EHBP1 - EH domain binding protein 1 Gene

Homo sapiens

Also known as HPC12; NACSIN

Gene ID: 23301 | Gene type: protein coding

About EHBP1

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:62,673,878-63,046,487 (from NCBI)

This gene has 20 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 15.6), fat (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate Cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

EHBP1 Products(15)

mRNA	Protein	Name
NM_001142614.2	NP_001136086.1	EH domain-binding protein 1 isoform 2
NM_001142615.3	NP_001136087.1	EH domain-binding protein 1 isoform 3
NM_001142616.3	NP_001136088.1	EH domain-binding protein 1 isoform 3
NM_001354212.1	NP_001341141.1	EH domain-binding protein 1 isoform 1
NM_001354213.1	NP_001341142.1	EH domain-binding protein 1 isoform 1
NM_001354214.1	NP_001341143.1	EH domain-binding protein 1 isoform 1
NM_001354215.1	NP_001341144.1	EH domain-binding protein 1 isoform 4
NM_001354216.2	NP_001341145.1	EH domain-binding protein 1 isoform 4
NM_001354217.1	NP_001341146.1	EH domain-binding protein 1 isoform 5
NM_001354218.1	NP_001341147.1	EH domain-binding protein 1 isoform 3
NM_001354219.2	NP_001341148.1	EH domain-binding protein 1 isoform 6
NM_001354220.1	NP_001341149.1	EH domain-binding protein 1 isoform 6
NM_001354221.2	NP_001341150.1	EH domain-binding protein 1 isoform 7
NM_001354222.2	NP_001341151.1	EH domain-binding protein 1 isoform 8
NM_015252.5	NP_056067.2	EH domain-binding protein 1 isoform 1

EHBP1 Protein Structure

NT-C2

DUF3585

0
200
400
600
800
1000
1231 a.a.

Protein Preferred Names

Protein Names

EH domain-binding protein 1

NPF calponin-like protein

Related Diseases

Diseases

Alias

Prostate Cancer, Hereditary, 12

HPC12	Familial Prostate Cancer 12
Cancer, Prostate, Hereditary, Type 12

Bardet-Biedl Syndrome 15

BBS15

Bardet-Biedl Syndrome, Type 15

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Bardet-Biedl Syndrome 7

BBS7	Bardet-Biedl Syndrome, Type 7

Small Cell Carcinoma

Small Cell Carcinoma, Intermediate Cell	Intermediate Cell Small Cell Carcinoma
Small Cell Carcinoma - Intermediate Cell	Small Cell Carcinoma Of Lung
Carcinoma, Small Cell

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome	SCDO1
Vertebral Anomalies	Spondylothoracic Dysplasia
Costovertebral Dysplasia	Spondylothoracic Dysostosis
Spondylocostal Dysostosis 1	Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis, Autosomal Recessive, 1	Doid:0112365
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Basal Cell Carcinoma

Basal Cell Cancer	Basal Cell Neoplasm
Basal Cell Carcinoma Of Skin	Malignant Basal Cell Tumor
Basal Cell Tumor	Epithelioma Basal Cell
Malignant Basal Cell Neoplasm	Rodent Ulcer
Carcinoma Basal Cell	Neoplasms, Basal Cell
Basal Cell Carcinomas	Experimental Organism Basal Cell Carcinoma
Nodulo-Ulcerative Basal Cell Carcinoma	Basalioma
Basal Cell Epithelioma Of Skin	Bcc - [Basal Cell Carcinoma] Of Skin
Rodent Ulcer Of Skin	Rodent Ulcer Of Unspecified Site
Basal Cell Epithelioma Of Unspecified Site

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04219	EHBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04220	EHBP1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EHBP1	VGNC	VGNC:61762
Macaca mulatta	EHBP1	VGNC	VGNC:72138
Mus musculus	EHBP1	MGD	MGI:2667252
Rattus norvegicus	EHBP1	RGD	RGD:1310604
Canis familiaris	EHBP1	VGNC	VGNC:40244
Bos taurus	EHBP1	VGNC	VGNC:28370

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