• Gene id: 83723

Gene Summary

• Gene Symbol: TLCD3B   Gene   UCSC   Ensembl
• Aliases: FAM57B, FP1188
• Gene name: TLC domain containing 3B
• Alternate names: ceramide synthase, TLC domain 3B, TLC domain ceramide synthase 3B, TLC domain-containing protein 3B, epididymis secretory sperm binding protein, family with sequence similarity 57 member B, protein FAM57B,
• Gene location: 16p11.2 (151399572: 151401936)     Exons: 7     NC_000001.11
• Gene summary(Entrez): This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcri
• OMIM: 615175

Protein Summary

• Protein general information: Q71RH2  
  • Name: Ceramide synthase (EC 2.3.1. ) (Protein FAM57B) (TLC domain containing protein 3B)
  • Length: 274  
  • Mass: 30629
• Sequence:

  MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLVSSVQAIMASTAGYIVSTSCKHIIDDQHWLSS
  AYTQFAVPYFIYDIYAMFLCHWHKHQVKGHGGDDGAARAPGSTWAIARGYLHKEFLMVLHHAAMVLVCFPLSVVW
  RQGKGDFFLGCMLMAEVSTPFVCLGKILIQYKQQHTLLHKVNGALMLLSFLCCRVLLFPYLYWAYGRHAGLPLLA
  VPLAIPAHVNLGAALLLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD

• Structural information:
  • Protein Domains: (34..26-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR006634  
  • Prosite: PS50922
  • STRING: ENSP00000369863
• Other Databases: GeneCards:  TLCD3B  Malacards:  TLCD3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0050291	sphingosine N-acyltransferase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881