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Q9NZN9 (AIPL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aryl-hydrocarbon-interacting protein-like 1
Gene names
Name:AIPL1
Synonyms:AIPL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length384 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with NUB1. Ref.9

Subcellular location

Cytoplasm. Nucleus Ref.9.

Tissue specificity

Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. Ref.9

Involvement in disease

Leber congenital amaurosis 4 (LCA4) [MIM:604393]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.10

Sequence similarities

Contains 1 PPIase FKBP-type domain.

Contains 3 TPR repeats.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NUB1Q9Y5A72EBI-6557414,EBI-3936907

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZN9-1)

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.
Isoform 2 (identifier: Q9NZN9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     33-92: Missing.
Isoform 3 (identifier: Q9NZN9-3)

Also known as: AIPL2;

The sequence of this isoform differs from the canonical sequence as follows:
     93-155: Missing.
Isoform 4 (identifier: Q9NZN9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     33-54: Missing.
Isoform 5 (identifier: Q9NZN9-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 384384Aryl-hydrocarbon-interacting protein-like 1
PRO_0000075342

Regions

Domain53 – 14593PPIase FKBP-type
Repeat178 – 21134TPR 1
Repeat230 – 26334TPR 2
Repeat264 – 29734TPR 3

Natural variations

Alternative sequence33 – 9260Missing in isoform 2.
VSP_041507
Alternative sequence33 – 5422Missing in isoform 4.
VSP_047708
Alternative sequence93 – 15563Missing in isoform 3.
VSP_041508
Alternative sequence215 – 23824Missing in isoform 5.
VSP_047709
Natural variant331V → A.
Corresponds to variant rs16955859 [ dbSNP | Ensembl ].
VAR_050626
Natural variant901D → H. Ref.1 Ref.11
Corresponds to variant rs12449580 [ dbSNP | Ensembl ].
VAR_010140
Natural variant1341Y → F.
Corresponds to variant rs16955851 [ dbSNP | Ensembl ].
VAR_050627
Natural variant2391C → R in LCA4; no significant effect on interaction with NUB1. Ref.1 Ref.9
VAR_010139
Natural variant2701R → H in LCA4. Ref.10
VAR_067165
Natural variant3021R → L Found in a patient with LCA4; there is no interaction with NUB1. Ref.9 Ref.10
Corresponds to variant rs62637015 [ dbSNP | Ensembl ].
VAR_067166
Natural variant3091E → DLNRREL Found in a patient with LCA4.
VAR_067167

Experimental info

Mutagenesis531R → W: No interaction with NUB1. Ref.9
Mutagenesis791M → T: No interaction with NUB1. Ref.9
Mutagenesis961V → I: No interaction with NUB1. Ref.9
Mutagenesis1971A → P: No significant effect on interaction with NUB1. Ref.9
Mutagenesis2061I → N: No significant effect on interaction with NUB1. Ref.9
Mutagenesis2621G → S: No interaction with NUB1. Ref.9
Sequence conflict2441E → K in CAG17882. Ref.3
Sequence conflict306 – 31510RLLENRMAEK → EAAGEPHGGE in AAF26708. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 19, 2002. Version 2.
Checksum: 47F681A1DC91A82D

FASTA38443,903
        10         20         30         40         50         60 
MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH 

        70         80         90        100        110        120 
IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT 

       130        140        150        160        170        180 
CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV 

       190        200        210        220        230        240 
LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL 

       250        260        270        280        290        300 
LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA 

       310        320        330        340        350        360 
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA 

       370        380 
ELSAGPPAEP ATEPPPSPGH SLQH 

« Hide

Isoform 2 [UniParc].

Checksum: D826DA73B42245AD
Show »

FASTA32436,726
Isoform 3 (AIPL2) [UniParc].

Checksum: 31F4DD713F0EC2F8
Show »

FASTA32136,655
Isoform 4 [UniParc].

Checksum: D7625B866C33BD4A
Show »

FASTA36241,195
Isoform 5 [UniParc].

