• Gene id: 53346

Gene Summary

• Gene Symbol: TM6SF1   Gene   UCSC   Ensembl
• Gene name: transmembrane 6 superfamily member 1
• Alternate names: transmembrane 6 superfamily member 1,
• Gene location: 15q25.2 (83107586: 83145402)     Exons: 15     NC_000015.10
• OMIM: 606562

SNPs

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: Q9BZW5  
  • Name: Transmembrane 6 superfamily member 1
  • Length: 370  
  • Mass: 41636
  • Tissue specificity: Enhanced expression in spleen, testis and peripheral blood leukocytes.
• Sequence:

  MSASAATGVFVLSLSAIPVTYVFNHLAAQHDSWTIVGVAALILFLVALLARVLVKRKPPRDPLFYVYAVFGFTSV
  VNLIIGLEQDGIIDGFMTHYLREGEPYLNTAYGHMICYWDGSAHYLMYLVMVAAIAWEETYRTIGLYWVGSIIMS
  VVVFVPGNIVGKYGTRICPAFFLSIPYTCLPVWAGFRIYNQPSENYNYPSKVIQEAQAKDLLRRPFDLMLVVCLL
  LATGFCLFRGLIALDCPSELCRLYTQFQEPYLKDPAAYPKIQMLAYMFYSVPYFVTALYGLVVPGCSWMPDITLI
  HAGGLAQAQFSHIGASLHARTAYVYRVPEEAKILFLALNIAYGVLPQLLAYRCIYKPEFFIKTKAEEKVE

• Structural information:
  • Protein Domains: (60..18-)
    (/note="EXPERA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01087-)
    (216..35-)
    (/note="EXPERA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01087"-)
  • Interpro: IPR033118  
  • Prosite: PS51751
  • STRING: ENSP00000317000
• Other Databases: GeneCards:  TM6SF1  Malacards:  TM6SF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray