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

Gene ID: 68952, updated on 21-Apr-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. Located in Golgi apparatus and endoplasmic reticulum. Is expressed in nervous system and neural retina. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Orthologous to human TLCD3B (TLC domain containing 3B). [provided by Alliance of Genome Resources, Apr 2022]
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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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
  • 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 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
  2. 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
  3. 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
  4. PGC-1α4 Interacts with REST to Upregulate Neuronal Genes and Augment Energy Consumption in Developing Cardiomyocytes. Tuomainen T, et al. Cells, 2022 Sep 20. PMID 36230906, Free PMC Article
  5. CECR2 is involved in spermatogenesis and forms a complex with SNF2H in the testis. Thompson PJ, et al. J Mol Biol, 2012 Feb 3. PMID 22154806

See all (20) 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)
  • Targeted (1) 
  • Endonuclease-mediated (4) 

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 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
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 lipid metabolic process IEA
Inferred from Electronic Annotation
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
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 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

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