• Gene id: 23023

Gene Summary

• Gene Symbol: TMCC1   Gene   UCSC   Ensembl
• Gene name: transmembrane and coiled-coil domain family 1
• Alternate names: transmembrane and coiled-coil domains protein 1,
• Gene location: 3q22.1 (129893710: 129647791)     Exons: 52     NC_000003.12
• OMIM: 616242

Protein Summary

• Protein general information: O94876  
  • Name: Transmembrane and coiled coil domains protein 1
  • Length: 653  
  • Mass: 72083
• Sequence:

  MEPSGSEQLFEDPDPGGKSQDAEARKQTESEQKLSKMTHNALENINVIGQGLKHLFQHQRRRSSVSPHDVQQIQA
  DPEPEMDLESQNACAEIDGVPTHPTALNRVLQQIRVPPKMKRGTSLHSRRGKPEAPKGSPQINRKSGQEMTAVMQ
  SGRPRSSSTTDAPTSSAMMEIACAAAAAAAACLPGEEGTAERIERLEVSSLAQTSSAVASSTDGSIHTDSVDGTP
  DPQRTKAAIAHLQQKILKLTEQIKIAQTARDDNVAEYLKLANSADKQQAARIKQVFEKKNQKSAQTILQLQKKLE
  HYHRKLREVEQNGIPRQPKDVFRDMHQGLKDVGAKVTGFSEGVVDSVKGGFSSFSQATHSAAGAVVSKPREIASL
  IRNKFGSADNIPNLKDSLEEGQVDDAGKALGVISNFQSSPKYGSEEDCSSATSGSVGANSTTGGIAVGASSSKTN
  TLDMQSSGFDALLHEIQEIRETQARLEESFETLKEHYQRDYSLIMQTLQEERYRCERLEEQLNDLTELHQNEILN
  LKQELASMEEKIAYQSYERARDIQEALEACQTRISKMELQQQQQQVVQLEGLENATARNLLGKLINILLAVMAVL
  LVFVSTVANCVVPLMKTRNRTFSTLFLVVFIAFLWKHWDALFSYVERFFSSPR

• Structural information:
  • Interpro: IPR019394  
  • STRING: ENSP00000376930
• Other Databases: GeneCards:  TMCC1  Malacards:  TMCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0090148	membrane fission	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0097750	endosome membrane tubulation	IBA	biological process
GO:0140285	endosome fission	IBA	biological process
GO:0090148	membrane fission	IDA	biological process
GO:0140285	endosome fission	IDA	biological process
GO:0016197	endosomal transport	IDA	biological process
GO:0097750	endosome membrane tubulation	IDA	biological process
GO:0140284	endoplasmic reticulum-endosome membrane contact site	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IMP	cellular component
GO:0005791	rough endoplasmic reticulum	IMP	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:0042802	identical protein binding	IPI	molecular function
GO:0007029	endoplasmic reticulum organization	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq