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Article

Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.

Human molecular genetics - 15 Apr 2004

Oravecz-Wilson Katherine I, Kiel Mark J, Li Lina, Rao Dinesh S, Saint-Dic Djenann, Kumar Priti D, Provot Melissa M, Hankenson Kurt D, Reddy Venkat N, Lieberman Andrew P, Morrison Sean J, Ross Theodora S

Abstract excerpt

Huntingtin Interacting Protein 1 (HIP1) binds clathrin and AP2, is overexpressed in multiple human tumors, and transforms fibroblasts. The function of HIP1 is unknown although it is thought to play a fundamental role in clathrin trafficking. Gene-targeted Hip1-/- mice develop premature testicular degeneration and severe spinal deformities. Yet, although HIP1 is expressed in many tissues including the spleen and...

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Source

Identifiers

PMID: 14998932
DOI: 10.1093/hmg/ddh102

Genes

HIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.PMID 14998932Read ↗

Hip1-related mutant mice grow and develop normally but have accelerated spinal abnormalities and dwarfism in the absence of HIP1.Semantic proximity Read ↗

HIP1: trafficking roles and regulation of tumorigenesis.Semantic proximity Read ↗

Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1.Semantic proximity Read ↗

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking.Semantic proximity Read ↗

Use of a cryptic splice site for the expression of huntingtin interacting protein 1 in select normal and neoplastic tissues.Semantic proximity Read ↗

Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors.Semantic proximity Read ↗

Huntingtin-interacting protein 1 phosphorylation by receptor tyrosine kinases.Semantic proximity Read ↗

Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagySemantic proximity Read ↗

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceSemantic proximity Read ↗

HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2.Semantic proximity Read ↗

Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice.Semantic proximity Read ↗

Multifaceted Microcephaly-Related Gene MCPH1.Semantic proximity Read ↗

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