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    Tbc1d1 TBC1 domain family, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 57915, updated on 23-Jun-2021

    Summary

    Official Symbol
    Tbc1d1provided by MGI
    Official Full Name
    TBC1 domain family, member 1provided by MGI
    Primary source
    MGI:MGI:1889508
    See related
    Ensembl:ENSMUSG00000029174
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    No; Nob; Nob1; Tbc1; Nobq1; AI385682; AW555803; mKIAA1108; 1110062G02Rik
    Expression
    Ubiquitous expression in testis adult (RPKM 11.3), bladder adult (RPKM 9.9) and 27 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Tbc1d1 in Genome Data Viewer
    Location:
    5 C3.1; 5 32.8 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (64313648..64508829)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (64156305..64351486)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (64551450..64742725)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene phosphoglucomutase 2 Neighboring gene predicted gene, 22559 Neighboring gene predicted gene 15824 Neighboring gene predicted gene, 38634 Neighboring gene peptidylprolyl isomerase A pseudogene 22 Neighboring gene predicted gene 43837 Neighboring gene RIKEN cDNA 1700027F09 gene Neighboring gene predicted gene, 31363

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    New Zealand obese QTL 1
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC106104, MGC144097

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    TBC1 domain family member 1
    Names
    tre-2/USP6, BUB2, cdc16) domain family, member 1

    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_001289514.1NP_001276443.1  TBC1 domain family member 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC131679
      Consensus CDS
      CCDS71593.1
      UniProtKB/TrEMBL
      E9Q6L4
      Related
      ENSMUSP00000113643.2, ENSMUST00000119756.6
      Conserved Domains (3) summary
      smart00164
      Location:662879
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01269
      Location:35236
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:560610
      DUF3350; Domain of unknown function (DUF3350)
    2. NM_001310611.1NP_001297540.1  TBC1 domain family member 1 isoform 3

      See identical proteins and their annotated locations for NP_001297540.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains two alternate in-frame exons compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AC131679, AC132271
      Consensus CDS
      CCDS80287.1
      UniProtKB/Swiss-Prot
      Q60949
      Related
      ENSMUSP00000044577.7, ENSMUST00000043893.13
      Conserved Domains (5) summary
      smart00164
      Location:8841101
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:11021236
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:782832
      DUF3350; Domain of unknown function (DUF3350)
      cl17171
      Location:16164
      PH-like; Pleckstrin homology-like domain
    3. NM_019636.3NP_062610.2  TBC1 domain family member 1 isoform 1

      See identical proteins and their annotated locations for NP_062610.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC131679, AC132271
      Consensus CDS
      CCDS39094.1
      UniProtKB/TrEMBL
      Q3U3T9
      Related
      ENSMUSP00000098756.3, ENSMUST00000101195.9
      Conserved Domains (5) summary
      smart00164
      Location:7911008
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:10091143
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:689739
      DUF3350; Domain of unknown function (DUF3350)
      cl17171
      Location:16164
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      64313648..64508829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240758.3XP_011239060.1  TBC1 domain family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011239060.1

      UniProtKB/Swiss-Prot
      Q60949
      Conserved Domains (5) summary
      smart00164
      Location:8841101
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:11021236
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:782832
      DUF3350; Domain of unknown function (DUF3350)
      cl17171
      Location:16164
      PH-like; Pleckstrin homology-like domain
    2. XM_006504036.4XP_006504099.1  TBC1 domain family member 1 isoform X2

      Conserved Domains (5) summary
      smart00164
      Location:8471064
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:10651199
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:745795
      DUF3350; Domain of unknown function (DUF3350)
      cl17171
      Location:16164
      PH-like; Pleckstrin homology-like domain
    3. XM_036165386.1XP_036021279.1  TBC1 domain family member 1 isoform X5

      Conserved Domains (5) summary
      smart00164
      Location:754971
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:9721106
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00934
      Location:21150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:647702
      DUF3350; Domain of unknown function (DUF3350)
    4. XM_011240757.4XP_011239059.1  TBC1 domain family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011239059.1

      UniProtKB/Swiss-Prot
      Q60949
      Conserved Domains (5) summary
      smart00164
      Location:8841101
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:11021236
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:782832
      DUF3350; Domain of unknown function (DUF3350)
      cl17171
      Location:16164
      PH-like; Pleckstrin homology-like domain
    5. XM_006504037.5XP_006504100.1  TBC1 domain family member 1 isoform X3

      See identical proteins and their annotated locations for XP_006504100.1

      UniProtKB/TrEMBL
      Q3U3T9
      Related
      ENSMUSP00000112493.2, ENSMUST00000121370.8
      Conserved Domains (5) summary
      smart00164
      Location:7911008
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:10091143
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:164365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:689739
      DUF3350; Domain of unknown function (DUF3350)
      cl17171
      Location:16164
      PH-like; Pleckstrin homology-like domain
    6. XM_006504038.5XP_006504101.1  TBC1 domain family member 1 isoform X4

      Conserved Domains (4) summary
      smart00164
      Location:755972
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:9731107
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:35236
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:653703
      DUF3350; Domain of unknown function (DUF3350)
    7. XM_030254740.2XP_030110600.1  TBC1 domain family member 1 isoform X6

      Conserved Domains (4) summary
      smart00164
      Location:659876
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:8771011
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01269
      Location:43140
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:557607
      DUF3350; Domain of unknown function (DUF3350)
    8. XM_011240759.3XP_011239061.1  TBC1 domain family member 1 isoform X7

      Conserved Domains (3) summary
      smart00164
      Location:116333
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG4372
      Location:352468
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam11830
      Location:1464
      DUF3350; Domain of unknown function (DUF3350)
    9. XM_036165387.1XP_036021280.1  TBC1 domain family member 1 isoform X8

      Related
      ENSMUST00000140960.3
      Conserved Domains (3) summary
      smart00164
      Location:115332
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG4372
      Location:351467
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam11830
      Location:863
      DUF3350; Domain of unknown function (DUF3350)
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