1. Gene
  2. ELMO1 - engulfment and cell motility 1 Gene

ELMO1 - engulfment and cell motility 1 Gene

Homo sapiens

Also known as CED12; CED-12; ELMO-1

Gene ID: 9844 | Gene type: protein coding

About ELMO1

Cytogenetic location: 7p14.2-p14.1 Genomic coordinates (GRCh38): 7:36,852,906-37,449,326 (from NCBI)

This gene has 19 transcripts (splice variants), 239 orthologues and 5 paralogues. Broad expression in brain (RPKM 17.7), thyroid (RPKM 16.1) and 22 other tissues.

Summary

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ELMO1 Products(5)

mRNA Protein Name
NM_001039459.3 NP_001034548.1 engulfment and cell motility protein 1 isoform 2
NM_001206480.2 NP_001193409.1 engulfment and cell motility protein 1 isoform 1
NM_001206482.2 NP_001193411.1 engulfment and cell motility protein 1 isoform 1
NM_014800.11 NP_055615.8 engulfment and cell motility protein 1 isoform 1
NM_130442.4 NP_569709.1 engulfment and cell motility protein 1 isoform 2

ELMO1 Protein Structure

DUF3361

DUF3361: Domain of unknown function (DUF3361) (114 - 281)

ELMO_CED12

ELMO_CED12: ELMO/CED-12 family (301 - 482)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
Protein Preferred Names Protein Names

engulfment and cell motility protein 1

ced-12 homolog 1

Related Diseases

Diseases Alias
Diaphanospondylodysostosis

Vertebral Ossification, Defect In, With Nephrogenic Rests

DSD

Defect In Vertebral Ossification With Nephrogenic Rests

Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

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
Mus musculus ELMO1 MGD MGI:2153044
Bos taurus ELMO1 VGNC VGNC:28438
Rattus norvegicus ELMO1 RGD RGD:1308182
Canis familiaris ELMO1 VGNC VGNC:40309
Macaca mulatta ELMO1 VGNC VGNC:72051
Felis catus ELMO1 VGNC VGNC:61815