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Entry version 174 (31 Jul 2019)
Sequence version 2 (19 Sep 2002)
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Protein

Aryl-hydrocarbon-interacting protein-like 1

Gene

AIPL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Aryl-hydrocarbon-interacting protein-like 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AIPL1
Synonyms:AIPL2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:359 AIPL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604392 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZN9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Leber congenital amaurosis 4 (LCA4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010139239C → R in LCA4; no significant effect on interaction with NUB1. 2 PublicationsCorresponds to variant dbSNP:rs62637012EnsemblClinVar.1
Natural variantiVAR_067165270R → H in LCA4. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi53R → W: No interaction with NUB1. 1 Publication1
Mutagenesisi79M → T: No interaction with NUB1. 1 Publication1
Mutagenesisi96V → I: No interaction with NUB1. 1 Publication1
Mutagenesisi197A → P: No significant effect on interaction with NUB1. 1 Publication1
Mutagenesisi206I → N: No significant effect on interaction with NUB1. 1 Publication1
Mutagenesisi262G → S: No interaction with NUB1. 1 Publication1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
23746

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
AIPL1

MalaCards human disease database

More...
MalaCardsi
AIPL1
MIMi604393 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000129221

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1872 Cone rod dystrophy
65 Leber congenital amaurosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24653

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AIPL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23503042

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000753421 – 384Aryl-hydrocarbon-interacting protein-like 1Add BLAST384

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZN9

PeptideAtlas

More...
PeptideAtlasi
Q9NZN9

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZN9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
65946
65947
83467 [Q9NZN9-1]
83468 [Q9NZN9-2]
83469 [Q9NZN9-3]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9NZN9-1 [Q9NZN9-1]
Q9NZN9-2 [Q9NZN9-2]
Q9NZN9-3 [Q9NZN9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZN9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZN9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000129221 Expressed in 34 organ(s), highest expression level in pigmented layer of retina

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZN9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZN9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026578

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NUB1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117248, 25 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZN9, 20 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000370521

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1384
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NZN9

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini53 – 145PPIase FKBP-typeAdd BLAST93
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati178 – 211TPR 1Add BLAST34
Repeati230 – 263TPR 2Add BLAST34
Repeati264 – 297TPR 3Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0545 Eukaryota
ENOG410YGYV LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001289

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007366

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZN9

KEGG Orthology (KO)

More...
KOi
K17767

Identification of Orthologs from Complete Genome Data

More...
OMAi
ERMQAVP

Database of Orthologous Groups

More...
OrthoDBi
606683at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZN9

TreeFam database of animal gene trees

More...
TreeFami
TF314507

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039663 AIP/AIPL1
IPR031209 AIPL1
IPR001179 PPIase_FKBP_dom
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

The PANTHER Classification System

More...
PANTHERi
PTHR11242 PTHR11242, 1 hit
PTHR11242:SF2 PTHR11242:SF2, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00254 FKBP_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00028 TPR, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452 SSF48452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50293 TPR_REGION, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZN9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID
60 70 80 90 100
DSRQVGQPMH IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL
110 120 130 140 150
SRSLRQMAQG KDPTEWHVHT CGLANMFAYH TLGYEDLDEL QKEPQPLVFV
160 170 180 190 200
IELLQVDAPS DYQRETWNLS NHEKMKAVPV LHGEGNRLFK LGRYEEASSK
210 220 230 240 250
YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL LKKEEYYEVL
260 270 280 290 300
EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA
310 320 330 340 350
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP
360 370 380
PAEPPTAPSA ELSAGPPAEP ATEPPPSPGH SLQH
Length:384
Mass (Da):43,903
Last modified:September 19, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i47F681A1DC91A82D
GO
Isoform 2 (identifier: Q9NZN9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-92: Missing.

Show »
Length:324
Mass (Da):36,726
Checksum:iD826DA73B42245AD
GO
Isoform 3 (identifier: Q9NZN9-3) [UniParc]FASTAAdd to basket
Also known as: AIPL2

The sequence of this isoform differs from the canonical sequence as follows:
     93-155: Missing.

Show »
Length:321
Mass (Da):36,655
Checksum:i31F4DD713F0EC2F8
GO
Isoform 4 (identifier: Q9NZN9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-54: Missing.

Show »
Length:362
Mass (Da):41,195
Checksum:iD7625B866C33BD4A
GO
Isoform 5 (identifier: Q9NZN9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-238: Missing.

