Reviewed, UniProtKB/Swiss-Prot Q9NZN9 (AIPL1_HUMAN)

Names and origin

Protein names

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

Gene names

Name:

AIPL1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	384 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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.4
Subcellular location	Cytoplasm. Nucleus. Ref.4
Tissue specificity	Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. Ref.4
Involvement in disease	Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Ref.4 Ref.1
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	Polymorphism
Disease	Disease mutation Leber congenital amaurosis
Domain	Repeat TPR repeat
Gene Ontology (GO)
Biological process	protein farnesylation Inferred from direct assay. Source: MGI response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Ref.4 Inferred from direct assay. Source: MGI nucleus Ref.1 Ref.4 Inferred from direct assay. Source: MGI
Molecular function	farnesylated protein binding Inferred from direct assay. Source: MGI unfolded protein binding Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

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
	Natural variant	33	1	V → A: dbSNP rs16955859.		VAR_050626
	Natural variant	90	1	D → H: dbSNP rs12449580. Ref.1		VAR_010140
	Natural variant	134	1	Y → F: dbSNP rs16955851.		VAR_050627
	Natural variant	239	1	C → R in LCA4; no significant effect on interaction with NUB1. Ref.4 Ref.1		VAR_010139
Experimental info
	Mutagenesis	53	1	R → W: No interaction with NUB1. Ref.4
	Mutagenesis	79	1	M → T: No interaction with NUB1. Ref.4
	Mutagenesis	96	1	V → I: No interaction with NUB1. Ref.4
	Mutagenesis	197	1	A → P: No significant effect on interaction with NUB1. Ref.4
	Mutagenesis	206	1	I → N: No significant effect on interaction with NUB1. Ref.4
	Mutagenesis	262	1	G → S: No interaction with NUB1. Ref.4
	Mutagenesis	302	1	R → L: No interaction with NUB1. Ref.4
	Sequence conflict	306 – 315	10	RLLENRMAEK → EAAGEPHGGE in AAF26708. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9NZN9-1 [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

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: 10615133] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-90, VARIANT LCA4 ARG-239.
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[4]	"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: 12374762] [Abstract] Cited for: INTERACTION WITH NUB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF ARG-53; MET-79; VAL-96; ALA-197; ILE-206; GLY-262 AND ARG-302, CHARACTERIZATION OF VARIANT LCA4 ARG-239. Tissue: Retina.
+	Additional computationally mapped references.

Web resources

Mutations of the AIPL1 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF180472 Genomic DNA. Translation: AAF26708.1. AF148864 mRNA. Translation: AAF74023.1. AK023970 mRNA. Translation: BAB14744.1. BC012055 mRNA. Translation: AAH12055.1.
IPI	IPI00303131.
RefSeq	NP_055151.3.
UniGene	Hs.279887
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q9NZN9.
Proteomic databases
PRIDE	Q9NZN9.
Genome annotation databases
Ensembl	ENSG00000129221. Homo sapiens. [Contig view]
GeneID	23746.
Organism-specific databases
GeneCards	GC17M006268.
H-InvDB	HIX0013476.
HGNC	HGNC:359. AIPL1.
MIM	604392. gene. 604393. phenotype.
Orphanet	1872. Cone rod dystrophy. 65. Leber amaurosis, congenital.
PharmGKB	PA24653.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9NZN9.
HOVERGEN	Q9NZN9.
OMA	Q9NZN9. QRETWNL.
Gene expression databases
ArrayExpress	Q9NZN9.
Bgee	Q9NZN9.
CleanEx	HS_AIPL1.
GermOnline	ENSG00000129221. Homo sapiens.
Family and domain databases
InterPro	IPR011990. TPR-like_helical. IPR013026. TPR_region. [Graphical view]
Gene3D	G3DSA:1.25.40.10. TPR-like_helical. 1 hit.
PROSITE	PS50059. FKBP_PPIASE. False negative. PS50005. TPR. False negative. PS50293. TPR_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	46671.
SOURCE	Search...

Entry information

Entry name

AIPL1_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	September 19, 2002
Last modified:	May 5, 2009
This is version 86 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)