Gene: ENSG00000197386 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000197386
Transcript Identifier
ENST00000355072
Gene Type
Coding gene
Location
4 : 3074826-3240059 : positive

Family Information

Homologous gene family
HOM02SEM048561
(2 genes in 2 species)
specific family
Orthologous gene family
ORTHO02SEM020058
(2 genes in 2 species)
specific family

Descriptions

gene_descr
huntingtin

Identifiers

Type Value
pidENSP00000347184
HGNC4851
UniprotP42858
RefSeq_mRNANM_002111.7
EMBLCHEMBL5514
EMBLAB016794
EMBLL12392
EMBLL20431
EMBLL27350
EMBLL27351
EMBLL27352
EMBLL27353
EMBLL27354
EMBLL34020
EMBLZ49154
EMBLZ49155
EMBLZ49208
EMBLZ49769
EMBLZ68756
EMBLZ69649

Toolbox

Explore

Create

View

Browse

 

Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:2001237
IMP
Genome Projectnegative regulation of extrinsic apoptotic signaling pathway
GO:2001237
IMP
Gene Ontologynegative regulation of extrinsic apoptotic signaling pathway1
GO:1905337
IMP
Genome Projectpositive regulation of aggrephagy
GO:1905337
IMP
Gene Ontologypositive regulation of aggrephagy2
GO:1904504
IMP
Genome Projectpositive regulation of lipophagy
GO:1904504
IMP
Gene Ontologypositive regulation of lipophagy2
GO:1903599
IMP
Genome Projectpositive regulation of autophagy of mitochondrion
GO:1903599
IMP
Gene Ontologypositive regulation of autophagy of mitochondrion2
GO:0048513
IBA
Genome Projectanimal organ development
GO:0047496
IMP
Genome Projectvesicle transport along microtubule
GO:0047496
IMP
Gene Ontologyvesicle transport along microtubule3
GO:0045724
IMP
Genome Projectpositive regulation of cilium assembly
GO:0045724
IMP
Gene Ontologypositive regulation of cilium assembly4
GO:0043666
IMP
Genome Projectregulation of phosphoprotein phosphatase activity
GO:0043666
IMP
Gene Ontologyregulation of phosphoprotein phosphatase activity5
GO:0043065
IDA
Genome Projectpositive regulation of apoptotic process
GO:0043065
IDA
Gene Ontologypositive regulation of apoptotic process6
GO:0042297
IMP
Genome Projectvocal learning
GO:0042297
IMP
Gene Ontologyvocal learning7
GO:0031648
IMP
Genome Projectprotein destabilization
GO:0031648
IMP
Gene Ontologyprotein destabilization6
GO:0031587
IDA
Genome Projectpositive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0031587
IDA
Gene Ontologypositive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity8
GO:0007030
IMP
Genome ProjectGolgi organization
GO:0007030
IMP
Gene OntologyGolgi organization3
GO:0006915
IEA
Genome Projectapoptotic process
GO:0006890
IMP
Genome Projectretrograde vesicle-mediated transport, Golgi to ER
GO:0006890
IMP
Gene Ontologyretrograde vesicle-mediated transport, Golgi to ER3
GO:0000132
IMP
Genome Projectestablishment of mitotic spindle orientation
GO:0000132
IMP
Gene Ontologyestablishment of mitotic spindle orientation9
GO:2000479
IMP
Gene Ontologyregulation of cAMP-dependent protein kinase activity10
GO:1905289
IMP
Gene Ontologyregulation of CAMKK-AMPK signaling cascade10
GO:0031445
IEA
PLAZA Integrative Orthologyregulation of heterochromatin assembly FBgn0027655
GO:0071103
IEA
PLAZA Integrative OrthologyDNA conformation change FBgn0027655
GO:0030154
IEA
PLAZA Integrative Orthologycell differentiation FBgn0027655
GO:0010847
IEA
