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UniProtKB - O43147 (SGSM2_HUMAN)

Protein

Small G protein signaling modulator 2

Gene

SGSM2

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

Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).2 Publications

<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

  • GTPase activator activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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

<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_and_taxonomy_section">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:
Small G protein signaling modulator 2
Alternative name(s):
RUN and TBC1 domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SGSM2
Synonyms:KIAA0397, RUTBC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000141258.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:29026 SGSM2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611418 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43147

<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

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi803R → A: Loss of GTPase activator activity towards RAB32, RAB33B and RAB38. 2 Publications1

Organism-specific databases

DisGeNET

More...DisGeNETi		9905

Open Targets

More...OpenTargetsi		ENSG00000141258

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162403141

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SGSM2

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002846621 – 1006Small G protein signaling modulator 2Add BLAST1006

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei402PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O43147

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43147

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43147

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

More...PaxDbi		O43147

PeptideAtlas

More...PeptideAtlasi		O43147

PRoteomics IDEntifications database

More...PRIDEi		O43147

ProteomicsDB human proteome resource

More...ProteomicsDBi		48761
48762 [O43147-2]
48763 [O43147-3]
48764 [O43147-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43147

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

More...PhosphoSitePlusi		O43147

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141258 Expressed in 224 organ(s), highest expression level in cauda epididymis

CleanEx database of gene expression profiles

More...CleanExi		HS_SGSM2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43147 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43147 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA021641
HPA024553

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAB4A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819). Interacts with RAB9A (PubMed:26620560, PubMed:21808068).3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115234, 17 interactors

Protein interaction database and analysis system

More...IntActi		O43147, 14 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268989

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O43147

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O43147

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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_and_domains_section">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>Domaini34 – 191RUNPROSITE-ProRule annotationAdd BLAST158
Domaini566 – 939Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST374

<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 Rab-GAP TBC domain possesses GTPase activator activity.2 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RUTBC family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1648 Eukaryota
COG5210 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159315

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007057

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG108483

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43147

KEGG Orthology (KO)

More...KOi		K21851

Identification of Orthologs from Complete Genome Data

More...OMAi		FLATHPI

Database of Orthologous Groups

More...OrthoDBi		171826at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43147

TreeFam database of animal gene trees

More...TreeFami		TF318216

Family and domain databases

Conserved Domains Database

More...CDDi		cd15784 PH_RUTBC, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR037745 SGSM1/2
IPR021935 SGSM1/2_RBD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12068 PH_RBD, 1 hit
PF00566 RabGAP-TBC, 1 hit
PF02759 RUN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00593 RUN, 1 hit
SM00164 TBC, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF140741 SSF140741, 1 hit
SSF47923 SSF47923, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50826 RUN, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43147-1) [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
MGSAEDAVKE KLLWNVKKEV KQIMEEAVTR KFVHEDSSHI IALCGAVEAC 
        60         70         80         90        100
LLHQLRRRAA GFLRSDKMAA LFTKVGKTCP VAGEICHKVQ ELQQQAEGRK 
       110        120        130        140        150
PSGVSQEALR RQGSASGKAP ALSPQALKHV WVRTALIEKV LDKVVQYLAE 
       160        170        180        190        200
NCSKYYEKEA LLADPVFGPI LASLLVGPCA LEYTKLKTAD HYWTDPSADE 
       210        220        230        240        250
LVQRHRIRGP PTRQDSPAKR PALGIRKRHS SGSASEDRLA ACARECVESL 
       260        270        280        290        300
HQNSRTRLLY GKNHVLVQPK EDMEAVPGYL SLHQSAESLT LKWTPNQLMN 
       310        320        330        340        350
GTLGDSELEK SVYWDYALVV PFSQVVCIHC HQQKSGGTLV LVSQDGIQRP 
       360        370        380        390        400
PLHFPQGGHL LSFLSCLENG LLPRGQLEPP LWTQQGKGKV FPKLRKRSSI 
       410        420        430        440        450
RSVDMEEMGT GRATDYVFRI IYPGHRHEHN AGDMIEMQGF GPSLPAWHLE 
       460        470        480        490        500
PLCSQGSSCL SCSSSSSPHA TPSHCSCIPD RLPLRLLCES MKRQIVSRAF 
       510        520        530        540        550
YGWLAHCRHL STVRTHLSAL VHHSVIPPDR PPGASAGLTK DVWSKYQKDK 
       560        570        580        590        600
KNYKELELLR QVYYGGIEHE IRKDVWPFLL GHYKFGMSKK EMEQVDAVVA 
       610        620        630        640        650
ARYQQVLAEW KACEVVVRQR EREAHPATRT KFSSGSSIDS HVQRLIHRDS 
       660        670        680        690        700
TISNDVFISV DDLEPPEPQD PEDSRPKPEQ EAGPGTPGTA VVEQQHSVEF 
       710        720        730        740        750
DSPDSGLPSS RNYSVASGIQ SSLDEGQSVG FEEEDGGGEE GSSGPGPAAH 
       760        770        780        790        800
TLREPQDPSQ EKPQAGELEA GEELAAVCAA AYTIELLDTV ALNLHRIDKD 
       810        820        830        840        850
VQRCDRNYWY FTPPNLERLR DVMCSYVWEH LDVGYVQGMC DLLAPLLVTL 
       860        870        880        890        900
DNDQLAYSCF SHLMKRMSQN FPNGGAMDTH FANMRSLIQI LDSELFELMH 
       910        920        930        940        950
QNGDYTHFYF CYRWFLLDFK RELLYEDVFA VWEVIWAARH ISSEHFVLFI 
       960        970        980        990       1000
ALALVEAYRE IIRDNNMDFT DIIKFFNERA EHHDAQEILR IARDLVHKVQ 

MLIENK
Length:1,006
Mass (Da):113,285
Last modified:April 17, 2007 - v4
<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:i352F6F6D6017B570
GO
Isoform 2 (identifier: O43147-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-430: N → ITINYHHLAASRAASVDDDEEEEDKLHAMLSMICSRNLTAPNPMKD

Show »
Length:1,051
Mass (Da):118,307
Checksum:i9177DC83B1AA185E
GO
Isoform 3 (identifier: O43147-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-412: Missing.
     413-430: ATDYVFRIIYPGHRHEHN → MLSMICSRNLTAPNPMKD
     552-569: NYKELELLRQVYYGGIEH → VPTLGFQGHRSRGWGGQE
     570-1006: Missing.

Note: No experimental confirmation available.
Show »
Length:157
Mass (Da):17,218
Checksum:i4D53486B0319C6FF
GO
Isoform 5 (identifier: O43147-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     978-1006: ERAEHHDAQEILRIARDLVHKVQMLIENK → GTSLKTTCKK

Show »
Length:987
Mass (Da):110,858
Checksum:i2F4EDF687918B4BE
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GYJ0V9GYJ0_HUMAN
Small G protein-signaling modulator...
SGSM2
316Annotation 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>
J3QSA2J3QSA2_HUMAN
Small G protein-signaling modulator...
SGSM2
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>
V9GYD2V9GYD2_HUMAN
Small G protein-signaling modulator...
SGSM2
70Annotation 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>
I3L361I3L361_HUMAN
Small G protein-signaling modulator...
SGSM2
95Annotation 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>
I3NI18I3NI18_HUMAN
Small G protein-signaling modulator...
SGSM2
36Annotation 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>
I3L1Y7I3L1Y7_HUMAN
Small G protein-signaling modulator...
SGSM2
29Annotation 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 BAA23693 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 conflicti159E → G in BAG58030 (PubMed:14702039).Curated1

Natural variant

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_03179563L → M2 PublicationsCorresponds to variant dbSNP:rs17853891Ensembl.1
Natural variantiVAR_031796238R → K2 PublicationsCorresponds to variant dbSNP:rs745400Ensembl.1
Natural variantiVAR_031797244R → S2 PublicationsCorresponds to variant dbSNP:rs17853888Ensembl.1
Natural variantiVAR_031798329H → R2 PublicationsCorresponds to variant dbSNP:rs17857178Ensembl.1
Natural variantiVAR_031799374R → Q2 PublicationsCorresponds to variant dbSNP:rs2248821Ensembl.1
Natural variantiVAR_031800968D → V2 PublicationsCorresponds to variant dbSNP:rs17857180Ensembl.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0245941 – 412Missing in isoform 3. 1 PublicationAdd BLAST412
Alternative sequenceiVSP_024595413 – 430ATDYV…RHEHN → MLSMICSRNLTAPNPMKD in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_024596430N → ITINYHHLAASRAASVDDDE EEEDKLHAMLSMICSRNLTA PNPMKD in isoform 2. 2 Publications1
Alternative sequenceiVSP_024597552 – 569NYKEL…GGIEH → VPTLGFQGHRSRGWGGQE in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_024598570 – 1006Missing in isoform 3. 1 PublicationAdd BLAST437
Alternative sequenceiVSP_035964978 – 1006ERAEH…LIENK → GTSLKTTCKK in isoform 5. 1 PublicationAdd BLAST29

