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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

Complete GO annotation...

Keywords - Biological processi

Sensory 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
ProteomesiUP000005640 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
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 4 (LCA4)2 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti239 – 2391C → R in LCA4; no significant effect on interaction with NUB1. 2 Publications
VAR_010139
Natural varianti270 – 2701R → H in LCA4. 1 Publication
VAR_067165
Natural varianti302 – 3021R → L Found in a patient with LCA4; there is no interaction with NUB1. 2 Publications
Corresponds to variant rs62637015 [ dbSNP | Ensembl ].
VAR_067166
Natural varianti309 – 3091E → DLNRREL Found in a patient with LCA4. 1 Publication
VAR_067167

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi53 – 531R → W: No interaction with NUB1. 1 Publication
Mutagenesisi79 – 791M → T: No interaction with NUB1. 1 Publication
Mutagenesisi96 – 961V → I: No interaction with NUB1. 1 Publication
Mutagenesisi197 – 1971A → P: No significant effect on interaction with NUB1. 1 Publication
Mutagenesisi206 – 2061I → N: No significant effect on interaction with NUB1. 1 Publication
Mutagenesisi262 – 2621G → S: No interaction with NUB1. 1 Publication

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis

Organism-specific databases

MIMi604393. phenotype.
Orphaneti1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
PharmGKBiPA24653.

Polymorphism and mutation databases

BioMutaiAIPL1.
DMDMi23503042.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 384384Aryl-hydrocarbon-interacting protein-like 1PRO_0000075342Add
BLAST

Proteomic databases

PaxDbiQ9NZN9.
PRIDEiQ9NZN9.

PTM databases

PhosphoSiteiQ9NZN9.

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

BgeeiQ9NZN9.
CleanExiHS_AIPL1.
ExpressionAtlasiQ9NZN9. baseline and differential.
GenevisibleiQ9NZN9. HS.

Interactioni

Subunit structurei

Interacts with NUB1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NUB1Q9Y5A72EBI-6557414,EBI-3936907

Protein-protein interaction databases

BioGridi117248. 13 interactions.
IntActiQ9NZN9. 1 interaction.
STRINGi9606.ENSP00000370521.

Structurei

3D structure databases

ProteinModelPortaliQ9NZN9.
SMRiQ9NZN9. Positions 7-165, 173-312.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini53 – 14593PPIase FKBP-typeAdd
BLAST
Repeati178 – 21134TPR 1Add
BLAST
Repeati230 – 26334TPR 2Add
BLAST
Repeati264 – 29734TPR 3Add
BLAST

Sequence similaritiesi

Contains 1 PPIase FKBP-type domain.Curated
Contains 3 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG250378.
GeneTreeiENSGT00390000001289.
HOGENOMiHOG000007366.
HOVERGENiHBG004198.
InParanoidiQ9NZN9.
KOiK17767.
OMAiYCQCLLK.
PhylomeDBiQ9NZN9.
TreeFamiTF314507.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
[Graphical view]
PfamiPF00254. FKBP_C. 1 hit.
PF07719. TPR_2. 2 hits.
[Graphical view]
PROSITEiPS50293. TPR_REGION. 2 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti244 – 2441E → K in CAG17882 (PubMed:14702039).Curated
Sequence conflicti306 – 31510RLLENRMAEK → EAAGEPHGGE in AAF26708 (PubMed:10615133).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331V → A.
Corresponds to variant rs16955859 [ dbSNP | Ensembl ].
VAR_050626
Natural varianti90 – 901D → H.2 Publications
Corresponds to variant rs12449580 [ dbSNP | Ensembl ].
VAR_010140
Natural varianti134 – 1341Y → F.
Corresponds to variant rs16955851 [ dbSNP | Ensembl ].
VAR_050627
Natural varianti239 – 2391C → R in LCA4; no significant effect on interaction with NUB1. 2 Publications
VAR_010139
Natural varianti270 – 2701R → H in LCA4. 1 Publication
VAR_067165
Natural varianti302 – 3021R → L Found in a patient with LCA4; there is no interaction with NUB1. 2 Publications
Corresponds to variant rs62637015 [ dbSNP | Ensembl ].
VAR_067166
Natural varianti309 – 3091E → DLNRREL Found in a patient with LCA4. 1 Publication
VAR_067167

