HIKESHI
entrez
51501
canonical
uniprot
Q53FT3
canonical
ensembl
ENSG00000149196
resolver
ensp
ENSP00000278483
resolver
ensp
ENSP00000579813
resolver
ensp
ENSP00000660574
resolver
enst
ENST00000278483
resolver
genesymbol
HIKESHI
resolver
genesymbol_syn
C11orf73
resolver
hgnc
HGNC:26938
resolver
uniprot
Q8WVE8
resolver
uniprot
Q9NVQ2
resolver
uniprot
Q9NZZ1
resolver
uniprot
Q9P022
resolver
uniprot
Q9P0N1
resolver
uniprot_entry
HIKES_HUMAN
resolver
uniprot_sec
Q8WVE8
resolver
uniprot_sec
Q9NVQ2
resolver
uniprot_sec
Q9NZZ1
resolver
uniprot_sec
Q9P022
resolver
uniprot_sec
Q9P0N1
resolver
amino_acid_sequence
MFGCLVAGRLVQTAAQQVAEDKFVFDLPDYESINHVVVFMLGTIPFPEGMGGSVYFSYPDSNGMPVWQLLGFVTNGKPSAIFKISGLKSGEGSQHPFGAMNIVRTPSVAQIGISVELLDSMAQQTPVGNAAVSSVDSFTQFTQKMLDNFYNFASSFAVSQAQMTPSPSEMFIPANVVLKWYENFQRRLAQNPLFWKT
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM:616881]: An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. {ECO:0000269|PubMed:26545878}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus. {ECO:0000269|PubMed:22541429}.
uniprot
proteins
mass_dalton
21628
uniprot
proteins
mutagenesis
MUTAGEN 18; /note="V->A: Impairs the nuclear migrating activity."; /evidence="ECO:0000269|PubMed:25760597"; MUTAGEN 24; /note="V->A: Reduces the nuclear migrating activity."; /evidence="ECO:0000269|PubMed:25760597"; MUTAGEN 55; /note="Y->A: Reduces the nuclear migrating activity."; /evidence="ECO:0000269|PubMed:25760597"; MUTAGEN 77; /note="K->A: Decreases nuclear import activity of HSPA8. Does not affect the dimer formation. Impairs binding to HSPA8."; /evidence="ECO:0000269|PubMed:25760597"; MUTAGEN 97; /note="F->A: Increases the nuclear migrating activity."; /evidence="ECO:0000269|PubMed:25760597"; MUTAGEN 132..135; /note="Missing: Decreases nuclear import activity of HSPA8. Does not affect the dimer formation. Markedly decreases binding to HSPA8."; /evidence="ECO:0000269|PubMed:25760597"; MUTAGEN 141; /note="F->A: Decreases nuclear import activity of HSPA8. Does not affect the dimer formation. Decreases binding to HSPA8."; /evidence="ECO:0000269|PubMed:25760597
uniprot
proteins
protein_family
OPI10 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22541429
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25760597
uniprot
proteins
pubmed
26545878
uniprot
proteins
sequence_length
197
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9DD02}. Cytoplasm, cytosol {ECO:0000269|PubMed:22541429}. Nucleus {ECO:0000269|PubMed:22541429}.
uniprot
proteins