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Protein

TBC1 domain family member 9B

Gene

TBC1D9B

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).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei555Arginine fingerBy similarity1
Sitei594Glutamine fingerBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

BioCyciZFISH:G66-33716-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 9B
Gene namesi
Name:TBC1D9B
Synonyms:KIAA0676
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:29097. TBC1D9B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei668 – 688HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000197226.
PharmGKBiPA145148062.

Polymorphism and mutation databases

BioMutaiTBC1D9B.
DMDMi296452939.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002885011 – 1250TBC1 domain family member 9BAdd BLAST1250

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei397PhosphothreonineCombined sources1
Modified residuei411PhosphoserineCombined sources1
Modified residuei432PhosphoserineCombined sources1
Modified residuei435PhosphoserineCombined sources1
Modified residuei463PhosphoserineCombined sources1
Modified residuei1241PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ66K14.
MaxQBiQ66K14.
PaxDbiQ66K14.
PeptideAtlasiQ66K14.
PRIDEiQ66K14.

PTM databases

iPTMnetiQ66K14.
PhosphoSitePlusiQ66K14.

Expressioni

Gene expression databases

BgeeiENSG00000197226.
CleanExiHS_TBC1D9B.
ExpressionAtlasiQ66K14. baseline and differential.
GenevisibleiQ66K14. HS.

Organism-specific databases

HPAiHPA038350.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GABARAPL2P605203EBI-10217736,EBI-720116
L3MBTL2Q969R53EBI-10217736,EBI-739909

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116696. 27 interactors.
IntActiQ66K14. 9 interactors.
STRINGi9606.ENSP00000349291.

Structurei

3D structure databases

ProteinModelPortaliQ66K14.
SMRiQ66K14.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini142 – 209GRAM 1Add BLAST68
Domaini288 – 356GRAM 2Add BLAST69
Domaini508 – 695Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST188
Domaini879 – 914EF-handPROSITE-ProRule annotationAdd BLAST36

