAAAGGGAT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 635321 | Uncertain Significance: Joubert syndrome 3 | 135,427,186(-) | CAGA/C | INFRAME_DELETION | |
| 638504 | Pathogenic: Joubert syndrome 1; Joubert syndrome 3 | 135,428,628(-) | C/A | SPLICE_DONOR_VARIANT | |
| 640041 | Uncertain Significance: Joubert syndrome | 135,431,246(-) | C/T | MISSENSE_VARIANT | |
| 645894 | Uncertain Significance: Joubert syndrome | 135,323,284(-) | T/C | MISSENSE_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
(53) MalaCards diseases for AHI1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 3 |
|
|
| joubert syndrome 1 |
|
|
| inherited retinal disorder |
|
|
| retinitis pigmentosa |
|
|
| leber plus disease |
|
|
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:21623382, 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
- Open Targets Platform
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 23 41
- Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PMID: 18633336) Eley L … Sayer JA (Kidney international 2008) 3 4 23
- Association of common variants in the Joubert syndrome gene (AHI1) with autism. (PMID: 18782849) Alvarez Retuerto AI … Geschwind DH (Human molecular genetics 2008) 3 23 41
- 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 23 41
- AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (PMID: 16453322) Valente EM … International JSRD Study Group (Annals of neurology 2006) 3 4 23
ExternalLinks
Products for AHI1 Gene
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Sources for AHI1 Gene
- (1) GeneCards
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