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Protein

TBC1 domain family member 21

Gene

TBC1D21

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (PubMed:21128978).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei124Arginine fingerBy similarity1
Sitei163Glutamine fingerBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Keywords - Biological processi

Differentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 21
Gene namesi
Name:TBC1D21
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:28536. TBC1D21.

Subcellular locationi

  • Cytoplasmic vesiclesecretory vesicleacrosome By similarity
  • Cytoplasmcytoskeleton By similarity

  • Note: Located at the edge of the acrosomal region, neck and annulus during spermiogenesis. Colocalizes with RAB3A at the acrosome-acroplaxome and neck regions of spermatids. Colocalizes with ACTB at the neck region in elongated spermatids.By similarity

GO - Cellular componenti

  • acrosomal vesicle Source: UniProtKB-SubCell
  • cytoskeleton Source: UniProtKB-SubCell
  • endomembrane system Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • intracellular Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi161514.
OpenTargetsiENSG00000167139.
PharmGKBiPA134890585.

Polymorphism and mutation databases

BioMutaiTBC1D21.
DMDMi59798963.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080501 – 336TBC1 domain family member 21Add BLAST336

Proteomic databases

PaxDbiQ8IYX1.
PeptideAtlasiQ8IYX1.
PRIDEiQ8IYX1.

PTM databases

PhosphoSitePlusiQ8IYX1.

Expressioni

Tissue specificityi

Expressed in round and elongated spermatids (at protein level). Expressed specifically in adult testis and very weakly in fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000167139.
CleanExiHS_TBC1D21.
ExpressionAtlasiQ8IYX1. baseline and differential.
GenevisibleiQ8IYX1. HS.

Organism-specific databases

HPAiHPA043319.

Interactioni

Subunit structurei

Interacts with ACTB.By similarity

Protein-protein interaction databases

BioGridi127795. 1 interactor.
IntActiQ8IYX1. 15 interactors.
STRINGi9606.ENSP00000300504.

Structurei

3D structure databases

ProteinModelPortaliQ8IYX1.
SMRiQ8IYX1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 265Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST209

Domaini

The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.By similarity

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2197. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00730000111374.
HOGENOMiHOG000152372.
HOVERGENiHBG061086.
InParanoidiQ8IYX1.
OMAiWSASFIL.
OrthoDBiEOG091G0AHX.
PhylomeDBiQ8IYX1.
TreeFamiTF352573.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IYX1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTTLSPENSL SARQSASFIL VKRKPPIDKT EWDSFFDESG HLAKSRDFIC
60 70 80 90 100
VNILERGLHP FVRTEAWKFL TGYFSWQSSQ DERLTVDSMR RKNYKALCQM
110 120 130 140 150
YEKIQPLLEN LHRNFTETRN NIARDIQKIY DKDPLGNVLI DKKRLEKILL
160 170 180 190 200
LSYVCNTQAE YQQGFHEMMM LFQLMVEHDH ETFWLFQFFL QKTEHSCVIN
210 220 230 240 250
IGVAKNLDML STLITFLDPV FAEHLKGKGA GAVQSLFPWF CFCFQRAFKS
260 270 280 290 300
FDDVWRLWEV LLTGKPCRNF QVLVAYSMLQ MVREQVLQES MGGDDILLAC
310 320 330
NNLIDLDADE LISAACVVYA ELIQKDVPQT LKDFFL
Length:336
Mass (Da):39,221
Last modified:March 1, 2003 - v1
Checksum:i2B459D2FDE843E20
GO
Isoform 2 (identifier: Q8IYX1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-56: Missing.

Show »
Length:300
Mass (Da):34,961
Checksum:iA77DC4FEB12A61D5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034544113R → Q.Corresponds to variant rs16958445dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05399921 – 56Missing in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449907 mRNA. Translation: BAH16650.1.
AC018943 Genomic DNA. No translation available.
AC108137 Genomic DNA. No translation available.
BC033516 mRNA. Translation: AAH33516.1.
CCDSiCCDS10252.1. [Q8IYX1-1]
CCDS66822.1. [Q8IYX1-2]
RefSeqiNP_001273363.1. NM_001286434.1. [Q8IYX1-2]
NP_699187.1. NM_153356.2. [Q8IYX1-1]
UniGeneiHs.124512.

Genome annotation databases

EnsembliENST00000300504; ENSP00000300504; ENSG00000167139. [Q8IYX1-1]
ENST00000535547; ENSP00000439325; ENSG00000167139. [Q8IYX1-2]
GeneIDi161514.
KEGGihsa:161514.
UCSCiuc002avz.5. human. [Q8IYX1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449907 mRNA. Translation: BAH16650.1.
AC018943 Genomic DNA. No translation available.
AC108137 Genomic DNA. No translation available.
BC033516 mRNA. Translation: AAH33516.1.
CCDSiCCDS10252.1. [Q8IYX1-1]
CCDS66822.1. [Q8IYX1-2]
RefSeqiNP_001273363.1. NM_001286434.1. [Q8IYX1-2]
NP_699187.1. NM_153356.2. [Q8IYX1-1]
UniGeneiHs.124512.

3D structure databases

ProteinModelPortaliQ8IYX1.
SMRiQ8IYX1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127795. 1 interactor.
IntActiQ8IYX1. 15 interactors.
STRINGi9606.ENSP00000300504.

PTM databases

PhosphoSitePlusiQ8IYX1.

Polymorphism and mutation databases

BioMutaiTBC1D21.
DMDMi59798963.

Proteomic databases

PaxDbiQ8IYX1.
PeptideAtlasiQ8IYX1.
PRIDEiQ8IYX1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300504; ENSP00000300504; ENSG00000167139. [Q8IYX1-1]
ENST00000535547; ENSP00000439325; ENSG00000167139. [Q8IYX1-2]
GeneIDi161514.
KEGGihsa:161514.
UCSCiuc002avz.5. human. [Q8IYX1-1]

Organism-specific databases

CTDi161514.
DisGeNETi161514.
GeneCardsiTBC1D21.
HGNCiHGNC:28536. TBC1D21.
HPAiHPA043319.
neXtProtiNX_Q8IYX1.
OpenTargetsiENSG00000167139.
PharmGKBiPA134890585.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2197. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00730000111374.
HOGENOMiHOG000152372.
HOVERGENiHBG061086.
InParanoidiQ8IYX1.
OMAiWSASFIL.
OrthoDBiEOG091G0AHX.
PhylomeDBiQ8IYX1.
TreeFamiTF352573.

Miscellaneous databases

GenomeRNAii161514.
PROiQ8IYX1.

Gene expression databases

BgeeiENSG00000167139.
CleanExiHS_TBC1D21.
ExpressionAtlasiQ8IYX1. baseline and differential.
GenevisibleiQ8IYX1. HS.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBC21_HUMAN
AccessioniPrimary (citable) accession number: Q8IYX1
Secondary accession number(s): B9A6M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: March 1, 2003
Last modified: November 30, 2016
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.