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 replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated wi... See more...

Aliases for TBC1D20 Gene

Aliases for TBC1D20 Gene

  • TBC1 Domain Family Member 20 2 3 4 5
  • C20orf140 3 4
  • Chromosome 20 Open Reading Frame 140 2
  • TBC1 Domain Family, Member 20 2
  • WARBM4 3

External Ids for TBC1D20 Gene

Previous HGNC Symbols for TBC1D20 Gene

  • C20orf140

Previous GeneCards Identifiers for TBC1D20 Gene

  • GC20M000367
  • GC20M000416

Summaries for TBC1D20 Gene

Entrez Gene Summary for TBC1D20 Gene

  • 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 replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for TBC1D20 Gene

TBC1D20 (TBC1 Domain Family Member 20) is a Protein Coding gene. Diseases associated with TBC1D20 include Warburg Micro Syndrome 4 and Warburg Micro Syndrome 1. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab GTPase binding.

UniProtKB/Swiss-Prot Summary for TBC1D20 Gene

  • GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Additional gene information for TBC1D20 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D20 Gene

Genomics for TBC1D20 Gene

GeneHancer (GH) Regulatory Elements for TBC1D20 Gene

Promoters and enhancers for TBC1D20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D20

Top Transcription factor binding sites by QIAGEN in the TBC1D20 gene promoter:
  • AML1a
  • ATF6
  • C/EBPalpha
  • GATA-3
  • POU2F1
  • POU2F1a
  • Sox5
  • Sox9
  • STAT3
  • STAT5B

Genomic Locations for TBC1D20 Gene

Genomic Locations for TBC1D20 Gene
chr20:435,477-462,553
(GRCh38/hg38)
Size:
27,077 bases
Orientation:
Minus strand
chr20:416,124-443,197
(GRCh37/hg19)
Size:
27,074 bases
Orientation:
Minus strand

Genomic View for TBC1D20 Gene

Genes around TBC1D20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D20 Gene

Proteins for TBC1D20 Gene

  • Protein details for TBC1D20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BZ9-TBC20_HUMAN
    Recommended name:
    TBC1 domain family member 20
    Protein Accession:
    Q96BZ9
    Secondary Accessions:
    • A8K6I3
    • B9A6M1
    • Q5JWQ7
    • Q6ZSY8
    • Q96NE1
    • Q9BYM7
    • Q9H140

    Protein attributes for TBC1D20 Gene

    Size:
    403 amino acids
    Molecular mass:
    45855 Da
    Quaternary structure:
    • (Microbial infection) Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.
    Miscellaneous:
    • [Isoform 2]: May be due to intron retention.

    Three dimensional structures from OCA and Proteopedia for TBC1D20 Gene

    Alternative splice isoforms for TBC1D20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D20 Gene

Post-translational modifications for TBC1D20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D20 Gene

No data available for DME Specific Peptides for TBC1D20 Gene

Domains & Families for TBC1D20 Gene

Gene Families for TBC1D20 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TBC1D20 Gene

Blocks:
  • RabGAP/TBC domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D20 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 20 (B9A6M1_HUMAN)
  • TBC1 domain family member 20 (TBC20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96BZ9

UniProtKB/Swiss-Prot:

TBC20_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
genes like me logo Genes that share domains with TBC1D20: view

Function for TBC1D20 Gene

Molecular function for TBC1D20 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Phenotypes From GWAS Catalog for TBC1D20 Gene

Gene Ontology (GO) - Molecular Function for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA,IDA 17684057
GO:0005515 protein binding IPI 17684057
GO:0017137 Rab GTPase binding IPI 17684057
genes like me logo Genes that share ontologies with TBC1D20: view
genes like me logo Genes that share phenotypes with TBC1D20: view

Human Phenotype Ontology for TBC1D20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D20 Gene

Localization for TBC1D20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D20 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D20 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22491470
GO:0005789 endoplasmic reticulum membrane IBA,IDA 17684057
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IDA 17684057
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBC1D20 Gene

Pathways & Interactions for TBC1D20 Gene

genes like me logo Genes that share pathways with TBC1D20: view

Gene Ontology (GO) - Biological Process for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0002088 lens development in camera-type eye IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IMP 21680502
GO:0007030 Golgi organization IMP,IEA 17684057
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for SIGNOR curated interactions for TBC1D20 Gene

Drugs & Compounds for TBC1D20 Gene

No Compound Related Data Available

Transcripts for TBC1D20 Gene

mRNA/cDNA for TBC1D20 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP6:
SP7: - - -
SP8: -
SP9:
SP10:

Relevant External Links for TBC1D20 Gene

GeneLoc Exon Structure for
TBC1D20

Expression for TBC1D20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D20 Gene

Protein differential expression in normal tissues from HIPED for TBC1D20 Gene

This gene is overexpressed in Bone (28.2) and Peripheral blood mononuclear cells (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBC1D20 Gene



Protein tissue co-expression partners for TBC1D20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D20

SOURCE GeneReport for Unigene cluster for TBC1D20 Gene:

Hs.590876

Evidence on tissue expression from TISSUES for TBC1D20 Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • penis
  • testicle
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TBC1D20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D20 Gene

Orthologs for TBC1D20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D20 31 30
  • 99.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D20 31 30
  • 92.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D20 31 30
  • 92.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d20 17 31 30
  • 89.3 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d20 30
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D20 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves TBC1D20 31 30
  • 80.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D20 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d20.1 30
  • 73.89 (n)
Str.10618 30
African clawed frog
(Xenopus laevis)
Amphibia MGC52691 30
zebrafish
(Danio rerio)
Actinopterygii tbc1d20