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

Gene ID: 161514, updated on 11-Apr-2024

Summary

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Official Symbol
TBC1D21provided by HGNC
Official Full Name
TBC1 domain family member 21provided by HGNC
Primary source
HGNC:HGNC:28536
See related
Ensembl:ENSG00000167139 MIM:620387; AllianceGenome:HGNC:28536
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
Summary
Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 8.2) See more
Orthologs
mouse all
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Genomic context

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Location:
15q24.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73873564..73910024)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71690893..71727352)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74165905..74181555)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74149333-74150025 Neighboring gene uncharacterized LOC102723657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74173695-74174256 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74179454-74179712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74194653-74195154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74214297-74215284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74215285-74216270 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74219309-74220142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74220143-74220976 Neighboring gene Sharpr-MPRA regulatory region 13651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74229856-74230455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74232882-74233777 Neighboring gene lysyl oxidase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74244872-74245555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74249081-74250280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74280304-74281503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6644 Neighboring gene stomatin like 1

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. RAB10 Interacts with the Male Germ Cell-Specific GTPase-Activating Protein during Mammalian Spermiogenesis. Lin YH, et al. Int J Mol Sci, 2017 Jan 5. PMID 28067790, Free PMC Article
  2. Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. Nakano M, et al. Sci Rep, 2014 Jun 18. PMID 24938310, Free PMC Article
  3. Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice. Wang YY, et al. PLoS Genet, 2020 Sep. PMID 32976492, Free PMC Article
  4. Identification and characterization of a novel Rab GTPase-activating protein in spermatids. Lin YH, et al. Int J Androl, 2011 Oct. PMID 21128978
  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 (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.
    Title: Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.
  2. Data indicate that single-nucleotide polymorphisms (SNPs) distributing in not only lysyl oxidase-like 1 gene (LOXL1) but also TBC1 domain family member 21 protein (TBC1D21) and promyelocytic leukemia protein (PML).
    Title: Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
  3. MgcRabGAP is involved in acrosome/acroplaxome formation and cytoskeletal reorganization via Rab activity during mammalian spermiogenesis
    Title: Identification and characterization of a novel Rab GTPase-activating protein in spermatids.
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
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC34741

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
NOT involved_in regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sperm mitochondrial sheath assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in sperm midpiece ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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

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_001286434.2 → NP_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/TrEMBL
    H3BTA9
    Related
    ENSP00000439325.2, ENST00000535547.6
    Conserved Domains (1) summary
    smart00164
    Location:26 → 251
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. NM_153356.3 → NP_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
    B9A6M2, Q8IYX1
    UniProtKB/TrEMBL
    H3BTA9
    Related
    ENSP00000300504.2, ENST00000300504.7
    Conserved Domains (1) summary
    smart00164
    Location:62 → 287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    73873564..73910024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521281.4 → XP_011519583.1  TBC1 domain family member 21 isoform X3

    UniProtKB/TrEMBL
    H3BTA9
    Conserved Domains (1) summary
    smart00164
    Location:62 → 287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. XM_047432198.1 → XP_047288154.1  TBC1 domain family member 21 isoform X6

  3. XM_011521283.3 → XP_011519585.1  TBC1 domain family member 21 isoform X5

    UniProtKB/TrEMBL
    H3BTA9
    Conserved Domains (1) summary
    smart00164
    Location:62 → 287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  4. XM_011521282.3 → XP_011519584.1  TBC1 domain family member 21 isoform X4

    UniProtKB/TrEMBL
    H3BTA9
    Conserved Domains (1) summary
    smart00164
    Location:62 → 287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  5. XM_006720410.5 → XP_006720473.1  TBC1 domain family member 21 isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:26 → 251
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  6. XM_006720409.5 → XP_006720472.1  TBC1 domain family member 21 isoform X1

    Conserved Domains (1) summary
    smart00164
    Location:62 → 287
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  7. XM_006720411.4 → XP_006720474.1  TBC1 domain family member 21 isoform X8

    Conserved Domains (1) summary
    smart00164
    Location:23 → 188
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  8. XM_011521284.4 → XP_011519586.1  TBC1 domain family member 21 isoform X7

    Conserved Domains (1) summary
    smart00164
    Location:34 → 199
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    71690893..71727352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377375.1 → XP_054233350.1  TBC1 domain family member 21 isoform X3

  2. XM_054377378.1 → XP_054233353.1  TBC1 domain family member 21 isoform X6

  3. XM_054377377.1 → XP_054233352.1  TBC1 domain family member 21 isoform X5

  4. XM_054377376.1 → XP_054233351.1  TBC1 domain family member 21 isoform X4

  5. XM_054377374.1 → XP_054233349.1  TBC1 domain family member 21 isoform X2

  6. XM_054377373.1 → XP_054233348.1  TBC1 domain family member 21 isoform X1

  7. XM_054377380.1 → XP_054233355.1  TBC1 domain family member 21 isoform X8

  8. XM_054377379.1 → XP_054233354.1  TBC1 domain family member 21 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYX1.1 GenPept UniProtKB/Swiss-Prot:Q8IYX1

Gene LinkOut

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