1. Gene
  2. EHBP1 - EH domain binding protein 1 Gene

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

NT-C2: N-terminal C2 in EEIG1 and EHBP1 proteins (13 - 163)

CH

CH: Calponin homology (CH) domain (447 - 547)

DUF3585

DUF3585: Protein of unknown function (DUF3585) (1070 - 1212)

  • 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

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