Gene Page:HTT

概括?
GeneID 3064
Symbol HTT
同义词 HD|IT15
描述 亨廷顿
参考 MIM:613004|HGNC:HGNC:4851|Ensembl:ENSG00000197386|HPRD：00883|Vega:OTTHUMG00000159916
Gene type protein-coding
Map location 4p16.3
Pascal p-value 0.59
Sherlock P值 0.915
Fetal beta 0.017
eGene 额叶皮质BA9
迈尔斯的顺式和跨性别
Support COMPOSITESET
Darnell FMRP targets
Ascano FMRP targets

数据源中的基因
Gene set name Method of gene set 描述 Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur 高通量文献搜索 Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
文学 高通量文献搜索 Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophrenias Click to show details
Network 人蛋白蛋白质相互作用网络中核心基因的最短路径距离 Contribution to shortest path in PPI network: 6.0206

第一节遗传学和表观遗传学注释

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
HTT chr4 3215762 G A NM_002111 . silent 精神分裂症 DNM：Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs10497672 0 HTT 3064 0.02 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

脚注：
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

脚注：
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
DIO2 0.76 0.69
SLC1A3 0.73 0.69
GLUL 0.70 0.56
SLCO1C1 0.68 0.60
C4orf19 0.67 0.55
MERTK 0.65 0.56
ACSS3 0.64 0.57
PPP1R3C 0.64 0.59
赫夫 0.63 0.50
LYN 0.63 0.63
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
TSPAN2 -0.33 -0.34
SNTG2 -0.31 -0.37
RAB33A -0.30 -0.30
AC110814.1 -0.30 -0.28
SDC1 -0.30 -0.29
EFNA2 -0.30 -0.34
MED19 -0.30 -0.31
DPF1 -0.30 -0.22
RNF19B -0.29 -0.24
FAM110A -0.29 -0.28

Section III. Gene Ontology annotation

Molecular function GO term Evidence Neuro keywords PubMed ID
去：0003714 转录CorePressor活性 塔斯 10823891
GO:0005515 protein binding 新闻学会 7477378
GO:0005215 transporter activity 塔斯 7568002
GO:0008017 microtubule binding 塔斯 7568002
Biological process GO term Evidence Neuro keywords PubMed ID
去：0006917 induction of apoptosis 塔斯 9778247
GO:0009887 organ morphogenesis 塔斯 7774020
GO:0009405 pathogenesis 塔斯 10353249
GO:0007610 behavior 塔斯 7774020
去：0006915 apoptosis 塔斯 8696339
细胞分量 GO term Evidence Neuro keywords PubMed ID
GO:0005794 Golgi apparatus IDA 15837803
GO:0005625 soluble fraction 塔斯 7568002
GO:0005634 核 塔斯 9778247
GO:0005737 细胞质 塔斯 7568002

