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Q9NZN9

- AIPL1_HUMAN

UniProt

Q9NZN9 - AIPL1_HUMAN

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Protein

Aryl-hydrocarbon-interacting protein-like 1

Gene
AIPL1, AIPL2
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. farnesylated protein binding Source: MGI
  2. protein binding Source: IntAct
  3. unfolded protein binding Source: ProtInc

GO - Biological processi

  1. negative regulation of apoptotic process Source: Ensembl
  2. phototransduction, visible light Source: Ensembl
  3. protein farnesylation Source: MGI
  4. protein folding Source: InterPro
  5. regulation of cGMP metabolic process Source: Ensembl
  6. retina homeostasis Source: Ensembl
  7. visual perception Source: ProtInc
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: Chromosome 17

Organism-specific databases

HGNCiHGNC:359. AIPL1.

Subcellular locationi

Cytoplasm. Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: MGI
  2. nucleus Source: MGI
  3. photoreceptor inner segment Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
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.
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.
791. Retinitis pigmentosa.
PharmGKBiPA24653.

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

ArrayExpressiQ9NZN9.
BgeeiQ9NZN9.
CleanExiHS_AIPL1.
GenevestigatoriQ9NZN9.

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.

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 3 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG250378.
HOGENOMiHOG000007366.
HOVERGENiHBG004198.
InParanoidiQ9NZN9.
KOiK17767.
OMAiRLRCRNM.
PhylomeDBiQ9NZN9.
TreeFamiTF314507.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
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. Align

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

MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID    50
DSRQVGQPMH IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL 100
SRSLRQMAQG KDPTEWHVHT CGLANMFAYH TLGYEDLDEL QKEPQPLVFV 150
IELLQVDAPS DYQRETWNLS NHEKMKAVPV LHGEGNRLFK LGRYEEASSK 200
YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL LKKEEYYEVL 250
EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA 300
VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP 350
PAEPPTAPSA ELSAGPPAEP ATEPPPSPGH SLQH 384
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

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.
VAR_067167

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei33 – 9260Missing in isoform 2. VSP_041507Add
BLAST
Alternative sequencei33 – 5422Missing in isoform 4. VSP_047708Add
BLAST
Alternative sequencei93 – 15563Missing in isoform 3. VSP_041508Add
BLAST
Alternative sequencei215 – 23824Missing in isoform 5. VSP_047709Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti244 – 2441E → K in CAG17882. 1 Publication
Sequence conflicti306 – 31510RLLENRMAEK → EAAGEPHGGE in AAF26708. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q9NZN9-1]
uc002gcq.3. human. [Q9NZN9-2]
uc002gcr.3. human. [Q9NZN9-3]

Polymorphism databases

DMDMi23503042.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11075.1. [Q9NZN9-1 ]
CCDS32539.1. [Q9NZN9-2 ]
CCDS32540.1. [Q9NZN9-3 ]
CCDS67130.1. [Q9NZN9-4 ]
CCDS67133.1. [Q9NZN9-5 ]
RefSeqi NP_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 ]
UniGenei Hs.279887.

3D structure databases

ProteinModelPortali Q9NZN9.
SMRi Q9NZN9. Positions 7-165, 173-312.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117248. 13 interactions.
IntActi Q9NZN9. 1 interaction.
STRINGi 9606.ENSP00000370521.

PTM databases

PhosphoSitei Q9NZN9.

Polymorphism databases

DMDMi 23503042.

Proteomic databases

PaxDbi Q9NZN9.
PRIDEi Q9NZN9.

Protocols and materials databases

DNASUi 23746.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000250087 ; ENSP00000250087 ; ENSG00000129221 . [Q9NZN9-3 ]
ENST00000381129 ; ENSP00000370521 ; ENSG00000129221 . [Q9NZN9-1 ]
ENST00000570466 ; ENSP00000461287 ; ENSG00000129221 . [Q9NZN9-4 ]
ENST00000576307 ; ENSP00000459522 ; ENSG00000129221 . [Q9NZN9-2 ]
ENST00000576776 ; ENSP00000460827 ; ENSG00000129221 . [Q9NZN9-5 ]
GeneIDi 23746.
KEGGi hsa:23746.
UCSCi uc002gcp.3. human. [Q9NZN9-1 ]
uc002gcq.3. human. [Q9NZN9-2 ]
uc002gcr.3. human. [Q9NZN9-3 ]

Organism-specific databases

CTDi 23746.
GeneCardsi GC17M006268.
GeneReviewsi AIPL1.
HGNCi HGNC:359. AIPL1.
MIMi 604392. gene.
604393. phenotype.
neXtProti NX_Q9NZN9.
Orphaneti 1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
PharmGKBi PA24653.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG250378.
HOGENOMi HOG000007366.
HOVERGENi HBG004198.
InParanoidi Q9NZN9.
KOi K17767.
OMAi RLRCRNM.
PhylomeDBi Q9NZN9.
TreeFami TF314507.

Miscellaneous databases

GeneWikii AIPL1.
GenomeRNAii 23746.
NextBioi 46671.
PROi Q9NZN9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NZN9.
Bgeei Q9NZN9.
CleanExi HS_AIPL1.
Genevestigatori Q9NZN9.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
InterProi IPR001179. PPIase_FKBP_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
[Graphical view ]
Pfami PF00254. FKBP_C. 1 hit.
PF07719. TPR_2. 2 hits.
[Graphical view ]
PROSITEi PS50293. TPR_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

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 9, 2014
This is version 133 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