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei33 – 9260Missing in isoform 2. 1 PublicationVSP_041507Add
BLAST
Alternative sequencei33 – 5422Missing in isoform 4. 1 PublicationVSP_047708Add
BLAST
Alternative sequencei93 – 15563Missing in isoform 3. 2 PublicationsVSP_041508Add
BLAST
Alternative sequencei215 – 23824Missing in isoform 5. 1 PublicationVSP_047709Add
BLAST

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.
ENST00000570466; ENSP00000461287; ENSG00000129221. [Q9NZN9-4]
ENST00000576307; ENSP00000459522; ENSG00000129221. [Q9NZN9-2]
ENST00000576776; ENSP00000460827; ENSG00000129221. [Q9NZN9-5]
GeneIDi23746.
KEGGihsa:23746.
UCSCiuc002gcp.3. human. [Q9NZN9-1]
uc002gcq.3. human. [Q9NZN9-2]
uc002gcr.3. human. [Q9NZN9-3]
uc010clk.3. human.
uc010cll.3. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
UniGeneiHs.279887.

3D structure databases

ProteinModelPortaliQ9NZN9.
SMRiQ9NZN9. Positions 7-165, 173-312.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117248. 13 interactions.
IntActiQ9NZN9. 1 interaction.
STRINGi9606.ENSP00000370521.

PTM databases

PhosphoSiteiQ9NZN9.

Polymorphism and mutation databases

BioMutaiAIPL1.
DMDMi23503042.

Proteomic databases

PaxDbiQ9NZN9.
PRIDEiQ9NZN9.

Protocols and materials databases

DNASUi23746.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000250087; ENSP00000250087; ENSG00000129221. [Q9NZN9-3]
ENST00000381129; ENSP00000370521; ENSG00000129221.
ENST00000570466; ENSP00000461287; ENSG00000129221. [Q9NZN9-4]
ENST00000576307; ENSP00000459522; ENSG00000129221. [Q9NZN9-2]
ENST00000576776; ENSP00000460827; ENSG00000129221. [Q9NZN9-5]
GeneIDi23746.
KEGGihsa:23746.
UCSCiuc002gcp.3. human. [Q9NZN9-1]
uc002gcq.3. human. [Q9NZN9-2]
uc002gcr.3. human. [Q9NZN9-3]
uc010clk.3. human.
uc010cll.3. human.

Organism-specific databases

CTDi23746.
GeneCardsiGC17M006297.
GeneReviewsiAIPL1.
HGNCiHGNC:359. AIPL1.
MIMi604392. gene.
604393. phenotype.
neXtProtiNX_Q9NZN9.
Orphaneti1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
PharmGKBiPA24653.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG250378.
GeneTreeiENSGT00390000001289.
HOGENOMiHOG000007366.
HOVERGENiHBG004198.
InParanoidiQ9NZN9.
KOiK17767.
OMAiYCQCLLK.
PhylomeDBiQ9NZN9.
TreeFamiTF314507.

Miscellaneous databases

GeneWikiiAIPL1.
GenomeRNAii23746.
NextBioi46671.
PROiQ9NZN9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NZN9.
CleanExiHS_AIPL1.
ExpressionAtlasiQ9NZN9. baseline and differential.
GenevisibleiQ9NZN9. HS.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
[Graphical view]
PfamiPF00254. FKBP_C. 1 hit.
PF07719. TPR_2. 2 hits.
[Graphical view]
PROSITEiPS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. 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] (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.
    , 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. 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. 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.

Entry informationi

Entry nameiAIPL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZN9
Secondary accession number(s): D3DTM4
, Q659W3, Q659W4, Q6ZZB6, Q8N6A0, Q9H873, Q9NS10
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: September 19, 2002
Last modified: July 22, 2015
This is version 142 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.