HXK1_HUMAN
Source:
BSc_CH
Marked as 'Membrane associated protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
HK1
Protein names and data:
HXK1_HUMAN
, Hexokinase-1; 2.7.1.1
, Brain form hexokinase; Hexokinase type I; HK I
Lenght: 917 a.a.
Mass: 102486 Da
fasta formatted sequence
Catalytic activity:
ATP + D-hexose = ADP + D-hexose 6-phosphate.
Pathway:
Carbohydrate metabolism; hexose metabolism.
Disease:
( OMIM:
142600
235700
605285
)
Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. Note=The disease is caused by mutations affecting the gene represented in this entry. Hereditary motor and sensory neuropathy, Russe type (HMSNR) [MIM:605285]: An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.
Tissue specificity:
Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.
Genetic variants
529 - 529
L -> S (in HK deficiency). VAR_009878
680 - 680
T -> S (in HK deficiency; HK Utrecht). VAR_023780
776 - 776
L -> M (in dbSNP:rs1054203). VAR_023781
1054203
Database cross-references
UniProt:
P19367
Ensembl:
ENST00000298649
Ensembl:
ENST00000359426
Ensembl:
ENST00000360289
Ensembl:
ENST00000404387
MIM:
142600
MIM:
235700
MIM:
605285
neXtProt:
NX_P19367
Antibodypedia:
P19367
(may not find the protein thus also not any antibody)
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