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The Protein Pages

Tubby-like Protein 1 (TULP1)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 09.07.00

Description

The Tubby-like Protein 1 is found in many tissues. Its function has not been solved actually. It belongs to a superfamily of evolutionary conserved proteins inluding the mouse tubby protein underlying progressive retinal and cochlear degeneration, maturity onset obesity, and insulin resistance. (1).

GENE DATA

Exons: 14

Markers / RFLPs: D6S439 - 24.3 cR - D6S2187 - 34.5 cR - D6S2003 - 26.2 cR - TULP1 - 10.9 cR - D6S2128 - 10.5 cR - D6S1875 - 29.5 cR - D6S291 - 21.2 cR - D6S989

Transcripts:

Regulatory elements:

Primers:

Chromosome 6 with TULP1
Assignment: 6p21.3 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

ARRP

PROTEIN DATA
Subunits: 1 Amino acids: 542 AA
Modifications:


Mr/ Weight:


Cofactors:



PROTEIN DATA

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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite

GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
Tubby Protein
tub Drosophila melanogaster AE003606 L20448 M59501

Tubby Protein
TUB Homo sapiens U54644 H92408 NM_003320 Hs.54468 96200779
Tubby Protein
TUB Mus musculus U52433 U52824 X69827 U92546 U54643 Mm.4804 96195061 94153998
Tubby Protein
Tub Rattus norvegicus NM_013077 AB011544 Rn.30017
Tubby-like Protein type 1 TULP1 Homo sapiens U82467 U82468 U82469 NM_003322 AF034923 AH005847 Hs.93537 97250501

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
Tubby Protein
tub Drosophila melanogaster


40554
Tubby Protein
TULP1 Homo sapiens

602280
Tubby Protein
TUB Homo sapiens

601197 7275
Tubby Protein
TUB Mus musculus
tub
22141
Tubby Protein
Tub Rattus norvegicus


25609
Tubby-like Protein type 1 TULP1 Homo sapiens


7287

References:
1. Gu,S., Lennon,A., Li,Y., Lorenz,B., Fossarello,M., North,M., Gal,A., and Wright,A. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. 1998; Lancet. 351: 1103-1104.
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2. North,M.A., Naggert,J.K., Yan,Y., Noben Trauth,K., and Nishina,P.M. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. 1997; Proc.Natl.Acad.Sci.U.S.A. 94: 3128-3133.
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Contact the editor: irpamp@irpa.org 		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