• Gene id: 128637

Gene Summary

• Gene Symbol: TBC1D20   Gene   UCSC   Ensembl
• Aliases: C20orf140, WARBM4
• Gene name: TBC1 domain family member 20
• Alternate names: TBC1 domain family member 20,
• Gene location: 20p13 (462542: 435479)     Exons: 10     NC_000020.11
• Gene summary(Entrez): This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replica
• OMIM: 611663

SNPs

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

Protein Summary

• Protein general information: Q96BZ9  
  • Name: TBC1 domain family member 20
  • Length: 403  
  • Mass: 45855
• Sequence:

  MALRSAQGDGPTSGHWDGGAEKADFNAKRKKKVAEIHQALNSDPTDVAALRRMAISEGGLLTDEIRRKVWPKLLN
  VNANDPPPISGKNLRQMSKDYQQVLLDVRRSLRRFPPGMPEEQREGLQEELIDIILLILERNPQLHYYQGYHDIV
  VTFLLVVGERLATSLVEKLSTHHLRDFMDPTMDNTKHILNYLMPIIDQVNPELHDFMQSAEVGTIFALSWLITWF
  GHVLSDFRHVVRLYDFFLACHPLMPIYFAAVIVLYREQEVLDCDCDMASVHHLLSQIPQDLPYETLISRAGDLFV
  QFPPSELAREAAAQQQAERTAASTFKDFELASAQQRPDMVLRQRFRGLLRPEDRTKDVLTKPRTNRFVKLAVMGL
  TVALGAAALAVVKSALEWAPKFQLQLFP

• Structural information:
  • Protein Domains: (60..24-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • PDB: 4HL4 4HLQ
  • PDBsum: 4HL4 4HLQ
  • STRING: ENSP00000346139
• Other Databases: GeneCards:  TBC1D20  Malacards:  TBC1D20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0046726	positive regulation by virus of viral protein levels in host cell	IMP	biological process
GO:0044829	positive regulation by host of viral genome replication	IMP	biological process
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034389	lipid droplet organization	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0007030	Golgi organization	IEA	biological process
GO:0001675	acrosome assembly	IEA	biological process
GO:0072520	seminiferous tubule development	IEA	biological process
GO:0070309	lens fiber cell morphogenesis	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0019068	virion assembly	IMP	biological process
GO:1902953	positive regulation of ER to Golgi vesicle-mediated transport	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process
GO:0090110	COPII-coated vesicle cargo loading	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function

Diseases

Associated diseases	References
Warburg micro syndrome	KEGG:H00792
Warburg micro syndrome	KEGG:H00792
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray