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Protein

TBC1 domain family member 22A

Gene

TBC1D22A

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

Functioni

May act as a GTPase-activating protein for Rab family protein(s).By similarity

GO - Molecular functioni

  • 14-3-3 protein binding Source: UniProtKB
  • GTPase activator activity Source: GO_Central
  • protein homodimerization activity Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000054611-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 22A
Gene namesi
Name:TBC1D22A
Synonyms:C22orf4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:1309. TBC1D22A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi90 – 92NSE → AAA: No effect on ACBD3-binding. 1 Publication3
Mutagenesisi92 – 93EV → AA: No effect on interaction with ACBD3, nor with 14-3-3 proteins. 1 Publication2
Mutagenesisi93 – 96VVME → AAAA: Decreased ACBD3-binding. 1 Publication4
Mutagenesisi96 – 97ET → AA: No effect on ACBD3-binding. 1 Publication2
Mutagenesisi99 – 100NR → AA: No effect on ACBD3-binding. 1 Publication2
Mutagenesisi101 – 102VL → AA: Drastically decreased ACBD3-binding. No effect on binding to 14-3-3 protein. 1 Publication2
Mutagenesisi103 – 105RNH → AAA: No effect on ACBD3-binding. 1 Publication3
Mutagenesisi132S → A: No effect on 14-3-3 protein-binding. 1 Publication1
Mutagenesisi149 – 150TS → EE: Decreased 14-3-3 protein-binding. 1 Publication2
Mutagenesisi165 – 167SQS → AQA: Complete loss of 14-3-3 protein-binding. 1 Publication3
Mutagenesisi165 – 167SQS → EQE: Complete loss of 14-3-3 protein-binding. 1 Publication3
Mutagenesisi165S → A: No effect on interaction with ACBD3. Decreased 14-3-3 protein-binding. 1 Publication1
Mutagenesisi165S → E: Complete loss of 14-3-3 protein-binding. 1 Publication1
Mutagenesisi167S → E: Complete loss of 14-3-3 protein-binding. 1 Publication1
Mutagenesisi320Q → A: Decreased 14-3-3 protein-binding. 1 Publication1

Organism-specific databases

DisGeNETi25771.
OpenTargetsiENSG00000054611.
PharmGKBiPA25888.

Polymorphism and mutation databases

BioMutaiTBC1D22A.
DMDMi25008319.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002080512 – 517TBC1 domain family member 22AAdd BLAST516

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei132PhosphoserineCombined sources1
Modified residuei145PhosphoserineBy similarity1
Modified residuei167PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WUA7.
MaxQBiQ8WUA7.
PaxDbiQ8WUA7.
PeptideAtlasiQ8WUA7.
PRIDEiQ8WUA7.

PTM databases

iPTMnetiQ8WUA7.
PhosphoSitePlusiQ8WUA7.

Expressioni

Gene expression databases

BgeeiENSG00000054611.
CleanExiHS_TBC1D22A.
ExpressionAtlasiQ8WUA7. baseline and differential.
GenevisibleiQ8WUA7. HS.

Organism-specific databases

HPAiHPA001173.

Interactioni

Subunit structurei

Homodimer (PubMed:18186464). Interacts with ACBD3 and ARFGEF1. Interacts with YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ (PubMed:23572552).2 Publications

GO - Molecular functioni

  • 14-3-3 protein binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

Protein-protein interaction databases

BioGridi117308. 23 interactors.
IntActiQ8WUA7. 3 interactors.
STRINGi9606.ENSP00000336724.

