U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 161514, updated on 5-Aug-2022

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 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TBC1D21 in Genome Data Viewer
Location:
15q24.1
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73873564..73910024)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71690893..71706534)
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 uncharacterized LOC102723657 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13651 Neighboring gene lysyl oxidase 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

EBI GWAS Catalog

Description
Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.
EBI GWAS Catalog

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
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
NOT 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
PubMed 
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

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)

NEW Try the new Transcript table

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
    B9A6M2, 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 Annotation Release 110 details...Open this link in a new tab

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_011521281.4XP_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
  2. XM_047432198.1XP_047288154.1  TBC1 domain family member 21 isoform X6

  3. XM_011521283.3XP_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
  4. XM_011521282.3XP_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
  5. XM_006720410.5XP_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
  6. XM_006720409.5XP_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
  7. XM_006720411.4XP_006720474.1  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
  8. XM_011521284.4XP_011519586.1  TBC1 domain family member 21 isoform X7

    Conserved Domains (1) summary
    smart00164
    Location:34199
    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..71706534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)