Checksum: 1200D3DC99532080
Show »

FASTA36040,901

References

« Hide 'large scale' references
[1]"Mutations in a novel photoreceptor-pineal gene on 17p cause Leber congenital amaurosis."
Sohocki M.M., Bowne S.J., Sullivan L.S., Blackshaw S., Cepko C.L., Payne A.M., Bhattacharya S.S., Khaliq S., Mehdi Q., Birch D.G., Harrison W.R., Elder F.F.B., Heckenlively J.R., Daiger S.P.
Nat. Genet. 24:79-83(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT HIS-90, VARIANT LCA4 ARG-239.
[2]Guo J.H., Zhou G.J., Yu L.
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Retinoblastoma.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Alternative splicing in AIPL1: Implications on function and the mutational spectrum."
Janke B., Preising M., Lorenz B.
Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 4 AND 5).
Tissue: Retina.
[5]"Full-length cDNA derived from human retinoblastoma cell line Y79."
Kato S.
Submitted (MAR-2011) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Retinoblastoma.
[6]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Eye.
[9]"The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1."
Akey D.T., Zhu X., Dyer M., Li A., Sorensen A., Blackshaw S., Fukuda-Kamitani T., Daiger S.P., Craft C.M., Kamitani T., Sohocki M.M.
Hum. Mol. Genet. 11:2723-2733(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NUB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF ARG-53; MET-79; VAL-96; ALA-197; ILE-206 AND GLY-262, CHARACTERIZATION OF VARIANT LEU-302, CHARACTERIZATION OF VARIANT LCA4 ARG-239.
Tissue: Retina.
[10]"Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients."
Simonelli F., Ziviello C., Testa F., Rossi S., Fazzi E., Bianchi P.E., Fossarello M., Signorini S., Bertone C., Galantuomo S., Brancati F., Valente E.M., Ciccodicola A., Rinaldi E., Auricchio A., Banfi S.
Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LCA4 HIS-270, VARIANT LEU-302.
[11]"Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-90 AND GLU-309 DELINS ASP-LEU-ASN-ARG-ARG-GLU-LEU.
+Additional computationally mapped references.

Web resources

Mutations of the AIPL1 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001028226.1. NM_001033054.2.
NP_001028227.1. NM_001033055.2.
NP_001272328.1. NM_001285399.2.
NP_001272329.1. NM_001285400.2.
NP_001272330.1. NM_001285401.2.
NP_001272332.1. NM_001285403.2.
NP_055151.3. NM_014336.4.
UniGeneHs.279887.

3D structure databases

ProteinModelPortalQ9NZN9.
SMRQ9NZN9. Positions 7-333.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117248. 13 interactions.
IntActQ9NZN9. 1 interaction.
STRING9606.ENSP00000370521.

PTM databases

PhosphoSiteQ9NZN9.

Polymorphism databases

DMDM23503042.

Proteomic databases

PaxDbQ9NZN9.
PRIDEQ9NZN9.

Protocols and materials databases

DNASU23746.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000250087; ENSP00000250087; ENSG00000129221. [Q9NZN9-3]
ENST00000381129; ENSP00000370521; ENSG00000129221. [Q9NZN9-1]
ENST00000570466; ENSP00000461287; ENSG00000129221. [Q9NZN9-4]
ENST00000576307; ENSP00000459522; ENSG00000129221. [Q9NZN9-2]
ENST00000576776; ENSP00000460827; ENSG00000129221. [Q9NZN9-5]
GeneID23746.
KEGGhsa:23746.
UCSCuc002gcp.3. human. [Q9NZN9-1]
uc002gcq.3. human. [Q9NZN9-2]
uc002gcr.3. human. [Q9NZN9-3]

Organism-specific databases

CTD23746.
GeneCardsGC17M006268.
HGNCHGNC:359. AIPL1.
MIM604392. gene.
604393. phenotype.
neXtProtNX_Q9NZN9.
Orphanet1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
PharmGKBPA24653.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG250378.
HOGENOMHOG000007366.
HOVERGENHBG004198.
InParanoidQ9NZN9.
KOK17767.
OMAERLRCRN.
PhylomeDBQ9NZN9.
TreeFamTF314507.

Gene expression databases

ArrayExpressQ9NZN9.
BgeeQ9NZN9.
CleanExHS_AIPL1.
GenevestigatorQ9NZN9.

Family and domain databases

Gene3D1.25.40.10. 1 hit.
InterProIPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
[Graphical view]
PfamPF00254. FKBP_C. 1 hit.
PF07719. TPR_2. 2 hits.
[Graphical view]
PROSITEPS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiAIPL1.
GenomeRNAi23746.
NextBio46671.
PROQ9NZN9.
SOURCESearch...

Entry information

Entry nameAIPL1_HUMAN
AccessionPrimary (citable) accession number: Q9NZN9
Secondary accession number(s): D3DTM4 expand/collapse secondary AC list , Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: September 19, 2002
Last modified: March 19, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

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