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Htt
Gene Detail
 Symbol
Name
ID
Htt
huntingtin
MGI:96067
Synonyms C430023I11Rik, HD, Hdh, htt, huntingtin, IT15
Feature Type protein coding gene
Genetic Map
Chromosome 5
17.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr5:34761740-34912534 bp, + strand
From VEGA annotation of GRCm38

  150795 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1593  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Htt

Human
homologs
Human Homolog HTT, huntingtin
NCBI Gene ID 3064
neXtProt AC  NX_P42858
Human Synonyms  HD, IT15
Human Chr (Location)  4p16.3; chr4:3074681-3243960 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human HTT
Mutations,
alleles, and
phenotypes
All mutations/alleles(79) : Chemically induced (ENU)(1) Gene trapped(37) Radiation induced(5) Targeted(36)
Genomic Mutations involving Htt (6)
Incidental mutations (data from Mutagenetix , APF )
 
Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.
 
Human Diseases Modeled Using Mouse Htt (1)    Alleles Annotated to Human Diseases(16)   
Interactions
Htt interacts with 430 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (121 annotations)
Process anatomical structure morphogenesis, anterior/posterior pattern specification, ...
Component autophagic vacuole, axon, ...
Function beta-tubulin binding, diazepam binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (69)    Tissues (16)    Images (8)
Theiler Stages: 10, 12, 13, 27, 28
Assay TypeResults
RNA in situ 10
Western blot 6
RT-PCR 53
cDNA source data(127)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(141) Genomic(7) cDNA(130) Primer pair(3) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000023182 (Evidence)
Ensembl Gene ModelENSMUSG00000029104 (Evidence)
Entrez Gene15194 (Evidence)
UniGene209071
DFCITC1579594, TC1608409, TC1610164, TC1635290, TC1738204
DoTSDT.101407919, DT.101725368, DT.101739516, DT.110640863, DT.110640876, DT.110640884, DT.110640926, DT.490097, DT.91326586, DT.91354907, DT.91395227, DT.94247941
NIA Mouse Gene IndexU005492
Consensus CDS ProjectCCDS19220.1
International Mouse Knockout Project StatusHtt
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023182 VEGA Gene Model | MGI Sequence Detail 150795 C57BL/6J ±  kb
transcript OTTMUST00000056080 VEGA | MGI Sequence Detail 13215 Not Applicable 
polypeptide OTTMUSP00000026909 VEGA | MGI Sequence Detail 3120 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(5) UniProt(2)
Polymorphisms All PCR and RFLP(5) : PCR(1) RFLP(4) SNPs within 2kb(586 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR000091 Huntingtin
InterPro IPR024613 Huntingtin, middle-repeat
Protein Ontology PR:000008840 huntingtin
References (Earliest) J:3574 Goldberg YP, et al., Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease. Hum Mol Genet. 1992 Dec;1(9):669-75
(Latest) J:208633 Bhat KP, et al., Differential ubiquitination and degradation of huntingtin fragments modulated by ubiquitin-protein ligase E3A. Proc Natl Acad Sci U S A. 2014 Apr 15;111(15):5706-11
All references(299)
Disease annotation references (32)
Other
accession IDs
MGD-MRK-10687, MGI:2140822, MGI:2441905

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory