• Gene id: 3092

Gene Summary

• Gene Symbol: HIP1   Gene   UCSC   Ensembl
• Aliases: HIP-I, ILWEQ, SHON, SHONbeta, SHONgamma
• Gene name: huntingtin interacting protein 1
• Alternate names: huntingtin-interacting protein 1, huntingtin-interacting protein I,
• Gene location: 7q11.23 (75738975: 75533297)     Exons: 35     NC_000009.12
• Gene summary(Entrez): The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's d
• OMIM: 601767

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa05016	Huntington disease

Diseases

Associated diseases	References
Systemic lupus erythematosus (SLE)	GAD: 19838193
Required for differentiation of late spermatogenic progenitors	MIK: 11604514
Role in stabilizing actin and microtubules, which are important cytoskeletal elements enabling normal spermatid and Sertoli cell morphology and function	MIK: 16967501
Cryptorchidism	MIK: 28606200
Required for differentiation of late spermatogenic progenitors	MIK: 11604514
Role in stabilizing actin and microtubules, which are important cytoskeletal elements enabling normal spermatid and Sertoli cell morphology and function	MIK: 16967501
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16967501	Role in stabilizing actin and microtubules, which are important cytoskeletal elements enabling normal spermatid and Sertoli cell morphology and function				Male infertility
11604514	Required for differentiation of late spermatogenic progenitors				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq