• Gene id: 4071

Gene Summary

• Gene Symbol: TM4SF1   Gene   UCSC   Ensembl
• Aliases: H-L6, L6, M3S1, TAAL6
• Gene name: transmembrane 4 L six family member 1
• Alternate names: transmembrane 4 L6 family member 1, membrane component, chromosome 3, surface marker 1, transmembrane 4 superfamily member 1, tumor-associated antigen L6,
• Gene location: 3q25.1 (149377780: 149369021)     Exons: 5     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate
• OMIM: 191155

SNPs

rs587777031

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000010.11   g.119030032_119030034CTC[1]
NC_000010.11   g.119030032_119030034CTC[3]
NC_000010.11   g.119030032_119030034CTC[5]
NC_000010.10   g.120789544_120789546CTC[1]
NC_000010.10   g.120789544_120789546CTC[3]
NC_000010.10   g.120789544_120789546CTC[5]
NG_0  

rs79170274

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

NC_000010.11   g.119030036T>A
NC_000010.11   g.119030036T>C
NC_000010.10   g.120789548T>A
NC_000010.10   g.120789548T>C
NG_050764.1   g.5321T>A
NG_050764.1   g.5321T>C
NM_199461.4   c.235T>A
NM_199461.4   c.235T>C
NM_199461.3   c.235T>A
NM_199461.3   c.235T>C
NM_199461.  

Protein Summary

• Protein general information: P30408  
  • Name: Transmembrane 4 L6 family member 1 (Membrane component chromosome 3 surface marker 1) (Tumor associated antigen L6)
  • Length: 202  
  • Mass: 21632
  • Tissue specificity: Highly expressed in lung, breast, colon and ovarian carcinomas. It is also present on some normal cells, endothelial cells in particular.
• Sequence:

  MCYGKCARCIGHSLVGLALLCIAANILLYFPNGETKYASENHLSRFVWFFSGIVGGGLLMLLPAFVFIGLEQDDC
  CGCCGHENCGKRCAMLSSVLAALIGIAGSGYCVIVAALGLAEGPLCLDSLGQWNYTFASTEGQYLLDTSTWSECT
  EPKHIVEWNVSLFSILLALGGIEFILCLIQVINGVLGGICGFCCSHQQQYDC

• Structural information:
  • Interpro: IPR008661  
  • STRING: ENSP00000304277
• Other Databases: GeneCards:  TM4SF1  Malacards:  TM4SF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001825	blastocyst formation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881