PLAZA Integrative Orthologyregulation of chromatin assembly FBgn0027655
GO:0097479
IEA
PLAZA Integrative Orthologysynaptic vesicle localization FBgn0027655
GO:0031507
IEA
PLAZA Integrative Orthologyheterochromatin assembly FBgn0027655
GO:0051276
IEA
PLAZA Integrative Orthologychromosome organization FBgn0027655
GO:0048869
IEA
PLAZA Integrative Orthologycellular developmental process FBgn0027655
GO:0045799
IEA
PLAZA Integrative Orthologypositive regulation of chromatin assembly or disassembly FBgn0027655
GO:0097480
IEA
PLAZA Integrative Orthologyestablishment of synaptic vesicle localization FBgn0027655
GO:0048468
IEA
PLAZA Integrative Orthologycell development FBgn0027655
GO:0048666
IEA
PLAZA Integrative Orthologyneuron development FBgn0027655
GO:0006333
IEA
PLAZA Integrative Orthologychromatin assembly or disassembly FBgn0027655
GO:0000902
IEA
PLAZA Integrative Orthologycell morphogenesis FBgn0027655
GO:0030182
IEA
PLAZA Integrative Orthologyneuron differentiation FBgn0027655
GO:0031175
IEA
PLAZA Integrative Orthologyneuron projection development FBgn0027655
GO:0033697
IEA
PLAZA Integrative Orthologypositive regulation of extent of heterochromatin assembly FBgn0027655
GO:0031454
IEA
PLAZA Integrative Orthologyregulation of extent of heterochromatin assembly FBgn0027655
GO:0031497
IEA
PLAZA Integrative Orthologychromatin assembly FBgn0027655
GO:0031453
IEA
PLAZA Integrative Orthologypositive regulation of heterochromatin assembly FBgn0027655
GO:0048489
IEA
PLAZA Integrative Orthologysynaptic vesicle transport FBgn0027655
GO:0032989
IEA
PLAZA Integrative Orthologycellular component morphogenesis FBgn0027655
GO:0099003
IEA
PLAZA Integrative Orthologyvesicle-mediated transport in synapse FBgn0027655
GO:0006338
IEA
PLAZA Integrative Orthologychromatin remodeling FBgn0027655
GO:0048858
IEA
PLAZA Integrative Orthologycell projection morphogenesis FBgn0027655
GO:0006323
IEA
PLAZA Integrative OrthologyDNA packaging FBgn0027655
GO:0001672
IEA
PLAZA Integrative Orthologyregulation of chromatin assembly or disassembly FBgn0027655
GO:0006325
IEA
PLAZA Integrative Orthologychromatin organization FBgn0027655
GO:0048699
IEA
PLAZA Integrative Orthologygeneration of neurons FBgn0027655
GO:0009653
IEA
PLAZA Integrative Orthologyanatomical structure morphogenesis FBgn0027655
GO:0022008
IEA
PLAZA Integrative Orthologyneurogenesis FBgn0027655
GO:0007399
IEA
PLAZA Integrative Orthologynervous system development FBgn0027655
GO:0048812
IEA
PLAZA Integrative Orthologyneuron projection morphogenesis FBgn0027655
GO:1902275
IEA
PLAZA Integrative Orthologyregulation of chromatin organization FBgn0027655
GO:0033044
IEA
PLAZA Integrative Orthologyregulation of chromosome organization FBgn0027655
GO:0032990
IEA
PLAZA Integrative Orthologycell part morphogenesis FBgn0027655
GO:0008088
IEA
PLAZA Integrative Orthologyaxo-dendritic transport FBgn0027655
GO:0120039
IEA
PLAZA Integrative Orthologyplasma membrane bounded cell projection morphogenesis FBgn0027655
GO:1905269
IEA
PLAZA Integrative Orthologypositive regulation of chromatin organization FBgn0027655
GO:2001252
IEA
PLAZA Integrative Orthologypositive regulation of chromosome organization FBgn0027655
GO:0070828
IEA
PLAZA Integrative Orthologyheterochromatin organization FBgn0027655

