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TBC1D25 TBC1 domain family member 25 [ Homo sapiens (human) ]

Gene ID: 4943, updated on 24-Nov-2020

Summary

Official Symbol
TBC1D25provided by HGNC
Official Full Name
TBC1 domain family member 25provided by HGNC
Primary source
HGNC:HGNC:8092
See related
Ensembl:ENSG00000068354 MIM:311240
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MG81; OATL1
Summary
This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in testis (RPKM 5.6), brain (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D25 in Genome Data Viewer
Location:
Xp11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48539714..48562609)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48398075..48420997)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene EBP cholestenol delta-isomerase Neighboring gene CRISPRi-validated cis-regulatory element chrX.929 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element Neighboring gene RNA binding motif protein 3 Neighboring gene MRPL32 pseudogene 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126866, MGC126868, MGC149731, MGC149732

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
autophagosome TAS
Traceable Author Statement
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
TBC1 domain family member 25
Names
5SN3 snoRNA
ornithine aminotransferase-like 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_052856.1 RefSeqGene

    Range
    5028..27923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348262.2NP_001335191.1  TBC1 domain family member 25 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC115618, AF196969, BC101817, BE279778, BU630180, HY154299
    UniProtKB/Swiss-Prot
    Q3MII6
    Conserved Domains (1) summary
    smart00164
    Location:241470
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_001348263.2NP_001335192.1  TBC1 domain family member 25 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC115618, AF196969
    UniProtKB/TrEMBL
    B4DF03
    Conserved Domains (1) summary
    smart00164
    Location:229458
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_001348264.2NP_001335193.1  TBC1 domain family member 25 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
    Source sequence(s)
    AC115618, AF196969
    Conserved Domains (1) summary
    smart00164
    Location:167396
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. NM_001348265.2NP_001335194.1  TBC1 domain family member 25 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate splice junctions compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
    Source sequence(s)
    AC115618, AF196969
    Conserved Domains (1) summary
    smart00164
    Location:167396
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. NM_002536.4NP_002527.1  TBC1 domain family member 25 isoform c

    See identical proteins and their annotated locations for NP_002527.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC115618, AF196969, BC101817, BU630180, HY154299
    Consensus CDS
    CCDS35242.1
    UniProtKB/Swiss-Prot
    Q3MII6
    Related
    ENSP00000365962.4, ENST00000376771.9
    Conserved Domains (1) summary
    smart00164
    Location:225454
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_145494.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969, AK298884, BU630180
  2. NR_145495.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969
  3. NR_145496.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969, BU630180, DA031057
  4. NR_145497.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969, BU630180, DC309515, HY154299
  5. NR_145498.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969
  6. NR_145499.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969
  7. NR_145500.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969
  8. NR_145501.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969, BU630180, DA688823, HY154299
  9. NR_145502.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC115618, AF196969, BC143395, BU630180, HY154299

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48539714..48562609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001006113.1: Suppressed sequence

    Description
    NM_001006113.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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