EHBP1 - EH domain binding protein 1 Gene

Also Known as HPC12; NACSIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23301

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)

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  • 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
Others EHBP1 NCBI