Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 118 (17 Jun 2020)
Sequence version 2 (20 May 2008)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

TBC1 domain family member 8B

Gene

TBC1D8B

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei534Arginine fingerBy similarity1
Sitei573Glutamine fingerBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-432722 Golgi Associated Vesicle Biogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
TBC1 domain family member 8B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TBC1D8B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000133138.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24715 TBC1D8B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
301027 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q0IIM8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nephrotic syndrome 20 (NPHS20)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082286246Q → H in NPHS20; rescues only partially glomerular filtration defects in tbc1d8b knockout fish; defective vesicular trafficking in podocytes. 1 PublicationCorresponds to variant dbSNP:rs761410195Ensembl.1
Natural variantiVAR_082287291F → S in NPHS20; exhibits intracellular vesicular localization; rescues only partially glomerular filtration defects in tbc1d8b knockout fish; reduced podocyte migration; defective vesicular trafficking in podocytes. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
54885

MalaCards human disease database

More...
MalaCardsi
TBC1D8B
MIMi301028 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000133138

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
656 Genetic steroid-resistant nephrotic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148061

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q0IIM8 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBC1D8B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
189029914

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003371831 – 1120TBC1 domain family member 8BAdd BLAST1120

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q0IIM8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q0IIM8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q0IIM8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q0IIM8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q0IIM8

PeptideAtlas

More...
PeptideAtlasi
Q0IIM8

PRoteomics IDEntifications database

More...
PRIDEi
Q0IIM8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
58757 [Q0IIM8-1]
58758 [Q0IIM8-2]
58759 [Q0IIM8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q0IIM8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q0IIM8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Kidney (at protein level).1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in glomerular podocytes and tubules in the fetal kidney (gestational age 25 weeks)(at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000133138 Expressed in left adrenal gland cortex and 174 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q0IIM8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q0IIM8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000133138 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via domain Rab-GAP TBC) with RAB11B (in GTP-bound form).

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120233, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q0IIM8, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000349781

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q0IIM8 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini145 – 212GRAM 1Sequence analysisAdd BLAST68
Domaini285 – 353GRAM 2Sequence analysisAdd BLAST69
Domaini487 – 674Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST188
Domaini858 – 893EF-handPROSITE-ProRule annotationAdd BLAST36

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4347 Eukaryota
COG5210 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159451

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_024152_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q0IIM8

KEGG Orthology (KO)

More...
KOi
K19951

Identification of Orthologs from Complete Genome Data

More...
OMAi
KTSHTRV

Database of Orthologous Groups

More...
OrthoDBi
450360at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q0IIM8

TreeFam database of animal gene trees

More...
TreeFami
TF313145

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13350 PH-GRAM1_TBC1D8B, 1 hit
cd13352 PH-GRAM2_TBC1D8B, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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
IPR036012 TBC1D8B_PH-GRAM1
IPR036015 TBC1D8B_PH-GRAM2

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02893 GRAM, 2 hits
PF00566 RabGAP-TBC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00568 GRAM, 2 hits
SM00164 TBC, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit
SSF47923 SSF47923, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50086 TBC_RABGAP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q0IIM8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MWLKPEEVLL KNALKLWLME RSNDYFVLQR RRGYGEEGGG GLTGLLVGTL
60 70 80 90 100
DSVLDSTAKV APFRILHQTP DSQVYLSIAC GANREEITKH WDWLEQNIMK
110 120 130 140 150
TLSVFDSNED ITNFVQGKIR GLIAEEGKHC FAKEDDPEKF REALLKFEKC
160 170 180 190 200
FGLPEKEKLV TYYSCSYWKG RVPCQGWLYL STNFLSFYSF LLGSEIKLII
210 220 230 240 250
SWDEVSKLEK TSNVILTESI HVCSQGENHY FSMFLHINQT YLLMEQLANY
260 270 280 290 300
AIRRLFDKET FDNDPVLYNP LQITKRGLEN RAHSEQFNAF FRLPKGESLK
310 320 330 340 350
EVHECFLWVP FSHFNTHGKM CISENYICFA SQDGNQCSVI IPLREVLAID
360 370 380 390 400
KTNDSSKSVI ISIKGKTAFR FHEVKDFEQL VAKLRLRCGA ASTQYHDIST
410 420 430 440 450
ELAISSESTE PSDNFEVQSL TSQRECSKTV NTEALMTVFH PQNLETLNSK
460 470 480 490 500
MLKEKMKEQS WKILFAECGR GVSMFRTKKT RDLVVRGIPE TLRGELWMLF
510 520 530 540 550
SGAVNDMATN PDYYTEVVEQ SLGTCNLATE EIERDLRRSL PEHPAFQSDT
560 570 580 590 600
GISALRRVLT AYAYRNPKIG YCQAMNILTS VLLLYAKEEE AFWLLVAVCE
610 620 630 640 650
RMLPDYFNRR IIGALVDQAV FEELIRDHLP QLTEHMTDMT FFSSVSLSWF
660 670 680 690 700
LTLFISVLPI ESAVNVVDCF FYDGIKAILQ LGLAILDYNL DKLLTCKDDA
710 720 730 740 750
EAVTALNRFF DNVTNKDSPL PSNVQQGSNV SDEKTSHTRV DITDLIRESN
760 770 780 790 800
EKYGNIRYED IHSMRCRNRL YVIQTLEETT KQNVLRVVSQ DVKLSLQELD
810 820 830 840 850
ELYVIFKKEL FLSCYWCLGC PVLKHHDPSL PYLEQYQIDC QQFRALYHLL
860 870 880 890 900
SPWAHSANKD SLALWTFRLL DENSDCLINF KEFSSAIDIM YNGSFTEKLK
910 920 930 940 950
LLFKLHIPPA YTEVKSKDAS KGDELSKEEL LYFSQLHVSK PANEKEAESA
960 970 980 990 1000
KHSPEKGKGK IDIQAYLSQW QDELFKKEEN IKDLPRMNQS QFIQFSKTLY
1010 1020 1030 1040 1050
NLFHEDPEEE SLYQAIAVVT SLLLRMEEVG RKLHSPTSSA KGFSGTVCGS
1060 1070 1080 1090 1100
GGPSEEKTGS HLEKDPCSFR EEPQWSFAFE QILASLLNEP ALVRFFEKPI
1110 1120
DVKAKLENAR ISQLRSRTKM
Length:1,120
Mass (Da):128,709
Last modified:May 20, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3629EF0AE95E7A96
GO
Isoform 2 (identifier: Q0IIM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     614-632: ALVDQAVFEELIRDHLPQL → SDDFMPLVRIQGQCVIG
     633-1120: Missing.

Show »
Length:630
Mass (Da):72,366
Checksum:i61D2BEA7369CA101
GO
Isoform 3 (identifier: Q0IIM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     614-632: ALVDQAVFEELIRDHLPQL → SDDFMPLVRIQGQCVIGEK
     633-1120: Missing.

Show »
Length:632
Mass (Da):72,623
Checksum:i8C8AA1D2BEA7369C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KN75J3KN75_HUMAN
TBC1 domain family member 8B
TBC1D8B
1,114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y552H0Y552_HUMAN
TBC1 domain family member 8B
TBC1D8B
218Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RFZ2D6RFZ2_HUMAN
TBC1 domain family member 8B
TBC1D8B
419Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RC82D6RC82_HUMAN
TBC1 domain family member 8B
TBC1D8B
22Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91071 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti503A → V in BAC85735 (PubMed:14702039).Curated1
Sequence conflicti891Y → C in BAA91071 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_082286246Q → H in NPHS20; rescues only partially glomerular filtration defects in tbc1d8b knockout fish; defective vesicular trafficking in podocytes. 1 PublicationCorresponds to variant dbSNP:rs761410195Ensembl.1
Natural variantiVAR_082287291F → S in NPHS20; exhibits intracellular vesicular localization; rescues only partially glomerular filtration defects in tbc1d8b knockout fish; reduced podocyte migration; defective vesicular trafficking in podocytes. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_033953614 – 632ALVDQ…HLPQL → SDDFMPLVRIQGQCVIG in isoform 2. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_043710614 – 632ALVDQ…HLPQL → SDDFMPLVRIQGQCVIGEK in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_033954633 – 1120Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST488