Show »
Length:360
Mass (Da):40,901
Checksum:i1200D3DC99532080
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q7Z3H1Q7Z3H1_HUMAN
Aryl hydrocarbon receptor interacti...
AIPL1 DKFZp686O2183, hCG_32821
372Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KPI5J3KPI5_HUMAN
Aryl-hydrocarbon-interacting protei...
AIPL1
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F1T0C4F1T0C4_HUMAN
Aryl hydrocarbon receptor interacti...
AIPL1 hCG_32821
270Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F1T0B5F1T0B5_HUMAN
Aryl-hydrocarbon-interacting protei...
AIPL1
262Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3R9I3L3R9_HUMAN
Aryl-hydrocarbon-interacting protei...
AIPL1
216Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPF4K7EPF4_HUMAN
Aryl-hydrocarbon-interacting protei...
AIPL1
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti244E → K in CAG17882 (PubMed:14702039).Curated1
Sequence conflicti306 – 315RLLENRMAEK → EAAGEPHGGE in AAF26708 (PubMed:10615133).Curated10

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05062633V → A. Corresponds to variant dbSNP:rs16955859Ensembl.1
Natural variantiVAR_01014090D → H2 PublicationsCorresponds to variant dbSNP:rs12449580EnsemblClinVar.1
Natural variantiVAR_050627134Y → F. Corresponds to variant dbSNP:rs16955851EnsemblClinVar.1
Natural variantiVAR_010139239C → R in LCA4; no significant effect on interaction with NUB1. 2 PublicationsCorresponds to variant dbSNP:rs62637012EnsemblClinVar.1
Natural variantiVAR_067165270R → H in LCA4. 1 Publication1
Natural variantiVAR_067166302R → L Found in a patient with LCA4; there is no interaction with NUB1. 2 PublicationsCorresponds to variant dbSNP:rs62637015EnsemblClinVar.1
Natural variantiVAR_067167309E → DLNRREL Found in a patient with LCA4. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04150733 – 92Missing in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_04770833 – 54Missing in isoform 4. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_04150893 – 155Missing in isoform 3. 2 PublicationsAdd BLAST63
Alternative sequenceiVSP_047709215 – 238Missing in isoform 5. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF180472 Genomic DNA Translation: AAF26708.1
AF148864 mRNA Translation: AAF74023.1
AF525970 mRNA Translation: AAM88405.1
AK023970 mRNA Translation: BAB14744.1
AJ633677 mRNA Translation: CAG17882.1
AJ830742 mRNA Translation: CAH25995.1
AJ830743 mRNA Translation: CAH25996.1
AB593053 mRNA Translation: BAJ84000.1
AB593054 mRNA Translation: BAJ84001.1
AC055872 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90310.1
CH471108 Genomic DNA Translation: EAW90312.1
CH471108 Genomic DNA Translation: EAW90313.1
CH471108 Genomic DNA Translation: EAW90314.1
BC012055 mRNA Translation: AAH12055.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11075.1 [Q9NZN9-1]
CCDS32539.1 [Q9NZN9-2]
CCDS32540.1 [Q9NZN9-3]
CCDS67130.1 [Q9NZN9-4]
CCDS67133.1 [Q9NZN9-5]

NCBI Reference Sequences

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RefSeqi
NP_001028226.1, NM_001033054.2 [Q9NZN9-3]
NP_001028227.1, NM_001033055.2 [Q9NZN9-2]
NP_001272328.1, NM_001285399.2
NP_001272329.1, NM_001285400.2 [Q9NZN9-4]
NP_001272330.1, NM_001285401.2 [Q9NZN9-5]
NP_001272332.1, NM_001285403.2
NP_055151.3, NM_014336.4 [Q9NZN9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000250087; ENSP00000250087; ENSG00000129221 [Q9NZN9-3]
ENST00000381129; ENSP00000370521; ENSG00000129221 [Q9NZN9-1]
ENST00000570466; ENSP00000461287; ENSG00000129221 [Q9NZN9-4]
ENST00000576307; ENSP00000459522; ENSG00000129221 [Q9NZN9-2]
ENST00000576776; ENSP00000460827; ENSG00000129221 [Q9NZN9-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23746

