• Gene id: 57217

Gene Summary

• Gene Symbol: TTC7A   Gene   UCSC   Ensembl
• Aliases: GIDID, MINAT, TTC7
• Gene name: tetratricopeptide repeat domain 7A
• Alternate names: tetratricopeptide repeat protein 7A, TPR repeat protein 7A,
• Gene location: 2p21 (46915865: 47076122)     Exons: 7     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript varian
• OMIM: 609332

Protein Summary

• Protein general information: Q9ULT0  
  • Name: Tetratricopeptide repeat protein 7A (TPR repeat protein 7A)
  • Length: 858  
  • Mass: 96185
  • Tissue specificity: Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level). {ECO
• Sequence:

  MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLE
  QCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGID
  DMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRH
  LKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECY
  WSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVS
  LQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTV
  PLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQ
  QLAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENF
  NLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSR
  RASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYM
  RGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQA
  QGQNEAAVDCFLTALELEASSPVLPFSIIPREL

• Structural information:
  • Interpro: IPR013026  IPR011990  IPR019734  IPR026900  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000378320
• Other Databases: GeneCards:  TTC7A  Malacards:  TTC7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Gastrointestinal defects and immunodeficiency syndrome	KEGG:H02331
Gastrointestinal defects and immunodeficiency syndrome	KEGG:H02331
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