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Aliases for AIPL1 Gene

Aliases for AIPL1 Gene

  • Aryl Hydrocarbon Receptor Interacting Protein Like 1 2 3 5
  • AIPL2 3 4
  • Aryl Hydrocarbon Receptor-Interacting Protein-Like 1 2
  • Aryl Hydrocarbon Receptor Interacting Protein-Like 1 2
  • Aryl-Hydrocarbon-Interacting Protein-Like 1 3
  • LCA4 3

External Ids for AIPL1 Gene

Previous HGNC Symbols for AIPL1 Gene

  • LCA4

Previous GeneCards Identifiers for AIPL1 Gene

  • GC17M006718
  • GC17M007058
  • GC17M006272
  • GC17M006528
  • GC17M006268
  • GC17M006297

Summaries for AIPL1 Gene

Entrez Gene Summary for AIPL1 Gene

  • Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for AIPL1 Gene

AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1) is a Protein Coding gene. Diseases associated with AIPL1 include Leber Congenital Amaurosis 4 and Leber Congenital Amaurosis. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and farnesylated protein binding. An important paralog of this gene is AIP.

UniProtKB/Swiss-Prot for AIPL1 Gene

  • May be important in protein trafficking and/or protein folding and stabilization.

Gene Wiki entry for AIPL1 Gene

Additional gene information for AIPL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIPL1 Gene

Genomics for AIPL1 Gene

GeneHancer (GH) Regulatory Elements for AIPL1 Gene

Promoters and enhancers for AIPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I006436 Enhancer 0.6 ENCODE 550.8 -1.0 -957 0.1 CTCF ZNF654 SIN3A ZBTB8A RAD21 SMC3 ZNF143 ZNF444 AIPL1 GC17M006435 GC17M006436 C17orf49 PIMREG
GH17I006435 Promoter 0.5 EPDnew 550.8 +0.1 59 0.1 AIPL1 GC17M006435 GC17M006436 ENSG00000262818
GH17I006471 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -36.9 -36852 1.4 ZNF449 NFIB JUN MAX ZIC2 RAD21 RFX5 FOSL1 ZFHX2 SMC3 AIPL1 WSCD1 PIR55314 PIR59656 PITPNM3 GC17M006460
GH17I006429 Enhancer 0.4 FANTOM5 11.3 +5.7 5698 0.3 POLR2A AIPL1 ENSG00000262818
GH17I006077 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 2.3 +356.0 355978 2.6 ZNF664 ZSCAN4 ZNF623 AIPL1 WSCD1 GC17M006087 GC17M005970
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AIPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AIPL1 gene promoter:

Genomic Locations for AIPL1 Gene

Genomic Locations for AIPL1 Gene
chr17:6,393,693-6,435,199
(GRCh38/hg38)
Size:
41,507 bases
Orientation:
Minus strand
chr17:6,297,013-6,338,519
(GRCh37/hg19)

Genomic View for AIPL1 Gene

Genes around AIPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIPL1 Gene

Proteins for AIPL1 Gene

  • Protein details for AIPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZN9-AIPL1_HUMAN
    Recommended name:
    Aryl-hydrocarbon-interacting protein-like 1
    Protein Accession:
    Q9NZN9
    Secondary Accessions:
    • D3DTM4
    • Q659W3
    • Q659W4
    • Q6ZZB6
    • Q8N6A0
    • Q9H873
    • Q9NS10

    Protein attributes for AIPL1 Gene

    Size:
    384 amino acids
    Molecular mass:
    43903 Da
    Quaternary structure:
    • Interacts with NUB1.

    Three dimensional structures from OCA and Proteopedia for AIPL1 Gene

    Alternative splice isoforms for AIPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIPL1 Gene

Post-translational modifications for AIPL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for AIPL1 Gene

Domains & Families for AIPL1 Gene

Gene Families for AIPL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AIPL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AIPL1: view

No data available for UniProtKB/Swiss-Prot for AIPL1 Gene

Function for AIPL1 Gene

Molecular function for AIPL1 Gene

GENATLAS Biochemistry:
arylhydrocarbon interacting protein-like 1,specifically expressed in the photoreceptor and pineal gland,maybe involved in retinal protein folding or trafficking
UniProtKB/Swiss-Prot Function:
May be important in protein trafficking and/or protein folding and stabilization.

Phenotypes From GWAS Catalog for AIPL1 Gene

Gene Ontology (GO) - Molecular Function for AIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001918 farnesylated protein binding IDA 14555765
GO:0005515 protein binding IPI 12374762
GO:0051082 unfolded protein binding TAS 10615133
genes like me logo Genes that share ontologies with AIPL1: view
genes like me logo Genes that share phenotypes with AIPL1: view

Human Phenotype Ontology for AIPL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AIPL1 Gene

MGI Knock Outs for AIPL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AIPL1 Gene

Localization for AIPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIPL1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIPL1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005634 nucleus IDA 12374762
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 12374762
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with AIPL1: view

