Retina International's Scientific Newsletter - Aryl Hydrocarbon Receptor-interacting Protein-like 1

	Retina International's Scientific Newsletter Editor's Notes from literature on
	Aryl Hydrocarbon Receptor-interacting Protein-like 1 (AIPL1)

Recent update from: 13.03.2003

AIPL1

Notes

C-terminal proline-rich region may serve to regulate recruitment or exchange of proteins in multiprotein complexes
Present in developing and mature photoreceptors
Colocalizing and interacting with NUB1
Expression:
- fetal weeks nuclear
  - 10: IPL
  - 14: apical to outer neuroblastic layer
  - 16: developing photoreceptors
- Child, Adult: ONL, PIS, nuclear and cytoplasmic
Results do not prove improper folding or abolished AA interaction to cause LCA
May participate in photoreceptor degeneration by disrupting the normal cell cycle
Subcellular localization indicates similar trafficking function as AIP
Most C-terminal 144 AA have the highest ability to interact with NUB1

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

AIPL1

Notes

Contains 3 TRP motifs
49% identity to AIP
Member of the FK506-binding protein family
pI: 5.57
Detected by probe crosshybridizing to 18s RNA in the retina
Weaker signals in skeletal muscle and heart
mRNA in retina
Expression in rat and mouse pineal gland
87% identity to rat aipl1
Contains a C-terminal extension of 56 AA compared to rat aipl1, human AIP and mouse Aip
This region contains glycosylation and phosphorylation sites and a hinge region

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13
	in mouse:

Gene Data

Exons: 6

Primers:

Protein Data

Amino acids: 384 AA

Molecular weight	on SDS-PAGE:
	calculated: 43865 Da

Reference: (2)

AIPL1

Notes

Homology to FK506-proteins
Exon Intron boundaries

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13
	in mouse:

Gene Data

Exons: 6

Primers: complete

Protein Data

Amino acids: 384 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

AIPL1

Notes

Highest sequence conservation across the TRP motifs
Primate specific Pro-rich AA sequence at the C-terminus
Orthologs in dog, cow, mouse but not in zebrafish or chicken
Chimpanzee and human sequences are identical in length

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

AIPL1

Notes

Specific to human retina and cell lines of retinal origine (Y79)
IR in rods only
IR extended from RIS to nuclei to rod synaptic spherules in the OPL
Not detected in cones
Argues on cone loss due to missing cone maturation

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13.1
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids: 384 AA

Molecular weight	on SDS-PAGE: 43 kDa (retinal)
	calculated:

Reference: (5)

Aipl1

Notes

Reduced expression in CRX-/-

Species: Mus musculus (domesticus)

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

References:

Akey,D.T., Zhu,X., Dyer,M., Li,A., Sorensen,A., Blackshaw,S., Fukuda-Kamitani,T., Daiger,S.P., Craft,C.M., Kamitani,T., and Sohocki,M.M. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. 2002; Hum.Mol.Genet. 11: 2723-2733.
Link to PubMed
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Sohocki,M.M., Bowne,S.J., Sullivan,L.S., Blackshaw,S., Cepko,C.L., Payne,A.M., Bhattacharya,S.S., Khaliq,S., Qasim Mehdi,S., Birch,D.G., Harrison,W.R., Elder,F.F., Heckenlively,J.R., and Daiger,S.P. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 2000; Nat.Genet. 24: 79-83.
Link to PubMed
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Sohocki,M.M., Daiger,S.P., Bowne,S.J., Rodriquez,J.A., Northrup,H., Heckenlively,J.R., Birch,D.G., Mintz-Hittner,H., Ruiz,R.S., Lewis,R.A., Saperstein,D.A., and Sullivan,L.S. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 2001; Hum.Mutat. 17: 42-51.
Link to PubMed
Goto Top
Sohocki,M.M., Perrault,I., Leroy,B.P., Payne,A.M., Dharmaraj,S., Bhattacharya,S.S., Kaplan,J., Maumenee,I.H., Koenekoop,R., Meire,F.M., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. 2000; Mol.Genet.Metab. 70: 142-150.
Link to PubMed
Goto Top
van der Spuy,J., Chapple,J.P., Clark,B.J., Luthert,P.J., Sethi,C.S., and Cheetham,M.E. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. 2002; Hum.Mol.Genet. 11: 823-831.
Link to PubMed
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Contact the editor	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz