Download Gene Section HIP1 (huntingtin interactin protein 1) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Short Communication
HIP1 (huntingtin interactin protein 1)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Published in Atlas Database: August 1998
Online updated version: http://AtlasGeneticsOncology.org/Genes/HIP1ID138.html
DOI: 10.4267/2042/37453
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Localisation
Identity
Membrane associated protein.
Location: 7q11.2
Function
Probable role in the cytoskeleton organization.
Homology
With Sla2p (SLA2 gene product in yeast).
Implicated in
t(5;7)(q33;q11)/myeloid malignancies →
PDGFRb - HIP1
Disease
Yet unknown: only one case of chronic
myelomonocytic leukaemia.
Hybrid/Mutated Gene
5' HIP1- 3' PDGFRb.
Abnormal Protein
Nearly all of HIP1, including the leucine zipper and
talin homology domains, is fused to the transmembrane
and tyrosine kinase domain of the PDGFb.
Oncogenesis
Constitutive activation of PDGFb (by tyrosine
autophosphorylation).
HIP1 (7q11) - Courtesy Mariano Rocchi.
DNA/RNA
Transcription
cDNA: 9.4 kb; coding sequence: 2.9 kb.
Protein
Description
To be noted
968 amino acids; 116 kDa; contains a leucine zipper
(amino acids 412-433) and a region with homology to
talin, a cytoskeletal associated protein (amino acids
861-900).
Note: HIP1, as its name indicates, interacts with
huntingtin, the protein mutated (expansion of
CAG/glutamine repeats) in Huntington's disease
(progressive chorea, dementia, and depression or
psychotic disorders; OMIM 143100).
Expression
Wide; brain in particular.
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4)
120
HIP1 (huntingtin interactin protein 1)
Huret JL
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Wälter S,
Tait D, Colicelli J, Lehrach H. HIP-I: A huntingtin interacting
protein isolated by the yeast two-hybrid system. Hum Mol
Genet 1997;6(3):487-95.
References
Kalchman MA, Koide HB, McCutcheon K, Graham RK, Nichol
K, Nishiyama K, Kazemi-Esfarjani P, Lynn FC, Wellington C,
Metzler M, Goldberg YP, Kanazawa I, Gietz RD, Hayden MR.
HIP1, a human homologue of S.cerevisiae Sla2p, interacts with
membrane-associated huntingtin in the brain. Nat Genet
1997;16(1):44-53.
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4)
This article should be referenced as such:
Huret JL. HIP1 (huntingtin interactin protein 1). Atlas Genet
Cytogenet Oncol Haematol.1998;2(4):120-121.
121