Ehbp1 Gene Detail

Summary

• Symbol
  Ehbp1
• Name
  EH domain binding protein 1
• Synonyms
  Flj21950, KIAA0903-like

• Feature Type
  protein coding gene
• IDs
  MGI:2667252
  NCBI Gene: 216565
• Alliance
  gene page

Location & Maps

• Sequence Map
  Chr11:22005828-22342292 bp, - strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    336465 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 14.10 cM
• Mapping Data
  2 experiments

Homology

• Human Ortholog
  EHBP1, EH domain binding protein 1

• Vertebrate Orthologs
  10

• Human Ortholog
  EHBP1, EH domain binding protein 1
  Orthology source: HomoloGene, HGNC
• Synonyms
  HPC12, NACSIN
• Links
  HGNC:29144

  NCBI Gene ID: 23301

  neXtProt AC: NX_Q8NDI1

  UniProt: Q8NDI1

  
  
• Chr Location
  2p15; chr2:62673851-63046487 (+)  GRCh38.p7

---

• HomoloGene
  Vertebrate Homology Class 22880
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: EHBP1
• Gene Tree
  Ehbp1
  

Human Diseases

• Diseases
  1 with human EHBP1 associations

				Human Disease	Mouse Models
				prostate cancer IDs prostate cancer       DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  12 phenotype references
  

• All Mutations and Alleles
  11
• Chemically induced (other)
  1
• Gene trapped
  6
• Targeted
  4
• Genomic Mutations
  1 involving Ehbp1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  40 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  8
• GO References
  3

• External Resources
  FuncBase

Expression

• cDNA Data
  6
• Literature Summary
  1

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase ehbp1

Interactions

• Ehbp1 interacts with 221 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

Sequences &
Gene Models

• All Sequences
  71
• RefSeq
  38
• UniProt
  2
• CCDS
  CCDS24469.1, CCDS56762.1

• VEGA
  OTTMUSG00000005255 (Evidence)
• Ensembl
  ENSMUSG00000042302 (Evidence)
• NCBI Gene
  216565

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000005255	VEGA Gene Model | MGI Sequence Detail	336465	C57BL/6J
transcript	OTTMUST00000011720	VEGA | MGI Sequence Detail	4821	Not Applicable
polypeptide	OTTMUSP00000005431	VEGA | MGI Sequence Detail	1206	Not Applicable

Polymorphisms

• SNPs within 2kb
  1382 from dbSNP Build 142

Protein
Information

• UniProt
  2 Sequences
• Protein Ontology
  PR:000006941 EH domain-binding protein 1
  (term hierarchy)
• InterPro Domains
  IPR001715 Calponin homology domain
  IPR036872 CH domain superfamily
  IPR022735 Domain of unknown function DUF3585
  IPR019448 EEIG1/EHBP1 N-terminal domain
  IPR029944 EH domain-binding protein 1

Molecular
Reagents

• All nucleic 6

  cDNA 6

  
  

  Microarray probesets 3

References

• Summaries
  All 35

  Developmental Gene Expression 1

  Gene Ontology 3

  Phenotypes 12
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:236573 Nakajo A, et al., EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells. J Cell Biol. 2016 Feb 1;212(3):297-306