• Gene id: 346389

Gene Summary

• Gene Symbol: MACC1   Gene   UCSC   Ensembl
• Aliases: 7A5, SH3BP4L
• Gene name: MET transcriptional regulator MACC1
• Alternate names: metastasis-associated in colon cancer protein 1, MACC1, MET transcriptional regulator, SH3 domain-containing protein 7a5, metastasis associated in colon cancer 1, putative binding protein 7a5,
• Gene location: 7p21.1 (20217383: 20134654)     Exons: 7     NC_000007.14
• Gene summary(Entrez): MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis.

Protein Summary

• Protein general information: Q6ZN28  
  • Name: Metastasis associated in colon cancer protein 1 (SH3 domain containing protein 7a5)
  • Length: 852  
  • Mass: 96639
  • Tissue specificity: Preferentially expressed in metastasizing tumors. {ECO
• Sequence:

  MLITERKHFRSGRIAQSMSEANLIDMEAGKLSKSCNITECQDPDLLHNWPDAFTLRGNNASKVANPFWNQLSASN
  PFLDDITQLRNNRKRNNISILKEDPFLFCREIENGNSFDSSGDELDVHQLLRQTSSRNSGRSKSVSELLDILDDT
  AHAHQSIHNSDQILLHDLEWLKNDREAYKMAWLSQRQLARSCLDLNTISQSPGWAQTQLAEVTIACKVNHQGGSV
  QLPESDITVHVPQGHVAVGEFQEVSLRAFLDPPHMLNHDLSCTVSPLLEIMLGNLNTMEALLLEMKIGAEVRKDP
  FSQVMTEMVCLHSLGKEGPFKVLSNCYIYKDTIQVKLIDLSQVMYLVVAAQAKALPSPAATIWDYIHKTTSIGIY
  GPKYIHPSFTVVLTVCGHNYMPGQLTISDIKKGGKNISPVVFQLWGKQSFLLDKPQDLSISIFSCDPDFEVKTEG
  ERKEIKQKQLEAGEVVHQQFLFSLVEHREMHLFDFCVQVEPPNGEPVAQFSITTPDPTPNLKRLSNLPGYLQKKE
  EIKSAPLSPKILVKYPTFQDKTLNFSNYGVTLKAVLRQSKIDYFLEYFKGDTIALLGEGKVKAIGQSKVKEWYVG
  VLRGKIGLVHCKNVKVISKEQVMFMSDSVFTTRNLLEQIVLPLKKLTYIYSVVLTLVSEKVYDWKVLADVLGYSH
  LSLEDFDQIQADKESEKVSYVIKKLKEDCHTERNTRKFLYELIVALLKMDCQELVARLIQEAAVLTSAVKLGKGW
  RELAEKLVRLTKQQMEAYEIPHRGNTGDVAVEMMWKPAYDFLYTWSAHYGNNYRDVLQDLQSALDRMKNPVTKHW
  RELTGVLILVNSLEVLRVTAFSTSEEV

• Structural information:
  • Protein Domains: (212..34-)
    (/note="ZU5-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00485-)
    (549..61-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR001452  IPR000906  
  • Prosite: PS50002 PS51145
  • STRING: ENSP00000383185
• Other Databases: GeneCards:  MACC1  Malacards:  MACC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0051781	positive regulation of cell division	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0007165	signal transduction	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R