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TBC1D30 TBC1 domain family member 30 [ Homo sapiens (human) ]

Gene ID: 23329, updated on 2-Mar-2021

Summary

Official Symbol
TBC1D30provided by HGNC
Official Full Name
TBC1 domain family member 30provided by HGNC
Primary source
HGNC:HGNC:29164
See related
Ensembl:ENSG00000111490 MIM:615077
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
Expression
Broad expression in brain (RPKM 3.2), salivary gland (RPKM 1.1) and 21 other tissues See more
Orthologs
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Genomic context

See TBC1D30 in Genome Data Viewer
Location:
12q14.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (64759484..64881033)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65153264..65274813)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Ras association domain family member 3 Neighboring gene microRNA 548c Neighboring gene microRNA 548z Neighboring gene glucosamine (N-acetyl)-6-sulfatase Neighboring gene ribosomal protein L7 pseudogene 39 Neighboring gene long intergenic non-protein coding RNA 2389 Neighboring gene long intergenic non-protein coding RNA 2231 Neighboring gene RNA, U6atac small nuclear 42, pseudogene Neighboring gene uncharacterized LOC107984522

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

Phenotypes

Associated conditions

Description Tests
Common genetic variation and performance on standardized cognitive tests.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0984

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
TBC1 domain family member 30

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_001330186.2NP_001317115.1  TBC1 domain family member 30 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini as isoform 1.
    Source sequence(s)
    AB449914, AC025262, AC078815, BM678817, DC377016
    UniProtKB/Swiss-Prot
    Q9Y2I9
  2. NM_001330187.2NP_001317116.1  TBC1 domain family member 30 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AB449914, AC025262, AC078815, BM310544, BM678817, HY146277
    Consensus CDS
    CCDS81708.1
    UniProtKB/Swiss-Prot
    Q9Y2I9
    UniProtKB/TrEMBL
    F8VZ81
    Related
    ENSP00000501371.1, ENST00000674237.1
    Conserved Domains (2) summary
    pfam00566
    Location:19199
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:360488
    DUF4682; Domain of unknown function (DUF4682)
  3. NM_001330188.2NP_001317117.1  TBC1 domain family member 30 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AB449914, AC025262, AC078815, BM310544, BM678817
    Consensus CDS
    CCDS81708.1
    UniProtKB/Swiss-Prot
    Q9Y2I9
    UniProtKB/TrEMBL
    F8VZ81
    Conserved Domains (2) summary
    pfam00566
    Location:19199
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:360488
    DUF4682; Domain of unknown function (DUF4682)
  4. NM_001364838.2NP_001351767.1  TBC1 domain family member 30 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC025262, AC078815
    Conserved Domains (2) summary
    pfam00566
    Location:19199
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:360488
    DUF4682; Domain of unknown function (DUF4682)
  5. NM_015279.2NP_056094.1  TBC1 domain family member 30 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB449914, AC025262, AC078815, BM678817, DC377016
    Consensus CDS
    CCDS53813.1
    UniProtKB/Swiss-Prot
    Q9Y2I9
    Related
    ENSP00000440207.1, ENST00000539867.6
    Conserved Domains (2) summary
    pfam00566
    Location:133313
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:474603
    DUF4682; Domain of unknown function (DUF4682)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    64759484..64881033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448904.1XP_024304672.1  TBC1 domain family member 30 isoform X5

    Conserved Domains (2) summary
    pfam00566
    Location:19199
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:360508
    DUF4682; Domain of unknown function (DUF4682)
  2. XM_024448901.1XP_024304669.1  TBC1 domain family member 30 isoform X1

    Conserved Domains (2) summary
    pfam00566
    Location:296476
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:637785
    DUF4682; Domain of unknown function (DUF4682)
  3. XM_024448903.1XP_024304671.1  TBC1 domain family member 30 isoform X3

    Conserved Domains (2) summary
    pfam00566
    Location:296476
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:637741
    DUF4682; Domain of unknown function (DUF4682)
  4. XM_024448902.1XP_024304670.1  TBC1 domain family member 30 isoform X2

    Related
    ENSP00000440640.2, ENST00000542120.6
    Conserved Domains (2) summary
    pfam00566
    Location:296476
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:637765
    DUF4682; Domain of unknown function (DUF4682)
  5. XM_017019084.1XP_016874573.1  TBC1 domain family member 30 isoform X5

    Conserved Domains (2) summary
    pfam00566
    Location:19199
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:360508
    DUF4682; Domain of unknown function (DUF4682)
  6. XM_011538078.2XP_011536380.1  TBC1 domain family member 30 isoform X4

    Conserved Domains (2) summary
    pfam00566
    Location:133313
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:474623
    DUF4682; Domain of unknown function (DUF4682)
  7. XM_017019087.2XP_016874576.1  TBC1 domain family member 30 isoform X6

    UniProtKB/TrEMBL
    F8VZ81
    Conserved Domains (2) summary
    pfam00566
    Location:19199
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam15733
    Location:360488
    DUF4682; Domain of unknown function (DUF4682)
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