第四节。蛋白质蛋白相互作用注释

Interactors Aliases B Official full name B Experimental 资源 PubMed ID
AKT1 AKT | MGC99656 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHA v-akt murine thymoma viral oncogene homolog 1 Huntingtin被Akt磷酸化。 BIND 12062094
AP2A2 ADTAB | CLAPA2 | HIP9 | HYPJ adaptor-related蛋白复合物2,α2子unit 两个杂交 BioGRID 9700202
CASP1 ICE | IL1BC | P45 caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) Huntingtin interacts with caspase 1. This interaction was modeled on a demonstrated interaction between human huntingtin and caspase 1 from an unspecified species. BIND 9535906
CASP1 ICE | IL1BC | P45 caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) - HPRD 9535906
CASP2 CASP-2 | ICH-1L | ICH-1L/1S | ICH1 | NEDD2 caspase 2, apoptosis-related cysteine peptidase Htt interacts with caspase 2. BIND 14713958
casp3 CPP32 | CPP32B | SCA-1 caspase 3, apoptosis-related cysteine peptidase Huntingtin interacts with caspase 3. This interaction was modeled on a demonstrated interaction between human Huntingtin and caspase 3 from an unspecified species. BIND 9535906
CASP6 MCH2 caspase 6, apoptosis-related cysteine peptidase Htt interacts with caspase 6. BIND 14713958
CASP7 CMH-1 |ICE-LAP3 |MCH3 caspase 7，与凋亡相关的半胱氨酸肽酶 Htt interacts with caspase 7. BIND 14713958
CASP8 ALPS2B | CAP4 | FLICE | FLJ17672 | MACH | MCH5 | MGC78473 caspase 8，与凋亡相关的半胱氨酸肽酶 Htt interacts with caspase 8. BIND 14713958
CBS HIP4 胱胱氨酸蛋白酶-beta合酶 - HPRD 10434301
CREBBP CBP | KAT3A | RSTS CREB binding protein CBP interacts with htt. This interaction was modeled on a demonstrated interaction between CBP and htt from unspecified species. BIND 10823891
CREBBP CBP | KAT3A | RSTS CREB binding protein - HPRD，Biogrid 11264541
CREBBP CBP | KAT3A | RSTS CREB binding protein Htt interacts with CBP. BIND 15225551
CTBP1 BARS | MGC104684 C-terminal binding protein 1 Huntingtin interacts with CTBP. BIND 11739372
CTBP1 BARS | MGC104684 C-terminal binding protein 1 - HPRD，Biogrid 11739372
CXorf27 1700054O13Rik | HIP17 | HYPM chromosome X open reading frame 27 两个杂交 BioGRID 9700202
DCTN1 DAP-150 | DP-150 | HMN7B | P135 dynactin 1 (p150, glued homolog, Drosophila) - HPRD 9454836
DLG4 FLJ97752 | FLJ98574 | PSD95 | SAP90 discs, large homolog 4 (Drosophila) Huntingtin interacts with PSD-95. BIND 11319238
DNAJB2 HSJ1 | HSPF3 DnaJ (Hsp40) homolog, subfamily B, member 2 HSJ1a interacts with Htt-Q103. BIND 15936278
EGFR ERBB | ERBB1 | HER1 | PIG61 | mENA epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) - HPRD，Biogrid 9079622
EIF2AK2 EIF2AK1 | MGC126524 | PKR | PRKR eukaryotic translation initiation factor 2-alpha kinase 2 PKR与Huntingtin mRNA相互作用。 BIND 11468270
F8A1 DXS522E | F8A | HAP40 coagulation factor VIII-associated (intronic transcript) 1 - HPRD，Biogrid 11035034
FICD HIP13 |炒作|MGC5623 |UNQ3041 FIC domain containing - HPRD，Biogrid 9700202
GAPDH G3PD | GAPD | MGC88685 glyceraldehyde-3-phosphate dehydrogenase - HPRD，Biogrid 8612237
GRB2 ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084 growth factor receptor-bound protein 2 - HPRD，Biogrid 9079622
GRB2 ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084 growth factor receptor-bound protein 2 HDP与GRB2相互作用。 BIND 9079622
HAP1 HAP2 | HIP5 | HLP | hHLP1 亨廷顿-associated protein 1 Affinity Capture-Western
in vitro
in vivo
Reconstituted Complex
两个杂交		 BioGRID 7477378|9454836
|9599014|9668110
HAP1 HAP2 | HIP5 | HLP | hHLP1 亨廷顿-associated protein 1 Htt interacts with HAP1. This interaction was modeled on a demonstrated interaction between human Htt and Rat HAP1. BIND 15654337
HAP1 HAP2 | HIP5 | HLP | hHLP1 亨廷顿-associated protein 1 Huntingtin与HAP1相互作用。 BIND 9668110
HAP1 HAP2 | HIP5 | HLP | hHLP1 亨廷顿-associated protein 1 HTT与HAP1相互作用。 BIND 7477378
HAP1 HAP2 | HIP5 | HLP | hHLP1 亨廷顿-associated protein 1 - HPRD 7477378|9599014
|9668110|10974549
HIP1 ILWEQ | MGC126506 亨廷顿interacting protein 1 - HPRD，Biogrid 9147654|11063258
HIP1 ILWEQ | MGC126506 亨廷顿interacting protein 1 HIP1 interacts with HD. BIND 11063258
HIP1R FLJ14000 | FLJ27022 | HIP12 | HIP3 | ILWEQ | KIAA0655 | MGC47513 亨廷顿interacting protein 1 related - HPRD 11063258
HSPA4 APG-2 | HS24/P52 | MGC131852 | RY | hsp70 | hsp70RY heat shock 70kDa protein 4 HTT与HSP70相互作用。 BIND 15654337
HTT HD | IT15 亨廷顿 Htt interacts with itself to form oligomers. BIND 15225551
HYPK HSPC136 Huntingtin interacting protein K - HPRD，Biogrid 9700202
IFT57 ESRRBL1 | FLJ10147 | HIPPI | MHS4R2 intraflagellar transport 57 homolog (Chlamydomonas) - HPRD 11788820
MAGEA3 HIP8 | HYPD | MAGE3 | MAGEA6 | MGC14613 melanoma antigen family A, 3 两个杂交 BioGRID 9700202
MAP3K10 MLK2 |MST mitogen-activated protein kinase kinase kinase 10 MLK2 SH3 domain interacts with Huntingtin BIND 10801775
MAP3K10 MLK2 |MST mitogen-activated protein kinase kinase kinase 10 - HPRD，Biogrid 10801775
MED31 3110004H13rik |CGI-125 |FLJ27436 |FLJ36714 |SOH1 中介复合体亚基31 - HPRD 15383276
NCOR1 KIAA1047 | MGC104216 | N-CoR | TRAC1 | hCIT529I10 | hN-CoR nuclear receptor co-repressor 1 HD interacts with N-CoR. BIND 10441327
NCOR1 KIAA1047 | MGC104216 | N-CoR | TRAC1 | hCIT529I10 | hN-CoR nuclear receptor co-repressor 1 两个杂交 BioGRID 10441327
NEUROD1 BETA2 | BHF-1 | NEUROD | bHLHa3 neurogenic differentiation 1 Affinity Capture-Western BioGRID 12881483
OPTN FIP2 | GLC1E | HIP7 | HYPL | NRP | TFIIIA-INTP optineurin FIP-2 carboxy-terminus interacts with Huntingtin in perinuclear vesicular structures. BIND 11137014
OPTN FIP2 | GLC1E | HIP7 | HYPL | NRP | TFIIIA-INTP optineurin - HPRD，Biogrid 11137014
Pacsin1 KIAA1379 | SDPI protein kinase C and casein kinase substrate in neurons 1 - HPRD，Biogrid 12354780
Pacsin1 KIAA1379 | SDPI protein kinase C and casein kinase substrate in neurons 1 亨廷顿interacts with PACSIN1. BIND 12354780
PRPF40A FBP-11 |FBP11 |flaf1 |FLJ20585 |fnbp3 |hip10 |hypa |NY-REN-6 PRP40前MRNA处理因子40同源物A（酿酒酵母） - HPRD，Biogrid 9700202
PRPF40A FBP-11 |FBP11 |flaf1 |FLJ20585 |fnbp3 |hip10 |hypa |NY-REN-6 PRP40前MRNA处理因子40同源物A（酿酒酵母） Huntingtin与HYPA相互作用 BIND 9700202
PRPF40B HYPC PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) Huntingtin与HYPC相互作用 BIND 9700202
PRPF40B HYPC PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) - HPRD，Biogrid 9700202
rasa1 CM-AVM | CMAVM | DKFZp434N071 | GAP | PKWS | RASA | RASGAP | p120GAP | p120RASGAP RAS p21 protein activator (GTPase activating protein) 1 HDP interacts with RasGAP. BIND 9079622
rasa1 CM-AVM | CMAVM | DKFZp434N071 | GAP | PKWS | RASA | RASGAP | p120GAP | p120RASGAP RAS p21 protein activator (GTPase activating protein) 1 - HPRD，Biogrid 9079622
SETD2 FLJ16420 |FLJ22472 |FLJ23184 |FLJ45883 |FLJ46217 |HIF-1 |HSPC069 |hypb |KIAA1732 |KMT3A | SET2 | p231HBP SET domain containing 2 - HPRD，Biogrid 9700202
SETD2 FLJ16420 |FLJ22472 |FLJ23184 |FLJ45883 |FLJ46217 |HIF-1 |HSPC069 |hypb |KIAA1732 |KMT3A | SET2 | p231HBP SET domain containing 2 Huntingtin与HYPB相互作用 BIND 9700202
SH3GL3 CNSA3 | EEN-2B-L3 | EEN-B2 | HsT19371 | SH3D2C | SH3P13 SH3域grb2状3 HD interacts with SH3GL3. BIND 9809064
