P42859 (HD_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Huntingtin

Alternative name(s):
Huntington disease protein homolog
Short name=HD protein homolog

Gene names

Name:	Htt
Synonyms:	Hd, Hdh

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	3119 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in microtubule-mediated transport or vesicle function.
Subunit structure	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. Ref.5
Subcellular location	Cytoplasm By similarity. Nucleus By similarity. Note: Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner.
Tissue specificity	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 stage	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.
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.
Post-translational modification	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.
Polymorphism	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.
Sequence similarities	Belongs to the huntingtin family. Contains 5 HEAT repeats.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ER to Golgi vesicle-mediated transport Inferred from mutant phenotype PubMed 11092755. Source: MGI L-glutamate import Inferred from mutant phenotype PubMed 10932179. Source: MGI anterior/posterior pattern specification Inferred from mutant phenotype PubMed 16109169. Source: MGI axon cargo transport Inferred from mutant phenotype PubMed 15340079. Source: MGI cell aging Inferred from mutant phenotype PubMed 16403806. Source: MGI citrulline metabolic process Inferred from mutant phenotype PubMed 17213233. Source: MGI determination of adult lifespan Inferred from mutant phenotype PubMed 11062468PubMed 11152661. Source: MGI dopamine receptor signaling pathway Inferred from mutant phenotype PubMed 17715336. Source: MGI endoplasmic reticulum organization Inferred from mutant phenotype PubMed 16256944. Source: MGI endosomal transport Inferred from mutant phenotype PubMed 11092755. Source: MGI hormone metabolic process Inferred from mutant phenotype PubMed 10078572PubMed 10739639. Source: MGI insulin secretion Inferred from mutant phenotype PubMed 10078572. Source: MGI iron ion homeostasis Inferred from mutant phenotype PubMed 11092755. Source: MGI lactate biosynthetic process from pyruvate Inferred from mutant phenotype PubMed 17708681. Source: MGI locomotory behavior Inferred from mutant phenotype PubMed 11062468PubMed 11152661PubMed 11567051PubMed 12223581PubMed 12926013PubMed 16403806PubMed 17715336PubMed 7774020. Source: MGI negative regulation of neuron apoptotic process Inferred from mutant phenotype PubMed 11152661. Source: MGI neural plate formation Inferred from mutant phenotype PubMed 7774020. Source: MGI neuron apoptotic process Inferred from mutant phenotype PubMed 10082833PubMed 10932179. Source: MGI neuron development Inferred from mutant phenotype PubMed 10082833PubMed 16978870PubMed 7774020. Source: MGI olfactory lobe development Inferred from mutant phenotype PubMed 12926013. Source: MGI paraxial mesoderm formation Inferred from mutant phenotype PubMed 16109169. Source: MGI protein import into nucleus Inferred from mutant phenotype PubMed 11092755. Source: MGI quinolinate biosynthetic process Inferred from mutant phenotype PubMed 16697652. Source: MGI regulation of mitochondrial membrane permeability Inferred from mutant phenotype PubMed 15935052. Source: MGI regulation of mitochondrial membrane potential Inferred from mutant phenotype PubMed 17708681. Source: MGI regulation of synaptic plasticity Inferred from mutant phenotype PubMed 10196373PubMed 17442827. Source: MGI response to calcium ion Inferred from mutant phenotype PubMed 15935052. Source: MGI social behavior Inferred from mutant phenotype PubMed 10196365. Source: MGI spermatogenesis Inferred from mutant phenotype PubMed 11062468. Source: MGI striatum development Inferred from mutant phenotype PubMed 11030759PubMed 17715336. Source: MGI urea cycle Inferred from mutant phenotype PubMed 17213233. Source: MGI vesicle transport along microtubule Inferred from direct assay PubMed 15242649. Source: MGI visual learning Inferred from mutant phenotype PubMed 7774020. Source: MGI
Cellular_component	axon Inferred from direct assay PubMed 12115678PubMed 8757264. Source: MGI cytoplasmic membrane-bounded vesicle Inferred from direct assay PubMed 15242649. Source: MGI inclusion body Inferred from direct assay PubMed 15615787. Source: MGI nucleus Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	diazepam binding Inferred from mutant phenotype PubMed 10082833. Source: MGI
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Pak2	Q8CIN4	2	EBI-5327353,EBI-1559317

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: P42859-1)

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.

