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    TBC1D14 TBC1 domain family member 14 [ Homo sapiens (human) ]

    Gene ID: 57533, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TBC1D14provided by HGNC
    Official Full Name
    TBC1 domain family member 14provided by HGNC
    Primary source
    HGNC:HGNC:29246
    See related
    Ensembl:ENSG00000132405 MIM:614855; AllianceGenome:HGNC:29246
    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 protein kinase binding activity. Involved in negative regulation of autophagy; recycling endosome to Golgi transport; and regulation of autophagosome assembly. Located in several cellular components, including Golgi apparatus; autophagosome; and recycling endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 20.3), brain (RPKM 18.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D14 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6909466..7033114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6881403..7004950)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6911193..7034841)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6765388-6765903 Neighboring gene uncharacterized LOC105374367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15238 Neighboring gene KIAA0232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6894345-6894901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6902995-6903643 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:6903699-6903925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6917519-6918483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6918484-6919448 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:6937591-6937729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15241 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6941327-6941904 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6941905-6942482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6944645-6945470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6945471-6946296 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6946297-6947122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6961085-6961585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6972505-6973142 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6974420-6975057 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:6975058-6975696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6987679-6988438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6988439-6989198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21269 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7009000-7009638 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7009639-7010278 Neighboring gene RN7SK pseudogene 292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7018059-7018562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7017555-7018058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7023455-7024032 Neighboring gene uncharacterized LOC100129931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7048917-7049418 Neighboring gene cilia and flagella associated protein 184 Neighboring gene transcriptional adaptor 2B

    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 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. First crystallographic models of human TBC domains in the context of a family-wide structural analysis. Tempel W, et al. Proteins, 2008 Apr. PMID 18186464
    2. TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic. Lamb CA, et al. EMBO J, 2016 Feb 1. PMID 26711178, Free PMC Article
    3. TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes. Longatti A, et al. J Cell Biol, 2012 May 28. PMID 22613832, Free PMC Article
    4. Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways. Fuchs E, et al. J Cell Biol, 2007 Jun 18. PMID 17562788, Free PMC Article
    5. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TRAPPC8 modulates autophagy and secretory trafficking and is required for TBC1D14 to bind TRAPPIII.
      Title: TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic.
    2. TBC1D14 binds activated Rab11 but is not a GAP for Rab11, and loss of Rab11 prevents TBC1D14-induced tubulation of recycling endosomes.
      Title: TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes.
    3. 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.
    4. crystal structures of the first two mammalian TBCs, human TBC1 family members 22A (TBC1D22A) and 14 (TBC1D14)
      Title: First crystallographic models of human TBC domains in the context of a family-wide structural analysis.
    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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32400, KIAA1322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in recycling endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 14

    NCBI Reference Sequences (RefSeq)

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    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_001113361.2 → NP_001106832.1  TBC1 domain family member 14 isoform a

      See identical proteins and their annotated locations for NP_001106832.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AA724344, AB037743, BC041167, DA317176, DA492919
      Consensus CDS
      CCDS3394.2
      UniProtKB/Swiss-Prot
      B9A6L5, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3, Q9P2M4
      Related
      ENSP00000404041.1, ENST00000448507.5
      Conserved Domains (2) summary
      COG5210
      Location:225 → 635
      COG5210; GTPase-activating protein [General function prediction only]
      pfam00566
      Location:464 → 630
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_001113363.2 → NP_001106834.1  TBC1 domain family member 14 isoform b

      See identical proteins and their annotated locations for NP_001106834.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks part of the 5' coding region, contains an alternate 5'-terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AA724344, AB037743, BC041167, BQ230652
      Consensus CDS
      CCDS47006.1
      UniProtKB/Swiss-Prot
      Q9P2M4
      Related
      ENSP00000388886.2, ENST00000451522.6
      Conserved Domains (1) summary
      pfam00566
      Location:124 → 350
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. NM_001286805.2 → NP_001273734.1  TBC1 domain family member 14 isoform c

      See identical proteins and their annotated locations for NP_001273734.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks part of the 5' coding region, contains an alternate 5'-terminal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AA724344, AB037743, BC041167, DC399948
      Consensus CDS
      CCDS75104.1
      UniProtKB/TrEMBL
      B4DHF4, F5GXK4
      Related
      ENSP00000405875.3, ENST00000446947.6
      Conserved Domains (1) summary
      smart00164
      Location:58 → 290
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. NM_001330638.2 → NP_001317567.1  TBC1 domain family member 14 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA724344, AB037743, BC041167, DB241199, DC399948
      Consensus CDS
      CCDS82909.1
      UniProtKB/TrEMBL
      B9A071
      Related
      ENSP00000386343.1, ENST00000410031.5
      Conserved Domains (1) summary
      smart00164
      Location:170 → 402
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. NM_020773.3 → NP_065824.2  TBC1 domain family member 14 isoform a

      See identical proteins and their annotated locations for NP_065824.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AA724344, AB037743, BC041167, DA754761
      Consensus CDS
      CCDS3394.2
      UniProtKB/Swiss-Prot
      B9A6L5, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3, Q9P2M4
      Related
      ENSP00000386921.4, ENST00000409757.9
      Conserved Domains (2) summary
      COG5210
      Location:225 → 635
      COG5210; GTPase-activating protein [General function prediction only]
      pfam00566
      Location:464 → 630
      RabGAP-TBC; Rab-GTPase-TBC domain

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      6909466..7033114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513508.2 → XP_011511810.1  TBC1 domain family member 14 isoform X1

      See identical proteins and their annotated locations for XP_011511810.1

      Conserved Domains (1) summary
      smart00164
      Location:398 → 664
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. XM_017008477.2 → XP_016863966.1  TBC1 domain family member 14 isoform X3

      Conserved Domains (1) summary
      smart00164
      Location:398 → 606
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. XM_011513507.4 → XP_011511809.1  TBC1 domain family member 14 isoform X1

      See identical proteins and their annotated locations for XP_011511809.1

      Conserved Domains (1) summary
      smart00164
      Location:398 → 664
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. XM_005247986.4 → XP_005248043.1  TBC1 domain family member 14 isoform X3

      Conserved Domains (1) summary
      smart00164
      Location:398 → 606
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. XM_047416001.1 → XP_047271957.1  TBC1 domain family member 14 isoform X4

    6. XM_047416002.1 → XP_047271958.1  TBC1 domain family member 14 isoform X5

    7. XM_047416004.1 → XP_047271960.1  TBC1 domain family member 14 isoform X7

    8. XM_006713895.4 → XP_006713958.1  TBC1 domain family member 14 isoform X2

      See identical proteins and their annotated locations for XP_006713958.1

      UniProtKB/Swiss-Prot
      B9A6L5, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3, Q9P2M4
      Conserved Domains (2) summary
      COG5210
      Location:225 → 635
      COG5210; GTPase-activating protein [General function prediction only]
      pfam00566
      Location:464 → 630
      RabGAP-TBC; Rab-GTPase-TBC domain

    9. XM_047416000.1 → XP_047271956.1  TBC1 domain family member 14 isoform X2

      UniProtKB/Swiss-Prot
      B9A6L5, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3, Q9P2M4

    10. XM_017008480.2 → XP_016863969.1  TBC1 domain family member 14 isoform X10

      UniProtKB/TrEMBL
      B4DHF4

    11. XM_047416003.1 → XP_047271959.1  TBC1 domain family member 14 isoform X6

    12. XM_011513513.3 → XP_011511815.1  TBC1 domain family member 14 isoform X8

      Conserved Domains (1) summary
      smart00164
      Location:118 → 384
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    13. XM_017008479.2 → XP_016863968.1  TBC1 domain family member 14 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      6881403..7004950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350572.1 → XP_054206547.1  TBC1 domain family member 14 isoform X1

    2. XM_054350576.1 → XP_054206551.1  TBC1 domain family member 14 isoform X3

    3. XM_054350571.1 → XP_054206546.1  TBC1 domain family member 14 isoform X1

    4. XM_054350575.1 → XP_054206550.1  TBC1 domain family member 14 isoform X3

    5. XM_054350578.1 → XP_054206553.1  TBC1 domain family member 14 isoform X7

    6. XM_054350574.1 → XP_054206549.1  TBC1 domain family member 14 isoform X2

      UniProtKB/Swiss-Prot
      B9A6L5, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3, Q9P2M4

    7. XM_054350573.1 → XP_054206548.1  TBC1 domain family member 14 isoform X2

      UniProtKB/Swiss-Prot
      B9A6L5, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3, Q9P2M4

    8. XM_054350577.1 → XP_054206552.1  TBC1 domain family member 14 isoform X6

    9. XM_054350579.1 → XP_054206554.1  TBC1 domain family member 14 isoform X8

    10. XM_054350580.1 → XP_054206555.1  TBC1 domain family member 14 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2M4.3 GenPept UniProtKB/Swiss-Prot:Q9P2M4

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