Structurei

Secondary structure

1517
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi197 – 206Combined sources10
Helixi212 – 219Combined sources8
Helixi225 – 227Combined sources3
Helixi228 – 235Combined sources8
Helixi243 – 245Combined sources3
Helixi246 – 263Combined sources18
Helixi274 – 283Combined sources10
Helixi284 – 286Combined sources3
Helixi290 – 293Combined sources4
Helixi296 – 312Combined sources17
Turni314 – 316Combined sources3
Helixi322 – 334Combined sources13
Helixi335 – 337Combined sources3
Helixi353 – 372Combined sources20
Helixi375 – 377Combined sources3
Helixi383 – 399Combined sources17
Helixi401 – 409Combined sources9
Helixi414 – 423Combined sources10
Turni424 – 429Combined sources6
Helixi432 – 442Combined sources11
Turni446 – 451Combined sources6
Helixi452 – 463Combined sources12
Helixi465 – 470Combined sources6
Helixi474 – 481Combined sources8
Helixi491 – 507Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2QFZX-ray2.10A/B191-517[»]
ProteinModelPortaliQ8WUA7.
SMRiQ8WUA7.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WUA7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini222 – 446Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST225

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1092. Eukaryota.
ENOG410XQ68. LUCA.
GeneTreeiENSGT00860000133753.
HOGENOMiHOG000162526.
HOVERGENiHBG057030.
InParanoidiQ8WUA7.
KOiK20360.
OMAiFICEYIE.
OrthoDBiEOG091G055X.
PhylomeDBiQ8WUA7.
TreeFamiTF314211.

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 (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WUA7-1) [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
MASDGARKQF WKRSNSKLPG SIQHVYGAQH PPFDPLLHGT LLRSTAKMPT
60 70 80 90 100
TPVKAKRVST FQEFESNTSD AWDAGEDDDE LLAMAAESLN SEVVMETANR
110 120 130 140 150
VLRNHSQRQG RPTLQEGPGL QQKPRPEAEP PSPPSGDLRL VKSVSESHTS
160 170 180 190 200
CPAESASDAA PLQRSQSLPH SATVTLGGTS DPSTLSSSAL SEREASRLDK
210 220 230 240 250
FKQLLAGPNT DLEELRRLSW SGIPKPVRPM TWKLLSGYLP ANVDRRPATL
260 270 280 290 300
QRKQKEYFAF IEHYYDSRND EVHQDTYRQI HIDIPRMSPE ALILQPKVTE
310 320 330 340 350
IFERILFIWA IRHPASGYVQ GINDLVTPFF VVFICEYIEA EEVDTVDVSG
360 370 380 390 400
VPAEVLCNIE ADTYWCMSKL LDGIQDNYTF AQPGIQMKVK MLEELVSRID
410 420 430 440 450
EQVHRHLDQH EVRYLQFAFR WMNNLLMREV PLRCTIRLWD TYQSEPDGFS
460 470 480 490 500
HFHLYVCAAF LVRWRKEILE EKDFQELLLF LQNLPTAHWD DEDISLLLAE
510
AYRLKFAFAD APNHYKK
Length:517
Mass (Da):59,121
Last modified:November 8, 2002 - v2
Checksum:i865A3CDCDA0C5543
GO
Isoform 2 (identifier: Q8WUA7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     22-40: Missing.
     154-212: Missing.

Note: No experimental confirmation available.
Show »
Length:439
Mass (Da):50,931
Checksum:i6B0974FFA893D264
GO
Isoform 3 (identifier: Q8WUA7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: Missing.
     339-371: EAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLL → AFPGCGRPQIPILAVIWRDEPYPRTDEQIILRR
     372-517: Missing.

Note: No experimental confirmation available.
Show »
Length:324
Mass (Da):36,514
Checksum:i3FB78F85F1CDEDF3
GO
Isoform 4 (identifier: Q8WUA7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: Missing.

Note: No experimental confirmation available.
Show »
Length:470
Mass (Da):53,908
Checksum:iE6E52DB6BB248975
GO

Sequence cautioni

The sequence CAB46628 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti92E → K in AAH01292 (PubMed:15489334).Curated1
Sequence conflicti339 – 345EAEEVDT → GKISCKH in AAD12228 (PubMed:10591208).Curated7
Sequence conflicti350G → C in AAH01292 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0151421 – 47Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_01038222 – 40Missing in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_010383154 – 212Missing in isoform 2. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_015143339 – 371EAEEV…MSKLL → AFPGCGRPQIPILAVIWRDE PYPRTDEQIILRR in isoform 3. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_015144372 – 517Missing in isoform 3. 1 PublicationAdd BLAST146

