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Details for messenger / hormone: huntingtin

EndoNet ID: ENH00966

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Synonyms

  • huntingtin
  • huntington disease protein
  • HD protein

General information

  • The mutant protein in Huntington's disease huntingtin results from an expanded CAG repeat leading to a polyglutamine strand of variable length at the N-terminus. [1]
  • Defects in huntingtin are the cause of Huntington disease (HD), HD is an autosomal dominant neurodegenerative disorder. [2]
  • The mutant huntingtin influences mitochondrial complex II/III function in skeletal muscle,and the muscle may be a potential marker of disease progression in HD. [3]
  • The qualitative disease-related effect of mutant huntingtin is influenced limited by high correlations between the signatures of mice expressing normal levels of wild-type huntingtin and mice in which the wild-type protein is absent. [4]
  • Function: wild type huntigtins function is not well defined, but there are hints whereas huntingtin might be involved in intracellular transport of vesicles and organelles. [5]

Classification

Hormone function

  • metabolism
    • cell metabolism

    Chemical classification

    • hormone
      • genome-encoded
        • polyglutamine proteins

      Composition

      Sequence
      MATLEKLMK AFESLKSFQ QQQQQQQQQ 
      QQQQQQQQQ QQQQPPPPP PPPPPPQLP 
      QPPPQAQPL LPQPQPPPP PPPPPPGPA 
      VAEEPLHRP KKELSATKK DRVNHCLTI 
      CENIVAQSV RNSPEFQKL LGIAMELFL 
      LCSDDAESD VRMVADECL NKVIKALMD 
      SNLPRLQLE LYKEIKKNG APRSLRAAL 
      WRFAELAHL VRPQKCRPY LVNLLPCLT 
      RTSKRPEES VQETLAAAV PKIMASFGN 
      FANDNEIKV LLKAFIANL KSSSPTIRR 
      TAAGSAVSI CQHSRRTQY FYSWLLNVL 
      LGLLVPVED EHSTLLILG VLLTLRYLV 
      PLLQQQVKD TSLKGSFGV TRKEMEVSP 
      SAEQLVQVY ELTLHHTQH QDHNVVTGA 
      LELLQQLFR TPPPELLQT LTAVGGIGQ 
      LTAAKEESG GRSRSGSIV ELIAGGGSS 
      CSPVLSRKQ KGKVLLGEE EALEDDSES 
      RSDVSSSAL TASVKDEIS GELAASSGV 
      STPGSAGHD IITEQPRSQ HTLQADSVD 
      LASCDLTSS ATDGDEEDI LSHSSSQVS 
      AVPSDPAMD LNDGTQASS PISDSSQTT 
      TEGPDSAVT PSDSSEIVL DGTDNQYLG 
      LQIGQPQDE DEEATGILP DEASEAFRN 
      SSMALQQAH LLKNMSHCR QPSDSSVDK 
      FVLRDEATE PGDQENKPC RIKGDIGQS 
      TDDDSAPLV HCVRLLSAS FLLTGGKNV 
      LVPDRDVRV SVKALALSC VGAAVALHP 
      ESFFSKLYK VPLDTTEYP EEQYVSDIL 
      NYIDHGDPQ VRGATAILC GTLICSILS 
      RSRFHVGDW MGTIRTLTG NTFSLADCI 
      PLLRKTLKD ESSVTCKLA CTAVRNCVM 
      SLCSSSYSE LGLQLIIDV LTLRNSSYW 
      LVRTELLET LAEIDFRLV SFLEAKAEN 
      LHRGAHHYT GLLKLQERV LNNVVIHLL 
      GDEDPRVRH VAAASLIRL VPKLFYKCD 
      QGQADPVVA VARDQSSVY LKLLMHETQ 
      PPSHFSVST ITRIYRGYN LLPSITDVT 
      MENNLSRVI AAVSHELIT STTRALTFG 
      CCEALCLLS TAFPVCIWS LGWHCGVPP 
      LSASDESRK SCTVGMATM ILTLLSSAW 
      FPLDLSAHQ DALILAGNL LAASAPKSL 
      RSSWASEEE ANPAATKQE EVWPALGDR 
      ALVPMVEQL FSHLLKVIN ICAHVLDDV 
