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UniProtKB - Q2NKQ1 (SGSM1_HUMAN)

Entry version 119 (02 Dec 2020)
Sequence version 2 (17 Apr 2007)
Previous versions | rss
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Protein

Small G protein signaling modulator 1

Gene

SGSM1

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

Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B.1 Publication

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q2NKQ1

<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:
Small G protein signaling modulator 1
Alternative name(s):
RUN and TBC1 domain-containing protein 2
<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:SGSM1
Synonyms:KIAA1941, RUTBC2
<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 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%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 22

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000167037.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:29410, SGSM1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611417, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q2NKQ1

<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, Cytoplasmic vesicle, Golgi apparatus, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		129049

Open Targets

More...OpenTargetsi		ENSG00000167037

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162403086

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q2NKQ1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SGSM1

Domain mapping of disease mutations (DMDM)

More...DMDMi		145566945

<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_00002848331 – 1148Small G protein signaling modulator 1Add BLAST1148

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q2NKQ1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q2NKQ1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q2NKQ1

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

More...PaxDbi		Q2NKQ1

PeptideAtlas

More...PeptideAtlasi		Q2NKQ1

PRoteomics IDEntifications database

More...PRIDEi		Q2NKQ1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61410 [Q2NKQ1-1]
61411 [Q2NKQ1-3]
61412 [Q2NKQ1-4]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q2NKQ1

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q2NKQ1

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

More...PhosphoSitePlusi		Q2NKQ1

<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

Mainly expressed in brain, heart and testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000167037, Expressed in cardiac muscle of right atrium and 173 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q2NKQ1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q2NKQ1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000167037, Tissue enhanced (brain, parathyroid gland)

<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 with RAB9A (GTP-bound form) and RAB9B (GTP-bound form); has much lower affinity for GDP-bound RAB9A and RAB9B (PubMed:22637480).

Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126182, 12 interactors

Protein interaction database and analysis system

More...IntActi		Q2NKQ1, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000383212

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q2NKQ1, protein

<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

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

More...SMRi		Q2NKQ1

Database of comparative protein structure models

More...ModBasei		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%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>Domaini36 – 190RUNPROSITE-ProRule annotationAdd BLAST155
Domaini617 – 1081Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST465

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni256 – 297Important for interaction with RAB9A and RAB9BBy similarityAdd BLAST42
Regioni301 – 350Required for interaction with RAP family membersAdd BLAST50

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156871

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006235_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q2NKQ1

Identification of Orthologs from Complete Genome Data

More...OMAi		LMNGYNE

Database of Orthologous Groups

More...OrthoDBi		171826at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q2NKQ1

