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    Tlcd3b TLC domain containing 3B [ Mus musculus (house mouse) ]

    Gene ID: 68952, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tlcd3bprovided by MGI
    Official Full Name
    TLC domain containing 3Bprovided by MGI
    Primary source
    MGI:MGI:1916202
    See related
    Ensembl:ENSMUSG00000058966 AllianceGenome:MGI:1916202
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fam57b; 1500016O10Rik; A330104J06Rik
    Summary
    Enables sphingosine N-acyltransferase activity. Acts upstream of or within ceramide biosynthetic process and negative regulation of fat cell differentiation. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in nervous system and neural retina. Used to study cone-rod dystrophy. Human ortholog(s) of this gene implicated in cone-rod dystrophy 22. Orthologous to human TLCD3B (TLC domain containing 3B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in whole brain E14.5 (RPKM 41.6), CNS E18 (RPKM 34.4) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tlcd3b in Genome Data Viewer
    Location:
    7 F3; 7 69.25 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126413213..126429391)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126814041..126830219)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6603 Neighboring gene protein phosphatase 4, catalytic subunit Neighboring gene STARR-positive B cell enhancer ABC_E10476 Neighboring gene predicted gene, 57854 Neighboring gene aldolase A, fructose-bisphosphate Neighboring gene RIKEN cDNA 4930451I11 gene Neighboring gene double C2, alpha Neighboring gene INO80 complex subunit E

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model. Qian X, et al. Dis Model Mech, 2023 Jul 1. PMID 37466006, Free PMC Article
    2. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Qian X, et al. Invest Ophthalmol Vis Sci, 2022 Mar 2. PMID 35275174, Free PMC Article
    3. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Bertrand RE, et al. Genet Med, 2021 Mar. PMID 33077892, Free PMC Article
    4. Optimal bone fracture repair requires 24R,25-dihydroxyvitamin D3 and its effector molecule FAM57B2. Martineau C, et al. J Clin Invest, 2018 Aug 1. PMID 30010626, Free PMC Article
    5. Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis. Yamashita-Sugahara Y, et al. J Biol Chem, 2013 Feb 15. PMID 23275342, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPARgamma regulates Fam57b transcription during the adipogenesis of ST2 cells
      Title: Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC103222

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables sphingosine N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sphingosine N-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ceramide synthase
    Names
    TLC domain-containing protein 3B
    family with sequence similarity 57, member B
    protein FAM57B

    NCBI Reference Sequences (RefSeq)

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    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_001146347.1 → NP_001139819.1  ceramide synthase isoform 3

      See identical proteins and their annotated locations for NP_001139819.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in the 5' UTR and 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC124505
      Consensus CDS
      CCDS85415.1
      UniProtKB/Swiss-Prot
      Q7TNV1
      Related
      ENSMUSP00000145721.2, ENSMUST00000207020.2
      Conserved Domains (1) summary
      smart00724
      Location:15 → 210
      TLC; TRAM, LAG1 and CLN8 homology domains

    2. NM_026884.1 → NP_081160.1  ceramide synthase isoform 2

      See identical proteins and their annotated locations for NP_081160.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes alternate exons in the 5' UTR and 5' coding region, compared to variant 1. It encodes isoform 2, which is the same length as isoform 1, but has a distinct N-terminus.
      Source sequence(s)
      AC124505
      Consensus CDS
      CCDS52400.1
      UniProtKB/Swiss-Prot
      Q7TNV1
      Related
      ENSMUSP00000095640.5, ENSMUST00000098032.11
      Conserved Domains (1) summary
      smart00724
      Location:40 → 260
      TLC; TRAM, LAG1 and CLN8 homology domains

    3. NM_029978.1 → NP_084254.1  ceramide synthase isoform 1

      See identical proteins and their annotated locations for NP_084254.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AK131642, BB796908, BE984215, BM948380
      Consensus CDS
      CCDS52401.1
      UniProtKB/Swiss-Prot
      Q3V2R2, Q561N3, Q7TNV1, Q9CW26
      Related
      ENSMUSP00000078392.6, ENSMUST00000079423.7
      Conserved Domains (1) summary
      smart00724
      Location:40 → 260
      TLC; TRAM, LAG1 and CLN8 homology domains

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      126413213..126429391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006508164.2 → XP_006508227.1  ceramide synthase isoform X1

      See identical proteins and their annotated locations for XP_006508227.1

      UniProtKB/Swiss-Prot
      Q7TNV1
      Conserved Domains (1) summary
      smart00724
      Location:40 → 260
      TLC; TRAM, LAG1 and CLN8 homology domains

    2. XM_036153407.1 → XP_036009300.1  ceramide synthase isoform X1

      Conserved Domains (1) summary
      smart00724
      Location:40 → 260
      TLC; TRAM, LAG1 and CLN8 homology domains

    3. XM_006508166.3 → XP_006508229.1  ceramide synthase isoform X2

      See identical proteins and their annotated locations for XP_006508229.1

      UniProtKB/Swiss-Prot
      Q7TNV1
      Conserved Domains (1) summary
      smart00724
      Location:15 → 210
      TLC; TRAM, LAG1 and CLN8 homology domains
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TNV1.2 GenPept UniProtKB/Swiss-Prot:Q7TNV1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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