| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: May play a role in microtubule-mediated transport or vesicle function. SUBUNIT: Interacts with PQBP1 and SETD2. Binds SH3GLB1 (By similarity). Interacts with PFN1 (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). TISSUE SPECIFICITY: Expressed to a high degree in all the regions of the brain of adults and in meiotic cells of the testis. In addition, very low levels are detected in various non-neuronal tissues (heart, muscle, liver, lung and kidney). DEVELOPMENTAL STAGE: Identified at high levels in neuronal tissues of embryos as early as day 14.5. This expression remains constant in all further development stages (up to the adult). On the other hand the expression in non-neuronal tissues is down-regulated from stage 17.5 day old embryos. DOMAIN: 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). PTM: Phosphorylation at Ser-1150 and Ser-1170 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity. POLYMORPHISM: The poly-Gln region does not appear to be polymorphic, explaining the absence of a rodent HD-like disorder. SIMILARITY: Belongs to the huntingtin family. SIMILARITY: Contains 10 HEAT repeats. GENE SYNONYMS:Htt Hd Hdh. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 3110 AA; 343762 MW; 33C357E8FC141550 CRC64;
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| biopax3:xref | |
| biopax3:displayName |
HD_RAT
|
| biopax3:name |
HD protein homolog,
Htt,
Huntington disease protein homolog
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:HD_RAT_1,
urn:biopax:ModificationFeature:HD_RAT_2,
urn:biopax:ModificationFeature:HD_RAT_3,
urn:biopax:ModificationFeature:HD_RAT_4,
urn:biopax:ModificationFeature:HD_RAT_5,
urn:biopax:ModificationFeature:HD_RAT_6,
urn:biopax:ModificationFeature:HD_RAT_7,
urn:biopax:ModificationFeature:HD_RAT_8,
urn:biopax:ModificationFeature:HD_RAT_9
|
| biopax3:organism | |
| biopax3:sequence |
MKAFESLKSFQQQQQQQQPPPQPPPPPPPPPQPPQPPPQGQPPPPPPLPGPAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSLRNSPEFQKLLGIAMELFLLCSDDASRRRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTVRRTAAGSAVSICQHSRRTQYFYNWLLNVLLGLLVPMEEDHPTLLILGVLLTLRCLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVYELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQALTTPGGLGQLTLVREEAGGRGRSGSIVELLAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSAFAASVKSEIGGELAASSSGVSTPGSVGHDIITEQPRSQHTLQADSVDLSGCDLTSAATDGDEEDILSHSSSQFSAVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGADSQYLGVQIGQPQEEDREAAGVLSGEVSDVFRNSSLALQQAHLLERMGHSRQPSDSSVDKFVSKDEVAEAGDPESKPCRIKGDIGQPNDDDSAPLVHCVRLLSASFLLTGEKKALVPDRDVRVSVKALALSCIGAAVALHPESFFSKLYKVPLSTMESTEEQYVSDILNYIDHGDPQVRGATAILCGTLVYSILSRSRLRVGDWLGTIRALTGNTFSLVDCIPLLQKTLKDESSVTCKLACTAVRHCVLSLCSSSYSDLGLQLLIDMLPLKNSSYWLVRTELLETLAEIDFRLVSFLEAKAESLHRGPHHYTGFLKLQERVLNNVVIYLLGDEDPRVRHVAATTLTRLVPKLFYKCDQGQADPVEAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYSLLPSVTDVTMENNLSRVVAAVSHELITSTTRALTFGCCEALCVLSAAFPVCTWSLGWHCGVPPLSASDESRKSCTVGMASMILTLLSSAWFPLDLSAIQDALILAGNLLAASAPKSLRSSWASEEEGSSAATRQEEIWPALGDRTLVPMVEQLFSHLLKVINICAHVLDDETPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQTSTPMSPKKGGEASTASRQSDTSGPVTASKSSSLGSFYHLPSYLRLHDVLKATHANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEVLGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDGLSSNPSKSQCRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQADQEHDASGWFDVLQKVSAQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTTSVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQVADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFITPSTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCPVINRLRDGDSNPTLGERSRGKQVKNLPEDTFSRFLLQLVGILLEDIVTKQLKVDMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFTSDGCEGSFYTLDSLNARVRAMVPTHPALVLLWCQILLLINHTDHRWWAEVQQTPKRHSLSCTKSLNPQISAEEDSGSAAQLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAIHRNSAASGLFIQAIQSRCENLSTPTTLKKTLQCLEGIHLSQSGAVLTLYVDRLLGTPFRALARMVDTLACRRVEMLLAANLQSSMAQLPEEELNRIQEHLQNTGLAQRHQRLYSLLDRFRLSTVQDSLSPLPPVTSHPLDGDGHTSLETVNPDKDWYLQLVRSQCWTRSDSALLEGAELVNRIPAEDMSDFMMSSEFNLSLFAPCLSLGMSEIAGSQKSPLFEAARRVTLDRVTNVVQQLPAVHQVFQPFLPTEPTAYWSKLNDLFGDTTSYQSLTTLARALAQYLVVLSKVPAPLHLPPEKEGHTVKFVVMTLEALSWHLIHEQIPLSLDLQAGLDCCCLALQVPGLWGVLSSPEYVTHTCSLIHCVRFILEAIAVQPGDQLLGPESRSHTPRAVRKEEVDSDIQNLSHITSACEMVADMVESLQSVLALGHKRNSTLPSFLTAVLKNIVVSLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTVFPEIPVEFLQEKEVLKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQIHVLAVQAITSLVLSAMAVPVAGNPAVSCLEQQPRNKPLKALDTRFGRKLSMIRGIVEQEIQEMVSQRENTATHHSHQAWDPVPSLLPATTGALISHDKLLLQINSEREPGNMSYKLGQVSIHSVWLGNNITPLREEEWDEEEEEEADAPAPTSPPVSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSAARRTPVILISEVVRSLLVVSDLFTDVPQFEMMYLTLTELRRVHPSEDEILIQYLVPATCKAAAVLGMDKTVAEPVSRLLESTLRSTHLPSQIGALHGILYVLECDLLDDTVKQLIPVVSDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLMENYPLDVGPEFSASVIQMCGVMLSGSEESTPSVIYHCALRGLERLLLSEQLSRLDTESLVKLSVDRVNVQSPHRAMAALGLMLTCMYTGKEKASPGRASDPSPATPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDVMNKVIGEFLSNQQPYPQFMATVVYKVFQTLHSAGQSSMVRDWVMLSLSNFTQRTPVAMAMWSLSCFLVSASTSPWVSAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEEFDRRAFQSVFEVVAAPGSPYHRLLACLQNVHKVTAC
|
| biopax3:standardName |
Huntingtin
|