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

    Gene ID: 23746, updated on 9-Jun-2016
    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 HPRD:05092; 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]
    Orthologs
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 family with sequence similarity 64 member A Neighboring gene PITPNM family member 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    farnesylated protein binding IDA
    Inferred from Direct Assay
    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 
    protein folding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cGMP metabolic process 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 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    aryl-hydrocarbon-interacting protein-like 1
    Names
    aryl hydrocarbon receptor interacting protein-like 1

    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, OTTHUMP00000257717, ENST00000250087, OTTHUMT00000439077
      Conserved Domains (2) summary
      pfam00254
      Location:2989
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      sd00006
      Location:117161
      TPR; TPR repeat [structural motif]
    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, OTTHUMP00000257718, ENST00000576307, OTTHUMT00000439078
      Conserved Domains (2) summary
      PLN03088
      Location:201244
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:120164
      TPR; TPR repeat [structural motif]
    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, OTTHUMP00000257720, ENST00000574506, OTTHUMT00000439081
      Conserved Domains (2) summary
      PLN03088
      Location:249292
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:168212
      TPR; TPR repeat [structural motif]
    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, OTTHUMP00000257722, ENST00000570466, OTTHUMT00000439083
      Conserved Domains (2) summary
      PLN03088
      Location:239282
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:158202
      TPR; TPR repeat [structural motif]
    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, OTTHUMP00000257723, ENST00000576776, OTTHUMT00000439084
      Conserved Domains (3) summary
      pfam00254
      Location:2989
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13414
      Location:180271
      TPR_11; TPR repeat
      sd00006
      Location:180205
      TPR; TPR repeat [structural motif]
    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
      PLN03088
      Location:222265
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:141185
      TPR; TPR repeat [structural motif]
    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, OTTHUMP00000257724, ENST00000571740, OTTHUMT00000439085
      Conserved Domains (3) summary
      pfam00254
      Location:2989
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13414
      Location:172253
      TPR_11; TPR repeat
      sd00006
      Location:172216
      TPR; TPR repeat [structural motif]
    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, OTTHUMP00000128207, ENST00000381129, OTTHUMT00000219828
      Conserved Domains (3) summary
      pfam00254
      Location:2989
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13414
      Location:180261
      TPR_11; TPR repeat
      sd00006
      Location:180224
      TPR; TPR repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      6336285..6347951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)