• Gene id: 10548

Gene Summary

• Gene Symbol: TM9SF1   Gene   UCSC   Ensembl
• Aliases: HMP70, MP70
• Gene name: transmembrane 9 superfamily member 1
• Alternate names: transmembrane 9 superfamily member 1, MP70 protein family member, multispanning membrane protein (70kD), transmembrane protein 9 superfamily member 1,
• Gene location: 14q12 (24195735: 24189142)     Exons: 6     NC_000014.9
• OMIM: 604925

Protein Summary

• Protein general information: O15321  
  • Name: Transmembrane 9 superfamily member 1 (MP70 protein family member) (hMP70)
  • Length: 606  
  • Mass: 68861
  • Tissue specificity: Expressed in lung, pancreas, kidney, liver, placenta, skeletal muscle, heart and brain. The amount in skeletal muscle, heart and brain were considerably lower than in the other tissues. {ECO
• Sequence:

  MTVVGNPRSWSCQWLPILILLLGTGHGPGVEGVTHYKAGDPVILYVNKVGPYHNPQETYHYYQLPVCCPEKIRHK
  SLSLGEVLDGDRMAESLYEIRFRENVEKRILCHMQLSSAQVEQLRQAIEELYYFEFVVDDLPIRGFVGYMEESGF
  LPHSHKIGLWTHLDFHLEFHGDRIIFANVSVRDVKPHSLDGLRPDEFLGLTHTYSVRWSETSVERRSDRRRGDDG
  GFFPRTLEIHWLSIINSMVLVFLLVGFVAVILMRVLRNDLARYNLDEETTSAGSGDDFDQGDNGWKIIHTDVFRF
  PPYRGLLCAVLGVGAQFLALGTGIIVMALLGMFNVHRHGAINSAAILLYALTCCISGYVSSHFYRQIGGERWVWN
  IILTTSLFSVPFFLTWSVVNSVHWANGSTQALPATTILLLLTVWLLVGFPLTVIGGIFGKNNASPFDAPCRTKNI
  AREIPPQPWYKSTVIHMTVGGFLPFSAISVELYYIFATVWGREQYTLYGILFFVFAILLSVGACISIALTYFQLS
  GEDYRWWWRSVLSVGSTGLFIFLYSVFYYARRSNMSGAVQTVEFFGYSLLTGYVFFLMLGTISFFSSLKFIRYIY
  VNLKMD

• Structural information:
  • Interpro: IPR004240  
  • STRING: ENSP00000433967
• Other Databases: GeneCards:  TM9SF1  Malacards:  TM9SF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072657	protein localization to membrane	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray