Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51501
Gene name Gene Name - the full gene name approved by the HGNC.	Heat shock protein nuclear import factor hikeshi
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HIKESHI
Synonyms (NCBI Gene) Gene synonyms aliases	C11orf73, HLD13, HSPC138, HSPC179, L7RN6, OPI10
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HLD13
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q14.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but n

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199509279	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs202003795	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1057520064	G>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1387003933	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	22541429
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	22541429
GO:0005829	Component	Cytosol	TAS
GO:0006606	Process	Protein import into nucleus	IBA	21873635
GO:0006606	Process	Protein import into nucleus	IDA	22541429
GO:0007030	Process	Golgi organization	IEA
GO:0015031	Process	Protein transport	IDA	22541429
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IDA
GO:0030324	Process	Lung development	IEA
GO:0030544	Function	Hsp70 protein binding	IBA	21873635
GO:0030544	Function	Hsp70 protein binding	IDA	22541429, 25760597
GO:0030544	Function	Hsp70 protein binding	IPI	25760597
GO:0034605	Process	Cellular response to heat	IDA	22541429
GO:0061608	Function	Nuclear import signal receptor activity	IBA	21873635
GO:0061608	Function	Nuclear import signal receptor activity	IDA	22541429
GO:1900034	Process	Regulation of cellular response to heat	TAS

MIM	HGNC	e!Ensembl
614908	26938	ENSG00000149196

Protein

UniProt ID

Q53FT3

Protein name

Protein Hikeshi

Protein 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

PDB

3WVZ , 3WW0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05603	DUF775	1 → 195	Protein of unknown function (DUF775)	Family

Sequence

MFGCLVAGRLVQTAAQQVAEDKFVFDLPDYESINHVVVFMLGTIPFPEGMGGSVYFSYPD
SNGMPVWQLLGFVTNGKPSAIFKISGLKSGEGSQHPFGAMNIVRTPSVAQIGISVELLDS
MAQQTPVGNAAVSSVDSFTQFTQKMLDNFYNFASSFAVSQAQMTPSPSEMFIPANVVLKW
YENFQRRLAQNPLFWKT

Sequence length

197

Interactions

View interactions

	Reactome
			Regulation of HSF1-mediated heat shock response

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)	21364753
Hypomyelinating leukodystrophy	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809 View all (91 more)
Leukodystrophy	Leukodystrophy, LEUKODYSTROPHY, HYPOMYELINATING, 13	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)	26545878, 28000699
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	22535842
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
Atrophy	Associate	28000699
Carcinoma Renal Cell	Associate	28349958
Cysts	Associate	28000699
Demyelinating Diseases	Associate	34111619
Epilepsy	Associate	28000699
Fever	Associate	32377716
Leukodystrophy Metachromatic	Associate	34111619
Leukoencephalopathies	Associate	28000699
Nystagmus Pathologic	Associate	34111619
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	34111619, 40649816
Quadriplegia	Associate	34111619
Squamous Cell Carcinoma of Head and Neck	Associate	32377716

HIKESHI (heat shock protein nuclear import factor hikeshi)