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB449890 mRNA Translation: BAH16633.1
AB449891 mRNA Translation: BAH16634.1
AK000305 mRNA Translation: BAA91071.1 Different initiation.
AK123957 mRNA Translation: BAC85735.1
AL391315 Genomic DNA No translation available.
AL591849 Genomic DNA No translation available.
BC122564 mRNA Translation: AAI22565.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14522.1 [Q0IIM8-1]
CCDS14523.1 [Q0IIM8-3]

NCBI Reference Sequences

More...
RefSeqi
NP_060222.2, NM_017752.2 [Q0IIM8-1]
NP_942582.1, NM_198881.1 [Q0IIM8-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000310452; ENSP00000310675; ENSG00000133138 [Q0IIM8-3]
ENST00000357242; ENSP00000349781; ENSG00000133138 [Q0IIM8-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54885

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54885

UCSC genome browser

More...
UCSCi
uc004emn.5 human [Q0IIM8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449890 mRNA Translation: BAH16633.1
AB449891 mRNA Translation: BAH16634.1
AK000305 mRNA Translation: BAA91071.1 Different initiation.
AK123957 mRNA Translation: BAC85735.1
AL391315 Genomic DNA No translation available.
AL591849 Genomic DNA No translation available.
BC122564 mRNA Translation: AAI22565.1
CCDSiCCDS14522.1 [Q0IIM8-1]
CCDS14523.1 [Q0IIM8-3]
RefSeqiNP_060222.2, NM_017752.2 [Q0IIM8-1]
NP_942582.1, NM_198881.1 [Q0IIM8-3]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120233, 1 interactor
IntActiQ0IIM8, 1 interactor
STRINGi9606.ENSP00000349781

PTM databases

iPTMnetiQ0IIM8
PhosphoSitePlusiQ0IIM8

Polymorphism and mutation databases

BioMutaiTBC1D8B
DMDMi189029914

Proteomic databases

EPDiQ0IIM8
jPOSTiQ0IIM8
MassIVEiQ0IIM8
MaxQBiQ0IIM8
PaxDbiQ0IIM8
PeptideAtlasiQ0IIM8
PRIDEiQ0IIM8
ProteomicsDBi58757 [Q0IIM8-1]
58758 [Q0IIM8-2]
58759 [Q0IIM8-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
15056 28 antibodies

Genome annotation databases

EnsembliENST00000310452; ENSP00000310675; ENSG00000133138 [Q0IIM8-3]
ENST00000357242; ENSP00000349781; ENSG00000133138 [Q0IIM8-1]
GeneIDi54885
KEGGihsa:54885
UCSCiuc004emn.5 human [Q0IIM8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54885
DisGeNETi54885
EuPathDBiHostDB:ENSG00000133138.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TBC1D8B
HGNCiHGNC:24715 TBC1D8B
HPAiENSG00000133138 Low tissue specificity
MalaCardsiTBC1D8B
MIMi301027 gene
301028 phenotype
neXtProtiNX_Q0IIM8
OpenTargetsiENSG00000133138
Orphaneti656 Genetic steroid-resistant nephrotic syndrome
PharmGKBiPA145148061

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4347 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00940000159451
HOGENOMiCLU_024152_0_0_1
InParanoidiQ0IIM8
KOiK19951
OMAiKTSHTRV
OrthoDBi450360at2759
PhylomeDBiQ0IIM8
TreeFamiTF313145

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
54885 3 hits in 415 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
54885
PharosiQ0IIM8 Tdark

Protein Ontology

More...
PROi
PR:Q0IIM8
RNActiQ0IIM8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000133138 Expressed in left adrenal gland cortex and 174 other tissues
ExpressionAtlasiQ0IIM8 baseline and differential
GenevisibleiQ0IIM8 HS

Family and domain databases

CDDicd13350 PH-GRAM1_TBC1D8B, 1 hit
cd13352 PH-GRAM2_TBC1D8B, 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
IPR036012 TBC1D8B_PH-GRAM1
IPR036015 TBC1D8B_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
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50086 TBC_RABGAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTBC8B_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q0IIM8
Secondary accession number(s): B9A6K5
, B9A6K6, Q5JRB7, Q6ZVX5, Q9NXE3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: June 17, 2020
This is version 118 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again