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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	64342
Gene name	HCLS1 binding protein 3
Gene symbol	HS1BP3
Synonyms (NCBI Gene)	ETM2HS1-BP3
Chromosome	2
Chromosome location	2p24.1
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]

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023188	hsa-miR-124-3p	Microarray	18668037
MIRT1054780	hsa-miR-1185	CLIP-seq
MIRT1054781	hsa-miR-1324	CLIP-seq
MIRT1054782	hsa-miR-147	CLIP-seq
MIRT1054783	hsa-miR-1827	CLIP-seq
MIRT1054784	hsa-miR-2467-3p	CLIP-seq
MIRT1054785	hsa-miR-3135	CLIP-seq
MIRT1054786	hsa-miR-3177-5p	CLIP-seq
MIRT1054787	hsa-miR-3179	CLIP-seq
MIRT1054788	hsa-miR-3202	CLIP-seq
MIRT1054789	hsa-miR-330-3p	CLIP-seq
MIRT1054790	hsa-miR-3679-5p	CLIP-seq
MIRT1054791	hsa-miR-3684	CLIP-seq
MIRT1054792	hsa-miR-370	CLIP-seq
MIRT1054793	hsa-miR-3911	CLIP-seq
MIRT1054794	hsa-miR-4271	CLIP-seq
MIRT1054795	hsa-miR-4640-5p	CLIP-seq
MIRT1054796	hsa-miR-4650-5p	CLIP-seq
MIRT1054797	hsa-miR-4725-3p	CLIP-seq
MIRT1054798	hsa-miR-4726-5p	CLIP-seq
MIRT1054799	hsa-miR-4731-5p	CLIP-seq
MIRT1054800	hsa-miR-4747-5p	CLIP-seq
MIRT1054801	hsa-miR-4779	CLIP-seq
MIRT1054802	hsa-miR-489	CLIP-seq
MIRT1054803	hsa-miR-580	CLIP-seq
MIRT1054804	hsa-miR-644	CLIP-seq
MIRT1054805	hsa-miR-892a	CLIP-seq
MIRT2012461	hsa-miR-1237	CLIP-seq
MIRT2012462	hsa-miR-124	CLIP-seq
MIRT2012463	hsa-miR-1248	CLIP-seq
MIRT2012464	hsa-miR-1291	CLIP-seq
MIRT2012465	hsa-miR-1913	CLIP-seq
MIRT2012466	hsa-miR-3173-5p	CLIP-seq
MIRT2012467	hsa-miR-3189-5p	CLIP-seq
MIRT2012468	hsa-miR-324-3p	CLIP-seq
MIRT2012469	hsa-miR-3607-5p	CLIP-seq
MIRT2012470	hsa-miR-3622a-5p	CLIP-seq
MIRT2012471	hsa-miR-3714	CLIP-seq
MIRT2012472	hsa-miR-3910	CLIP-seq
MIRT1054794	hsa-miR-4271	CLIP-seq
MIRT2012473	hsa-miR-4501	CLIP-seq
MIRT2012474	hsa-miR-4504	CLIP-seq
MIRT2012475	hsa-miR-4521	CLIP-seq
MIRT2012476	hsa-miR-4713-5p	CLIP-seq
MIRT1054797	hsa-miR-4725-3p	CLIP-seq
MIRT1054800	hsa-miR-4747-5p	CLIP-seq
MIRT2012477	hsa-miR-4758-3p	CLIP-seq
MIRT2012478	hsa-miR-506	CLIP-seq
MIRT2012479	hsa-miR-542-3p	CLIP-seq
MIRT2012480	hsa-miR-564	CLIP-seq
MIRT2012481	hsa-miR-670	CLIP-seq
MIRT2244753	hsa-miR-1343	CLIP-seq
MIRT2244754	hsa-miR-193a-5p	CLIP-seq
MIRT2244755	hsa-miR-204	CLIP-seq
MIRT2244756	hsa-miR-211	CLIP-seq
MIRT2244757	hsa-miR-3153	CLIP-seq
MIRT1054787	hsa-miR-3179	CLIP-seq
MIRT1054788	hsa-miR-3202	CLIP-seq
MIRT2244758	hsa-miR-4251	CLIP-seq
MIRT1054794	hsa-miR-4271	CLIP-seq
MIRT2244759	hsa-miR-4283	CLIP-seq
MIRT2244760	hsa-miR-4287	CLIP-seq
MIRT2244761	hsa-miR-4420	CLIP-seq
MIRT2244762	hsa-miR-4469	CLIP-seq
MIRT2244763	hsa-miR-4477a	CLIP-seq
MIRT2244764	hsa-miR-4489	CLIP-seq
MIRT2244765	hsa-miR-4492	CLIP-seq
MIRT2244766	hsa-miR-4498	CLIP-seq
MIRT2244767	hsa-miR-4646-5p	CLIP-seq
MIRT2244768	hsa-miR-4685-3p	CLIP-seq
MIRT2244769	hsa-miR-4711-5p	CLIP-seq
MIRT1054797	hsa-miR-4725-3p	CLIP-seq
MIRT1054799	hsa-miR-4731-5p	CLIP-seq
MIRT1054800	hsa-miR-4747-5p	CLIP-seq
MIRT2244770	hsa-miR-508-5p	CLIP-seq
MIRT1054803	hsa-miR-580	CLIP-seq
MIRT2244771	hsa-miR-762	CLIP-seq
MIRT2389184	hsa-miR-4663	CLIP-seq
MIRT2389185	hsa-miR-558	CLIP-seq
MIRT1054782	hsa-miR-147	CLIP-seq
MIRT1054789	hsa-miR-330-3p	CLIP-seq
MIRT1054793	hsa-miR-3911	CLIP-seq
MIRT1054804	hsa-miR-644	CLIP-seq
MIRT1054805	hsa-miR-892a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005739	Component	Mitochondrion	IDA	21699750
GO:0005783	Component	Endoplasmic reticulum	IDA	21699750
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0042981	Process	Regulation of apoptotic process	IMP	21699750

MIM	HGNC	e!Ensembl
609359	24979	ENSG00000118960

Q53T59

Protein name

HCLS1-binding protein 3 (HS1-binding protein 3) (HSP1BP-3)

Protein function

May be a modulator of IL-2 signaling.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00787	PX	57 → 138	PX domain	Domain

Sequence

MQSPAVLVTSRRLQNAHTGLDLTVPQHQEVRGKMMSGHVEYQILVVTRLAAFKSAKHRPE
DVVQFLVSKKYSEIEEFYQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVS
KDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQVAEEG
PPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKVAVKAKPSPRLTIFDEEVDPDEG
LFGPGRKLSPQDPSEDVSSVDPLKLFDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRD
ASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVPPKAGPAEAVAGQQ
KPQEQIQAMDEMDILQYIQDHDTPAQAAPSLF

Sequence length

392

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharospasm	Blepharospasm	BEFREE	29770609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	12761658, 15108195, 15355439, 15699368, 16092108, 16211613, 16721753, 17353387, 17703985, 19524641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	LHGDN	15108195, 15699368, 16116142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	15699368, 19524641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	12761658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	16116142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19524641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	17353387		★★★★★ ★☆☆☆☆ Found in Text Mining only

HS1BP3 (HCLS1 binding protein 3)