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0048487
IDA
Genome Projectbeta-tubulin binding
GO:0048487
IDA
Gene Ontologybeta-tubulin binding11
GO:0045505
IDA
Genome Projectdynein intermediate chain binding
GO:0045505
IDA
Gene Ontologydynein intermediate chain binding3
GO:0044325
IDA
Genome Projection channel binding
GO:0044325
IDA
Gene Ontologyion channel binding8
GO:0042802
IPI
Genome Projectidentical protein binding
GO:0042802
IPI
Gene Ontologyidentical protein binding12 13 14 15
GO:0034452
IPI
Genome Projectdynactin binding
GO:0034452
IPI
Gene Ontologydynactin binding16
GO:0031072
IPI
Genome Projectheat shock protein binding
GO:0031072
IPI
Gene Ontologyheat shock protein binding17
GO:0019900
IPI
Genome Projectkinase binding
GO:0019900
IPI
Gene Ontologykinase binding2
GO:0008134
IBA
Genome Projecttranscription factor binding
GO:0005522
IPI
Genome Projectprofilin binding
GO:0005522
IPI
Gene Ontologyprofilin binding18
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding1 2 3 6 8 13 14 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40
GO:0002039
IPI
Genome Projectp53 binding
GO:0002039
IPI
Gene Ontologyp53 binding23

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0048471
IMP
Genome Projectperinuclear region of cytoplasm
GO:0048471
IMP
ISS
Gene Ontologyperinuclear region of cytoplasm6
GO:0030659
IDA
Genome Projectcytoplasmic vesicle membrane
GO:0030659
IDA
Gene Ontologycytoplasmic vesicle membrane41
GO:0030425
IDA
Genome Projectdendrite
GO:0030425
IDA
Gene Ontologydendrite41
GO:0030424
IDA
Genome Projectaxon
GO:0030424
IDA
Gene Ontologyaxon41
GO:0016234
IMP
Genome Projectinclusion body
GO:0016234
IMP
Gene Ontologyinclusion body6
GO:0005829
IDA
Genome Projectcytosol
GO:0005829
IDA
Gene Ontologycytosol3
GO:0005814
IDA
Genome Projectcentriole
GO:0005814
IDA
Gene Ontologycentriole4
GO:0005794
IDA
Genome ProjectGolgi apparatus
GO:0005794
IDA
Gene OntologyGolgi apparatus42
GO:0005783
IDA
Genome Projectendoplasmic reticulum
GO:0005783
IDA
Gene Ontologyendoplasmic reticulum43
GO:0005776
IDA
Genome Projectautophagosome
GO:0005776
IDA
Gene Ontologyautophagosome43
GO:0005770
IDA
Genome Projectlate endosome
GO:0005770
IDA
Gene Ontologylate endosome43
GO:0005737
IDA, IMP
Genome Projectcytoplasm
GO:0005737
IDA, IMP
Gene Ontologycytoplasm6 26 41 44
GO:0005654
IDA
Genome Projectnucleoplasm
GO:0005654
IDA
Gene Ontologynucleoplasm
GO:0005634
IDA, IMP
Genome Projectnucleus
GO:0005634
IDA, IMP
Gene Ontologynucleus6 26 43 45
GO:0099524
IDA
Gene Ontologypostsynaptic cytosol41
GO:0099523
IDA
Gene Ontologypresynaptic cytosol41
GO:0032991
IDA, IMP
Gene Ontologyprotein-containing complex6 16

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
Show redundant parents:  
 
InterPro Description
IPR000091Huntingtin
IPR011989Armadillo-like helical
IPR016024Armadillo-type fold
IPR024613Huntingtin, middle-repeat
IPR028426Huntingtin family

No MapMan annotations defined for this gene.
KeggID Description
K04533HD; huntingtin
No chloroplast target sequence found.