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Editor's Notes

from literature on

Tubby and Tubby-like Proteins (Tub, TULP)

Editor's Notes

Recent update from: 03.01.2000

TUB Notes

  • May mediate tissue specific expression
  • High expression in heart, brain, ovary, thyroid, spinal cord
  • low expression in muscle, prostate, testis, small intestine, trachea, adrenal gland
  • 2.4 kb transcript in liver and thyroid
  • ca. 0.005% of retinal cDNA clones
  • Markers: 14.7 cM distal from D11S932/D11S2050, 8.1 cM proximal from D11S4639
  • Highly conserved C-termini of TULP1, TULP2, TUB, and even C. elegans 48.2 K protein
  • D11S1331-4.7 cR-D11S4660-16.9 cR-D11S2050-D11S932-14.7 cR-TUB-8.1 cR-D11S4639-4.3 cR-D11S909-24.1 cR-D11S4355
Species: Homo sapiens
See also:
Chromosomal localisation in man: 11p15.4

in mouse:
Gene Data
mRNA: 7-7.5 kb
Exons:
Primers:
Protein Data
Amino acids: 561 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (5)
TUB Notes

  • May mediate tissue specific expression
Species: Mus musculus
See also:
Chromosomal localisation in man:

in mouse: 7
Gene Data

Exons:
Primers:
Protein Data
Amino acids: 505 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (5)
Tub Notes

  • highly expressed in ganglion cells and photoreceptors
Species: Mus musculus
See also:
Chromosomal localisation in man:

in mouse:
Gene Data

Exons:
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (1)
tub Notes

  • Expressed in brain, testis, eye, reduced expression in small and large intestine, adipose, lung, ovary, thymus, liver
  • Cytosolic
Species: Mus musculus
See also:
Chromosomal localisation in man:

in mouse:
Gene Data
mRNA: 6.3 kb
Exons:
Primers:
Protein Data
Amino acids: 505 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (4)
tub Notes

  • Splice variants corresponding to a intron length polymorphism
  • 89% identity at DNA, 94% identity at AA level
  • pI=9.2 => hydrophilic
  • No secretory sequence, mitochondrial transit peptide, or transmembrane domain
  • N-glycosylation at 205 and 426
  • May be restricted to multicellular organisms
Species: Mus musculus
See also:
Chromosomal localisation in man:

in mouse: 7
Gene Data
mRNA: 6.3 kb
Exons:
Primers:
Protein Data
Amino acids: 505 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (2)
TULP1, type 1 Notes

  • May mediate tissue specific expression
  • Maps close to RP14
  • Expression in retina
  • Markers: 26.2 cM distal from D6S2003, 10.9 cM proximal from D6S2128
  • Highly conserved C-termini of TULP1, TULP2, TUB, and even C. elegans 48.2 K protein
  • 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
Species: Homo sapiens
See also:
Chromosomal localisation in man: 6p21.3

in mouse:
Gene Data

Exons:
Primers:
Protein Data
Amino acids: 542 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (5)
TULP2, type 2 Notes

  • May mediate tissue specific expression
  • Maps close to CRD
  • Expression in testis
  • Markers: 28 cM distal from D19S1113, 62.1 cM proximal from D19S998
  • Highly conserved C-termini of TULP1, TULP2, TUB, and even C. elegans 48.2 K protein
  • Fixed mutation in man resulting in a protein 6 AA smaller than other species
  • D19S851-47,9 cR-D19S1057-19.4 cR-Wi-7187-9.9 cR-D19S1113-28 cR-TULP2-62.1 cR-D19S998-16.6 cR-D19S867
Species: Homo sapiens
See also:
Chromosomal localisation in man: 19q13.1

in mouse:
Gene Data
mRNA: 1.8 kb
Exons:
Primers:
Protein Data
Amino acids: 520 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (5)
TULP3, type 3 Notes

  • C-terminus conserved between TULP-proteins and Tub
  • Closer relation to Tub than TULP
  • 71% identitiy to mouse
  • Expressed in: cerebellum, corpus callosum, occipital pole, spinal cord, thyroid, adrenal gland, bone marrow
Species: Homo sapiens
See also:
Chromosomal localisation in man: 12p13.2

in mouse: 6
Gene Data
mRNA: 3.4 kb
Exons:
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (3)
References:

1. Ikeda, S., He, W., Naggert, J.K., North, M.A., and Nishina, P.M. The Localization Of Tubby Gene Family Members In The Retina. 1999; Invest.Ophthalmol.Vis.Sci. 40: S613
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2. Kleyn, P.W., Fan, W., Kovats, S.G., Lee, J.J., Pulido, J.C., Wu, Y., Berkemeier, L.R., Misumi, D.J., Holmgren, L., Charlat, O., Woolf, E.A., Tayber, O., Brody, T., Shu, P., Hawkins, F., Kennedy, B., Baldini, L., Ebeling, C., Alperin, G.D., Deeds, J., Lakey, N.D., Culpepper, J., Chen, H., Glucksmann Kuis, M.A., Moore, K.J., and et al. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. 1996; Cell. 85: 281 - 290.
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3. Nishina, P.M., North, M.A., Ikeda, A., Yan, Y., and Naggert, J.K. Molecular Characterization Of A Novel Tubby Gene Family Member, TULP3, In Mouse And Humans. 1998; Invest.Ophthalmol.Vis.Sci. 39: S570
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4. Noben Trauth, K., Naggert, J.K., North, M.A., and Nishina, P.M. A candidate gene for the mouse mutation tubby. 1996; Nature. 380: 534 - 538.
Goto Top Link to PudMed

5. 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; Proceedings of the National Academy of Sciences of the United States of America. 94: 3128 - 3133.
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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