Q9NZN9 (AIPL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aryl-hydrocarbon-interacting protein-like 1

Gene names

Name:	AIPL1
Synonyms:	AIPL2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	384 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Leber congenital amaurosis
Domain	Repeat TPR repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of apoptotic process Inferred from electronic annotation. Source: Compara phototransduction, visible light Inferred from electronic annotation. Source: Compara protein farnesylation Inferred from direct assay PubMed 14555765. Source: MGI protein folding Inferred from electronic annotation. Source: InterPro regulation of cGMP metabolic process Inferred from electronic annotation. Source: Compara retina homeostasis Inferred from electronic annotation. Source: Compara visual perception Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cytoplasm Inferred from direct assay Ref.9. Source: MGI nucleus Inferred from direct assay Ref.9. Source: MGI photoreceptor inner segment Inferred from electronic annotation. Source: Compara
Molecular_function	farnesylated protein binding Inferred from direct assay PubMed 14555765. Source: MGI unfolded protein binding Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 384	384	Aryl-hydrocarbon-interacting protein-like 1		PRO_0000075342
Regions
	Domain	53 – 145	93	PPIase FKBP-type
	Repeat	178 – 211	34	TPR 1
	Repeat	230 – 263	34	TPR 2
	Repeat	264 – 297	34	TPR 3
Natural variations
	Alternative sequence	33 – 92	60	Missing in isoform 2.		VSP_041507
	Alternative sequence	93 – 155	63	Missing in isoform 3.		VSP_041508
	Natural variant	33	1	V → A. Corresponds to variant rs16955859 [ dbSNP | Ensembl ].		VAR_050626
	Natural variant	90	1	D → H. Ref.1 Ref.11 Corresponds to variant rs12449580 [ dbSNP | Ensembl ].		VAR_010140
	Natural variant	134	1	Y → F. Corresponds to variant rs16955851 [ dbSNP | Ensembl ].		VAR_050627
	Natural variant	239	1	C → R in LCA4; no significant effect on interaction with NUB1. Ref.1 Ref.9		VAR_010139
	Natural variant	270	1	R → H in LCA4. Ref.10		VAR_067165
	Natural variant	302	1	R → L Found in a patient with LCA4; there is no interaction with NUB1. Ref.9 Ref.10		VAR_067166
	Natural variant	309	1	E → DLNRREL Found in a patient with LCA4.		VAR_067167
Experimental info
	Mutagenesis	53	1	R → W: No interaction with NUB1. Ref.9
	Mutagenesis	79	1	M → T: No interaction with NUB1. Ref.9
	Mutagenesis	96	1	V → I: No interaction with NUB1. Ref.9
	Mutagenesis	197	1	A → P: No significant effect on interaction with NUB1. Ref.9
	Mutagenesis	206	1	I → N: No significant effect on interaction with NUB1. Ref.9
	Mutagenesis	262	1	G → S: No interaction with NUB1. Ref.9
	Sequence conflict	244	1	E → K in CAG17882. Ref.3
	Sequence conflict	306 – 315	10	RLLENRMAEK → EAAGEPHGGE in AAF26708. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 19, 2002. Version 2. Checksum: 47F681A1DC91A82D	FASTA	384	43,903
	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
	Isoform 2 [UniParc]. Checksum: D826DA73B42245AD	FASTA	324	36,726
	10 20 30 40 50 60 MDAALLLNVE GVKKTILHGG TGELPNFITG SRHTGVYPIL SRSLRQMAQG KDPTEWHVHT 70 80 90 100 110 120 CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV 130 140 150 160 170 180 LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL 190 200 210 220 230 240 LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA 250 260 270 280 290 300 VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA 310 320 ELSAGPPAEP ATEPPPSPGH SLQH
	Isoform 3 (AIPL2) [UniParc]. Checksum: 31F4DD713F0EC2F8	FASTA	321	36,655
	10 20 30 40 50 60 MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH 70 80 90 100 110 120 IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIVDAPSDYQ RETWNLSNHE KMKAVPVLHG 130 140 150 160 170 180 EGNRLFKLGR YEEASSKYQE AIICLRNLQT KEKPWEVQWL KLEKMINTLI LNYCQCLLKK 190 200 210 220 230 240 EEYYEVLEHT SDILRHHPGI VKAYYVRARA HAEVWNEAEA KADLQKVLEL EPSMQKAVRR 250 260 270 280 290 300 ELRLLENRMA EKQEEERLRC RNMLSQGATQ PPAEPPTEPP AQSSTEPPAE PPTAPSAELS 310 320 AGPPAEPATE PPPSPGHSLQ H

References

	« Hide 'large scale' referencesShow '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. , 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] (ISOFORM 2). 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. , 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. , 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. 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.
IPI	IPI00166974. IPI00303131. IPI00447756.
RefSeq	NP_001028226.1. NM_001033054.1. NP_001028227.1. NM_001033055.1. NP_055151.3. NM_014336.3.
UniGene	Hs.279887.
3D structure databases
ProteinModelPortal	Q9NZN9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000370521.
PTM databases
PhosphoSite	Q9NZN9.
Polymorphism databases
DMDM	23503042.
Proteomic databases
PaxDb	Q9NZN9.
PRIDE	Q9NZN9.
Protocols and materials databases
DNASU	23746.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000250087; ENSP00000250087; ENSG00000129221. ENST00000381129; ENSP00000370521; ENSG00000129221. ENST00000576307; ENSP00000459522; ENSG00000129221.
GeneID	23746.
KEGG	hsa:23746.
UCSC	uc002gcp.3. human. uc002gcq.3. human. uc002gcr.3. human.
Organism-specific databases
CTD	23746.
GeneCards	GC17M006268.
HGNC	HGNC:359. AIPL1.
MIM	604392. gene. 604393. phenotype.
neXtProt	NX_Q9NZN9.
Orphanet	1872. Cone rod dystrophy. 65. Leber congenital amaurosis. 791. Retinitis pigmentosa.
PharmGKB	PA24653.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG250378.
HOGENOM	HOG000007366.
HOVERGEN	HBG004198.
InParanoid	Q9NZN9.
OMA	ERLRCRN.
OrthoDB	EOG483D4Z.
PhylomeDB	Q9NZN9.
Gene expression databases
ArrayExpress	Q9NZN9.
Bgee	Q9NZN9.
CleanEx	HS_AIPL1.
Genevestigator	Q9NZN9.
GermOnline	ENSG00000129221. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 1 hit.
InterPro	IPR001179. PPIase_FKBP_dom. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR013105. TPR_2. [Graphical view]
Pfam	PF00254. FKBP_C. 1 hit. PF07719. TPR_2. 2 hits. [Graphical view]
PROSITE	PS50059. FKBP_PPIASE. False negative. PS50005. TPR. False negative. PS50293. TPR_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23746.
NextBio	46671.
SOURCE	Search...

Entry information

Entry name

AIPL1_HUMAN

Accession

Primary (citable) accession number: Q9NZN9
Secondary accession number(s): D3DTM4 , Q6ZZB6, Q8N6A0, Q9H873, Q9NS10

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	September 19, 2002
Last modified:	May 1, 2013
This is version 121 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.