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P42859

- HD_MOUSE

UniProt

P42859 - HD_MOUSE

Protein

Huntingtin

Gene

Htt

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (01 Oct 1996)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. diazepam binding Source: MGI
    2. protein binding Source: IntAct
    3. transcription factor binding Source: MGI

    GO - Biological processi

    1. anatomical structure morphogenesis Source: MGI
    2. anterior/posterior pattern specification Source: MGI
    3. apoptotic process Source: MGI
    4. associative learning Source: MGI
    5. axon cargo transport Source: MGI
    6. brain development Source: MGI
    7. cell aging Source: MGI
    8. central nervous system development Source: MGI
    9. citrulline metabolic process Source: MGI
    10. determination of adult lifespan Source: MGI
    11. dopamine receptor signaling pathway Source: MGI
    12. endoplasmic reticulum organization Source: MGI
    13. endosomal transport Source: MGI
    14. ER to Golgi vesicle-mediated transport Source: MGI
    15. gastrulation Source: MGI
    16. grooming behavior Source: MGI
    17. hormone metabolic process Source: MGI
    18. insulin secretion Source: MGI
    19. iron ion homeostasis Source: MGI
    20. lactate biosynthetic process from pyruvate Source: MGI
    21. learning Source: MGI
    22. learning or memory Source: MGI
    23. L-glutamate import Source: MGI
    24. locomotory behavior Source: MGI
    25. mitochondrial transport Source: MGI
    26. mitochondrion organization Source: MGI
    27. negative regulation of apoptotic process Source: MGI
    28. negative regulation of neuron apoptotic process Source: MGI
    29. negative regulation of neuron death Source: MGI
    30. neural plate formation Source: MGI
    31. neurogenesis Source: MGI
    32. neuron apoptotic process Source: MGI
    33. neuron development Source: MGI
    34. olfactory lobe development Source: MGI
    35. paraxial mesoderm formation Source: MGI
    36. peptide hormone secretion Source: MGI
    37. protein import into nucleus Source: MGI
    38. quinolinate biosynthetic process Source: MGI
    39. regulation of mitochondrial membrane permeability Source: MGI
    40. regulation of mitochondrial membrane potential Source: MGI
    41. regulation of synaptic plasticity Source: MGI
    42. response to calcium ion Source: MGI
    43. social behavior Source: MGI
    44. spermatogenesis Source: MGI
    45. striatum development Source: MGI
    46. urea cycle Source: MGI
    47. vesicle transport along microtubule Source: MGI
    48. visual learning Source: MGI

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Huntingtin
    Alternative name(s):
    Huntington disease protein homolog
    Short name:
    HD protein homolog
    Gene namesi
    Name:Htt
    Synonyms:Hd, Hdh
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Unplaced

    Organism-specific databases

    MGIiMGI:96067. Htt.

    Subcellular locationi

    Cytoplasm By similarity. Nucleus By similarity
    Note: Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner.

    GO - Cellular componenti

    1. axon Source: MGI
    2. cytoplasm Source: MGI
    3. cytoplasmic membrane-bounded vesicle Source: MGI
    4. inclusion body Source: MGI
    5. mitochondrion Source: GOC
    6. nucleus Source: RefGenome

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 31193119HuntingtinPRO_0000083943Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei9 – 91N6-acetyllysineBy similarity
    Modified residuei155 – 1551N6-acetyllysineBy similarity
    Modified residuei213 – 2131N6-acetyllysineBy similarity
    Modified residuei322 – 3221N6-acetyllysineBy similarity
    Modified residuei411 – 4111PhosphoserineBy similarity
    Modified residuei421 – 4211N6-acetyllysineBy similarity
    Modified residuei1159 – 11591Phosphoserine; by CDK5By similarity
    Modified residuei1179 – 11791Phosphoserine; by CDK5By similarity
    Modified residuei1853 – 18531PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylation at Ser-1159 and Ser-1179 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity.

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP42859.
    PaxDbiP42859.
    PRIDEiP42859.

    PTM databases

    PhosphoSiteiP42859.

    Expressioni

    Tissue specificityi

    The highest level is seen throughout the brain, but it is also found in the stomach, heart, testis, adipose tissue, muscle, spleen, liver, and kidney.

    Developmental stagei

    Predominant expression in neuronal tissues at all developmental stages. In 14.5 day old embryos, it is also detected in non-neuronal tissues. This expression is down-regulated in later stages of development.

    Gene expression databases

    CleanExiMM_HTT.
    GenevestigatoriP42859.

    Interactioni

    Subunit structurei

    Interacts with PQBP1 and SETD2 By similarity. Binds SH3GLB1. Interacts with PFN1. Interacts with TPR; the interaction is inhibited by forms of Huntingtin with expanded polyglutamine stretch By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Casp3P706772EBI-5327353,EBI-1790419
    Ctnnb1Q022483EBI-5327353,EBI-397872
    Pak2Q8CIN42EBI-5327353,EBI-1559317

    Protein-protein interaction databases

    BioGridi200268. 171 interactions.
    DIPiDIP-41430N.
    IntActiP42859. 17 interactions.
    MINTiMINT-270833.
    STRINGi10090.ENSMUSP00000078945.

    Structurei

    3D structure databases

    ProteinModelPortaliP42859.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati183 – 22038HEAT 1Add
    BLAST
    Repeati225 – 26238HEAT 2Add
    BLAST
    Repeati782 – 81938HEAT 3Add
    BLAST
    Repeati882 – 92039HEAT 4Add
    BLAST
    Repeati1404 – 144138HEAT 5Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi2372 – 238110Nuclear export signalBy similarity

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi18 – 247Poly-Gln
    Compositional biasi25 – 4521Poly-ProAdd
    BLAST
    Compositional biasi49 – 5911Poly-ProAdd
    BLAST
    Compositional biasi1417 – 14204Poly-Thr
    Compositional biasi1696 – 16994Poly-Gly
    Compositional biasi2615 – 26206Poly-Glu

    Domaini

    The N-terminal Gln-rich and Pro-rich domain has great conformational flexibility and is likely to exist in a fluctuating equilibrium of alpha-helical, random coil, and extended conformations.By similarity

    Sequence similaritiesi

    Belongs to the huntingtin family.Curated
    Contains 5 HEAT repeats.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG82191.
    HOGENOMiHOG000082472.
    HOVERGENiHBG005953.
    InParanoidiP42859.
    PhylomeDBiP42859.

    Family and domain databases

    Gene3Di1.25.10.10. 4 hits.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000091. Huntingtin.
    IPR028426. Huntingtin_fam.
    IPR024613. Huntingtin_middle-repeat.
    [Graphical view]
    PANTHERiPTHR10170. PTHR10170. 1 hit.
    PfamiPF12372. DUF3652. 2 hits.
    [Graphical view]
    PRINTSiPR00375. HUNTINGTIN.
    SUPFAMiSSF48371. SSF48371. 5 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: P42859-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MATLEKLMKA FESLKSFQQQ QQQQPPPQAP PPPPPPPPQP PQPPPQGQPP     50
    PPPPPLPGPA EEPLHRPKKE LSATKKDRVN HCLTICENIV AQSLRNSPEF 100
    QKLLGIAMEL FLLCSNDAES DVRMVADECL NKVIKALMDS NLPRLQLELY 150
    KEIKKNGAPR SLRAALWRFA ELAHLVRPQK CRPYLVNLLP CLTRTSKRPE 200
    ESVQETLAAA VPKIMASFGN FANDNEIKVL LKAFIANLKS SSPTVRRTAA 250
    GSAVSICQHS RRTQYFYNWL LNVLLGLLVP MEEEHSTLLI LGVLLTLRCL 300
    VPLLQQQVKD TSLKGSFGVT RKEMEVSPST EQLVQVYELT LHHTQHQDHN 350
    VVTGALELLQ QLFRTPPPEL LQALTTPGGL GQLTLVQEEA RGRGRSGSIV 400
    ELLAGGGSSC SPVLSRKQKG KVLLGEEEAL EDDSESRSDV SSSAFAASVK 450
    SEIGGELAAS SGVSTPGSVG HDIITEQPRS QHTLQADSVD LSGCDLTSAA 500
    TDGDEEDILS HSSSQFSAVP SDPAMDLNDG TQASSPISDS SQTTTEGPDS 550
    AVTPSDSSEI VLDGADSQYL GMQIGQPQED DEEGAAGVLS GEVSDVFRNS 600
    SLALQQAHLL ERMGHSRQPS DSSIDKYVTR DEVAEASDPE SKPCRIKGDI 650
    GQPNDDDSAP LVHCVRLLSA SFLLTGEKKA LVPDRDVRVS VKALALSCIG 700
    AAVALHPESF FSRLYKVPLN TTESTEEQYV SDILNYIDHG DPQVRGATAI 750
    LCGTLVYSIL SRSRLRVGDW LGNIRTLTGN TFSLVDCIPL LQKTLKDESS 800
    VTCKLACTAV RHCVLSLCSS SYSDLGLQLL IDMLPLKNSS YWLVRTELLD 850
    TLAEIDFRLV SFLEAKAESL HRGAHHYTGF LKLQERVLNN VVIYLLGDED 900
    PRVRHVAATS LTRLVPKLFY KCDQGQADPV VAVARDQSSV YLKLLMHETQ 950
    PPSHFSVSTI TRIYRGYSLL PSITDVTMEN NLSRVVAAVS HELITSTTRA 1000
    LTFGCCEALC LLSAAFPVCT WSLGWHCGVP PLSASDESRK SCTVGMASMI 1050
    LTLLSSAWFP LDLSAHQDAL ILAGNLLAAS APKSLRSSWT SEEEANSAAT 1100
    RQEEIWPALG DRTLVPLVEQ LFSHLLKVIN ICAHVLDDVT PGPAIKAALP 1150
    SLTNPPSLSP IRRKGKEKEP GEQASTPMSP KKVGEASAAS RQSDTSGPVT 1200
    ASKSSSLGSF YHLPSYLKLH DVLKATHANY KVTLDLQNST EKFGGFLRSA 1250
    LDVLSQILEL ATLQDIGKCV EEVLGYLKSC FSREPMMATV CVQQLLKTLF 1300
    GTNLASQFDG LSSNPSKSQC RAQRLGSSSV RPGLYHYCFM APYTHFTQAL 1350
    ADASLRNMVQ AEQERDASGW FDVLQKVSAQ LKTNLTSVTK NRADKNAIHN 1400
    HIRLFEPLVI KALKQYTTTT SVQLQKQVLD LLAQLVQLRV NYCLLDSDQV 1450
    FIGFVLKQFE YIEVGQFRES EAIIPNIFFF LVLLSYERYH SKQIIGIPKI 1500
    IQLCDGIMAS GRKAVTHAIP ALQPIVHDLF VLRGTNKADA GKELETQKEV 1550
    VVSMLLRLIQ YHQVLEMFIL VLQQCHKENE DKWKRLSRQV ADIILPMLAK 1600
    QQMHIDSHEA LGVLNTLFEI LAPSSLRPVD MLLRSMFITP STMASVSTVQ 1650
    LWISGILAIL RVLISQSTED IVLCRIQELS FSPHLLSCPV INRLRGGGGN 1700
    VTLGECSEGK QKSLPEDTFS RFLLQLVGIL LEDIVTKQLK VDMSEQQHTF 1750
    YCQELGTLLM CLIHIFKSGM FRRITAAATR LFTSDGCEGS FYTLESLNAR 1800
    VRSMVPTHPA LVLLWCQILL LINHTDHRWW AEVQQTPKRH SLSCTKSLNP 1850
    QKSGEEEDSG SAAQLGMCNR EIVRRGALIL FCDYVCQNLH DSEHLTWLIV 1900
    NHIQDLISLS HEPPVQDFIS AIHRNSAASG LFIQAIQSRC ENLSTPTTLK 1950
    KTLQCLEGIH LSQSGAVLTL YVDRLLGTPF RALARMVDTL ACRRVEMLLA 2000
    ANLQSSMAQL PEEELNRIQE HLQNSGLAQR HQRLYSLLDR FRLSTVQDSL 2050
    SPLPPVTSHP LDGDGHTSLE TVSPDKDWYL QLVRSQCWTR SDSALLEGAE 2100
    LVNRIPAEDM NDFMMSSEFN LSLLAPCLSL GMSEIANGQK SPLFEAARGV 2150
    ILNRVTSVVQ QLPAVHQVFQ PFLPIEPTAY WNKLNDLLGD TTSYQSLTIL 2200
    ARALAQYLVV LSKVPAHLHL PPEKEGDTVK FVVMTVEALS WHLIHEQIPL 2250
    SLDLQAGLDC CCLALQVPGL WGVLSSPEYV THACSLIHCV RFILEAIAVQ 2300
    PGDQLLGPES RSHTPRAVRK EEVDSDIQNL SHVTSACEMV ADMVESLQSV 2350
    LALGHKRNST LPSFLTAVLK NIVISLARLP LVNSYTRVPP LVWKLGWSPK 2400
    PGGDFGTVFP EIPVEFLQEK EILKEFIYRI NTLGWTNRTQ FEETWATLLG 2450
    VLVTQPLVME QEESPPEEDT ERTQIHVLAV QAITSLVLSA MTVPVAGNPA 2500
    VSCLEQQPRN KPLKALDTRF GRKLSMIRGI VEQEIQEMVS QRENTATHHS 2550
    HQAWDPVPSL LPATTGALIS HDKLLLQINP EREPGNMSYK LGQVSIHSVW 2600
    LGNNITPLRE EEWDEEEEEE SDVPAPTSPP VSPVNSRKHR AGVDIHSCSQ 2650
    FLLELYSRWI LPSSAARRTP VILISEVVRS LLVVSDLFTE RTQFEMMYLT 2700
    LTELRRVHPS EDEILIQYLV PATCKAAAVL GMDKTVAEPV SRLLESTLRS 2750
    SHLPSQIGAL HGILYVLECD LLDDTAKQLI PVVSDYLLSN LKGIAHCVNI 2800
    HSQQHVLVMC ATAFYLMENY PLDVGPEFSA SVIQMCGVML SGSEESTPSI 2850
    IYHCALRGLE RLLLSEQLSR LDTESLVKLS VDRVNVQSPH RAMAALGLML 2900
    TCMYTGKEKA SPGRASDPSP ATPDSESVIV AMERVSVLFD RIRKGFPCEA 2950
    RVVARILPQF LDDFFPPQDV MNKVIGEFLS NQQPYPQFMA TVVYKVFQTL 3000
    HSAGQSSMVR DWVMLSLSNF TQRTPVAMAM WSLSCFLVSA STSPWVSAIL 3050
    PHVISRMGKL EQVDVNLFCL VATDFYRHQI EEEFDRRAFQ SVFEVVAAPG 3100
    SPYHRLLACL QNVHKVTTC 3119
    Length:3,119
    Mass (Da):344,690
    Last modified:October 1, 1996 - v2
    Checksum:iECA42B5916F50F4F
    GO
    Isoform Short (identifier: P42859-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1522-2001: Missing.