Isoform Short (identifier: P42859-2)

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

Note: Cannot be explained by a simple splicing event.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3119	3119	Huntingtin		PRO_0000083943
Regions
	Repeat	183 – 220	38	HEAT 1
	Repeat	225 – 262	38	HEAT 2
	Repeat	782 – 819	38	HEAT 3
	Repeat	882 – 920	39	HEAT 4
	Repeat	1404 – 1441	38	HEAT 5
	Motif	2372 – 2381	10	Nuclear export signal By similarity
	Compositional bias	18 – 24	7	Poly-Gln
	Compositional bias	25 – 45	21	Poly-Pro
	Compositional bias	49 – 59	11	Poly-Pro
	Compositional bias	1417 – 1420	4	Poly-Thr
	Compositional bias	1696 – 1699	4	Poly-Gly
	Compositional bias	2615 – 2620	6	Poly-Glu
Amino acid modifications
	Modified residue	9	1	N6-acetyllysine By similarity
	Modified residue	155	1	N6-acetyllysine By similarity
	Modified residue	213	1	N6-acetyllysine By similarity
	Modified residue	322	1	N6-acetyllysine By similarity
	Modified residue	398	1	Phosphoserine Ref.7
	Modified residue	411	1	Phosphoserine By similarity
	Modified residue	421	1	N6-acetyllysine By similarity
	Modified residue	1159	1	Phosphoserine; by CDK5 By similarity
	Modified residue	1179	1	Phosphoserine; by CDK5 By similarity
	Modified residue	1853	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	1522 – 2001	480	Missing in isoform Short.		VSP_004282
Experimental info
	Sequence conflict	2	1	A → G in AAA37799. Ref.1
	Sequence conflict	2	1	A → G in AAA37800. Ref.1
	Sequence conflict	2	1	A → G in AAA91085. Ref.4
	Sequence conflict	29	1	A → P in AAA89100. Ref.2
	Sequence conflict	116	1	N → D in AAA89100. Ref.2
	Sequence conflict	116	1	N → D in AAA91085. Ref.4
	Sequence conflict	138	1	M → L in AAA37799. Ref.1
	Sequence conflict	138	1	M → L in AAA37800. Ref.1
	Sequence conflict	521	1	S → P in AAA37799. Ref.1
	Sequence conflict	521	1	S → P in AAA37800. Ref.1
	Sequence conflict	524	1	A → P in AAA37799. Ref.1
	Sequence conflict	524	1	A → P in AAA37800. Ref.1
	Sequence conflict	533	1	A → P in AAA37799. Ref.1
	Sequence conflict	533	1	A → P in AAA37800. Ref.1
	Sequence conflict	607	1	A → T in AAA37799. Ref.1
	Sequence conflict	607	1	A → T in AAA37800. Ref.1
	Sequence conflict	769	1	D → E in AAA89100. Ref.2
	Sequence conflict	972	1	S → R in AAA37799. Ref.1
	Sequence conflict	972	1	S → R in AAA37800. Ref.1
	Sequence conflict	1106	1	W → C in AAA37799. Ref.1
	Sequence conflict	1106	1	W → C in AAA37800. Ref.1
	Sequence conflict	1240	1	T → N in AAA37799. Ref.1
	Sequence conflict	1240	1	T → N in AAA37800. Ref.1
	Sequence conflict	1384	1	N → T in AAA37799. Ref.1
