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TBC1D21 TBC1 domain family member 21 [ Homo sapiens (human) ]

Gene ID: 161514, updated on 24-Nov-2020

Summary

Official Symbol
TBC1D21provided by HGNC
Official Full Name
TBC1 domain family member 21provided by HGNC
Primary source
HGNC:HGNC:28536
See related
Ensembl:ENSG00000167139
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
Also known as
MgcRabGAP
Expression
Restricted expression toward testis (RPKM 8.2) See more
Orthologs

Genomic context

See TBC1D21 in Genome Data Viewer
Location:
15q24.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (73873556..73912166)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74165922..74181555)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370892 Neighboring gene uncharacterized LOC102723657 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene lysyl oxidase like 1 Neighboring gene stomatin like 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

Phenotypes

Associated conditions

Description Tests
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34741

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT small GTPase binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
TBC1 domain family member 21
Names
male germ cell-specific expressed, containing a RabGAP domain

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.

mRNA and Protein(s)

  1. NM_001286434.2NP_001273363.1  TBC1 domain family member 21 isoform 2

    See identical proteins and their annotated locations for NP_001273363.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB449907, AC018943, BC033516, HY018107
    Consensus CDS
    CCDS66822.1
    UniProtKB/Swiss-Prot
    Q8IYX1
    Related
    ENSP00000439325.2, ENST00000535547.6
    Conserved Domains (1) summary
    smart00164
    Location:26251
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_153356.3NP_699187.1  TBC1 domain family member 21 isoform 1

    See identical proteins and their annotated locations for NP_699187.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB449907, AC018943, BC033516, HY018107
    Consensus CDS
    CCDS10252.1
    UniProtKB/Swiss-Prot
    Q8IYX1
    Related
    ENSP00000300504.2, ENST00000300504.7
    Conserved Domains (1) summary
    smart00164
    Location:62287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

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_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    73873556..73912166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720409.4XP_006720472.1  TBC1 domain family member 21 isoform X1

    Conserved Domains (1) summary
    smart00164
    Location:62287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_006720410.4XP_006720473.1  TBC1 domain family member 21 isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:26251
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_006720411.3XP_006720474.1  TBC1 domain family member 21 isoform X7

    Conserved Domains (1) summary
    smart00164
    Location:23188
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_024449856.1XP_024305624.1  TBC1 domain family member 21 isoform X8

    Conserved Domains (1) summary
    smart00164
    Location:23188
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. XM_011521281.3XP_011519583.1  TBC1 domain family member 21 isoform X3

    Conserved Domains (1) summary
    smart00164
    Location:62287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_011521283.2XP_011519585.1  TBC1 domain family member 21 isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:62287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  7. XM_011521282.2XP_011519584.1  TBC1 domain family member 21 isoform X4

    Conserved Domains (1) summary
    smart00164
    Location:62287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. XM_024449857.1XP_024305625.1  TBC1 domain family member 21 isoform X9

    Conserved Domains (1) summary
    cl02495
    Location:23188
    RabGAP-TBC; Rab-GTPase-TBC domain
  9. XM_011521284.3XP_011519586.1  TBC1 domain family member 21 isoform X6

    Conserved Domains (1) summary
    smart00164
    Location:34199
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
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