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CERS5 ceramide synthase 5 [ Homo sapiens (human) ]

Gene ID: 91012, updated on 1-Jun-2020

Summary

Official Symbol
CERS5provided by HGNC
Official Full Name
ceramide synthase 5provided by HGNC
Primary source
HGNC:HGNC:23749
See related
Ensembl:ENSG00000139624 MIM:615335
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Trh4; LASS5
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]
Expression
Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See CERS5 in Genome Data Viewer
Location:
12q13.12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (50129289..50167533, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50523581..50561154, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene glycerol-3-phosphate dehydrogenase 1 Neighboring gene cytochrome c oxidase assembly factor COX14 Neighboring gene LIM domain and actin binding 1 Neighboring gene microRNA 1293 Neighboring gene RNA, U6 small nuclear 1093, pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25304, MGC45411

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 
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 5
Names
LAG1 homolog, ceramide synthase 5
LAG1 longevity assurance homolog 5
TRAM homolog 4
sphingosine N-acyltransferase CERS5
NP_001268660.1
NP_001317998.1
NP_001317999.1
NP_001318000.1
NP_001318001.1
NP_001318002.1
NP_671723.1
XP_005269277.1
XP_016875693.1
XP_024305039.1
XP_024305040.1

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_001281731.1NP_001268660.1  ceramide synthase 5 isoform 2

    See identical proteins and their annotated locations for NP_001268660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC074032, AK027087, AK300937, BC014637, DA230084, HY016808
    Consensus CDS
    CCDS61120.1
    UniProtKB/Swiss-Prot
    Q8N5B7
    Related
    ENSP00000389050.2, ENST00000422340.6
    Conserved Domains (2) summary
    smart00724
    Location:81281
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:3178
    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. NM_001331069.2NP_001317998.1  ceramide synthase 5 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  3. NM_001331070.2NP_001317999.1  ceramide synthase 5 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  4. NM_001331071.2NP_001318000.1  ceramide synthase 5 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
    Conserved Domains (2) summary
    smart00724
    Location:139339
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:89136
    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. NM_001331072.2NP_001318001.1  ceramide synthase 5 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  6. NM_001331073.2NP_001318002.1  ceramide synthase 5 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  7. NM_147190.5NP_671723.1  ceramide synthase 5 isoform 1

    See identical proteins and their annotated locations for NP_671723.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC074032, AC139016, AK026014, AK300937
    Consensus CDS
    CCDS8801.1
    UniProtKB/Swiss-Prot
    Q8N5B7
    Related
    ENSP00000325485.6, ENST00000317551.12
    Conserved Domains (2) summary
    smart00724
    Location:139339
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:89136
    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. NR_104035.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks one internal exon and contains one alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC074032, AK027087, BC033558, DA230084, HY016808
    Related
    ENST00000380189.8
  2. NR_138532.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  3. NR_138533.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  4. NR_138534.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  5. NR_138535.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016
  6. NR_138536.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC074032, AC139016

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    50129289..50167533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269220.2XP_005269277.1  ceramide synthase 5 isoform X1

    Conserved Domains (2) summary
    cd00086
    Location:89136
    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.
    pfam03798
    Location:140333
    TRAM_LAG1_CLN8; TLC domain
  2. XM_024449271.1XP_024305039.1  ceramide synthase 5 isoform X2

    Conserved Domains (2) summary
    smart00724
    Location:81281
    TLC; TRAM, LAG1 and CLN8 homology domains
    cd00086
    Location:3178
    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_024449272.1XP_024305040.1  ceramide synthase 5 isoform X4

    Conserved Domains (1) summary
    pfam03798
    Location:1141
    TRAM_LAG1_CLN8; TLC domain
  4. XM_017020204.2XP_016875693.1  ceramide synthase 5 isoform X3

    Related
    ENSP00000448295.2, ENST00000547800.2

RNA

  1. XR_429120.3 RNA Sequence

  2. XR_001748920.2 RNA Sequence

  3. XR_002957387.1 RNA Sequence

  4. XR_002957388.1 RNA Sequence

    Related
    ENST00000547787.5
  5. XR_001748921.1 RNA Sequence

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