	Sequence conflict	1384	1	N → T in AAA37800. Ref.1
	Sequence conflict	1827	1	H → Y in AAA37799. Ref.1
	Sequence conflict	1979 – 1980	2	PF → SS in AAA37799. Ref.1
	Sequence conflict	2062	1	D → G in AAA37799. Ref.1
	Sequence conflict	2062	1	D → G in AAA37800. Ref.1
	Sequence conflict	2570	1	S → N in AAA37799. Ref.1
	Sequence conflict	2570	1	S → N in AAA37800. Ref.1
	Sequence conflict	2866	1	E → V in AAA37799. Ref.1
	Sequence conflict	2866	1	E → V in AAA37800. Ref.1
	Sequence conflict	2877	1	V → G in AAA37799. Ref.1
	Sequence conflict	2877	1	V → G in AAA37800. Ref.1
	Sequence conflict	2882	1	D → G in AAA37799. Ref.1
	Sequence conflict	2882	1	D → G in AAA37800. Ref.1
	Sequence conflict	2887	1	Q → H in AAA37799. Ref.1
	Sequence conflict	2887	1	Q → H in AAA37800. Ref.1
	Sequence conflict	2915	1	A → T in AAA37799. Ref.1
	Sequence conflict	2915	1	A → T in AAA37800. Ref.1
	Sequence conflict	3025	1	P → S in AAC52218. Ref.3
	Sequence conflict	3062 – 3063	2	QV → LM in AAA37799. Ref.1
	Sequence conflict	3062 – 3063	2	QV → LM in AAA37800. Ref.1
	Sequence conflict	3095 – 3096	2	VV → EE in AAA37799. Ref.1
	Sequence conflict	3095 – 3096	2	VV → EE in AAA37800. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified October 1, 1996. Version 2. Checksum: ECA42B5916F50F4F	FASTA	3,119	344,690
	10 20 30 40 50 60 MATLEKLMKA FESLKSFQQQ QQQQPPPQAP PPPPPPPPQP PQPPPQGQPP PPPPPLPGPA 70 80 90 100 110 120 EEPLHRPKKE LSATKKDRVN HCLTICENIV AQSLRNSPEF QKLLGIAMEL FLLCSNDAES 130 140 150 160 170 180 DVRMVADECL NKVIKALMDS NLPRLQLELY KEIKKNGAPR SLRAALWRFA ELAHLVRPQK 190 200 210 220 230 240 CRPYLVNLLP CLTRTSKRPE ESVQETLAAA VPKIMASFGN FANDNEIKVL LKAFIANLKS 250 260 270 280 290 300 SSPTVRRTAA GSAVSICQHS RRTQYFYNWL LNVLLGLLVP MEEEHSTLLI LGVLLTLRCL 310 320 330 340 350 360 VPLLQQQVKD TSLKGSFGVT RKEMEVSPST EQLVQVYELT LHHTQHQDHN VVTGALELLQ 370 380 390 400 410 420 QLFRTPPPEL LQALTTPGGL GQLTLVQEEA RGRGRSGSIV ELLAGGGSSC SPVLSRKQKG 430 440 450 460 470 480 KVLLGEEEAL EDDSESRSDV SSSAFAASVK SEIGGELAAS SGVSTPGSVG HDIITEQPRS 490 500 510 520 530 540 QHTLQADSVD LSGCDLTSAA TDGDEEDILS HSSSQFSAVP SDPAMDLNDG TQASSPISDS 550 560 570 580 590 600 SQTTTEGPDS AVTPSDSSEI VLDGADSQYL GMQIGQPQED DEEGAAGVLS GEVSDVFRNS 610 620 630 640 650 660 SLALQQAHLL ERMGHSRQPS DSSIDKYVTR DEVAEASDPE SKPCRIKGDI GQPNDDDSAP 670 680 690 700 710 720 LVHCVRLLSA SFLLTGEKKA LVPDRDVRVS VKALALSCIG AAVALHPESF FSRLYKVPLN 730 740 750 760 770 780 TTESTEEQYV SDILNYIDHG DPQVRGATAI LCGTLVYSIL SRSRLRVGDW LGNIRTLTGN 790 800 810 820 830 840 TFSLVDCIPL LQKTLKDESS VTCKLACTAV RHCVLSLCSS SYSDLGLQLL IDMLPLKNSS 850 860 870 880 890 900 YWLVRTELLD TLAEIDFRLV