TreeFam database of animal gene trees

More...TreeFami		TF318216

Family and domain databases

Conserved Domains Database

More...CDDi		cd15784, PH_RUTBC, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.58.900, 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%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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2NKQ1-1) [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
MASAPAEAET RQRLLRTVKK EVKQIMEEAV TRKFVHEDSS HIISFCAAVE 
        60         70         80         90        100
ACVLHGLRRR AAGFLRSNKI AALFMKVGKN FPPAEDLSRK VQDLEQLIES 
       110        120        130        140        150
ARNQIQGLQE NVRKLPKLPN LSPLAIKHLW IRTALFEKVL DKIVHYLVEN 
       160        170        180        190        200
SSKYYEKEAL LMDPVDGPIL ASLLVGPCAL EYTKMKTADH FWTDPSADEL 
       210        220        230        240        250
VQRHRIHSSH VRQDSPTKRP ALCIQKRHSS GSMDDRPSLS ARDYVESLHQ 
       260        270        280        290        300
NSRATLLYGK NNVLVQPRDD MEAVPGYLSL HQTADVMTLK WTPNQLMNGS 
       310        320        330        340        350
VGDLDYEKSV YWDYAMTIRL EEIVYLHCHQ QVDSGGTVVL VSQDGIQRPP 
       360        370        380        390        400
FRFPKGGHLL QFLSCLENGL LPHGQLDPPL WSQRGKGKVF PKLRKRSPQG 
       410        420        430        440        450
SAESTSSDKD DDEATDYVFR IIYPGMQSEF VAPDFLGSTS SVSVGPAWMM 
       460        470        480        490        500
VPAGRSMLVV ARGSQWEPAR WDTTLPTPSP KEQPPMPQDL MDVSVSNLPS 
       510        520        530        540        550
LWQPSPRKSS CSSCSQSGSA DGSSTNGCNH ERAPLKLLCD NMKYQILSRA 
       560        570        580        590        600
FYGWLAYCRH LSTVRTHLSA LVNHMIVSPD LPCDAGQGLT ARIWEQYLHD 
       610        620        630        640        650
STSYEEQELL RLIYYGGIQP EIRKAVWPFL LGHYQFGMTE TERKEVDEQI 
       660        670        680        690        700
HACYAQTMAE WLGCEAIVRQ RERESHAAAL AKCSSGASLD SHLHRMLHRD 
       710        720        730        740        750
STISNESSQS CSSGRQNIRL HSDSSSSTQV FESVDEVEQV EAEGRLEEKQ 
       760        770        780        790        800
PKIPNGNLVN GTCSPDSGHP SSHNFSSGLS EHSEPSLSTE DSVLDAQRNT 
       810        820        830        840        850
PTVLRPRDGS VDDRQSSEAT TSQDEAPREE LAVQDSLESD LLANESMDEF 
       860        870        880        890        900
MSITGSLDMA LPEKDDVVME GWRSSETEKH GQADSEDNLS EEPEMESLFP 
       910        920        930        940        950
ALASLAVTTS ANEVSPVSSS GVTYSPELLD LYTVNLHRIE KDVQRCDRNY 
       960        970        980        990       1000
WYFTPANLEK LRNIMCSYIW QHIEIGYVQG MCDLLAPLLV ILDDEALAFS 
      1010       1020       1030       1040       1050
CFTELMKRMN QNFPHGGAMD THFANMRSLI QILDSELFEL MHQNGDYTHF 
      1060       1070       1080       1090       1100
YFCYRWFLLD FKRELVYDDV FLVWETIWAA KHVSSAHYVL FIALALVEVY 
      1110       1120       1130       1140 
RDIILENNMD FTDIIKFFNE MAERHNTKQV LKLARDLVYK VQTLIENK
Length:1,148
Mass (Da):129,718
Last modified:April 17, 2007 - 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:iD619F453BA914376
GO
Isoform 2 (identifier: Q2NKQ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.
     133-133: T → TALFEKVLDK...QTADVMTLKS
     432-486: Missing.
     645-705: Missing.

Show »
Length:1,165
Mass (Da):132,058
Checksum:i44AA39CBA02C1B9C
GO
Isoform 3 (identifier: Q2NKQ1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     432-486: Missing.

Show »
Length:1,093
Mass (Da):123,840
Checksum:iE900FBC496D776CE
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X241A0A087X241_HUMAN
Small G protein-signaling modulator...
SGSM1
1,087Annotation 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 BAB85527 differs from that shown. Reason: Erroneous initiation.Curated

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_031834802T → P. Corresponds to variant dbSNP:rs6004350Ensembl.1
Natural variantiVAR_031835873R → K. Corresponds to variant dbSNP:rs2073201Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0246651 – 25Missing in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_024666133T → TALFEKVLDKIVHYLVENSS KYYEKEALLMDPVDGPILAS LLVGPCALEYTKMKTADHFW TDPSADELVQRHRIHSSHVR QDSPTKRPALCIQKRHSSGS MDDRPSLSARDYVESLHQNS RATLLYGKNNVLVQPRDDME AVPGYLSLHQTADVMTLKS in isoform 2. 2 Publications1
Alternative sequenceiVSP_024667432 – 486Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST55
Alternative sequenceiVSP_024668645 – 705Missing in isoform 2. 2 PublicationsAdd BLAST61

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
AB275761 mRNA Translation: BAF63511.1
AB449879 mRNA Translation: BAH16622.1
AB075821 mRNA Translation: BAB85527.1 Different initiation.
AL049759 Genomic DNA No translation available.
AP000359 Genomic DNA No translation available.
BC036915 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46674.1 [Q2NKQ1-1]
CCDS46675.1 [Q2NKQ1-4]

