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Protein

TBC1 domain family member 9B

Gene

TBC1D9B

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).

Sites

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

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

EuPathDBiHostDB:ENSG00000197226.12
HGNCiHGNC:29097 TBC1D9B
MIMi618039 gene
neXtProtiNX_Q66K14

Subcellular locationi

Topology

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

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
ProteomicsDBi65950
65951 [Q66K14-2]

PTM databases

iPTMnetiQ66K14
PhosphoSitePlusiQ66K14

Expressioni

Gene expression databases

BgeeiENSG00000197226 Expressed in 229 organ(s), highest expression level in cerebellum
CleanExiHS_TBC1D9B
ExpressionAtlasiQ66K14 baseline and differential
GenevisibleiQ66K14 HS

Organism-specific databases

HPAiHPA038350

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116696, 34 interactors
IntActiQ66K14, 10 interactors
STRINGi9606.ENSP00000349291

Structurei

3D structure databases

ProteinModelPortaliQ66K14
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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4347 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOVERGENiHBG054142
InParanoidiQ66K14
KOiK19951
OMAiPIPHLHA
OrthoDBiEOG091G00RI
PhylomeDBiQ66K14
TreeFamiTF313145

Family and domain databases

CDDicd13351 PH-GRAM1_TCB1D9_TCB1D9B, 1 hit
cd13354 PH-GRAM2_TCB1D9_TCB1D9B, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR004182 GRAM
IPR011993 PH-like_dom_sf
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR036014 TCB1D9/TCB1D9B_PH-GRAM1
IPR036017 TCB1D9/TCB1D9B_PH-GRAM2
PfamiView protein in Pfam
PF02893 GRAM, 2 hits
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00568 GRAM, 2 hits
SM00164 TBC, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 1 hit
PS50086 TBC_RABGAP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V133G3V133_HUMAN
KIAA0676 protein, isoform CRA_d
TBC1D9B KIAA0676, hCG_15288
409Annotation score:
H0YB08H0YB08_HUMAN
TBC1 domain family member 9B
TBC1D9B
166Annotation score:
H0YB58H0YB58_HUMAN
TBC1 domain family member 9B
TBC1D9B
65Annotation score:
E5RIN2E5RIN2_HUMAN
TBC1 domain family member 9B
TBC1D9B
100Annotation score:

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 dbSNP:rs1057078Ensembl.1
Natural variantiVAR_032441706V → I. Corresponds to variant dbSNP:rs10037618Ensembl.1
Natural variantiVAR_0361961086P → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0324421119K → T4 PublicationsCorresponds to variant dbSNP:rs30386Ensembl.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]
ENST00000639361; ENSP00000491970; ENSG00000284400 [Q66K14-1]
ENST00000639711; ENSP00000491373; ENSG00000284400 [Q66K14-2]
GeneIDi23061
KEGGihsa:23061
UCSCiuc003mlh.4 human [Q66K14-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116696, 34 interactors
IntActiQ66K14, 10 interactors
STRINGi9606.ENSP00000349291

PTM databases

iPTMnetiQ66K14
PhosphoSitePlusiQ66K14

Polymorphism and mutation databases

BioMutaiTBC1D9B
DMDMi296452939

Proteomic databases

EPDiQ66K14
MaxQBiQ66K14
PaxDbiQ66K14
PeptideAtlasiQ66K14
PRIDEiQ66K14
ProteomicsDBi65950
65951 [Q66K14-2]

Protocols and materials databases

DNASUi23061
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355235; ENSP00000347375; ENSG00000197226 [Q66K14-2]
ENST00000356834; ENSP00000349291; ENSG00000197226 [Q66K14-1]
ENST00000639361; ENSP00000491970; ENSG00000284400 [Q66K14-1]
ENST00000639711; ENSP00000491373; ENSG00000284400 [Q66K14-2]
GeneIDi23061
KEGGihsa:23061
UCSCiuc003mlh.4 human [Q66K14-1]

Organism-specific databases

CTDi23061
EuPathDBiHostDB:ENSG00000197226.12
GeneCardsiTBC1D9B
HGNCiHGNC:29097 TBC1D9B
HPAiHPA038350
MIMi618039 gene
neXtProtiNX_Q66K14
OpenTargetsiENSG00000197226
PharmGKBiPA145148062
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4347 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOVERGENiHBG054142
InParanoidiQ66K14
KOiK19951
OMAiPIPHLHA
OrthoDBiEOG091G00RI
PhylomeDBiQ66K14
TreeFamiTF313145

Miscellaneous databases

ChiTaRSiTBC1D9B human
GenomeRNAii23061
PROiPR:Q66K14
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197226 Expressed in 229 organ(s), highest expression level in cerebellum
CleanExiHS_TBC1D9B
ExpressionAtlasiQ66K14 baseline and differential
GenevisibleiQ66K14 HS

Family and domain databases

CDDicd13351 PH-GRAM1_TCB1D9_TCB1D9B, 1 hit
cd13354 PH-GRAM2_TCB1D9_TCB1D9B, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR004182 GRAM
IPR011993 PH-like_dom_sf
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR036014 TCB1D9/TCB1D9B_PH-GRAM1
IPR036017 TCB1D9/TCB1D9B_PH-GRAM2
PfamiView protein in Pfam
PF02893 GRAM, 2 hits
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00568 GRAM, 2 hits
SM00164 TBC, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 1 hit
PS50086 TBC_RABGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBC9B_HUMAN
AccessioniPrimary (citable) accession number: Q66K14
Secondary accession number(s): D3DWQ5
, D3DWQ6, O75163, Q53EY0, Q6MZI2, Q96H49
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: October 10, 2018
This is version 124 of the entry and version 3 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

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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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