SFLEAKAESL HRGAHHYTGF LKLQERVLNN VVIYLLGDED 910 920 930 940 950 960 PRVRHVAATS LTRLVPKLFY KCDQGQADPV VAVARDQSSV YLKLLMHETQ PPSHFSVSTI 970 980 990 1000 1010 1020 TRIYRGYSLL PSITDVTMEN NLSRVVAAVS HELITSTTRA LTFGCCEALC LLSAAFPVCT 1030 1040 1050 1060 1070 1080 WSLGWHCGVP PLSASDESRK SCTVGMASMI LTLLSSAWFP LDLSAHQDAL ILAGNLLAAS 1090 1100 1110 1120 1130 1140 APKSLRSSWT SEEEANSAAT RQEEIWPALG DRTLVPLVEQ LFSHLLKVIN ICAHVLDDVT 1150 1160 1170 1180 1190 1200 PGPAIKAALP SLTNPPSLSP IRRKGKEKEP GEQASTPMSP KKVGEASAAS RQSDTSGPVT 1210 1220 1230 1240 1250 1260 ASKSSSLGSF YHLPSYLKLH DVLKATHANY KVTLDLQNST EKFGGFLRSA LDVLSQILEL 1270 1280 1290 1300 1310 1320 ATLQDIGKCV EEVLGYLKSC FSREPMMATV CVQQLLKTLF GTNLASQFDG LSSNPSKSQC 1330 1340 1350 1360 1370 1380 RAQRLGSSSV RPGLYHYCFM APYTHFTQAL ADASLRNMVQ AEQERDASGW FDVLQKVSAQ 1390 1400 1410 1420 1430 1440 LKTNLTSVTK NRADKNAIHN HIRLFEPLVI KALKQYTTTT SVQLQKQVLD LLAQLVQLRV 1450 1460 1470 1480 1490 1500 NYCLLDSDQV FIGFVLKQFE YIEVGQFRES EAIIPNIFFF LVLLSYERYH SKQIIGIPKI 1510 1520 1530 1540 1550 1560 IQLCDGIMAS GRKAVTHAIP ALQPIVHDLF VLRGTNKADA GKELETQKEV VVSMLLRLIQ 1570 1580 1590 1600 1610 1620 YHQVLEMFIL VLQQCHKENE DKWKRLSRQV ADIILPMLAK QQMHIDSHEA LGVLNTLFEI 1630 1640 1650 1660 1670 1680 LAPSSLRPVD MLLRSMFITP STMASVSTVQ LWISGILAIL RVLISQSTED IVLCRIQELS 1690 1700 1710 1720 1730 1740 FSPHLLSCPV INRLRGGGGN VTLGECSEGK QKSLPEDTFS RFLLQLVGIL LEDIVTKQLK 1750 1760 1770 1780 1790 1800 VDMSEQQHTF YCQELGTLLM CLIHIFKSGM FRRITAAATR LFTSDGCEGS FYTLESLNAR 1810 1820 1830 1840 1850 1860 VRSMVPTHPA LVLLWCQILL LINHTDHRWW AEVQQTPKRH SLSCTKSLNP QKSGEEEDSG 1870 1880 1890 1900 1910 1920 SAAQLGMCNR EIVRRGALIL FCDYVCQNLH DSEHLTWLIV NHIQDLISLS HEPPVQDFIS 1930 1940 1950 1960 1970 1980 AIHRNSAASG LFIQAIQSRC ENLSTPTTLK KTLQCLEGIH LSQSGAVLTL YVDRLLGTPF 1990 2000 2010 2020 2030 2040 RALARMVDTL ACRRVEMLLA ANLQSSMAQL PEEELNRIQE HLQNSGLAQR HQRLYSLLDR 2050 2060 2070 2080 2090 2100 FRLSTVQDSL SPLPPVTSHP LDGDGHTSLE TVSPDKDWYL QLVRSQCWTR SDSALLEGAE 2110 2120 2130 2140 2150 2160 LVNRIPAEDM NDFMMSSEFN LSLLAPCLSL GMSEIANGQK SPLFEAARGV ILNRVTSVVQ 2170 2180 2190 2200 2210 2220 QLPAVHQVFQ PFLPIEPTAY WNKLNDLLGD TTSYQSLTIL ARALAQYLVV LSKVPAHLHL 2230 2240 2250 2260 2270 2280 PPEKEGDTVK FVVMTVEALS WHLIHEQIPL SLDLQAGLDC CCLALQVPGL WGVLSSPEYV 2290 2300 2310 2320 2330 2340 THACSLIHCV RFILEAIAVQ PGDQLLGPES RSHTPRAVRK EEVDSDIQNL SHVTSACEMV 2350 2360 2370 2380 2390 2400 ADMVESLQSV LALGHKRNST LPSFLTAVLK NIVISLARLP LVNSYTRVPP LVWKLGWSPK 2410 2420 2430 2440 2450 2460 PGGDFGTVFP EIPVEFLQEK EILKEFIYRI NTLGWTNRTQ FEETWATLLG VLVTQPLVME 2470 2480 2490 2500 2510 2520 QEESPPEEDT