1. Gene
  2. CERS5 - ceramide synthase 5 Gene

CERS5 - ceramide synthase 5 Gene

Homo sapiens

Also known as Trh4; LASS5

Gene ID: 91012 | Gene type: protein coding

About CERS5

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,129,289-50,167,369 (from NCBI)

This gene has 28 transcripts (splice variants), 255 orthologues and 5 paralogues. Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CERS5 Products(7)

mRNA Protein Name
NM_001281731.2 NP_001268660.1 ceramide synthase 5 isoform 2
NM_001331069.3 NP_001317998.1 ceramide synthase 5 isoform 3
NM_001331070.3 NP_001317999.1 ceramide synthase 5 isoform 4
NM_001331071.3 NP_001318000.1 ceramide synthase 5 isoform 5
NM_001331072.3 NP_001318001.1 ceramide synthase 5 isoform 6
NM_001331073.3 NP_001318002.1 ceramide synthase 5 isoform 7
NM_147190.5 NP_671723.1 ceramide synthase 5 isoform 1

CERS5 Protein Structure

Homeobox

Homeobox: Homeobox domain (90 - 134)

TRAM_LAG1_CLN8

TRAM_LAG1_CLN8: TLC domain (140 - 333)

  • 0
  • 100
  • 200
  • 300
  • 392 a.a.
Protein Preferred Names Protein Names

ceramide synthase 5

LAG1 homolog, ceramide synthase 5

Related Diseases

Diseases Alias
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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 CERS5 MGD MGI:1919199
Canis familiaris CERS5 VGNC VGNC:39151
Felis catus CERS5 VGNC VGNC:60795
Rattus norvegicus CERS5 RGD RGD:1311597
Macaca mulatta CERS5 VGNC VGNC:71078
Bos taurus CERS5 VGNC VGNC:27227