Human Gene AIPL1 (ENST00000381129.8_7) from GENCODE V47lift37
  Description: aryl hydrocarbon receptor interacting protein like 1, transcript variant 1 (from RefSeq NM_014336.5)
Gencode Transcript: ENST00000381129.8_7
Gencode Gene: ENSG00000129221.16_11
Transcript (Including UTRs)
   Position: hg19 chr17:6,327,058-6,338,441 Size: 11,384 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr17:6,328,780-6,338,424 Size: 9,645 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:6,327,058-6,338,441)mRNA (may differ from genome)Protein (384 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AIPL1_HUMAN
DESCRIPTION: RecName: Full=Aryl-hydrocarbon-interacting protein-like 1;
FUNCTION: May be important in protein trafficking and/or protein folding and stabilization.
SUBUNIT: Interacts with NUB1.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.
DISEASE: Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
SIMILARITY: Contains 1 PPIase FKBP-type domain.
SIMILARITY: Contains 3 TPR repeats.
WEB RESOURCE: Name=Mutations of the AIPL1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/aipl1mut.htm";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIPL1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AIPL1
Diseases sorted by gene-association score: leber congenital amaurosis 4* (1238), leber congenital amaurosis* (823), cone-rod dystrophy, aipl1-related* (400), aipl1-related leber congenital amaurosis* (119), aipl1-related retinitis pigmentosa* (100), keratoconus (28), retinal disease (13), rpe65-related leber congenital amaurosis (13), yemenite deaf-blind hypopigmentation syndrome (10), leber congenital amaurosis 9 (8), achromatopsia 3 (6), cone-rod dystrophy (6), enhanced s-cone syndrome (6), hereditary choroidal atrophy (5), partial central choroid dystrophy (5), retinitis pigmentosa* (5), retinal degeneration (5), retinal vascular disease (4), fundus dystrophy (3), congenital stationary night blindness (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.32 RPKM in Testis
Total median expression: 0.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00170.000 Picture PostScript Text
3' UTR -579.901722-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023114 - Elongated_TPR_rpt_dom
IPR001179 - PPIase_FKBP_dom
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR013105 - TPR_2

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase
PF13181 - Tetratricopeptide repeat

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
56349 - DNA breaking-rejoining enzymes
54534 - FKBP-like

ModBase Predicted Comparative 3D Structure on Q9NZN9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001918 farnesylated protein binding
GO:0005515 protein binding
GO:0051082 unfolded protein binding

Biological Process:
GO:0001895 retina homeostasis
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0018343 protein farnesylation
GO:0030823 regulation of cGMP metabolic process
GO:0043066 negative regulation of apoptotic process
GO:0050896 response to stimulus

Cellular Component:
GO:0001917 photoreceptor inner segment
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB593048 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd39B05.
AB593049 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd43E04.
AB593055 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd79B03.
AB593053 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd62B04.
AB593047 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd33B08.
AB593052 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd55A02.
BC014398 - Homo sapiens cDNA clone IMAGE:3356118, **** WARNING: chimeric clone ****.
BX537907 - Homo sapiens mRNA; cDNA DKFZp686O2183 (from clone DKFZp686O2183); complete cds.
BX647279 - Homo sapiens mRNA; cDNA DKFZp686J0499 (from clone DKFZp686J0499).
AK023970 - Homo sapiens cDNA FLJ13908 fis, clone Y79AA1000059, highly similar to Homo sapiens aryl-hydrocarbon interacting protein-like 1 (AIPL1) gene.
AF148864 - Homo sapiens aryl-hydrocarbon interacting protein-like-1 (AIPL1) mRNA, complete cds.
JD534890 - Sequence 515914 from Patent EP1572962.
JD101000 - Sequence 82024 from Patent EP1572962.
JD247177 - Sequence 228201 from Patent EP1572962.
JD308798 - Sequence 289822 from Patent EP1572962.
JD096350 - Sequence 77374 from Patent EP1572962.
JD446992 - Sequence 428016 from Patent EP1572962.
JD444707 - Sequence 425731 from Patent EP1572962.
AF525970 - Homo sapiens aryl hydrocarbon receptor-interacting protein-like 2 (AIPL2) mRNA, complete cds.
JD498389 - Sequence 479413 from Patent EP1572962.
JD239803 - Sequence 220827 from Patent EP1572962.
JD392079 - Sequence 373103 from Patent EP1572962.
AB593054 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd78G10.
AB593043 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBb04H03.
AB593050 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd49F09.
AB593044 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBb19F08.
AB593045 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBb50D06.
AB593046 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd27D03.
BC007994 - Homo sapiens aryl hydrocarbon receptor interacting protein-like 1, mRNA (cDNA clone IMAGE:3356509), with apparent retained intron.
BC012055 - Homo sapiens aryl hydrocarbon receptor interacting protein-like 1, mRNA (cDNA clone MGC:19873 IMAGE:4634156), complete cds.
AF038437 - Homo sapiens Ah receptor-interacting protein mRNA, complete cds.
JD135407 - Sequence 116431 from Patent EP1572962.
AJ633677 - Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 2.
AJ633678 - Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 1.
AJ830742 - Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 3.
AJ830743 - Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 4.
JD334382 - Sequence 315406 from Patent EP1572962.
JD371071 - Sequence 352095 from Patent EP1572962.
JD098241 - Sequence 79265 from Patent EP1572962.
JD114989 - Sequence 96013 from Patent EP1572962.
JD199972 - Sequence 180996 from Patent EP1572962.
AK314558 - Homo sapiens cDNA, FLJ95382, highly similar to Homo sapiens aryl hydrocarbon receptor interacting protein-like 1(AIPL1), mRNA.
KJ898534 - Synthetic construct Homo sapiens clone ccsbBroadEn_07928 AIPL1 gene, encodes complete protein.
KR710450 - Synthetic construct Homo sapiens clone CCSBHm_00012744 AIPL1 (AIPL1) mRNA, encodes complete protein.
KR710451 - Synthetic construct Homo sapiens clone CCSBHm_00012749 AIPL1 (AIPL1) mRNA, encodes complete protein.
KR710452 - Synthetic construct Homo sapiens clone CCSBHm_00012756 AIPL1 (AIPL1) mRNA, encodes complete protein.
KR710453 - Synthetic construct Homo sapiens clone CCSBHm_00012758 AIPL1 (AIPL1) mRNA, encodes complete protein.
DQ892260 - Synthetic construct clone IMAGE:100004890; FLH184663.01X; RZPDo839A07146D aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene, encodes complete protein.
DQ895462 - Synthetic construct Homo sapiens clone IMAGE:100009922; FLH184659.01L; RZPDo839A07145D aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene, encodes complete protein.
AB593051 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBd50B11.
AB593042 - Homo sapiens AIPL1 mRNA for aryl-hydrocarbon-interacting protein-like 1, complete cds, clone: HP05221-RBb04G06.
JD298382 - Sequence 279406 from Patent EP1572962.
JD416926 - Sequence 397950 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AIPL1_HUMAN, AIPL2, D3DTM4, ENST00000381129.1, ENST00000381129.2, ENST00000381129.3, ENST00000381129.4, ENST00000381129.5, ENST00000381129.6, ENST00000381129.7, NM_014336, Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10, Q9NZN9, uc318qbe.1, uc318qbe.2
UCSC ID: ENST00000381129.8_7
RefSeq Accession: NM_014336.5
Protein: Q9NZN9 (aka AIPL1_HUMAN or AIPL_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AIPL1:
lca-ov (Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.