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23746

UCSC genome browser

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UCSCi
uc002gcp.5 human [Q9NZN9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the AIPL1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF180472 Genomic DNA Translation: AAF26708.1
AF148864 mRNA Translation: AAF74023.1
AF525970 mRNA Translation: AAM88405.1
AK023970 mRNA Translation: BAB14744.1
AJ633677 mRNA Translation: CAG17882.1
AJ830742 mRNA Translation: CAH25995.1
AJ830743 mRNA Translation: CAH25996.1
AB593053 mRNA Translation: BAJ84000.1
AB593054 mRNA Translation: BAJ84001.1
AC055872 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90310.1
CH471108 Genomic DNA Translation: EAW90312.1
CH471108 Genomic DNA Translation: EAW90313.1
CH471108 Genomic DNA Translation: EAW90314.1
BC012055 mRNA Translation: AAH12055.1
CCDSiCCDS11075.1 [Q9NZN9-1]
CCDS32539.1 [Q9NZN9-2]
CCDS32540.1 [Q9NZN9-3]
CCDS67130.1 [Q9NZN9-4]
CCDS67133.1 [Q9NZN9-5]
RefSeqiNP_001028226.1, NM_001033054.2 [Q9NZN9-3]
NP_001028227.1, NM_001033055.2 [Q9NZN9-2]
NP_001272328.1, NM_001285399.2
NP_001272329.1, NM_001285400.2 [Q9NZN9-4]
NP_001272330.1, NM_001285401.2 [Q9NZN9-5]
NP_001272332.1, NM_001285403.2
NP_055151.3, NM_014336.4 [Q9NZN9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5U9AX-ray2.70A2-161[»]
5U9IX-ray2.30A2-161[»]
5U9JX-ray2.10A/B2-161[»]
5U9KX-ray2.70A2-161[»]
5V35X-ray2.50A2-161[»]
SMRiQ9NZN9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117248, 25 interactors
IntActiQ9NZN9, 20 interactors
STRINGi9606.ENSP00000370521

PTM databases

iPTMnetiQ9NZN9
PhosphoSitePlusiQ9NZN9

Polymorphism and mutation databases

BioMutaiAIPL1
DMDMi23503042

Proteomic databases

PaxDbiQ9NZN9
PeptideAtlasiQ9NZN9
PRIDEiQ9NZN9
ProteomicsDBi65946
65947
83467 [Q9NZN9-1]
83468 [Q9NZN9-2]
83469 [Q9NZN9-3]
TopDownProteomicsiQ9NZN9-1 [Q9NZN9-1]
Q9NZN9-2 [Q9NZN9-2]
Q9NZN9-3 [Q9NZN9-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23746
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000250087; ENSP00000250087; ENSG00000129221 [Q9NZN9-3]
ENST00000381129; ENSP00000370521; ENSG00000129221 [Q9NZN9-1]
ENST00000570466; ENSP00000461287; ENSG00000129221 [Q9NZN9-4]
ENST00000576307; ENSP00000459522; ENSG00000129221 [Q9NZN9-2]
ENST00000576776; ENSP00000460827; ENSG00000129221 [Q9NZN9-5]
GeneIDi23746
KEGGihsa:23746
UCSCiuc002gcp.5 human [Q9NZN9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23746
DisGeNETi23746

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AIPL1
GeneReviewsiAIPL1
HGNCiHGNC:359 AIPL1
HPAiHPA026578
MalaCardsiAIPL1
MIMi604392 gene
604393 phenotype
neXtProtiNX_Q9NZN9
OpenTargetsiENSG00000129221
Orphaneti1872 Cone rod dystrophy
65 Leber congenital amaurosis
PharmGKBiPA24653

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0545 Eukaryota
ENOG410YGYV LUCA
GeneTreeiENSGT00390000001289
HOGENOMiHOG000007366
InParanoidiQ9NZN9
KOiK17767
OMAiERMQAVP
OrthoDBi606683at2759
PhylomeDBiQ9NZN9
TreeFamiTF314507

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AIPL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23746

Protein Ontology

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PROi
PR:Q9NZN9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000129221 Expressed in 34 organ(s), highest expression level in pigmented layer of retina
ExpressionAtlasiQ9NZN9 baseline and differential
GenevisibleiQ9NZN9 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR039663 AIP/AIPL1
IPR031209 AIPL1
IPR001179 PPIase_FKBP_dom
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR11242 PTHR11242, 1 hit
PTHR11242:SF2 PTHR11242:SF2, 1 hit
PfamiView protein in Pfam
PF00254 FKBP_C, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 2 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50293 TPR_REGION, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAIPL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZN9
Secondary accession number(s): D3DTM4
, Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: September 19, 2002
Last modified: July 31, 2019
This is version 174 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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