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 EF-hand domain.PROSITE-ProRule annotation
Contains 2 GRAM domains.Curated
Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4347. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOVERGENiHBG054142.
InParanoidiQ66K14.
KOiK19951.
OMAiEGEAMTI.
OrthoDBiEOG091G00RI.
PhylomeDBiQ66K14.
TreeFamiTF313145.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR004182. GRAM.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF02893. GRAM. 2 hits.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 2 hits.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF47923. SSF47923. 2 hits.
PROSITEiPS50222. EF_HAND_2. 1 hit.
PS50086. 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: Q66K14-1) [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
MWLSPEEVLV ANALWVTERA NPFFVLQRRR GHGRGGGLTG LLVGTLDVVL
60 70 80 90 100
DSSARVAPYR ILHQTQDSQV YWTVACGSSR KEITKHWEWL ENNLLQTLSI
110 120 130 140 150
FDSEEDITTF VKGKIHGIIA EENKNLQPQG DEDPGKFKEA ELKMRKQFGM
160 170 180 190 200
PEGEKLVNYY SCSYWKGRVP RQGWLYLTVN HLCFYSFLLG KEVSLVVQWV
210 220 230 240 250
DITRLEKNAT LLFPESIRVD TRDQELFFSM FLNIGETFKL MEQLANLAMR
260 270 280 290 300
QLLDSEGFLE DKALPRPIRP HRNISALKRD LDARAKNECY RATFRLPRDE
310 320 330 340 350
RLDGHTSCTL WTPFNKLHIP GQMFISNNYI CFASKEEDAC HLIIPLREVT
360 370 380 390 400
IVEKADSSSV LPSPLSISTK SKMTFLFANL KDRDFLVQRI SDFLQKTPSK
410 420 430 440 450
QPGSIGSRKA SVVDPSTESS PAPQEGSEQP ASPASPLSSR QSFCAQEAPT
460 470 480 490 500
ASQGLLKLFQ KNSPMEDLGA KGAKEKMKEE SWHIHFFEYG RGVCMYRTAK
510 520 530 540 550
TRALVLKGIP ESLRGELWLL FSGAWNEMVT HPGYYAELVE KSTGKYSLAT
560 570 580 590 600
EEIERDLHRS MPEHPAFQNE LGIAALRRVL TAYAFRNPTI GYCQAMNIVT
610 620 630 640 650
SVLLLYGSEE EAFWLLVALC ERMLPDYYNT RVVGALVDQG IFEELTRDFL
660 670 680 690 700
PQLSEKMQDL GVISSISLSW FLTLFLSVMP FESAVVIVDC FFYEGIKVIL
710 720 730 740 750
QVALAVLDAN MEQLLGCSDE GEAMTMLGRY LDNVVNKQSV SPPIPHLRAL
760 770 780 790 800
LSSSDDPPAE VDIFELLKVS YEKFSSLRAE DIEQMRFKQR LKVIQSLEDT
810 820 830 840 850
AKRSVVRAIP VDIGFSIEEL EDLYMVFKAK HLASQYWGCS RTMAGRRDPS
860 870 880 890 900
LPYLEQYRID ASQFRELFAS LTPWACGSHT PLLAGRMFRL LDENKDSLIN
910 920 930 940 950
FKEFVTGMSG MYHGDLTEKL KVLYKLHLPP ALSPEEAESA LEAAHYFTED
960 970 980 990 1000
SSSEASPLAS DLDLFLPWEA QEALPQEEQE GSGSEERGEE KGTSSPDYRH
1010 1020 1030 1040 1050
YLRMWAKEKE AQKETIKDLP KMNQEQFIEL CKTLYNMFSE DPMEQDLYHA
1060 1070 1080 1090 1100
IATVASLLLR IGEVGKKFSA RTGRKPRDCA TEEDEPPAPE LHQDAARELQ
1110 1120 1130 1140 1150
PPAAGDPQAK AGGDTHLGKA PQESQVVVEG GSGEGQGSPS QLLSDDETKD
1160 1170 1180 1190 1200
DMSMSSYSVV STGSLQCEDL ADDTVLVGGE ACSPTARIGG TVDTDWCISF
1210 1220 1230 1240 1250
EQILASILTE SVLVNFFEKR VDIGLKIKDQ KKVERQFSTA SDHEQPGVSG
Length:1,250
Mass (Da):140,525
Last modified:May 18, 2010 - v3
Checksum:i35D9E4914B1D8311
GO
Isoform 2 (identifier: Q66K14-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     955-971: Missing.

Show »
Length:1,233
Mass (Da):138,670
Checksum:i0CF4629B30598F6A
GO

Sequence cautioni

The sequence AAH08919 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti893E → G in BAD97229 (Ref. 5) Curated1
Sequence conflicti1231K → R in CAE46050 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032440240L → P.Corresponds to variant rs1057078dbSNPEnsembl.1
Natural variantiVAR_032441706V → I.Corresponds to variant rs10037618dbSNPEnsembl.1
Natural variantiVAR_0361961086P → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0324421119K → T.4 PublicationsCorresponds to variant rs30386dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_025699955 – 971Missing in isoform 2. 2 PublicationsAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014576 mRNA. Translation: BAA31651.1.
AC008393 Genomic DNA. No translation available.
AC010285 Genomic DNA. No translation available.
CH471165 Genomic DNA. Translation: EAW53780.1.
CH471165 Genomic DNA. Translation: EAW53782.1.
CH471165 Genomic DNA. Translation: EAW53777.1.
CH471165 Genomic DNA. Translation: EAW53779.1.
BC008919 mRNA. Translation: AAH08919.3. Different initiation.
BC080659 mRNA. Translation: AAH80659.1.
AK223509 mRNA. Translation: BAD97229.1.
BX641107 mRNA. Translation: CAE46050.1.
CCDSiCCDS43408.1. [Q66K14-1]
CCDS4450.1. [Q66K14-2]
RefSeqiNP_055858.2. NM_015043.3. [Q66K14-2]
NP_942568.2. NM_198868.2. [Q66K14-1]
UniGeneiHs.155829.