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449908 mRNA. Translation: BAH16651.1.
CR456412 mRNA. Translation: CAG30298.1.
AK125705 mRNA. Translation: BAC86253.1.
AK127653 mRNA. Translation: BAG54543.1.
U51561 Genomic DNA. Translation: AAD12228.1.
AL118516
, AL023733, FP325331, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAI17954.1.
AL023733
, FP325331, AL118516, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAI18761.1.
Z80896
, AL023733, FP325331, AL118516, U51561, Z79999, Z82187 Genomic DNA. Translation: CAI22357.1.
Z79999
, AL023733, FP325331, AL118516, U51561, Z80896, Z82187 Genomic DNA. Translation: CAI23583.1.
Z82187
, AL023733, FP325331, AL118516, U51561, Z80896, Z79999 Genomic DNA. Translation: CAI23588.1.
Z79999
, AL023733, FP325331, AL118516, U51561, Z80896, Z82187 Genomic DNA. Translation: CAQ07922.1.
Z80896
, AL023733, FP325331, AL118516, U51561, Z79999, Z82187 Genomic DNA. Translation: CAQ09326.1.
Z82187
, AL023733, FP325331, AL118516, U51561, Z79999, Z80896 Genomic DNA. Translation: CAQ09531.1.
AL118516
, AL023733, FP325331, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAQ10969.1.
AL023733
, FP325331, AL118516, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAQ11024.1.
CH471138 Genomic DNA. Translation: EAW73443.1.
CH471138 Genomic DNA. Translation: EAW73445.1.
BC001292 mRNA. Translation: AAH01292.2.
BC002743 mRNA. Translation: AAH02743.2.
BC020976 mRNA. Translation: AAH20976.2.
BC029897 mRNA. Translation: AAH29897.1.
AL096779 mRNA. Translation: CAB46628.1. Different initiation.
CCDSiCCDS14078.1. [Q8WUA7-1]
CCDS63511.1. [Q8WUA7-2]
CCDS63512.1. [Q8WUA7-4]
RefSeqiNP_001271232.1. NM_001284303.1. [Q8WUA7-2]
NP_001271234.1. NM_001284305.1. [Q8WUA7-4]
NP_055161.1. NM_014346.3. [Q8WUA7-1]
XP_016884233.1. XM_017028744.1. [Q8WUA7-4]
UniGeneiHs.435044.

Genome annotation databases

EnsembliENST00000337137; ENSP00000336724; ENSG00000054611. [Q8WUA7-1]
ENST00000355704; ENSP00000347932; ENSG00000054611. [Q8WUA7-2]
ENST00000406733; ENSP00000385634; ENSG00000054611. [Q8WUA7-4]
ENST00000441162; ENSP00000406214; ENSG00000054611. [Q8WUA7-3]
GeneIDi25771.
KEGGihsa:25771.
UCSCiuc003bib.5. human. [Q8WUA7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449908 mRNA. Translation: BAH16651.1.
CR456412 mRNA. Translation: CAG30298.1.
AK125705 mRNA. Translation: BAC86253.1.
AK127653 mRNA. Translation: BAG54543.1.
U51561 Genomic DNA. Translation: AAD12228.1.
AL118516
, AL023733, FP325331, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAI17954.1.
AL023733
, FP325331, AL118516, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAI18761.1.
Z80896
, AL023733, FP325331, AL118516, U51561, Z79999, Z82187 Genomic DNA. Translation: CAI22357.1.
Z79999
, AL023733, FP325331, AL118516, U51561, Z80896, Z82187 Genomic DNA. Translation: CAI23583.1.
Z82187
, AL023733, FP325331, AL118516, U51561, Z80896, Z79999 Genomic DNA. Translation: CAI23588.1.
Z79999
, AL023733, FP325331, AL118516, U51561, Z80896, Z82187 Genomic DNA. Translation: CAQ07922.1.
Z80896
, AL023733, FP325331, AL118516, U51561, Z79999, Z82187 Genomic DNA. Translation: CAQ09326.1.
Z82187
, AL023733, FP325331, AL118516, U51561, Z79999, Z80896 Genomic DNA. Translation: CAQ09531.1.
AL118516
, AL023733, FP325331, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAQ10969.1.
AL023733
, FP325331, AL118516, U51561, Z79999, Z80896, Z82187 Genomic DNA. Translation: CAQ11024.1.
CH471138 Genomic DNA. Translation: EAW73443.1.
CH471138 Genomic DNA. Translation: EAW73445.1.
BC001292 mRNA. Translation: AAH01292.2.
BC002743 mRNA. Translation: AAH02743.2.
BC020976 mRNA. Translation: AAH20976.2.
BC029897 mRNA. Translation: AAH29897.1.
AL096779 mRNA. Translation: CAB46628.1. Different initiation.
CCDSiCCDS14078.1. [Q8WUA7-1]
CCDS63511.1. [Q8WUA7-2]
CCDS63512.1. [Q8WUA7-4]
RefSeqiNP_001271232.1. NM_001284303.1. [Q8WUA7-2]
NP_001271234.1. NM_001284305.1. [Q8WUA7-4]
NP_055161.1. NM_014346.3. [Q8WUA7-1]
XP_016884233.1. XM_017028744.1. [Q8WUA7-4]
UniGeneiHs.435044.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2QFZX-ray2.10A/B191-517[»]
ProteinModelPortaliQ8WUA7.
SMRiQ8WUA7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117308. 23 interactors.
IntActiQ8WUA7. 3 interactors.
STRINGi9606.ENSP00000336724.

