• Gene id: 28962

Gene Summary

• Gene Symbol: OSTM1   Gene   UCSC   Ensembl
• Aliases: GIPN, GL, HSPC019, OPTB5
• Gene name: osteoclastogenesis associated transmembrane protein 1
• Alternate names: osteopetrosis-associated transmembrane protein 1, CLCN7 accessory beta subunit, GAIP-interacting protein N terminus, chloride channel 7 beta subunit, grey-lethal osteopetrosis, osteopetrosis associated transmembrane protein 1,
• Gene location: 6q21 (108074740: 108041408)     Exons: 7     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-ter
• OMIM: 607649

Protein Summary

• Protein general information: Q86WC4  
  • Name: Osteopetrosis associated transmembrane protein 1 (Chloride channel 7 beta subunit)
  • Length: 334  
  • Mass: 37257
• Sequence:

  MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGPLSLPP
  DLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMAD
  RMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCR
  EAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFY
  LSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN

• Structural information:
  • Interpro: IPR019172  
  • STRING: ENSP00000193322
• Other Databases: GeneCards:  OSTM1  Malacards:  OSTM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Osteopetrosis	KEGG:H00436
Osteopetrosis	KEGG:H00436
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)