    Note: Cannot be explained by a simple splicing event.

    Show »
    Length:2,639
    Mass (Da):290,701
    Checksum:i1D09B89A8EBE0A71
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 21A → G in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2 – 21A → G in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2 – 21A → G in AAA91085. (PubMed:7759106)Curated
    Sequence conflicti29 – 291A → P in AAA89100. (PubMed:8009370)Curated
    Sequence conflicti116 – 1161N → D in AAA89100. (PubMed:8009370)Curated
    Sequence conflicti116 – 1161N → D in AAA91085. (PubMed:7759106)Curated
    Sequence conflicti138 – 1381M → L in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti138 – 1381M → L in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti521 – 5211S → P in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti521 – 5211S → P in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti524 – 5241A → P in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti524 – 5241A → P in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti533 – 5331A → P in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti533 – 5331A → P in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti607 – 6071A → T in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti607 – 6071A → T in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti769 – 7691D → E in AAA89100. (PubMed:8009370)Curated
    Sequence conflicti972 – 9721S → R in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti972 – 9721S → R in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti1106 – 11061W → C in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti1106 – 11061W → C in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti1240 – 12401T → N in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti1240 – 12401T → N in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti1384 – 13841N → T in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti1384 – 13841N → T in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti1827 – 18271H → Y in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti1979 – 19802PF → SS in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2062 – 20621D → G in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2062 – 20621D → G in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2570 – 25701S → N in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2570 – 25701S → N in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2866 – 28661E → V in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2866 – 28661E → V in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2877 – 28771V → G in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2877 – 28771V → G in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2882 – 28821D → G in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2882 – 28821D → G in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2887 – 28871Q → H in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2887 – 28871Q → H in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti2915 – 29151A → T in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti2915 – 29151A → T in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti3025 – 30251P → S in AAC52218. (PubMed:7647777)Curated
    Sequence conflicti3062 – 30632QV → LM in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti3062 – 30632QV → LM in AAA37800. (PubMed:8162057)Curated
    Sequence conflicti3095 – 30962VV → EE in AAA37799. (PubMed:8162057)Curated
    Sequence conflicti3095 – 30962VV → EE in AAA37800. (PubMed:8162057)Curated

