• Gene id: 57706

Gene Summary

• Gene Symbol: DENND1A   Gene   UCSC   Ensembl
• Aliases: FAM31A, KIAA1608
• Gene name: DENN domain containing 1A
• Alternate names: DENN domain-containing protein 1A, DENN/MADD domain containing 1A, connecdenn 1,
• Gene location: 9q33.3 (123930157: 123379653)     Exons: 30     NC_000009.12
• Gene summary(Entrez): Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase
• OMIM: 613633

Protein Summary

• Protein general information: Q8TEH3  
  • Name: DENN domain containing protein 1A (Connecdenn 1) (Connecdenn) (Protein FAM31A)
  • Length: 1009  
  • Mass: 110577
• Sequence:

  MGSRIKQNPETTFEVYVEVAYPRTGGTLSDPEVQRQFPEDYSDQEVLQTLTKFCFPFYVDSLTVSQVGQNFTFVL
  TDIDSKQRFGFCRLSSGAKSCFCILSYLPWFEVFYKLLNILADYTTKRQENQWNELLETLHKLPIPDPGVSVHLS
  VHSYFTVPDTRELPSIPENRNLTEYFVAVDVNNMLHLYASMLYERRILIICSKLSTLTACIHGSAAMLYPMYWQH
  VYIPVLPPHLLDYCCAPMPYLIGIHLSLMEKVRNMALDDVVILNVDTNTLETPFDDLQSLPNDVISSLKNRLKKV
  STTTGDGVARAFLKAQAAFFGSYRNALKIEPEEPITFCEEAFVSHYRSGAMRQFLQNATQLQLFKQFIDGRLDLL
  NSGEGFSDVFEEEINMGEYAGSDKLYHQWLSTVRKGSGAILNTVKTKANPAMKTVYKFAKDHAKMGIKEVKNRLK
  QKDIAENGCAPTPEEQLPKTAPSPLVEAKDPKLREDRRPITVHFGQVRPPRPHVVKRPKSNIAVEGRRTSVPSPE
  QPQPYRTLRESDSAEGDEAESPEQQVRKSTGPVPAPPDRAASIDLLEDVFSNLDMEAALQPLGQAKSLEDLRAPK
  DLREQPGTFDYQRLDLGGSERSRGVTVALKLTHPYNKLWSLGQDDMAIPSKPPAASPEKPSALLGNSLALPRRPQ
  NRDSILNPSDKEEVPTPTLGSITIPRPQGRKTPELGIVPPPPIPRPAKLQAAGAALGDVSERLQTDRDRRAALSP
  GLLPGVVPQGPTELLQPLSPGPGAAGTSSDALLALLDPLSTAWSGSTLPSRPATPNVATPFTPQFSFPPAGTPTP
  FPQPPLNPFVPSMPAAPPTLPLVSTPAGPFGAPPASLGPAFASGLLLSSAGFCAPHRSQPNLSALSMPNLFGQMP
  MGTHTSPLQPLGPPAVAPSRIRTLPLARSSARAAETKQGLALRPGDPPLLPPRPPQGLEPTLQPSAPQQARDPFE
  DLLQKTKQDVSPSPALAPAPDSVEQLRKQWETFE

• Structural information:
  • Protein Domains: (13..14-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (162..29-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (300..37-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304"-)
  • Interpro: IPR001194  IPR005112  IPR040032  IPR037516  IPR005113  
  • Prosite: PS50211
  • PDB: 6EKK
  • PDBsum: 6EKK
  • STRING: ENSP00000362727
• Other Databases: GeneCards:  DENND1A  Malacards:  DENND1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030136	clathrin-coated vesicle	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0006897	endocytosis	IBA	biological process
GO:1901981	phosphatidylinositol phosphate binding	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0032456	endocytic recycling	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0032456	endocytic recycling	ISS	biological process
GO:0030665	clathrin-coated vesicle membrane	ISS	cellular component
GO:1901981	phosphatidylinositol phosphate binding	ISS	molecular function
GO:0006897	endocytosis	IMP	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	ISS	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0032483	regulation of Rab protein signal transduction	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:1901981	phosphatidylinositol phosphate binding	IEA	molecular function
GO:0032456	endocytic recycling	IEA	biological process
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq