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AIPL1 aryl hydrocarbon receptor interacting protein like 1 [ Homo sapiens (human) ]

Gene ID: 23746, updated on 13-Oct-2018

Summary

Official Symbol
AIPL1provided by HGNC
Official Full Name
aryl hydrocarbon receptor interacting protein like 1provided by HGNC
Primary source
HGNC:HGNC:359
See related
Ensembl:ENSG00000129221 MIM:604392; Vega:OTTHUMG00000102043
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCA4; AIPL2
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See AIPL1 in Genome Data Viewer
Location:
17p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (6423737..6435199, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6327057..6338576, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene basic transcription factor 3 pseudogene 14 Neighboring gene uncharacterized LOC105371509 Neighboring gene uncharacterized LOC107985017 Neighboring gene PICALM interacting mitotic regulator Neighboring gene PITPNM family member 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
farnesylated protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
phototransduction, visible light IEA
Inferred from Electronic Annotation
more info
 
protein farnesylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of rhodopsin mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
retina homeostasis IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
aryl-hydrocarbon-interacting protein-like 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008474.1 RefSeqGene

    Range
    5001..16463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033054.2NP_001028226.1  aryl-hydrocarbon-interacting protein-like 1 isoform 2

    See identical proteins and their annotated locations for NP_001028226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AB593052, AF525970, BU737234
    Consensus CDS
    CCDS32540.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B6
    Related
    ENSP00000250087.5, OTTHUMP00000257717, ENST00000250087.9, OTTHUMT00000439077
    Conserved Domains (3) summary
    sd00006
    Location:117161
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:117198
    TPR_11; TPR repeat
    cl19519
    Location:3089
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. NM_001033055.2NP_001028227.1  aryl-hydrocarbon-interacting protein-like 1 isoform 3

    See identical proteins and their annotated locations for NP_001028227.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AB593052, AB593055, AF525970, AJ633677, BU737234
    Consensus CDS
    CCDS32539.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B6
    Related
    ENSP00000459522.1, OTTHUMP00000257718, ENST00000576307.5, OTTHUMT00000439078
    Conserved Domains (2) summary
    sd00006
    Location:120164
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:120201
    TPR_11; TPR repeat
  3. NM_001285399.2NP_001272328.1  aryl-hydrocarbon-interacting protein-like 1 isoform 4

    See identical proteins and their annotated locations for NP_001272328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AB593052, AF525970, BU737234, BX537907
    Consensus CDS
    CCDS67131.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B6, Q7Z3H1
    Related
    ENSP00000458456.1, OTTHUMP00000257720, ENST00000574506.5, OTTHUMT00000439081
    Conserved Domains (2) summary
    sd00006
    Location:168212
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:168249
    TPR_11; TPR repeat
  4. NM_001285400.2NP_001272329.1  aryl-hydrocarbon-interacting protein-like 1 isoform 5

    See identical proteins and their annotated locations for NP_001272329.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 5) is shorter, compared to isoform 1.
    Source sequence(s)
    AB593052, AF525970, AJ830742, BU737234
    Consensus CDS
    CCDS67130.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B6
    Related
    ENSP00000461287.1, OTTHUMP00000257722, ENST00000570466.5, OTTHUMT00000439083
    Conserved Domains (2) summary
    sd00006
    Location:158202
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:158239
    TPR_11; TPR repeat
  5. NM_001285401.2NP_001272330.1  aryl-hydrocarbon-interacting protein-like 1 isoform 6

    See identical proteins and their annotated locations for NP_001272330.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 6) is shorter, compared to isoform 1.
    Source sequence(s)
    AB593052, AB593055, AF525970, AJ830743, BU737234
    Consensus CDS
    CCDS67133.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B6
    Related
    ENSP00000460827.1, OTTHUMP00000257723, ENST00000576776.5, OTTHUMT00000439084
    Conserved Domains (3) summary
    sd00006
    Location:180205
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:180271
    TPR_11; TPR repeat
    cl19519
    Location:3089
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  6. NM_001285402.1NP_001272331.1  aryl-hydrocarbon-interacting protein-like 1 isoform 7

    See identical proteins and their annotated locations for NP_001272331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in the 5' terminal exon resulting in translation initiation at a downstream start codon, compared to variant 1. The resulting protein (isoform 7) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AB593048, AB593055, BC007994
    UniProtKB/TrEMBL
    F1T0B6, F1T0C0
    Conserved Domains (2) summary
    sd00006
    Location:141185
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:141222
    TPR_11; TPR repeat
  7. NM_001285403.2NP_001272332.1  aryl-hydrocarbon-interacting protein-like 1 isoform 8

    See identical proteins and their annotated locations for NP_001272332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in the 5' coding region and represents an alternate 3' UTR, compared to variant 1. The resulting protein (isoform 8) is shorter, compared to variant 1.
    Source sequence(s)
    AB593042, AB593051, AF525970
    Consensus CDS
    CCDS67132.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B5, F1T0C4
    Related
    ENSP00000460134.1, OTTHUMP00000257724, ENST00000571740.5, OTTHUMT00000439085
    Conserved Domains (2) summary
    sd00006
    Location:172216
    TPR; TPR repeat [structural motif]
    cl19519
    Location:3089
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  8. NM_014336.4NP_055151.3  aryl-hydrocarbon-interacting protein-like 1 isoform 1

    See identical proteins and their annotated locations for NP_055151.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB593052, AF525970, BU737234
    Consensus CDS
    CCDS11075.1
    UniProtKB/Swiss-Prot
    Q9NZN9
    UniProtKB/TrEMBL
    F1T0B6
    Related
    ENSP00000370521.3, OTTHUMP00000128207, ENST00000381129.7, OTTHUMT00000219828
    Conserved Domains (4) summary
    COG0457
    Location:179297
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:180224
    TPR; TPR repeat [structural motif]
    cl19519
    Location:3089
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    cl26005
    Location:261304
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    6423737..6435199 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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