PTM databases

iPTMnetiQ8WUA7.
PhosphoSitePlusiQ8WUA7.

Polymorphism and mutation databases

BioMutaiTBC1D22A.
DMDMi25008319.

Proteomic databases

EPDiQ8WUA7.
MaxQBiQ8WUA7.
PaxDbiQ8WUA7.
PeptideAtlasiQ8WUA7.
PRIDEiQ8WUA7.

Protocols and materials databases

DNASUi25771.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337137; ENSP00000336724; ENSG00000054611. [Q8WUA7-1]
ENST00000355704; ENSP00000347932; ENSG00000054611. [Q8WUA7-2]
ENST00000406733; ENSP00000385634; ENSG00000054611. [Q8WUA7-4]
ENST00000441162; ENSP00000406214; ENSG00000054611. [Q8WUA7-3]
GeneIDi25771.
KEGGihsa:25771.
UCSCiuc003bib.5. human. [Q8WUA7-1]

Organism-specific databases

CTDi25771.
DisGeNETi25771.
GeneCardsiTBC1D22A.
H-InvDBHIX0022662.
HGNCiHGNC:1309. TBC1D22A.
HPAiHPA001173.
MIMi616879. gene.
neXtProtiNX_Q8WUA7.
OpenTargetsiENSG00000054611.
PharmGKBiPA25888.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1092. Eukaryota.
ENOG410XQ68. LUCA.
GeneTreeiENSGT00860000133753.
HOGENOMiHOG000162526.
HOVERGENiHBG057030.
InParanoidiQ8WUA7.
KOiK20360.
OMAiFICEYIE.
OrthoDBiEOG091G055X.
PhylomeDBiQ8WUA7.
TreeFamiTF314211.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000054611-MONOMER.

Miscellaneous databases

ChiTaRSiTBC1D22A. human.
EvolutionaryTraceiQ8WUA7.
GenomeRNAii25771.
PROiQ8WUA7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000054611.
CleanExiHS_TBC1D22A.
ExpressionAtlasiQ8WUA7. baseline and differential.
GenevisibleiQ8WUA7. 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 nameiTB22A_HUMAN
AccessioniPrimary (citable) accession number: Q8WUA7
Secondary accession number(s): B0QYI2
, B0QYI3, B9A6M3, Q5TE47, Q6ZUH2, Q92680, Q9BVD6, Q9UGG0, Q9UGT2, Q9UGU6, Q9UH25, Q9Y4W5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: November 8, 2002
Last modified: November 30, 2016
This is version 131 of the entry and version 2 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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.