• Gene id: 27069

Gene Summary

• Gene Symbol: GHITM   Gene   UCSC   Ensembl
• Aliases: DERP2, HSPC282, MICS1, My021, PTD010, TMBIM5
• Gene name: growth hormone inducible transmembrane protein
• Alternate names: growth hormone-inducible transmembrane protein, dermal papilla-derived protein 2, mitochondrial morphology and cristae structure 1, transmembrane BAX inhibitor motif containing 5, transmembrane BAX inhibitor motif-containing protein 5,
• Gene location: 10q23.1 (130939246: 130902437)     Exons: 8     NC_000009.12

Protein Summary

• Protein general information: Q9H3K2  
  • Name: Growth hormone inducible transmembrane protein (Dermal papilla derived protein 2) (Mitochondrial morphology and cristae structure 1) (MICS1) (Transmembrane BAX inhibitor motif containing protein 5)
  • Length: 345  
  • Mass: 37205
• Sequence:

  MLAARLVCLRTLPSRVFHPAFTKASPVVKNSITKNQWLLTPSREYATKTRIGIRRGRTGQELKEAALEPSMEKIF
  KIDQMGRWFVAGGAAVGLGALCYYGLGLSNEIGAIEKAVIWPQYVKDRIHSTYMYLAGSIGLTALSAIAISRTPV
  LMNFMMRGSWVTIGVTFAAMVGAGMLVRSIPYDQSPGPKHLAWLLHSGVMGAVVAPLTILGGPLLIRAAWYTAGI
  VGGLSTVAMCAPSEKFLNMGAPLGVGLGLVFVSSLGSMFLPPTTVAGATLYSVAMYGGLVLFSMFLLYDTQKVIK
  RAEVSPMYGVQKYDPINSMLSIYMDTLNIFMRVATMLATGGNRKK

• Structural information:
  • Interpro: IPR006214  IPR035871  
  • CDD: cd10431
  • STRING: ENSP00000361207
• Other Databases: GeneCards:  GHITM  Malacards:  GHITM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006915	apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)