U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TBC1D3L TBC1 domain family member 3L [ Homo sapiens (human) ]

Gene ID: 101060376, updated on 26-Oct-2022

Summary

Official Symbol
TBC1D3Lprovided by HGNC
Official Full Name
TBC1 domain family member 3Lprovided by HGNC
Primary source
HGNC:HGNC:51246
See related
Ensembl:ENSG00000274512 AllianceGenome:HGNC:51246
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 12.8), skin (RPKM 9.9) and 24 other tissues See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TBC1D3L in Genome Data Viewer
Location:
17q12
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37978155..37989060, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37427057..37437961, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36284005..36294915)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723608 Neighboring gene nitric oxide synthase 2, inducible pseudogene Neighboring gene TBC1 domain family member 3D Neighboring gene uncharacterized LOC102723819

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ16441, FLJ38066

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
TBC1 domain family member 3L

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001291459.2NP_001278388.1  TBC1 domain family member 3L isoform 2

    See identical proteins and their annotated locations for NP_001278388.1

    Status: VALIDATED

    Source sequence(s)
    AC243569
    Consensus CDS
    CCDS74043.1
    UniProtKB/Swiss-Prot
    B9A6J9
    Related
    ENSP00000479577.1, ENST00000617678.2
    Conserved Domains (2) summary
    PHA03381
    Location:356468
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:99312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_001369499.1NP_001356428.1  TBC1 domain family member 3L isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC243569
    Conserved Domains (2) summary
    PHA03381
    Location:417529
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:160373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_001369500.1NP_001356429.1  TBC1 domain family member 3L isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC243569
    Consensus CDS
    CCDS74043.1
    UniProtKB/Swiss-Prot
    B9A6J9
    Related
    ENSP00000481508.1, ENST00000612727.5
    Conserved Domains (2) summary
    PHA03381
    Location:356468
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:99312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. NM_001369501.1NP_001356430.1  TBC1 domain family member 3L isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC243569
    UniProtKB/TrEMBL
    B3KTC5
    Conserved Domains (2) summary
    PHA03381
    Location:334446
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:99290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_170630.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC243569

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    37978155..37989060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524175.3XP_011522477.1  TBC1 domain family member 3L isoform X1

    See identical proteins and their annotated locations for XP_011522477.1

    Conserved Domains (2) summary
    PHA03381
    Location:417529
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:160373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_006722243.3XP_006722306.1  TBC1 domain family member 3L isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:160351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_006722247.3XP_006722310.1  TBC1 domain family member 3L isoform X3

    See identical proteins and their annotated locations for XP_006722310.1

    Conserved Domains (1) summary
    smart00164
    Location:160361
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    37427057..37437961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)