HS1BP3 - HCLS1 binding protein 3 Gene

Homo sapiens

Also known as ETM2; HS1-BP3

Gene ID: 64342 | Gene type: protein coding

About HS1BP3

Cytogenetic location: 2p24.1 Genomic coordinates (GRCh38): 2:20,553,861-20,651,098 (from NCBI)

This gene has 9 transcripts (splice variants) and 145 orthologues. Ubiquitous expression in kidney (RPKM 5.9), adrenal (RPKM 5.4) and 25 other tissues.

Summary

The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]

HS1BP3 Products(1)

mRNA	Protein	Name
NM_022460.4	NP_071905.3	HCLS1-binding protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	21699750	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21699750	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	21699750	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HS1BP3 Protein Structure

0
100
200
300
392 a.a.

Protein Preferred Names

Protein Names

HCLS1-binding protein 3

HS1-binding protein 3

HS1BP3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HS1BP3	Q53T59	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	HS1BP3	Q53T59	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	HS1BP3	Q53T59	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	HS1BP3	Q53T59	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	HS1BP3	Q53T59	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	HS1BP3	Q53T59	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	HS1BP3	Q53T59	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	HS1BP3	Q53T59	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	HS1BP3	Q53T59	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	HS1BP3	Q53T59	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	HS1BP3	Q53T59	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	HS1BP3	Q53T59	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Essential Tremor

Benign Essential Tremor	Familial Tremor
Hereditary Essential Tremor	Essential Hereditary Tremor
Shaky Hand Syndrome	Benign Essential Tremor Syndrome
Tremor Hereditary Essential	Essential Tremor, Susceptibility To
Tremor, Hereditary Essential

Tremor, Hereditary Essential, 1

ETM1	Fet1
Essential Tremor 1	Tremor, Familial Essential, 1
Essential Tremor, Hereditary, 1	Hereditary Essential Tremor 1
Tremor Hereditary Essential, 1	Tremor Familial Essential, 1
Tremor, Hereditary Essential 1	Tremor, Essential Hereditary, Type 1

Myoclonic Cerebellar Dyssynergia

Dyssynergia Cerebellaris Myoclonica	Progressive Cerebellar Tremor
Dentate Cerebellar Ataxia	Dentatorubral Atrophy
Dyssynergia Cerebellaris Progressiva	Myoclonus And Ataxia
Primary Dentatum Atrophy	Progressive Myoclonus Ataxia
Ramsay Hunt Cerebellar Syndrome	Ramsay Hunt Syndrome Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06375	HS1BP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HS1BP3	VGNC	VGNC:62842
Macaca mulatta	HS1BP3	VGNC	VGNC:82158
Mus musculus	HS1BP3	MGD	MGI:1913224
Canis familiaris	HS1BP3	VGNC	VGNC:41790
Bos taurus	HS1BP3	VGNC	VGNC:59219
Rattus norvegicus	HS1BP3	RGD	RGD:1311331

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