Pathways & Interactions for AIPL1 Gene

SuperPathways for AIPL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AIPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEA --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light IEA --
GO:0018343 protein farnesylation IDA 14555765
GO:0030823 regulation of cGMP metabolic process IEA --
genes like me logo Genes that share ontologies with AIPL1: view

No data available for Pathways by source and SIGNOR curated interactions for AIPL1 Gene

Drugs & Compounds for AIPL1 Gene

(1) Drugs for AIPL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AIPL1: view

Transcripts for AIPL1 Gene

Unigene Clusters for AIPL1 Gene

Aryl hydrocarbon receptor interacting protein-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AIPL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - - -
SP6:
SP7: - -

Relevant External Links for AIPL1 Gene

GeneLoc Exon Structure for
AIPL1
ECgene alternative splicing isoforms for
AIPL1

Expression for AIPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AIPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIPL1 Gene

This gene is overexpressed in Testis (x13.5), Brain - Amygdala (x4.9), and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for AIPL1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AIPL1 Gene



Protein tissue co-expression partners for AIPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AIPL1 Gene:

AIPL1

SOURCE GeneReport for Unigene cluster for AIPL1 Gene:

Hs.279887

mRNA Expression by UniProt/SwissProt for AIPL1 Gene:

Q9NZN9-AIPL1_HUMAN
Tissue specificity: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.

Evidence on tissue expression from TISSUES for AIPL1 Gene

  • Eye(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AIPL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • olfactory bulb
  • pituitary gland
  • skull
Thorax:
  • breast
Abdomen:
  • liver
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AIPL1: view

Orthologs for AIPL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AIPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIPL1 33 34
  • 98.78 (n)
cow
(Bos Taurus)
Mammalia AIPL1 33 34
  • 90.15 (n)
dog
(Canis familiaris)
Mammalia AIPL1 33 34
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Aipl1 16 34 33
  • 85.57 (n)
rat
(Rattus norvegicus)
Mammalia Aipl1 33
  • 84.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AIPL1 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIPL1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIPL1 33 34
  • 67.38 (n)
lizard
(Anolis carolinensis)
Reptilia AIPL1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aipl1 33
  • 67.07 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537095 33
  • 66.47 (n)
AIPL1 34
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1847 35 34
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea C56C10.10 35 34
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2723 34
  • 38 (a)
OneToMany
Species where no ortholog for AIPL1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)

Evolution for AIPL1 Gene

ENSEMBL:
Gene Tree for AIPL1 (if available)
TreeFam:
Gene Tree for AIPL1 (if available)

Paralogs for AIPL1 Gene

Paralogs for AIPL1 Gene

(2) SIMAP similar genes for AIPL1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with AIPL1: view

Variants for AIPL1 Gene

Sequence variations from dbSNP and Humsavar for AIPL1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1057342681 uncertain-significance, Leber congenital amaurosis, Retinitis Pigmentosa, Dominant, Retinitis Pigmentosa, Recessive 6,424,062(-) C/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10852881 likely-benign, Retinitis Pigmentosa, Dominant, Leber congenital amaurosis, Retinitis Pigmentosa, Recessive 6,424,854(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111456528 uncertain-significance, Retinitis Pigmentosa, Recessive, Retinitis Pigmentosa, Dominant, Leber congenital amaurosis 6,424,453(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs112307858 likely-benign, Retinitis Pigmentosa, Recessive, Leber congenital amaurosis, Retinitis Pigmentosa, Dominant 6,425,239(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs11650007 not-provided, likely-benign, not provided, Leber congenital amaurosis, Retinitis Pigmentosa, Recessive, Retinitis Pigmentosa, Dominant 6,434,084(-) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for AIPL1 Gene

Variant ID Type Subtype PubMed ID
nsv574278 CNV gain 21841781

Variation tolerance for AIPL1 Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.00; 87.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIPL1 Gene

Human Gene Mutation Database (HGMD)
AIPL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIPL1 Gene

Disorders for AIPL1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for AIPL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis 4
  • cone-rod dystrophy
leber congenital amaurosis
  • lca
keratoconus
  • conical cornea
retinal disease
  • retinal disorders
yemenite deaf-blind hypopigmentation syndrome
  • warburg thomsen syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AIPL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AIPL1_HUMAN
  • Leber congenital amaurosis 4 (LCA4) [MIM:604393]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:10615133, ECO:0000269 PubMed:12374762, ECO:0000269 PubMed:17724218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AIPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AIPL1: view

No data available for Genatlas for AIPL1 Gene

Publications for AIPL1 Gene

  1. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. (PMID: 10615133) Sohocki MM … Daiger SP (Nature genetics 2000) 2 3 4 22 58
  2. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P … Stone EM (Molecular vision 2009) 3 22 44 58
  3. AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. (PMID: 15365173) Liu X … Li T (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 22 58
  4. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. (PMID: 15249368) Dharmaraj S … Maumenee IH (Archives of ophthalmology (Chicago, Ill. : 1960) 2004) 3 22 44 58
  5. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. (PMID: 14555765) Ramamurthy V … Hurley JB (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 22 58

Products for AIPL1 Gene

Sources for AIPL1 Gene

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