EHBP1 - EH domain binding protein 1 Gene
Also Known as HPC12; NACSIN
Species: Homo sapiens
About EHBP1
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: N-terminal C2 in EEIG1 and EHBP1 proteins (13 - 163)
CH: Calponin homology (CH) domain (447 - 547)
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 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Prostate Cancer, Hereditary, 12 |
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| Bardet-Biedl Syndrome 15 |
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| Prostate Cancer |
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| Bardet-Biedl Syndrome 7 |
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| Small Cell Carcinoma |
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| Spondylocostal Dysostosis 1, Autosomal Recessive |
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| Basal Cell Carcinoma |
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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 |