SH3GL3 CNSA3 | EEN-2B-L3 | EEN-B2 | HsT19371 | SH3D2C | SH3P13 SH3域grb2状3 - HPRD，Biogrid 9809064
SH3GLB1 Bif-1 | CGI-61 | KIAA0491 | dJ612B15.2 SH3-domain GRB2-like endophilin B1 - HPRD，Biogrid 12456676
SIN3A DKFZp434K2235 | FLJ90319 | KIAA0700 SIN3 homolog A, transcription regulator (yeast) mSin3A interacts with htt. This interaction was modeled on a demonstrated interaction between mSin3A and htt from unspecified species. BIND 10823891
SP1 - Sp1 transcription factor - HPRD，Biogrid 11839795
SP1 - Sp1 transcription factor Huntingtin interacts with Sp1. This interaction was modelled on a demonstrated interaction between Huntingtin from human and Sp1 from rat. BIND 11839795
SUMO1 DAP-1 | GMP1 | OFC10 | PIC1 | SENP2 | SMT3 | SMT3C | SMT3H3 | SUMO-1 | UBL1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) HD is covalently attached to SUMO-1 via lysine residues. BIND 15064418
TAF4 FLJ41943 |taf2c |taf2c1 |taf4a |tafii130 |TAFII135 TAF4RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa TAFII130 interacts with htt. BIND 11988536
TAF4 FLJ41943 |taf2c |taf2c1 |taf4a |tafii130 |TAFII135 TAF4RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa - HPRD 11988536
TBP GTF2D | GTF2D1 | MGC117320 | MGC126054 | MGC126055 | SCA17 | TFIID TATA box binding protein Htt interacts with TBP. BIND 15225551
TBP GTF2D | GTF2D1 | MGC117320 | MGC126054 | MGC126055 | SCA17 | TFIID TATA box binding protein - HPRD 10410676
TCERG1 CA150 | MGC133200 | TAF2S transcription elongation regulator 1 Htt interacts with CA150. BIND 11172033
TCERG1 CA150 | MGC133200 | TAF2S transcription elongation regulator 1 - HPRD，Biogrid 11172033
TGM2 g-alpha-h |gnah |TG2 |TGC transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) Htt interacts with tTG. BIND 11442349
TGM2 g-alpha-h |gnah |TG2 |TGC transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) - HPRD 11442349
TP53 FLJ92943 |LFS1 |trp53 |p53 tumor protein p53 p53interacts with htt. This interaction was modeled on a demonstrated interaction between p53 from human and htt from an unspecified species. BIND 10823891
TP53 FLJ92943 |LFS1 |trp53 |p53 tumor protein p53 Htt interacts with TP53(p53). BIND 15996546
TP53 FLJ92943 |LFS1 |trp53 |p53 tumor protein p53 - HPRD，Biogrid 10823891
TPH1 MGC119994 | TPH | TPRH tryptophan hydroxylase 1 - HPRD 12354289
TPR - translocated promoter region (to activated MET oncogene) Htt interacts with Tpr. BIND 15654337
TRIP10 CIP4 |HSTP |stot |STP thyroid hormone receptor interactor 10 htt interacts with CIP4. BIND 12604778
TRIP10 CIP4 |HSTP |stot |STP thyroid hormone receptor interactor 10 - HPRD，Biogrid 12604778
ube2k DKFZp564C1216 | DKFZp686J24237 | E2-25K | HIP2 | HYPG | LIG ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast) - HPRD，Biogrid 8702625
ube2k DKFZp564C1216 | DKFZp686J24237 | E2-25K | HIP2 | HYPG | LIG ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast) HD interacts with hE2-25K. BIND 8702625
ZDHHC17 HIP14 | HIP3 | HSPC294 | HYPH | KIAA0946 zinc finger, DHHC-type containing 17 HIP14 catalyzes palmitoylation of htt. This interaction was modeled on a demonstrated interaction between human HIP14 and htt from an unspecified species. BIND 15603740
ZDHHC17 HIP14 | HIP3 | HSPC294 | HYPH | KIAA0946 zinc finger, DHHC-type containing 17 - HPRD，Biogrid 9700202|12393793
ZDHHC17 HIP14 | HIP3 | HSPC294 | HYPH | KIAA0946 zinc finger, DHHC-type containing 17 HTT与HIP14相互作用。 BIND 12393793


