InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Htt

Summary

InnateDB Gene

IDBG-156033.6

Last Modified

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

Gene Symbol

Htt

Gene Name

huntingtin

Synonyms

AI256365; C430023I11Rik; Hd; Hdh; IT15

Species

Mus musculus

Ensembl Gene

ENSMUSG00000029104

Encoded Proteins

IDBP-156035

huntingtin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000197386:
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008]
Huntingtin is a disease gene linked to Huntington\'s disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington\'s disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5\' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:34761740-34912534

Strand

Forward strand

Band

Transcripts

ENSMUST00000080036	ENSMUSP00000078945
ENSMUST00000148953
ENSMUST00000123755
ENSMUST00000156490
ENSMUST00000135039
ENSMUST00000124272

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 187 experimentally validated interaction(s) in this database.
They are also associated with 131 interaction(s) predicted by orthology.

Experimentally validated
Total	187 [view]
Protein-Protein	184 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	131 [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:0046825	regulation of protein export from nucleus
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: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

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000197386

View Gene Order

ENSBTAG00000001506

Not yet available

Pathways

NETPATH

REACTOME

KEGG

mmu05016

Huntington's disease pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

NetPath_4

EGFR1 pathway

REACTOME

KEGG

hsa05016

Huntington's disease pathway

INOH

PID NCI

p53downstreampathway

Direct p53 effectors

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.209071 Mm.426288

RefSeq

NM_010414 XM_006503744

OMIM

CCDS

CCDS19220

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas