• Gene id: 201627

Gene Summary

• Gene Symbol: DENND6A   Gene   UCSC   Ensembl
• Aliases: AFI1A, FAM116A
• Gene name: DENN domain containing 6A
• Alternate names: protein DENND6A, DENN domain-containing protein 6A, DENN/MADD domain containing 6A, family with sequence similarity 116, member A, protein FAM116A,
• Gene location: 3p14.3 (6372793: 6375249)     Exons: 5     NC_000019.10

Protein Summary

• Protein general information: Q8IWF6  
  • Name: Protein DENND6A (DENN domain containing protein 6A)
  • Length: 608  
  • Mass: 69575
• Sequence:

  MALRGPAGLGPGSRRPLDEAVAGAEGREAPALVAAGGAPEDDEEDDGRGRGLLRWDSFSAWLHCVCVVGFDLELG
  QAVEVIYPQHSKLTDREKTNICYLSFPDSNSGCLGDTQFCFRFRQSSGRRVSLHCLLDQFDKDLPVYLKKDPAYF
  YGYVYFRQVRDKTLKRGYFQKSLVLISKLPYIHFFHTVLKQIAPEYFEKNEPYLEAACNDVDRWPAPVPGKTLHL
  PIMGVVMKVRIPTCHDKPGTTQIVQLTQQVDTNISVILPTVHEVDIFRCFCPVFLHSQMLWELVLLGEPLVVMAP
  SPSESSETVLALVNCISPLKYFSDFRPYFTIHDSEFKEYTTRTQAPPSVILGVTNPFFAKTLQHWPHIIRIGDLK
  PTGEIPKQVKVKKLKNLKTLDSKPGVYTSYKPYLNRDEEIIKQLQKGVQQKRPSEAQSVILRRYFLELTQSFIIP
  LERYVASLMPLQKSISPWKSPPQLRQFLPEEFMKTLEKTGPQLTSRIKGDWIGLYRHFLKSPNFDGWFKTRRKEM
  TQKLEALHLEALCEEDLLLWIQKHTEVETVDLVLKLKNKLLQADREHLPVKPDTMEKLRTHIDAIILALPEDLQG
  ILLKTGMT

• Structural information:
  • Protein Domains: (63..24-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (273..39-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (395..52-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304"-)
  • Interpro: IPR018307  IPR024224  IPR037516  
  • Prosite: PS50211
  • STRING: ENSP00000311401
• Other Databases: GeneCards:  DENND6A  Malacards:  DENND6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0055037	recycling endosome	IBA	cellular component
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IDA	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

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