V.途径注释

Pathway name Pathway size ＃szgr 2.0基因 Info
Kegg Huntingtons病 185 109 该途径中的所有SZGR 2.0基因
PID P53下游途径 137 94 该途径中的所有SZGR 2.0基因
Gargalovic对氧化磷脂的反应蓝色DN 61 35 该途径中的所有SZGR 2.0基因
周炎性反应lps up 431 237 该途径中的所有SZGR 2.0基因
ENK UV RESPONSE EPIDERMIS UP 293 179 该途径中的所有SZGR 2.0基因
SCHLOSSER SERUM RESPONSE UP 134 93 该途径中的所有SZGR 2.0基因
Scheidereit IKK相互作用蛋白 58 45 该途径中的所有SZGR 2.0基因
LI WILMS TUMOR ANAPLASTIC UP 19 12 该途径中的所有SZGR 2.0基因
Gruetzmann胰腺癌DN 203 134 该途径中的所有SZGR 2.0基因
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479 299 该途径中的所有SZGR 2.0基因
Nuytten Nipp1靶向DN 848 527 该途径中的所有SZGR 2.0基因
MANTOVANI VIRAL GPCR SIGNALING DN 49 37 该途径中的所有SZGR 2.0基因
BYSTRYKH造血干细胞QTL Trans 882 572 该途径中的所有SZGR 2.0基因
WEIGEL OXIDATIVE STRESS BY HNE AND TBH 60 42 该途径中的所有SZGR 2.0基因
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 该途径中的所有SZGR 2.0基因
Krige对Tosedostat的反应24小时 783 442 该途径中的所有SZGR 2.0基因
YOSHIMURA MAPK8 TARGETS DN 366 257 该途径中的所有SZGR 2.0基因
Vantveer乳腺癌ESR1 UP 167 99 该途径中的所有SZGR 2.0基因
HOFFMANN LARGE TO SMALL PRE BII LYMPHOCYTE UP 163 102 该途径中的所有SZGR 2.0基因
MILI PSEUDOPODIA CHEMOTAXIS DN 457 302 该途径中的所有SZGR 2.0基因
米利假足型haptotaxis dn 668 419 该途径中的所有SZGR 2.0基因
CROONQUIST国家管制当局方面与基质刺激DN 99 65 该途径中的所有SZGR 2.0基因
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080 713 该途径中的所有SZGR 2.0基因

Section VI. microRNA annotation

miRNA family Target position mirna id miRNA seq
UTR start UTR end Match method
mir-137 3096 3102 1A hsa-miR-137 UAUUGCUUAAGAAUACGCGUAG
miR-216 582 588 1A HSA-MIR-216 UAAUCUCAGCUGGCAACUGUG
miR-411 613 619 1A hsa-miR-411 AACACGGUCCACUAACCCUCAGU