• Gene id: 163486

Gene Summary

• Gene Symbol: DENND1B   Gene   UCSC   Ensembl
• Aliases: C1ORF18, C1orf218, FAM31B
• Gene name: DENN domain containing 1B
• Alternate names: DENN domain-containing protein 1B, DENN/MADD domain containing 1B, connecdenn 2, family with sequence similarity 31, member B,
• Gene location: 1q31.3 (197782137: 197504747)     Exons: 5     NC_000001.11
• 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 DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase
• OMIM: 613292

Protein Summary

• Protein general information: Q6P3S1  
  • Name: DENN domain containing protein 1B (Connecdenn 2) (Protein FAM31B)
  • Length: 775  
  • Mass: 86552
  • Tissue specificity: Highly expressed in dendritic and natural killer cells and at lower levels in other myeloid lineage cells and in pituitary. Significantly up-regulated in effector memory T-cells as compared with naive T-cells. {ECO
• Sequence:

  MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTD
  IESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSVN
  QEIFIACEQVLKDQPALVPHSYFIAPDVTGLPTIPESRNLTEYFVAVDVNNMLQLYASMLHERRIVIISSKLSTL
  TACIHGSAALLYPMYWQHIYIPVLPPHLLDYCCAPMPYLIGIHSSLIERVKNKSLEDVVMLNVDTNTLESPFSDL
  NNLPSDVVSALKNKLKKQSTATGDGVARAFLRAQAALFGSYRDALRYKPGEPITFCEESFVKHRSSVMKQFLETA
  INLQLFKQFIDGRLAKLNAGRGFSDVFEEEITSGGFCGGNPRSYQQWVHTVKKGGALFNTAMTKATPAVRTAYKF
  AKNHAKLGLKEVKSKLKHKENEEDYGTCSSSVQYTPVYKLHNEKGGNSEKRKLAQARLKRPLKSLDGALYDDEDD
  DDIERASKLSSEDGEEASAYLYESDDSVETRVKTPYSGEMDLLGEILDTLSTHSSDQGKLAAAKSLDFFRSMDDI
  DYKPTNKSNAPSENNLAFLCGGSGDQAEWNLGQDDSALHGKHLPPSPRKRVSSSGLTDSLFILKEENSNKHLGAD
  NVSDPTSGLDFQLTSPEVSQTDKGKTEKRETLSQISDDLLIPGLGRHSSTFVPWEKEGKEAKETSEDIGLLHEVV
  SLCHMTSDFQQSLNISDKNTNGNQT

• Structural information:
  • Protein Domains: (14..14-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (180..31-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (318..39-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304"-)
  • Interpro: IPR001194  IPR005112  IPR040032  IPR037516  IPR005113  
  • Prosite: PS50211
  • PDB: 3TW8
  • PDBsum: 3TW8
  • STRING: ENSP00000479816
• Other Databases: GeneCards:  DENND1B  Malacards:  DENND1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0016607	nuclear speck	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:1901981	phosphatidylinositol phosphate binding	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0035745	T-helper 2 cell cytokine production	IBA	biological process
GO:0032456	endocytic recycling	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0035745	T-helper 2 cell cytokine production	IMP	biological process
GO:0050776	regulation of immune response	ISS	biological process
GO:0032456	endocytic recycling	ISS	biological process
GO:0050852	T cell receptor signaling pathway	IMP	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0032456	endocytic recycling	IEA	biological process
GO:0035745	T-helper 2 cell cytokine production	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray