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    TBC1D5 TBC1 domain family member 5 [ Homo sapiens (human) ]

    Gene ID: 9779, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TBC1D5provided by HGNC
    Official Full Name
    TBC1 domain family member 5provided by HGNC
    Primary source
    HGNC:HGNC:19166
    See related
    Ensembl:ENSG00000131374 MIM:615740; AllianceGenome:HGNC:19166
    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
    Enables AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in several cellular components, including Atg1/ULK1 kinase complex; autophagosome; and cytoplasmic vesicle membrane. Part of retromer complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.6), brain (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D5 in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (17157162..17742631, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (17159342..17744665, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (17198654..17784123, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phospholipase C like 2 Neighboring gene microRNA 3714 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:17041383-17041908 Neighboring gene Sharpr-MPRA regulatory region 1410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19561 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:17080505-17081704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19562 Neighboring gene PLCL2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19563 Neighboring gene Sharpr-MPRA regulatory region 1226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:17192997-17193498 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:17194853-17195024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:17199910-17200410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:17200411-17200911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:17211116-17211616 Neighboring gene NANOG hESC enhancer GRCh37_chr3:17217563-17218064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19568 Neighboring gene Sharpr-MPRA regulatory region 10783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19570 Neighboring gene MPRA-validated peak4551 silencer Neighboring gene RBIS pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 9690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:17535720-17536296 Neighboring gene ribosomal protein L31 pseudogene 19 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:17588257-17589120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19571 Neighboring gene MPRA-validated peak4555 silencer Neighboring gene MPRA-validated peak4556 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:17734513-17735014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:17735015-17735514 Neighboring gene tRNA-Cys (anticodon GCA) 25-1 Neighboring gene RNA, U7 small nuclear 10 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14125 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:17783809-17784512 Neighboring gene uncharacterized LOC105376975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14128 Neighboring gene uncharacterized LOC124909350

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. The secreted protein kinase CstK from Coxiella burnetii influences vacuole development and interacts with the GTPase-activating host protein TBC1D5. Martinez E, et al. J Biol Chem, 2020 May 22. PMID 32303638, Free PMC Article
    2. Structural and mechanistic insights into regulation of the retromer coat by TBC1d5. Jia D, et al. Nat Commun, 2016 Nov 9. PMID 27827364, Free PMC Article
    3. TBC1D5 controls the GTPase cycle of Rab7b. Borg Distefano M, et al. J Cell Sci, 2018 Sep 3. PMID 30111580
    4. Control of RAB7 activity and localization through the retromer-TBC1D5 complex enables RAB7-dependent mitophagy. Jimenez-Orgaz A, et al. EMBO J, 2018 Jan 17. PMID 29158324, Free PMC Article
    5. Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5. Bärlocher K, et al. Nat Commun, 2017 Nov 16. PMID 29146912, Free PMC Article

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TBC1D5-Catalyzed Cycling of Rab7 Is Required for Retromer-Mediated Human Papillomavirus Trafficking during Virus Entry.
      Title: TBC1D5-Catalyzed Cycling of Rab7 Is Required for Retromer-Mediated Human Papillomavirus Trafficking during Virus Entry.
    2. The secreted protein kinase CstK from Coxiella burnetii influences vacuole development and interacts with the GTPase-activating host protein TBC1D5.
      Title: The secreted protein kinase CstK from Coxiella burnetii influences vacuole development and interacts with the GTPase-activating host protein TBC1D5.
    3. TBC1D5 is a GAP for Rab7b in the control of endosomal transport to the trans-Golgi.
      Title: TBC1D5 controls the GTPase cycle of Rab7b.
    4. RidL is critical for binding of the L. pneumophila effector to the Vps29 retromer subunit and displacement of the regulator TBC1D5.
      Title: Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5.
    5. Control of RAB7 activity and localization through the retromer-TBC1D5 complex enables RAB7-dependent mitophagy.
      Title: Control of RAB7 activity and localization through the retromer-TBC1D5 complex enables RAB7-dependent mitophagy.
    6. Data indicate that TBC1 domain family, member 5 protein (TBC1d5) interacts with retromer and the interaction is important for retromer-mediated receptor trafficking.
      Title: Structural and mechanistic insights into regulation of the retromer coat by TBC1d5.
    7. Single nucleotide polymorphisms in TBC1D5 show associations in Schizophrenia and general cognitive function.
      Title: Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function.
    8. TBC1D5 and the AP2 complex are important novel regulators of the rerouting of ATG9-containing vesicular carriers toward sites of autophagosome formation.
      Title: TBC1D5 and the AP2 complex regulate ATG9 trafficking and initiation of autophagy.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Membrane recruitment of the cargo-selective retromer subcomplex VPS35/29/26 is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.
      Title: Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-10-30)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-10-30)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AP-2 adaptor complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables retromer complex binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Atg1/ULK1 kinase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    part_of retromer complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of retromer complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBC1 domain family member 5

    NCBI Reference Sequences (RefSeq)

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    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_001134381.2 → NP_001127853.1  TBC1 domain family member 5 isoform a

      See identical proteins and their annotated locations for NP_001127853.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 3, 4, and 5 all encode the same isoform (a).
      Source sequence(s)
      AC090644, AK310539, BM976960
      Consensus CDS
      CCDS46770.1
      Related
      ENSP00000402935.2, ENST00000446818.6
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. NM_001349073.2 → NP_001336002.1  TBC1 domain family member 5 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 4, and 5, encodes isoform a.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS46770.1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. NM_001349074.2 → NP_001336003.1  TBC1 domain family member 5 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 3, and 5, encodes isoform a.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS46770.1
      Related
      ENSP00000512418.1, ENST00000696125.1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. NM_001349075.2 → NP_001336004.1  TBC1 domain family member 5 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, and 4, encodes isoform a.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS46770.1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. NM_001349076.2 → NP_001336005.1  TBC1 domain family member 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 2, 7, 8, 9, and 10, encodes isoform b.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS33714.1
      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    6. NM_001349077.2 → NP_001336006.1  TBC1 domain family member 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 2, 6, 8, 9, and 10, encodes isoform b.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS33714.1
      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1
      Related
      ENSP00000398127.4, ENST00000429383.8
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    7. NM_001349078.2 → NP_001336007.1  TBC1 domain family member 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 2, 6, 7, 9, and 10, encodes isoform b.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS33714.1
      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    8. NM_001349079.2 → NP_001336008.1  TBC1 domain family member 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 2, 6, 7, 8, and 10, encodes isoform b.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS33714.1
      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    9. NM_001349080.2 → NP_001336009.1  TBC1 domain family member 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 2, 6, 7, 8, and 9, encodes isoform b.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Consensus CDS
      CCDS33714.1
      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    10. NM_001349081.2 → NP_001336010.1  TBC1 domain family member 5 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) encodes isoform c.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC140076, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:86 → 388
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    11. NM_001349082.2 → NP_001336011.1  TBC1 domain family member 5 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variants 13, 14, 15, and 16, encodes isoform d.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    12. NM_001349083.2 → NP_001336012.1  TBC1 domain family member 5 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 12, 14, 15, and 16, encodes isoform d.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    13. NM_001349084.2 → NP_001336013.1  TBC1 domain family member 5 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variants 12, 13, 15, and 16, encodes isoform d.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    14. NM_001349085.2 → NP_001336014.1  TBC1 domain family member 5 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 12, 13, 14, and 16, encodes isoform d.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC140076, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    15. NM_001349086.2 → NP_001336015.1  TBC1 domain family member 5 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 12, 13, 14, and 15, encodes isoform d.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    16. NM_001349087.2 → NP_001336016.1  TBC1 domain family member 5 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 18, 19, 20, and 21, encodes isoform e.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    17. NM_001349088.2 → NP_001336017.1  TBC1 domain family member 5 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variants 17, 19, 20, and 21, encodes isoform e.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    18. NM_001349089.2 → NP_001336018.1  TBC1 domain family member 5 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19), as well as variants 17, 18, 20, and 21, encodes isoform e.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    19. NM_001349090.2 → NP_001336019.1  TBC1 domain family member 5 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variants 17, 18, 19, and 21, encodes isoform e.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    20. NM_001349091.2 → NP_001336020.1  TBC1 domain family member 5 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variants 17, 18, 19, and 20, encodes isoform e.
      Source sequence(s)
      AC090644, AC090960, AC104451, AC144531
      Conserved Domains (1) summary
      smart00164
      Location:19 → 245
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    21. NM_014744.2 → NP_055559.1  TBC1 domain family member 5 isoform b

      See identical proteins and their annotated locations for NP_055559.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2, 6, 7, 8, 9, and 10 all encode the same isoform (b).
      Source sequence(s)
      AC090644, AC104451, BM976960, D86965
      Consensus CDS
      CCDS33714.1
      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1
      Related
      ENSP00000253692.6, ENST00000253692.11
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      17157162..17742631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449296.1 → XP_047305252.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    2. XM_011534283.4 → XP_011532585.1  TBC1 domain family member 5 isoform X1

      See identical proteins and their annotated locations for XP_011532585.1

      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. XM_047449314.1 → XP_047305270.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    4. XM_047449291.1 → XP_047305247.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    5. XM_047449286.1 → XP_047305242.1  TBC1 domain family member 5 isoform X1

    6. XM_047449301.1 → XP_047305257.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    7. XM_017007556.2 → XP_016863045.1  TBC1 domain family member 5 isoform X1

      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    8. XM_047449303.1 → XP_047305259.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    9. XM_017007555.3 → XP_016863044.1  TBC1 domain family member 5 isoform X1

      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    10. XM_047449299.1 → XP_047305255.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    11. XM_047449288.1 → XP_047305244.1  TBC1 domain family member 5 isoform X1

    12. XM_047449297.1 → XP_047305253.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    13. XM_047449285.1 → XP_047305241.1  TBC1 domain family member 5 isoform X1

    14. XM_047449293.1 → XP_047305249.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    15. XM_011534284.3 → XP_011532586.1  TBC1 domain family member 5 isoform X1

      See identical proteins and their annotated locations for XP_011532586.1

      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    16. XM_047449294.1 → XP_047305250.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    17. XM_047449290.1 → XP_047305246.1  TBC1 domain family member 5 isoform X1

    18. XM_047449308.1 → XP_047305264.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    19. XM_047449317.1 → XP_047305273.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    20. XM_047449287.1 → XP_047305243.1  TBC1 domain family member 5 isoform X1

    21. XM_047449302.1 → XP_047305258.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    22. XM_047449298.1 → XP_047305254.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    23. XM_011534281.2 → XP_011532583.1  TBC1 domain family member 5 isoform X1

      See identical proteins and their annotated locations for XP_011532583.1

      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    24. XM_047449295.1 → XP_047305251.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    25. XM_047449292.1 → XP_047305248.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    26. XM_017007553.3 → XP_016863042.1  TBC1 domain family member 5 isoform X1

      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    27. XM_047449304.1 → XP_047305260.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    28. XM_047449284.1 → XP_047305240.1  TBC1 domain family member 5 isoform X1

    29. XM_047449315.1 → XP_047305271.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    30. XM_047449311.1 → XP_047305267.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    31. XM_047449309.1 → XP_047305265.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    32. XM_047449310.1 → XP_047305266.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    33. XM_047449318.1 → XP_047305274.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    34. XM_047449312.1 → XP_047305268.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    35. XM_047449289.1 → XP_047305245.1  TBC1 domain family member 5 isoform X1