    Polymorphismi

    The first poly-Pro repeat stretch differs in length by one unit (three) in Mus spretus strain compared to other strains (four). The poly-Gln region does not appear to be polymorphic, explaining the absence of a murine HD-like disorder.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1522 – 2001480Missing in isoform Short. 1 PublicationVSP_004282Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L23312 mRNA. Translation: AAA37799.1.
    L23313 mRNA. Translation: AAA37800.1.
    L28827 mRNA. Translation: AAA89100.1. Sequence problems.
    U24233 mRNA. Translation: AAC52218.1.
    AH003368 Genomic DNA. Translation: AAA91085.1.
    PIRiI49729.
    UniGeneiMm.209071.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L23312 mRNA. Translation: AAA37799.1 .
    L23313 mRNA. Translation: AAA37800.1 .
    L28827 mRNA. Translation: AAA89100.1 . Sequence problems.
    U24233 mRNA. Translation: AAC52218.1 .
    AH003368 Genomic DNA. Translation: AAA91085.1 .
    PIRi I49729.
    UniGenei Mm.209071.

    3D structure databases

    ProteinModelPortali P42859.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 200268. 171 interactions.
    DIPi DIP-41430N.
    IntActi P42859. 17 interactions.
    MINTi MINT-270833.
    STRINGi 10090.ENSMUSP00000078945.

    Chemistry

    ChEMBLi CHEMBL1250362.

    PTM databases

    PhosphoSitei P42859.

    Proteomic databases

    MaxQBi P42859.
    PaxDbi P42859.
    PRIDEi P42859.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Organism-specific databases

    MGIi MGI:96067. Htt.

    Phylogenomic databases

    eggNOGi NOG82191.
    HOGENOMi HOG000082472.
    HOVERGENi HBG005953.
    InParanoidi P42859.
    PhylomeDBi P42859.

    Miscellaneous databases

    ChiTaRSi HTT. mouse.
    NextBioi 287727.
    PROi P42859.
    SOURCEi Search...

    Gene expression databases

    CleanExi MM_HTT.
    Genevestigatori P42859.

    Family and domain databases

    Gene3Di 1.25.10.10. 4 hits.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000091. Huntingtin.
    IPR028426. Huntingtin_fam.
    IPR024613. Huntingtin_middle-repeat.
    [Graphical view ]
    PANTHERi PTHR10170. PTHR10170. 1 hit.
    Pfami PF12372. DUF3652. 2 hits.
    [Graphical view ]
    PRINTSi PR00375. HUNTINGTIN.
    SUPFAMi SSF48371. SSF48371. 5 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat."
      Lin B., Nasir J., Macdonald H., Hutchinson G., Graham R.K., Rommens J.M., Hayden M.R.
      Hum. Mol. Genet. 3:85-92(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
      Strain: C57BL/6.
      Tissue: Brain and Spleen.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form."
      Trottier Y., Devys D., Imbert G., Saudou F., An I., Lutz Y., Weber C., Agid Y., Hirsch E.C., Mandel J.-L.
      Nat. Genet. 10:104-110(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms."
      Lin B., Nasir J., Kalchman M.A., McDonald H., Zeisler J., Goldberg Y.P., Hayden M.R.
      Genomics 25:707-715(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-181.
    5. "Characterization of endophilin B1b, a brain-specific membrane-associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1."
      Modregger J., Schmidt A.A., Ritter B., Huttner W.B., Plomann M.
      J. Biol. Chem. 278:4160-4167(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SH3GLB1.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.

    Entry informationi

    Entry nameiHD_MOUSE
    AccessioniPrimary (citable) accession number: P42859
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3