TBC1D3E (TBC1 domain family member 3E) - Rat Genome Database

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Gene: TBC1D3E (TBC1 domain family member 3E) Homo sapiens
Analyze
No known orthologs.
Symbol: TBC1D3E
Name: TBC1 domain family member 3E
RGD ID: 10059095
HGNC Page HGNC:27071
Description: Predicted to enable GTPase activator activity. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PRC17; Rab GTPase-activating protein PRC17; TBC1 domain family member 3; TBC1 domain family member-like; TBC1 domain family, member 3E; TBC1D3; TBC1D3A; TBC1DE3
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381738,124,106 - 38,138,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1738,127,951 - 38,138,868 (+)EnsemblGRCh38hg38GRCh38
Cytogenetic Map17q12NCBI
CHM1_11736,519,533 - 36,530,431 (+)NCBICHM1_1
T2T-CHM13v2.01738,911,265 - 38,922,351 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:16625196   PMID:16863688   PMID:21030649   PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-38225796)x3 copy number gain See cases [RCV000138816] Chr17:36357258..38225796 [GRCh38]
Chr17:34611352..36263019 [GRCh37]
Chr17:31635465..33635633 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36393628)x1 copy number loss See cases [RCV000142004] Chr17:34822466..36393628 [GRCh37]
Chr17:31896579..33647435 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36307773)x1 copy number loss See cases [RCV000142028] Chr17:34822466..36307773 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36350005)x3 copy number gain See cases [RCV000142072] Chr17:34822465..36350005 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36316161)x1 copy number loss See cases [RCV000142104] Chr17:34822466..36316161 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q12(chr17:36446545-38225796)x1 copy number loss See cases [RCV000137918] Chr17:36446545..38225796 [GRCh38]
Chr17:34817422..36263019 [GRCh37]
Chr17:31891535..33635633 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:38019086-38143043)x3 copy number gain See cases [RCV000138874] Chr17:38019086..38143043 [GRCh38]
Chr17:33406244..33635615 [NCBI36]
Chr17:17q12		 likely benign

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 3
Low 179 176 113 28 116 13 309 120 298 15 185 122 16 97 198
Below cutoff 506 508 329 94 352 61 969 407 876 48 371 323 37 206 616

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001291466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC183087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000621587   ⟹   ENSP00000483965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1738,127,951 - 38,138,868 (+)Ensembl
RefSeq Acc Id: NM_001291466   ⟹   NP_001278395
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381738,127,951 - 38,138,868 (+)NCBI
CHM1_11736,519,533 - 36,530,431 (+)NCBI
T2T-CHM13v2.01738,911,435 - 38,922,351 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722254   ⟹   XP_006722317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381738,124,106 - 38,138,868 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054314674   ⟹   XP_054170649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01738,911,395 - 38,922,351 (+)NCBI
RefSeq Acc Id: XM_054314675   ⟹   XP_054170650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01738,911,395 - 38,922,351 (+)NCBI
RefSeq Acc Id: XM_054314676   ⟹   XP_054170651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01738,911,265 - 38,922,351 (+)NCBI
RefSeq Acc Id: XM_054314677   ⟹   XP_054170652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01738,911,266 - 38,922,351 (+)NCBI
RefSeq Acc Id: XM_054314678   ⟹   XP_054170653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01738,911,269 - 38,922,351 (+)NCBI
RefSeq Acc Id: XM_054314679   ⟹   XP_054170654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01738,911,266 - 38,920,424 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_006722317   ⟸   XM_006722254
- Peptide Label: isoform X1
- UniProtKB: A0A087X179 (UniProtKB/Swiss-Prot),   B2R8D7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278395   ⟸   NM_001291466
- UniProtKB: A0A087X179 (UniProtKB/Swiss-Prot),   B2R8D7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483965   ⟸   ENST00000621587
RefSeq Acc Id: XP_054170651   ⟸   XM_054314676
- Peptide Label: isoform X7
- UniProtKB: B2R8D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170652   ⟸   XM_054314677
- Peptide Label: isoform X8
- UniProtKB: A0A0G2JP35 (UniProtKB/TrEMBL),   B2R8D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170654   ⟸   XM_054314679
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054170653   ⟸   XM_054314678
- Peptide Label: isoform X9
- UniProtKB: B2R8D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170650   ⟸   XM_054314675
- Peptide Label: isoform X6
- UniProtKB: B2R8D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170649   ⟸   XM_054314674
- Peptide Label: isoform X6
- UniProtKB: B2R8D7 (UniProtKB/TrEMBL)
Protein Domains
Rab-GAP TBC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A087X179-F1-model_v2 AlphaFold A0A087X179 1-549 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27071 AgrOrtholog
COSMIC TBC1D3E COSMIC
Ensembl Genes ENSG00000278599 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000621587 ENTREZGENE
  ENST00000621587.2 UniProtKB/Swiss-Prot
Gene3D-CATH putative rabgap domain of human tbc1 domain family member 14 like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 1 UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000278599 GTEx
HGNC ID HGNC:27071 ENTREZGENE
Human Proteome Map TBC1D3E Human Proteome Map
InterPro Rab-GAP-TBC_dom UniProtKB/TrEMBL
  Rab-GAP_TBC_sf UniProtKB/TrEMBL
  Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot
KEGG Report hsa:102723859 UniProtKB/Swiss-Prot
NCBI Gene TBC1D3E ENTREZGENE
OMIM 610808 OMIM
PANTHER RAB GTPASE-ACTIVATING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB GTPASE-ACTIVATING PROTEIN 1-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166123742 PharmGKB
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X179 ENTREZGENE
  A0A0G2JP35 ENTREZGENE
  A0A0G2JPY0 ENTREZGENE
  B2R8D7 ENTREZGENE, UniProtKB/TrEMBL
  TBC3E_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D3E  TBC1 domain family member 3E    TBC1 domain family, member 3E  Symbol and/or name change 5135510 APPROVED