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CERS4 ceramide synthase 4 [ Homo sapiens (human) ]

Gene ID: 79603, updated on 22-Aug-2020

Summary

Official Symbol
CERS4provided by HGNC
Official Full Name
ceramide synthase 4provided by HGNC
Primary source
HGNC:HGNC:23747
See related
Ensembl:ENSG00000090661 MIM:615334
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Trh1; LASS4
Expression
Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.3) and 24 other tissues See more
Orthologs

Genomic context

See CERS4 in Genome Data Viewer
Location:
19p13.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (8209329..8262433)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8274217..8327305)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene fibrillin 3 Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene uncharacterized LOC107985282 Neighboring gene CD320 molecule Neighboring gene NADH:ubiquinone oxidoreductase subunit A7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sphingosine N-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingosine N-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ceramide synthase 4
Names
LAG1 homolog, ceramide synthase 4
LAG1 longevity assurance homolog 4
sphingosine N-acyltransferase CERS4
NP_078828.2
XP_011526592.1
XP_011526593.1
XP_011526594.1
XP_011526595.1
XP_011526596.1
XP_011526597.1
XP_016882792.1
XP_016882793.1
XP_016882794.1
XP_024307487.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024552.3NP_078828.2  ceramide synthase 4

    See identical proteins and their annotated locations for NP_078828.2

    Status: VALIDATED

    Source sequence(s)
    AC022146, AK222621, BC009828, DA381485
    Consensus CDS
    CCDS12197.1
    UniProtKB/Swiss-Prot
    Q9HA82
    UniProtKB/TrEMBL
    Q53HF9
    Related
    ENSP00000251363.5, ENST00000251363.10
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    8209329..8262433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528294.2XP_011526596.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526596.1

    UniProtKB/Swiss-Prot
    Q9HA82
    Related
    ENST00000595722.5
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  2. XM_017027303.1XP_016882792.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  3. XM_011528292.2XP_011526594.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526594.1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  4. XM_017027304.1XP_016882793.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  5. XM_011528293.2XP_011526595.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526595.1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  6. XM_011528290.2XP_011526592.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526592.1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  7. XM_017027305.1XP_016882794.1  ceramide synthase 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  8. XM_011528295.2XP_011526597.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526597.1

    UniProtKB/Swiss-Prot
    Q9HA82
    Related
    ENSP00000453509.1, ENST00000559450.5
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  9. XM_011528291.2XP_011526593.1  ceramide synthase 4 isoform X1

    See identical proteins and their annotated locations for XP_011526593.1

    UniProtKB/Swiss-Prot
    Q9HA82
    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  10. XM_024451719.1XP_024307487.1  ceramide synthase 4 isoform X1

    Conserved Domains (2) summary
    smart00724
    Location:131332
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:71128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RNA

  1. XR_002958360.1 RNA Sequence

  2. XR_001753762.1 RNA Sequence

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