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
AB275762 mRNA Translation: BAF63512.1
AB007857 mRNA Translation: BAA23693.3 Different initiation.
AK125203 mRNA Translation: BAC86084.1
AK294955 mRNA Translation: BAG58030.1
AC006435 Genomic DNA No translation available.
AL450226 Genomic DNA No translation available.
BC039204 mRNA Translation: AAH39204.1
BC040590 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32526.1 [O43147-2]
CCDS45570.1 [O43147-1]
CCDS86557.1 [O43147-5]

NCBI Reference Sequences

More...RefSeqi		NP_001091979.1, NM_001098509.1 [O43147-1]
NP_001333629.1, NM_001346700.1 [O43147-5]
NP_055668.2, NM_014853.2 [O43147-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.513861

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000268989; ENSP00000268989; ENSG00000141258 [O43147-2]
ENST00000426855; ENSP00000415107; ENSG00000141258 [O43147-1]
ENST00000574563; ENSP00000459126; ENSG00000141258 [O43147-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9905

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9905

UCSC genome browser

More...UCSCi		uc002fum.5 human [O43147-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB275762 mRNA Translation: BAF63512.1
AB007857 mRNA Translation: BAA23693.3 Different initiation.
AK125203 mRNA Translation: BAC86084.1
AK294955 mRNA Translation: BAG58030.1
AC006435 Genomic DNA No translation available.
AL450226 Genomic DNA No translation available.
BC039204 mRNA Translation: AAH39204.1
BC040590 mRNA No translation available.
CCDSiCCDS32526.1 [O43147-2]
CCDS45570.1 [O43147-1]
CCDS86557.1 [O43147-5]
RefSeqiNP_001091979.1, NM_001098509.1 [O43147-1]
NP_001333629.1, NM_001346700.1 [O43147-5]
NP_055668.2, NM_014853.2 [O43147-2]
UniGeneiHs.513861

3D structure databases

ProteinModelPortaliO43147
SMRiO43147
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115234, 17 interactors
IntActiO43147, 14 interactors
STRINGi9606.ENSP00000268989

PTM databases

iPTMnetiO43147
PhosphoSitePlusiO43147

Polymorphism and mutation databases

BioMutaiSGSM2

Proteomic databases

EPDiO43147
jPOSTiO43147
MaxQBiO43147
PaxDbiO43147
PeptideAtlasiO43147
PRIDEiO43147
ProteomicsDBi48761
48762 [O43147-2]
48763 [O43147-3]
48764 [O43147-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268989; ENSP00000268989; ENSG00000141258 [O43147-2]
ENST00000426855; ENSP00000415107; ENSG00000141258 [O43147-1]
ENST00000574563; ENSP00000459126; ENSG00000141258 [O43147-5]
GeneIDi9905
KEGGihsa:9905
UCSCiuc002fum.5 human [O43147-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9905
DisGeNETi9905
EuPathDBiHostDB:ENSG00000141258.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		SGSM2

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0173686
HGNCiHGNC:29026 SGSM2
HPAiHPA021641
HPA024553
MIMi611418 gene
neXtProtiNX_O43147
OpenTargetsiENSG00000141258
PharmGKBiPA162403141

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1648 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00940000159315
HOGENOMiHOG000007057
HOVERGENiHBG108483
InParanoidiO43147
KOiK21851
OMAiFLATHPI
OrthoDBi171826at2759
PhylomeDBiO43147
TreeFamiTF318216

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SGSM2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SGSM2

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

More...GenomeRNAii		9905

Protein Ontology

More...PROi		PR:O43147

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141258 Expressed in 224 organ(s), highest expression level in cauda epididymis
CleanExiHS_SGSM2
ExpressionAtlasiO43147 baseline and differential
GenevisibleiO43147 HS

Family and domain databases

CDDicd15784 PH_RUTBC, 1 hit
InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR037745 SGSM1/2
IPR021935 SGSM1/2_RBD
PfamiView protein in Pfam
PF12068 PH_RBD, 1 hit
PF00566 RabGAP-TBC, 1 hit
PF02759 RUN, 1 hit
SMARTiView protein in SMART
SM00593 RUN, 1 hit
SM00164 TBC, 1 hit
SUPFAMiSSF140741 SSF140741, 1 hit
SSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50826 RUN, 1 hit
PS50086 TBC_RABGAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiSGSM2_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: O43147
Secondary accession number(s): A5LGW2
, B4DH69, Q49AC2, Q6ZUY2, Q8IXU4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: January 16, 2019
This is version 126 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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