InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HTT

Summary

InnateDB Protein

IDBP-7854.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HTT

Protein Name

huntingtin

Synonyms

HD; IT15;

Species

Homo sapiens

Ensembl Protein

ENSP00000347184

InnateDB Gene

IDBG-7852 (HTT)

Protein Structure

UniProt Annotation

Function

May play a role in microtubule-mediated transport or vesicle function.

Subcellular Localization

Cytoplasm. Nucleus. Note=The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner.

Disease Associations

Huntington disease (HD) [MIM:143100]: A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brain cortex (at protein level). Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation. {ECO:0000269PubMed:16391387}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 313 experimentally validated interaction(s) in this database.
They are also associated with 92 interaction(s) predicted by orthology.

Experimentally validated
Total	313 [view]
Protein-Protein	309 [view]
Protein-DNA	2 [view]
Protein-RNA	1 [view]
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	92 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002039	p53 binding
GO:0005488	binding
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0034452	dynactin binding
GO:0042802	identical protein binding
GO:0045505	dynein intermediate chain binding
GO:0048487	beta-tubulin binding
GO:0050809	diazepam binding

Biological Process

GO:0000050	urea cycle
GO:0000052	citrulline metabolic process
GO:0000132	establishment of mitotic spindle orientation
GO:0006606	protein import into nucleus
GO:0006839	mitochondrial transport
GO:0006888	ER to Golgi vesicle-mediated transport
GO:0006890	retrograde vesicle-mediated transport, Golgi to ER
GO:0006915	apoptotic process
GO:0007005	mitochondrion organization
GO:0007029	endoplasmic reticulum organization
GO:0007030	Golgi organization
GO:0007212	dopamine receptor signaling pathway
GO:0007283	spermatogenesis
GO:0007369	gastrulation
GO:0007417	central nervous system development
GO:0007420	brain development
GO:0007569	cell aging
GO:0007611	learning or memory
GO:0007612	learning
GO:0007625	grooming behavior
GO:0007626	locomotory behavior
GO:0008088	axon cargo transport
GO:0008306	associative learning
GO:0008340	determination of adult lifespan
GO:0008542	visual learning
GO:0009653	anatomical structure morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0016197	endosomal transport
GO:0019244	lactate biosynthetic process from pyruvate
GO:0019805	quinolinate biosynthetic process
GO:0021756	striatum development
GO:0021988	olfactory lobe development
GO:0021990	neural plate formation
GO:0022008	neurogenesis
GO:0030072	peptide hormone secretion
GO:0030073	insulin secretion
GO:0034047	regulation of protein phosphatase type 2A activity
GO:0035176	social behavior
GO:0042445	hormone metabolic process
GO:0043066	negative regulation of apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0046902	regulation of mitochondrial membrane permeability
GO:0047496	vesicle transport along microtubule
GO:0048167	regulation of synaptic plasticity
GO:0048341	paraxial mesoderm formation
GO:0048513	organ development
GO:0048666	neuron development
GO:0051402	neuron apoptotic process
GO:0051592	response to calcium ion
GO:0051881	regulation of mitochondrial membrane potential
GO:0051938	L-glutamate import
GO:0055072	iron ion homeostasis
GO:1901215	negative regulation of neuron death
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005770	late endosome
GO:0005776	autophagic vacuole
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0016234	inclusion body
GO:0030424	axon
GO:0030425	dendrite
GO:0030659	cytoplasmic vesicle membrane
GO:0043234	protein complex