ERTQIHVLAV QAITSLVLSA MTVPVAGNPA VSCLEQQPRN KPLKALDTRF 2530 2540 2550 2560 2570 2580 GRKLSMIRGI VEQEIQEMVS QRENTATHHS HQAWDPVPSL LPATTGALIS HDKLLLQINP 2590 2600 2610 2620 2630 2640 EREPGNMSYK LGQVSIHSVW LGNNITPLRE EEWDEEEEEE SDVPAPTSPP VSPVNSRKHR 2650 2660 2670 2680 2690 2700 AGVDIHSCSQ FLLELYSRWI LPSSAARRTP VILISEVVRS LLVVSDLFTE RTQFEMMYLT 2710 2720 2730 2740 2750 2760 LTELRRVHPS EDEILIQYLV PATCKAAAVL GMDKTVAEPV SRLLESTLRS SHLPSQIGAL 2770 2780 2790 2800 2810 2820 HGILYVLECD LLDDTAKQLI PVVSDYLLSN LKGIAHCVNI HSQQHVLVMC ATAFYLMENY 2830 2840 2850 2860 2870 2880 PLDVGPEFSA SVIQMCGVML SGSEESTPSI IYHCALRGLE RLLLSEQLSR LDTESLVKLS 2890 2900 2910 2920 2930 2940 VDRVNVQSPH RAMAALGLML TCMYTGKEKA SPGRASDPSP ATPDSESVIV AMERVSVLFD 2950 2960 2970 2980 2990 3000 RIRKGFPCEA RVVARILPQF LDDFFPPQDV MNKVIGEFLS NQQPYPQFMA TVVYKVFQTL 3010 3020 3030 3040 3050 3060 HSAGQSSMVR DWVMLSLSNF TQRTPVAMAM WSLSCFLVSA STSPWVSAIL PHVISRMGKL 3070 3080 3090 3100 3110 EQVDVNLFCL VATDFYRHQI EEEFDRRAFQ SVFEVVAAPG SPYHRLLACL QNVHKVTTC
	Isoform Short [UniParc]. Checksum: 1D09B89A8EBE0A71	FASTA	2,639	290,701
	10 20 30 40 50 60 MATLEKLMKA FESLKSFQQQ QQQQPPPQAP PPPPPPPPQP PQPPPQGQPP PPPPPLPGPA 70 80 90 100 110 120 EEPLHRPKKE LSATKKDRVN HCLTICENIV AQSLRNSPEF QKLLGIAMEL FLLCSNDAES 130 140 150 160 170 180 DVRMVADECL NKVIKALMDS NLPRLQLELY KEIKKNGAPR SLRAALWRFA ELAHLVRPQK 190 200 210 220 230 240 CRPYLVNLLP CLTRTSKRPE ESVQETLAAA VPKIMASFGN FANDNEIKVL LKAFIANLKS 250 260 270 280 290 300 SSPTVRRTAA GSAVSICQHS RRTQYFYNWL LNVLLGLLVP MEEEHSTLLI LGVLLTLRCL 310 320 330 340 350 360 VPLLQQQVKD TSLKGSFGVT RKEMEVSPST EQLVQVYELT LHHTQHQDHN VVTGALELLQ 370 380 390 400 410 420 QLFRTPPPEL LQALTTPGGL GQLTLVQEEA RGRGRSGSIV ELLAGGGSSC SPVLSRKQKG 430 440 450 460 470 480 KVLLGEEEAL EDDSESRSDV SSSAFAASVK SEIGGELAAS SGVSTPGSVG HDIITEQPRS 490 500 510 520 530 540 QHTLQADSVD LSGCDLTSAA TDGDEEDILS HSSSQFSAVP SDPAMDLNDG TQASSPISDS 550 560 570 580 590 600 SQTTTEGPDS AVTPSDSSEI VLDGADSQYL GMQIGQPQED DEEGAAGVLS GEVSDVFRNS 610 620 630 640 650 660 SLALQQAHLL ERMGHSRQPS DSSIDKYVTR DEVAEASDPE SKPCRIKGDI GQPNDDDSAP 670 680 690 700 710 720 LVHCVRLLSA SFLLTGEKKA LVPDRDVRVS VKALALSCIG AAVALHPESF FSRLYKVPLN 730 740 750 760 770 780 TTESTEEQYV SDILNYIDHG DPQVRGATAI LCGTLVYSIL SRSRLRVGDW LGNIRTLTGN 790 800 810 820 830 840 TFSLVDCIPL LQKTLKDESS VTCKLACTAV RHCVLSLCSS SYSDLGLQLL IDMLPLKNSS 850 860 870 880 890 900 YWLVRTELLD TLAEIDFRLV SFLEAKAESL HRGAHHYTGF LKLQERVLNN VVIYLLGDED 910 920 930 940 950 960 PRVRHVAATS LTRLVPKLFY KCDQGQADPV VAVARDQSSV YLKLLMHETQ PPSHFSVSTI 970 980 990 1000 1010 1020 TRIYRGYSLL PSITDVTMEN NLSRVVAAVS