Genome annotation databases

EnsembliENST00000355235; ENSP00000347375; ENSG00000197226. [Q66K14-2]
ENST00000356834; ENSP00000349291; ENSG00000197226. [Q66K14-1]
GeneIDi23061.
KEGGihsa:23061.
UCSCiuc003mlh.4. human. [Q66K14-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014576 mRNA. Translation: BAA31651.1.
AC008393 Genomic DNA. No translation available.
AC010285 Genomic DNA. No translation available.
CH471165 Genomic DNA. Translation: EAW53780.1.
CH471165 Genomic DNA. Translation: EAW53782.1.
CH471165 Genomic DNA. Translation: EAW53777.1.
CH471165 Genomic DNA. Translation: EAW53779.1.
BC008919 mRNA. Translation: AAH08919.3. Different initiation.
BC080659 mRNA. Translation: AAH80659.1.
AK223509 mRNA. Translation: BAD97229.1.
BX641107 mRNA. Translation: CAE46050.1.
CCDSiCCDS43408.1. [Q66K14-1]
CCDS4450.1. [Q66K14-2]
RefSeqiNP_055858.2. NM_015043.3. [Q66K14-2]
NP_942568.2. NM_198868.2. [Q66K14-1]
UniGeneiHs.155829.

3D structure databases

ProteinModelPortaliQ66K14.
SMRiQ66K14.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116696. 27 interactors.
IntActiQ66K14. 9 interactors.
STRINGi9606.ENSP00000349291.

PTM databases

iPTMnetiQ66K14.
PhosphoSitePlusiQ66K14.

Polymorphism and mutation databases

BioMutaiTBC1D9B.
DMDMi296452939.

Proteomic databases

EPDiQ66K14.
MaxQBiQ66K14.
PaxDbiQ66K14.
PeptideAtlasiQ66K14.
PRIDEiQ66K14.

Protocols and materials databases

DNASUi23061.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355235; ENSP00000347375; ENSG00000197226. [Q66K14-2]
ENST00000356834; ENSP00000349291; ENSG00000197226. [Q66K14-1]
GeneIDi23061.
KEGGihsa:23061.
UCSCiuc003mlh.4. human. [Q66K14-1]

Organism-specific databases

CTDi23061.
GeneCardsiTBC1D9B.
HGNCiHGNC:29097. TBC1D9B.
HPAiHPA038350.
neXtProtiNX_Q66K14.
OpenTargetsiENSG00000197226.
PharmGKBiPA145148062.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4347. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOVERGENiHBG054142.
InParanoidiQ66K14.
KOiK19951.
OMAiEGEAMTI.
OrthoDBiEOG091G00RI.
PhylomeDBiQ66K14.
TreeFamiTF313145.

Enzyme and pathway databases

BioCyciZFISH:G66-33716-MONOMER.

Miscellaneous databases

ChiTaRSiTBC1D9B. human.
GenomeRNAii23061.
PROiQ66K14.

Gene expression databases

BgeeiENSG00000197226.
CleanExiHS_TBC1D9B.
ExpressionAtlasiQ66K14. baseline and differential.
GenevisibleiQ66K14. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR004182. GRAM.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF02893. GRAM. 2 hits.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 2 hits.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF47923. SSF47923. 2 hits.
PROSITEiPS50222. EF_HAND_2. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBC9B_HUMAN
AccessioniPrimary (citable) accession number: Q66K14
Secondary accession number(s): D3DWQ5
, D3DWQ6, O75163, Q53EY0, Q6MZI2, Q96H49
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 110 of the entry and version 3 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 5
    Human chromosome 5: 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.