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Gene Review:

HIP1R - huntingtin interacting protein 1 related

Homo sapiens

Synonyms: FLJ14000, HIP-12, HIP1-related protein, HIP12, HIP3, ...

Provençal, N. et al., Hyun, T.S. et al., Brett, T.J. et al., Seki, N. et al., Legendre-Guillemin, V. et al., et al.

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Disease relevance of HIP1R

In contrast to HIP1, which is toxic in cell culture, HIP12 does not confer toxicity in the same assay systems [1].

Psychiatry related information on HIP1R

Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder [2].
Allelic and genotypic association studies should be undertaken to verify the involvement of HIP12/HIP1R in bipolar disorder [2].

High impact information on HIP1R

Mutants that fail to bind CLC are unable to promote clathrin assembly in vitro but still mediate HIP1 homodimerization and heterodimerization with the family member HIP12/HIP1R [3].
HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains [4].
Our data suggest that HIP1 and HIP12 play related yet distinct functional roles in clathrin-mediated endocytosis [5].
We report here investigation of the stability of intergenerational transmission of a variable number tandem repeat (VNTR) polymorphism, found in the Huntingtin interacting protein-1 related gene (HIP12/HIP1R) that is mapped to the chromosome 12q24.31 region, in nine pedigrees showing decreased age at onset in successive generations [2].
Huntingtin-interacting protein-1 related (HIP1R) has a crucial protein-trafficking role, mediating associations between actin and clathrin-coated structures at the plasma membrane and trans-Golgi network [6].

Biological context of HIP1R

Based on PCR-assisted analysis of a radiation hybrid panel and fluorescence in situ hybridization, HIP1R was localized to the q24 region of chromosome 12 [7].
The 1.9-A crystal structure of the human HIP1R THATCH core reveals a large sequence-conserved surface patch created primarily by residues from the third and fourth helices of a unique five-helix bundle [6].
Although HIP1r and HIP1 display only a partially overlapping pattern of protein interactions, these data suggest that both proteins share a functional homology by binding 3-phosphorylated inositol lipids and stabilizing receptor tyrosine kinases in a fashion that may contribute to their ability to alter cell growth and survival [4].

Other interactions of HIP1R

Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1) [7].
Here we demonstrate that both HIP1r and HIP1 bind inositol lipids via their epsin N-terminal homology (ENTH) domains [4].

References

HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin. Chopra, V.S., Metzler, M., Rasper, D.M., Engqvist-Goldstein, A.E., Singaraja, R., Gan, L., Fichter, K.M., McCutcheon, K., Drubin, D., Nicholson, D.W., Hayden, M.R. Mamm. Genome (2000) [Pubmed]
Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder. Provençal, N., Shink, E., Harvey, M., Tremblay, M., Barden, N. Prog. Neuropsychopharmacol. Biol. Psychiatry (2004) [Pubmed]
Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain. Legendre-Guillemin, V., Metzler, M., Lemaire, J.F., Philie, J., Gan, L., Hayden, M.R., McPherson, P.S. J. Biol. Chem. (2005) [Pubmed]
HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains. Hyun, T.S., Rao, D.S., Saint-Dic, D., Michael, L.E., Kumar, P.D., Bradley, S.V., Mizukami, I.F., Oravecz-Wilson, K.I., Ross, T.S. J. Biol. Chem. (2004) [Pubmed]
HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. Legendre-Guillemin, V., Metzler, M., Charbonneau, M., Gan, L., Chopra, V., Philie, J., Hayden, M.R., McPherson, P.S. J. Biol. Chem. (2002) [Pubmed]
Structural definition of the F-actin-binding THATCH domain from HIP1R. Brett, T.J., Legendre-Guillemin, V., McPherson, P.S., Fremont, D.H. Nat. Struct. Mol. Biol. (2006) [Pubmed]
Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1). Seki, N., Muramatsu, M., Sugano, S., Suzuki, Y., Nakagawara, A., Ohhira, M., Hayashi, A., Hori, T., Saito, T. J. Hum. Genet. (1998) [Pubmed]

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