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Gene id 3064
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol HTT   Gene   UCSC   Ensembl
Aliases HD, IT15, LOMARS
Gene name huntingtin
Alternate names huntingtin, huntington disease protein,
Gene location 4p16.3 (3074680: 3243959)     Exons: 67     NC_000004.12
Gene summary(Entrez) 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 p

Protein Summary
Protein general information P42858  

Name: Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N terminal fragment]

Length: 3142  Mass: 347603

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 cerebe

Sequence MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQAQPLLPQPQPPPPPPPPP
PGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPEFQKLLGIAMELFLLCSDDAESDVRMVADEC
LNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQ
ETLAAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLV
PVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVYELTLHHTQHQDHNVVTG
ALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSIVELIAGGGSSCSPVLSRKQKGKVLLGEEEA
LEDDSESRSDVSSSALTASVKDEISGELAASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGD
EEDILSHSSSQVSAVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQD
EDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGDQENKPCRIKGDIGQSTD
DDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESFFSKLYKVPLDTTEYPEEQYV
SDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKL
ACTAVRNCVMSLCSSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGL
LKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQSSVYLKLLMHETQPPSHF
SVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALCLLSTAFPVCIWSLGWHCGVP
PLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEV
WPALGDRALVPMVEQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSP
KKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQNSTEKFGGFLRSALDVLS
QILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDGLSSNPSKSQGRAQRLGSSSV
RPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLF
EPLVIKALKQYTTTTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFF
LVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKADAGKELETQKEVVVSML
LRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSSLRPVD
MLLRSMFVTPNTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEE
HSEGKQIKNLPEETFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAAT
RLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTPKRHSLSSTKLLSPQMSG
EEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAVHRNSAAS
GLFIQAIQSRCENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQ
SSMAQLPMEELNRIQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWY
VHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQKSALFEAAREVTLAR
VSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLVVVSKLPSHLHLPPEKEKDIV
KFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQ
LLSPERRTNTPKAISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLA
RLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGWTSRTQFEETWATLLGVL
VTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAGNPAVSCLEQQPRNKPLKALDTRFGRKLSII
RGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLG
NSITPLREEEWDEEEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEV
VRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKAVAEPVSRLLESTLRSSH
LPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPLDVGPE
FSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTC
MYTGKEKVSPGRTSDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGE
FLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFFVSASTSPWVAAILPH
VISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLLTCLRNVHKVTTC
Structural information
Interpro:  IPR011989  IPR016024  IPR000091  IPR028426  IPR024613  

PDB:  		 2D3X 2LD0 2LD2 3IO4 3IO6 3IOR 3IOT 3IOU 3IOV 3IOW 3LRH 4FE8 4FEB 4FEC 4FED 4RAV 6EZ8 6N8C
PDBsum:   2D3X 2LD0 2LD2 3IO4 3IO6 3IOR 3IOT 3IOU 3IOV 3IOW 3LRH 4FE8 4FEB 4FEC 4FED 4RAV 6EZ8 6N8C

DIP:  
32492
MINT:  
STRING:   ENSP00000347184
Other Databases GeneCards:  HTT  Malacards:  HTT

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:2000479 regulation of cAMP-depend
ent protein kinase activi
ty
 IMP biological process
GO:1905289 regulation of CAMKK-AMPK
signaling cascade
 IMP biological process
GO:0005515 protein binding
 IPI molecular function
GO:1903599 positive regulation of au
tophagy of mitochondrion
 IMP biological process
GO:0019900 kinase binding
 IPI molecular function
GO:1904504 positive regulation of li
pophagy
 IMP biological process
GO:1905337 positive regulation of ag
grephagy
 IMP biological process
GO:0045724 positive regulation of ci
lium assembly
 IMP biological process
GO:0005814 centriole
 IDA cellular component
GO:0099111 microtubule-based transpo
rt
 IBA biological process
GO:0005737 cytoplasm
 IBA cellular component
GO:0031587 positive regulation of in
ositol 1,4,5-trisphosphat
e-sensitive calcium-relea
se channel activity
 IDA biological process
GO:0044325 ion channel binding
 IDA molecular function
GO:0005737 cytoplasm
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005769 early endosome
 IDA cellular component
GO:0048471 perinuclear region of cyt
oplasm
 ISS cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0031410 cytoplasmic vesicle
 IEA cellular component
GO:0005768 endosome
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0006915 apoptotic process
 IEA biological process
GO:0042297 vocal learning
 IMP biological process
GO:0043666 regulation of phosphoprot
ein phosphatase activity
 IMP biological process
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005776 autophagosome
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005769 early endosome
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0005829 cytosol
 IDA cellular component
GO:0043065 positive regulation of ap
optotic process
 IDA biological process
GO:0005737 cytoplasm
 IMP cellular component
GO:0032991 protein-containing comple
x
 IMP cellular component
GO:0005634 nucleus
 IMP cellular component
GO:0048471 perinuclear region of cyt
oplasm
 IMP cellular component
GO:0016234 inclusion body
 IMP cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0031648 protein destabilization
 IMP biological process
GO:0031072 heat shock protein bindin
g
 IPI molecular function
GO:0045505 dynein intermediate chain
binding
 IDA molecular function
GO:0032991 protein-containing comple
x
 IDA cellular component
GO:0030659 cytoplasmic vesicle membr
ane
 IDA cellular component
GO:0030425 dendrite
 IDA cellular component
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0005783 endoplasmic reticulum
 IDA cellular component
GO:0005776 autophagosome
 IDA cellular component
GO:0005770 late endosome
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0048487 beta-tubulin binding
 IDA molecular function
GO:0005737 cytoplasm
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0030424 axon
 IDA cellular component
GO:0005829 cytosol
 IDA cellular component
GO:0002039 p53 binding
 IPI molecular function
GO:0000132 establishment of mitotic
spindle orientation
 IMP biological process
GO:0005522 profilin binding
 IPI molecular function
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
 IMP biological process
GO:0034452 dynactin binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0047496 vesicle transport along m
icrotubule
 IMP biological process
GO:0007030 Golgi organization
 IMP biological process
GO:0006890 retrograde vesicle-mediat
ed transport, Golgi to en
doplasmic reticulum
 IMP biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0099523 presynaptic cytosol
 IDA cellular component
GO:0099523 presynaptic cytosol
 IDA cellular component
GO:0099523 presynaptic cytosol
 IDA cellular component
GO:0099524 postsynaptic cytosol
 IDA cellular component

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa05016Huntington disease

Diseases

Expand All | Collapse All
Associated diseases References
Huntington disease KEGG:H00059
Huntington disease KEGG:H00059
Huntington's disease PMID:25062733
Huntington's disease PMID:17940007
Huntington's disease PMID:8898202
Huntington's disease PMID:8242074
Huntington's disease PMID:21163446
Huntington's disease PMID:26938440
Parkinson's disease PMID:26192120
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Unexplained infertility MIK: 25753583

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
25753583 Unexplaine
d infertil
ity
46 (17 fertile
men, 29 male pa
tients)
 Male infertility Microarray
 Show abstract