RBCC Red Blood Cell Collection

HD_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: HTT , HD, IT15
Protein names and data: HD_HUMAN , Huntingtin , Huntington disease protein; HD protein Lenght: 3142 a.a.
Mass: 347603 Da
fasta formatted sequence
Function: May play a role in microtubule-mediated transport or vesicle function.
Disease: ( OMIM: 143100 613004 ) Huntington disease (HD) [MIM:143100]: A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus. Note=The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner.
Tissue specificity: Expressed in the brain cortex (at protein level). Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation.

Genetic variants

The poly-Gln region of HTT is highly polymorphic (10 to 35 repeats) in the normal population and is expanded to about 36-120 repeats in Huntington disease patients. The repeat length usually increases in successive generations, but contracts also on occasion. The adjacent poly-Pro region is also polymorphic and varies between 7-12 residues. Polyglutamine expansion leads to elevated susceptibility to apopain cleavage and likely result in accelerated neuronal apoptosis.

18 - 18 Q -> QQQ. VAR_005268
893 - 893 G -> R (in dbSNP:rs363075). VAR_060170 363075
1064 - 1064 V -> I (in dbSNP:rs35892913). VAR_060171 35892913
1091 - 1091 I -> M (in dbSNP:rs1143646). VAR_060172 1143646
1173 - 1173 T -> A (in dbSNP:rs3025843). VAR_060173 3025843
1260 - 1260 T -> M (in dbSNP:rs34315806). VAR_060174 34315806
1382 - 1382 E -> A (in dbSNP:rs3025837). VAR_054017 3025837
1385 - 1385 N -> H (in dbSNP:rs3025837). VAR_060175 3025837
1720 - 1720 T -> N (in dbSNP:rs363125). VAR_060176 363125
2113 - 2113 D -> Y (in dbSNP:rs1143648). VAR_060177 1143648
2309 - 2309 Y -> H (in dbSNP:rs362331). VAR_060178 362331
2786 - 2786 V -> I (in dbSNP:rs362272). VAR_060179 362272

Database cross-references

UniProt: P42858
Ensembl: ENST00000355072
MIM: 143100
MIM: 613004
neXtProt: NX_P42858
Antibodypedia: P42858 (may not find the protein thus also not any antibody)
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