NCBI Reference Sequences

More...RefSeqi		NP_001035037.1, NM_001039948.3 [Q2NKQ1-1]
NP_001091967.1, NM_001098497.2 [Q2NKQ1-4]
NP_001091968.1, NM_001098498.2
NP_597711.1, NM_133454.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000400358; ENSP00000383211; ENSG00000167037 [Q2NKQ1-4]
ENST00000400359; ENSP00000383212; ENSG00000167037 [Q2NKQ1-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		129049

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:129049

UCSC genome browser

More...UCSCi		uc003abg.3, human [Q2NKQ1-1]

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
AB275761 mRNA Translation: BAF63511.1
AB449879 mRNA Translation: BAH16622.1
AB075821 mRNA Translation: BAB85527.1 Different initiation.
AL049759 Genomic DNA No translation available.
AP000359 Genomic DNA No translation available.
BC036915 mRNA No translation available.
CCDSiCCDS46674.1 [Q2NKQ1-1]
CCDS46675.1 [Q2NKQ1-4]
RefSeqiNP_001035037.1, NM_001039948.3 [Q2NKQ1-1]
NP_001091967.1, NM_001098497.2 [Q2NKQ1-4]
NP_001091968.1, NM_001098498.2
NP_597711.1, NM_133454.3

3D structure databases

SMRiQ2NKQ1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126182, 12 interactors
IntActiQ2NKQ1, 3 interactors
STRINGi9606.ENSP00000383212

PTM databases

CarbonylDBiQ2NKQ1
iPTMnetiQ2NKQ1
PhosphoSitePlusiQ2NKQ1

Polymorphism and mutation databases

BioMutaiSGSM1
DMDMi145566945

Proteomic databases

jPOSTiQ2NKQ1
MassIVEiQ2NKQ1
MaxQBiQ2NKQ1
PaxDbiQ2NKQ1
PeptideAtlasiQ2NKQ1
PRIDEiQ2NKQ1
ProteomicsDBi61410 [Q2NKQ1-1]
61411 [Q2NKQ1-3]
61412 [Q2NKQ1-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		308, 86 antibodies

Genome annotation databases

EnsembliENST00000400358; ENSP00000383211; ENSG00000167037 [Q2NKQ1-4]
ENST00000400359; ENSP00000383212; ENSG00000167037 [Q2NKQ1-1]
GeneIDi129049
KEGGihsa:129049
UCSCiuc003abg.3, human [Q2NKQ1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		129049
DisGeNETi129049
EuPathDBiHostDB:ENSG00000167037.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		SGSM1
HGNCiHGNC:29410, SGSM1
HPAiENSG00000167037, Tissue enhanced (brain, parathyroid gland)
MIMi611417, gene
neXtProtiNX_Q2NKQ1
OpenTargetsiENSG00000167037
PharmGKBiPA162403086

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1648, Eukaryota
GeneTreeiENSGT00940000156871
HOGENOMiCLU_006235_0_0_1
InParanoidiQ2NKQ1
OMAiLMNGYNE
OrthoDBi171826at2759
PhylomeDBiQ2NKQ1
TreeFamiTF318216

Enzyme and pathway databases

PathwayCommonsiQ2NKQ1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		129049, 3 hits in 835 CRISPR screens

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

More...ChiTaRSi		SGSM1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SGSM1

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

More...GenomeRNAii		129049
PharosiQ2NKQ1, Tbio

Protein Ontology

More...PROi		PR:Q2NKQ1
RNActiQ2NKQ1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000167037, Expressed in cardiac muscle of right atrium and 173 other tissues
ExpressionAtlasiQ2NKQ1, baseline and differential
GenevisibleiQ2NKQ1, HS

Family and domain databases

CDDicd15784, PH_RUTBC, 1 hit
Gene3Di1.20.58.900, 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...

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 nameiSGSM1_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: Q2NKQ1
Secondary accession number(s): A5LGW1
, A8MUT4, B0QYW0, B0QYW1, B5MEG1, B9A6J4, Q5TFL3, Q8TF60
<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: April 17, 2007
Last sequence update: April 17, 2007
Last modified: December 2, 2020
This is version 119 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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