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Protein

TBC1 domain family member 21

Gene

TBC1D21

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionGTPase activation
Biological processDifferentiation, 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

EuPathDBiHostDB:ENSG00000167139.8
HGNCiHGNC:28536 TBC1D21
neXtProtiNX_Q8IYX1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1277952 interactors.
IntActiQ8IYX1 21 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

Phylogenomic databases

eggNOGiKOG2197 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00730000111374
HOGENOMiHOG000152372
HOVERGENiHBG061086
InParanoidiQ8IYX1
OMAiMMLFQLM
OrthoDBiEOG091G0AHX
PhylomeDBiQ8IYX1
TreeFamiTF352573

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

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 dbSNP:rs16958445Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiTBC21_HUMAN
AccessioniPrimary (citable) accession number: Q8IYX1
Secondary accession number(s): B9A6M2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: March 1, 2003
Last modified: March 28, 2018
This is version 106 of the entry and version 1 of the sequence. See 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