HELITSTTRA LTFGCCEALC LLSAAFPVCT 1030 1040 1050 1060 1070 1080 WSLGWHCGVP PLSASDESRK SCTVGMASMI LTLLSSAWFP LDLSAHQDAL ILAGNLLAAS 1090 1100 1110 1120 1130 1140 APKSLRSSWT SEEEANSAAT RQEEIWPALG DRTLVPLVEQ LFSHLLKVIN ICAHVLDDVT 1150 1160 1170 1180 1190 1200 PGPAIKAALP SLTNPPSLSP IRRKGKEKEP GEQASTPMSP KKVGEASAAS RQSDTSGPVT 1210 1220 1230 1240 1250 1260 ASKSSSLGSF YHLPSYLKLH DVLKATHANY KVTLDLQNST EKFGGFLRSA LDVLSQILEL 1270 1280 1290 1300 1310 1320 ATLQDIGKCV EEVLGYLKSC FSREPMMATV CVQQLLKTLF GTNLASQFDG LSSNPSKSQC 1330 1340 1350 1360 1370 1380 RAQRLGSSSV RPGLYHYCFM APYTHFTQAL ADASLRNMVQ AEQERDASGW FDVLQKVSAQ 1390 1400 1410 1420 1430 1440 LKTNLTSVTK NRADKNAIHN HIRLFEPLVI KALKQYTTTT SVQLQKQVLD LLAQLVQLRV 1450 1460 1470 1480 1490 1500 NYCLLDSDQV FIGFVLKQFE YIEVGQFRES EAIIPNIFFF LVLLSYERYH SKQIIGIPKI 1510 1520 1530 1540 1550 1560 IQLCDGIMAS GRKAVTHAIP ANLQSSMAQL PEEELNRIQE HLQNSGLAQR HQRLYSLLDR 1570 1580 1590 1600 1610 1620 FRLSTVQDSL SPLPPVTSHP LDGDGHTSLE TVSPDKDWYL QLVRSQCWTR SDSALLEGAE 1630 1640 1650 1660 1670 1680 LVNRIPAEDM NDFMMSSEFN LSLLAPCLSL GMSEIANGQK SPLFEAARGV ILNRVTSVVQ 1690 1700 1710 1720 1730 1740 QLPAVHQVFQ PFLPIEPTAY WNKLNDLLGD TTSYQSLTIL ARALAQYLVV LSKVPAHLHL 1750 1760 1770 1780 1790 1800 PPEKEGDTVK FVVMTVEALS WHLIHEQIPL SLDLQAGLDC CCLALQVPGL WGVLSSPEYV 1810 1820 1830 1840 1850 1860 THACSLIHCV RFILEAIAVQ PGDQLLGPES RSHTPRAVRK EEVDSDIQNL SHVTSACEMV 1870 1880 1890 1900 1910 1920 ADMVESLQSV LALGHKRNST LPSFLTAVLK NIVISLARLP LVNSYTRVPP LVWKLGWSPK 1930 1940 1950 1960 1970 1980 PGGDFGTVFP EIPVEFLQEK EILKEFIYRI NTLGWTNRTQ FEETWATLLG VLVTQPLVME 1990 2000 2010 2020 2030 2040 QEESPPEEDT ERTQIHVLAV QAITSLVLSA MTVPVAGNPA VSCLEQQPRN KPLKALDTRF 2050 2060 2070 2080 2090 2100 GRKLSMIRGI VEQEIQEMVS QRENTATHHS HQAWDPVPSL LPATTGALIS HDKLLLQINP 2110 2120 2130 2140 2150 2160 EREPGNMSYK LGQVSIHSVW LGNNITPLRE EEWDEEEEEE SDVPAPTSPP VSPVNSRKHR 2170 2180 2190 2200 2210 2220 AGVDIHSCSQ FLLELYSRWI LPSSAARRTP VILISEVVRS LLVVSDLFTE RTQFEMMYLT 2230 2240 2250 2260 2270 2280 LTELRRVHPS EDEILIQYLV PATCKAAAVL GMDKTVAEPV SRLLESTLRS SHLPSQIGAL 2290 2300 2310 2320 2330 2340 HGILYVLECD LLDDTAKQLI PVVSDYLLSN LKGIAHCVNI HSQQHVLVMC ATAFYLMENY 2350 2360 2370 2380 2390 2400 PLDVGPEFSA SVIQMCGVML SGSEESTPSI IYHCALRGLE RLLLSEQLSR LDTESLVKLS 2410 2420 2430 2440 2450 2460 VDRVNVQSPH RAMAALGLML TCMYTGKEKA SPGRASDPSP ATPDSESVIV AMERVSVLFD 2470 2480 2490 2500 2510 2520 RIRKGFPCEA RVVARILPQF LDDFFPPQDV MNKVIGEFLS NQQPYPQFMA TVVYKVFQTL 2530 2540 2550 2560 2570 2580 HSAGQSSMVR DWVMLSLSNF TQRTPVAMAM WSLSCFLVSA STSPWVSAIL PHVISRMGKL 2590 2600 2610 2620 2630 EQVDVNLFCL VATDFYRHQI EEEFDRRAFQ SVFEVVAAPG SPYHRLLACL QNVHKVTTC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Mouse Huntington's disease gene homolog (Hdh)." Barnes G.T., Duyao M.P., Ambrose C.M., McNeil S., Persichetti F., Srinidhi J., Gusella J.F., Macdonald M.E. Somat. Cell Mol. Genet. 