    36. XM_047449319.1 → XP_047305275.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    37. XM_047449306.1 → XP_047305262.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    38. XM_047449316.1 → XP_047305272.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    39. XM_047449305.1 → XP_047305261.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    40. XM_047449313.1 → XP_047305269.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    41. XM_047449300.1 → XP_047305256.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    42. XM_047449322.1 → XP_047305278.1  TBC1 domain family member 5 isoform X3

    43. XM_047449320.1 → XP_047305276.1  TBC1 domain family member 5 isoform X3

    44. XM_047449321.1 → XP_047305277.1  TBC1 domain family member 5 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      17159342..17744665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348556.1 → XP_054204531.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    2. XM_054348542.1 → XP_054204517.1  TBC1 domain family member 5 isoform X1

    3. XM_054348573.1 → XP_054204548.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    4. XM_054348551.1 → XP_054204526.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    5. XM_054348544.1 → XP_054204519.1  TBC1 domain family member 5 isoform X1

    6. XM_054348561.1 → XP_054204536.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    7. XM_054348540.1 → XP_054204515.1  TBC1 domain family member 5 isoform X1

    8. XM_054348563.1 → XP_054204538.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    9. XM_054348547.1 → XP_054204522.1  TBC1 domain family member 5 isoform X1

    10. XM_054348559.1 → XP_054204534.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    11. XM_054348548.1 → XP_054204523.1  TBC1 domain family member 5 isoform X1

    12. XM_054348557.1 → XP_054204532.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    13. XM_054348543.1 → XP_054204518.1  TBC1 domain family member 5 isoform X1

    14. XM_054348553.1 → XP_054204528.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    15. XM_054348539.1 → XP_054204514.1  TBC1 domain family member 5 isoform X1

    16. XM_054348554.1 → XP_054204529.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    17. XM_054348550.1 → XP_054204525.1  TBC1 domain family member 5 isoform X1

    18. XM_054348567.1 → XP_054204542.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    19. XM_054348576.1 → XP_054204551.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    20. XM_054348546.1 → XP_054204521.1  TBC1 domain family member 5 isoform X1

    21. XM_054348562.1 → XP_054204537.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    22. XM_054348558.1 → XP_054204533.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    23. XM_054348545.1 → XP_054204520.1  TBC1 domain family member 5 isoform X1

    24. XM_054348555.1 → XP_054204530.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    25. XM_054348552.1 → XP_054204527.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    26. XM_054348538.1 → XP_054204513.1  TBC1 domain family member 5 isoform X1

    27. XM_054348564.1 → XP_054204539.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    28. XM_054348541.1 → XP_054204516.1  TBC1 domain family member 5 isoform X1

    29. XM_054348574.1 → XP_054204549.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    30. XM_054348570.1 → XP_054204545.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    31. XM_054348568.1 → XP_054204543.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    32. XM_054348569.1 → XP_054204544.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    33. XM_054348577.1 → XP_054204552.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    34. XM_054348571.1 → XP_054204546.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    35. XM_054348549.1 → XP_054204524.1  TBC1 domain family member 5 isoform X1

    36. XM_054348578.1 → XP_054204553.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    37. XM_054348566.1 → XP_054204541.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    38. XM_054348575.1 → XP_054204550.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    39. XM_054348565.1 → XP_054204540.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    40. XM_054348572.1 → XP_054204547.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    41. XM_054348560.1 → XP_054204535.1  TBC1 domain family member 5 isoform X2

      UniProtKB/Swiss-Prot
      A6NP25, C9JP52, Q92609
      UniProtKB/TrEMBL
      B9A6K1

    42. XM_054348581.1 → XP_054204556.1  TBC1 domain family member 5 isoform X3

    43. XM_054348579.1 → XP_054204554.1  TBC1 domain family member 5 isoform X3

    44. XM_054348580.1 → XP_054204555.1  TBC1 domain family member 5 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001134380.1: Suppressed sequence

      Description
      NM_001134380.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92609.1 GenPept UniProtKB/Swiss-Prot:Q92609

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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