      APGPAIKAA LPSLTNPPS LSPIRRKGK 
      EKEPGEQAS VPLSPKKGS EASAASRQS 
      DTSGPVTTS KSSSLGSFY HLPSYLKLH 
      DVLKATHAN YKVTLDLQN STEKFGGFL 
      RSALDVLSQ ILELATLQD IGKCVEEIL 
      GYLKSCFSR EPMMATVCV QQLLKTLFG 
      TNLASQFDG LSSNPSKSQ GRAQRLGSS 
      SVRPGLYHY CFMAPYTHF TQALADASL 
      RNMVQAEQE NDTSGWFDV LQKVSTQLK 
      TNLTSVTKN RADKNAIHN HIRLFEPLV 
      IKALKQYTT TTCVQLQKQ VLDLLAQLV 
      QLRVNYCLL DSDQVFIGF VLKQFEYIE 
      VGQFRESEA IIPNIFFFL VLLSYERYH 
      SKQIIGIPK IIQLCDGIM ASGRKAVTH 
      AIPALQPIV HDLFVLRGT NKADAGKEL 
      ETQKEVVVS MLLRLIQYH QVLEMFILV 
      LQQCHKENE DKWKRLSRQ IADIILPML 
      AKQQMHIDS HEALGVLNT LFEILAPSS 
      LRPVDMLLR SMFVTPNTM ASVSTVQLW 
      ISGILAILR VLISQSTED IVLSRIQEL 
      SFSPYLISC TVINRLRDG DSTSTLEEH 
      SEGKQIKNL PEETFSRFL LQLVGILLE 
      DIVTKQLKV EMSEQQHTF YCQELGTLL 
      MCLIHIFKS GMFRRITAA ATRLFRSDG 
      CGGSFYTLD SLNLRARSM ITTHPALVL 
      LWCQILLLV NHTDYRWWA EVQQTPKRH 
      SLSSTKLLS PQMSGEEED SDLAAKLGM 
      CNREIVRRG ALILFCDYV CQNLHDSEH 
      LTWLIVNHI QDLISLSHE PPVQDFISA 
      VHRNSAASG LFIQAIQSR CENLSTPTM 
      LKKTLQCLE GIHLSQSGA VLTLYVDRL 
      LCTPFRVLA RMVDILACR RVEMLLAAN 
      LQSSMAQLP MEELNRIQE YLQSSGLAQ 
      RHQRLYSLL DRFRLSTMQ DSLSPSPPV 
      SSHPLDGDG HVSLETVSP DKDWYVHLV 
      KSQCWTRSD SALLEGAEL VNRIPAEDM 
      NAFMMNSEF NLSLLAPCL SLGMSEISG 
      GQKSALFEA AREVTLARV SGTVQQLPA 
      VHHVFQPEL PAEPAAYWS KLNDLFGDA 
      ALYQSLPTL ARALAQYLV VVSKLPSHL 
      HLPPEKEKD IVKFVVATL EALSWHLIH 
      EQIPLSLDL QAGLDCCCL ALQLPGLWS 
      VVSSTEFVT HACSLIYCV HFILEAVAV 
      QPGEQLLSP ERRTNTPKA ISEEEEEVD 
      PNTQNPKYI TAACEMVAE MVESLQSVL 
      ALGHKRNSG VPAFLTPLL RNIIISLAR 
      LPLVNSYTR VPPLVWKLG WSPKPGGDF 
      GTAFPEIPV EFLQEKEVF KEFIYRINT 
      LGWTSRTQF EETWATLLG VLVTQPLVM 
      EQEESPPEE DTERTQINV LAVQAITSL 
      VLSAMTVPV AGNPAVSCL EQQPRNKPL 
      KALDTRFGR KLSIIRGIV EQEIQAMVS 
      KRENIATHH LYQAWDPVP SLSPATTGA 
      LISHEKLLL QINPERELG SMSYKLGQV 
      SIHSVWLGN SITPLREEE WDEEEEEEA 
      DAPAPSSPP TSPVNSRKH RAGVDIHSC 
      SQFLLELYS RWILPSSSA RRTPAILIS 
      EVVRSLLVV SDLFTERNQ FELMYVTLT 
      ELRRVHPSE DEILAQYLV PATCKAAAV 
      LGMDKAVAE PVSRLLEST LRSSHLPSR 
      VGALHGVLY VLECDLLDD TAKQLIPVI 
      SDYLLSNLK GIAHCVNIH SQQHVLVMC 
      ATAFYLIEN YPLDVGPEF SASIIQMCG 
      VMLSGSEES TPSIIYHCA LRGLERLLL 
      SEQLSRLDA ESLVKLSVD RVNVHSPHR 
      AMAALGLML TCMYTGKEK VSPGRTSDP 
      NPAAPDSES VIVAMERVS VLFDRIRKG 
      FPCEARVVA RILPQFLDD FFPPQDIMN 
      KVIGEFLSN QQPYPQFMA TVVYKVFQT 
      LHSTGQSSM VRDWVMLSL SNFTQRAPV 
      AMATWSLSC FFVSASTSP WVAAILPHV 
      ISRMGKLEQ VDVNLFCLV ATDFYRHQI 
      EEELDRRAF QSVLEVVAA PGSPYHRLL 
      TCLRNVHKV TTC

      Links to other resources

      UniProt P42858
      Ensembl ENST00000355072
      KEGG hsa:3064
      • Anatomical structure: caudate_nucleus

      Targets

      Cell
      No records found.
      Reference