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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-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • farnesylated protein binding Source: MGI
  • unfolded protein binding Source: ProtInc

GO - Biological processi

  • negative regulation of apoptotic process Source: Ensembl
  • phototransduction, visible light Source: Ensembl
  • protein farnesylation Source: MGI
  • regulation of cGMP metabolic process Source: Ensembl
  • retina homeostasis Source: Ensembl
  • visual perception Source: ProtInc

Keywordsi

Biological processSensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Aryl-hydrocarbon-interacting protein-like 1
Gene namesi
Name:AIPL1
Synonyms:AIPL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:359. AIPL1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI
  • nucleus Source: MGI
  • photoreceptor inner segment Source: Ensembl

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

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.
See also OMIM:604393
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010139239C → R in LCA4; no significant effect on interaction with NUB1. 2 PublicationsCorresponds to variant dbSNP:rs62637012Ensembl.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:rs62637015Ensembl.1
Natural variantiVAR_067167309E → DLNRREL Found in a patient with LCA4. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi23746.
GeneReviewsiAIPL1.
MalaCardsiAIPL1.
MIMi604393. phenotype.
OpenTargetsiENSG00000129221.
Orphaneti1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
PharmGKBiPA24653.

Polymorphism and mutation databases

BioMutaiAIPL1.
DMDMi23503042.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000753421 – 384Aryl-hydrocarbon-interacting protein-like 1Add BLAST384

Proteomic databases

PaxDbiQ9NZN9.
PeptideAtlasiQ9NZN9.
PRIDEiQ9NZN9.
TopDownProteomicsiQ9NZN9-1. [Q9NZN9-1]
Q9NZN9-2. [Q9NZN9-2]
Q9NZN9-3. [Q9NZN9-3]

PTM databases

iPTMnetiQ9NZN9.
PhosphoSitePlusiQ9NZN9.

Expressioni

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

BgeeiENSG00000129221.
CleanExiHS_AIPL1.
ExpressionAtlasiQ9NZN9. baseline and differential.
GenevisibleiQ9NZN9. HS.

Organism-specific databases

HPAiHPA026578.

Interactioni

Subunit structurei

Interacts with NUB1.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • farnesylated protein binding Source: MGI
  • unfolded protein binding Source: ProtInc

Protein-protein interaction databases

BioGridi117248. 13 interactors.
IntActiQ9NZN9. 19 interactors.
STRINGi9606.ENSP00000370521.

Structurei

3D structure databases

ProteinModelPortaliQ9NZN9.
SMRiQ9NZN9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini53 – 145PPIase FKBP-typeAdd BLAST93
Repeati178 – 211TPR 1Add BLAST34
Repeati230 – 263TPR 2Add BLAST34
Repeati264 – 297TPR 3Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG0545. Eukaryota.
ENOG410YGYV. LUCA.
GeneTreeiENSGT00390000001289.
HOGENOMiHOG000007366.
HOVERGENiHBG004198.
InParanoidiQ9NZN9.
KOiK17767.
OMAiVIEHCNE.
OrthoDBiEOG091G0C69.
PhylomeDBiQ9NZN9.
TreeFamiTF314507.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiView protein in InterPro
IPR031209. AIPL1.
IPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
PANTHERiPTHR11242:SF5. PTHR11242:SF5. 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.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs12449580Ensembl.1
Natural variantiVAR_050627134Y → F. Corresponds to variant dbSNP:rs16955851Ensembl.1
Natural variantiVAR_010139239C → R in LCA4; no significant effect on interaction with NUB1. 2 PublicationsCorresponds to variant dbSNP:rs62637012Ensembl.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:rs62637015Ensembl.1
Natural variantiVAR_067167309E → DLNRREL Found in a patient with LCA4. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.279887.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAIPL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZN9
Secondary accession number(s): D3DTM4
, Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: September 19, 2002
Last modified: August 30, 2017
This is version 160 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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