20:87-97(1994) [PubMed] [Europe PMC] [Abstract] 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]	"Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations." Munton R.P., Tweedie-Cullen R., Livingstone-Zatchej M., Weinandy F., Waidelich M., Longo D., Gehrig P., Potthast F., Rutishauser D., Gerrits B., Panse C., Schlapbach R., Mansuy I.M. Mol. Cell. Proteomics 6:283-293(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1853, MASS SPECTROMETRY. Tissue: Brain cortex.
[7]	"Large-scale phosphorylation analysis of mouse liver." Villen J., Beausoleil S.A., Gerber S.A., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 104:1488-1493(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-398, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00271166. IPI00623970.
PIR	I49729.
RefSeq	NP_034544.1. NM_010414.2.
UniGene	Mm.209071.
3D structure databases
ProteinModelPortal	P42859.
SMR	P42859. Positions 108-156, 184-218, 890-915.
ModBase	Search...
Protein-protein interaction databases
IntAct	P42859. 1 interaction.
MINT	MINT-270833.
STRING	10090.ENSMUSP00000078945.
PTM databases
PhosphoSite	P42859.
Proteomic databases
PaxDb	P42859.
PRIDE	P42859.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	15194.
KEGG	mmu:15194.
Organism-specific databases
CTD	3064.
MGI	MGI:96067. Htt.
Phylogenomic databases
eggNOG	NOG82191.
HOGENOM	HOG000082472.
HOVERGEN	HBG005953.
InParanoid	P42859.
KO	K04533.
OrthoDB	EOG4RNB7G.
Gene expression databases
CleanEx	MM_HTT.
Genevestigator	P42859.
GermOnline	ENSMUSG00000029104. Mus musculus.
Family and domain databases
Gene3D	1.25.10.10. 4 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000091. Huntingtin. IPR024613. Huntingtin_middle-repeat. [Graphical view]
PANTHER	PTHR10170. PTHR10170. 1 hit.
Pfam	PF12372. DUF3652. 2 hits. [Graphical view]
PRINTS	PR00375. HUNTINGTIN.
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
PROSITE	PS50077. HEAT_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL1250362.
ChiTaRS	HTT. mouse.
NextBio	287727.
SOURCE	Search...

Entry information

Entry name

HD_MOUSE

Accession

Primary (citable) accession number: P42859

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	October 1, 1996
Last modified:	May 29, 2013
This is version 120 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program