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SGSM1 small G protein signaling modulator 1 [ Homo sapiens (human) ]

Gene ID: 129049, updated on 24-Nov-2020

Summary

Official Symbol
SGSM1provided by HGNC
Official Full Name
small G protein signaling modulator 1provided by HGNC
Primary source
HGNC:HGNC:29410
See related
Ensembl:ENSG00000167037 MIM:611417
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RUTBC2
Expression
Broad expression in brain (RPKM 6.6), heart (RPKM 5.6) and 15 other tissues See more
Orthologs

Genomic context

See SGSM1 in Genome Data Viewer
Location:
22q11.23
Exon count:
26
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (24806211..24927578)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25202136..25322813)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene cysteine rich protein 1 pseudogene 4 Neighboring gene piwi like RNA-mediated gene silencing 3 Neighboring gene DNA topoisomerase I pseudogene 2 Neighboring gene transmembrane protein 211 Neighboring gene KIAA1671 Neighboring gene KIAA1671 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1941, MGC133298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
small G protein signaling modulator 1
Names
RUN and TBC1 domain containing 2
RUN and TBC1 domain-containing protein 2
small G protein signaling modulator 1 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039948.4NP_001035037.1  small G protein signaling modulator 1 isoform 1

    See identical proteins and their annotated locations for NP_001035037.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1) and includes two alternate in-frame exons.
    Source sequence(s)
    AB275761, AL050312, AP000359, AW028652, BC036915, BC111698, BM930881
    Consensus CDS
    CCDS46674.1
    UniProtKB/Swiss-Prot
    Q2NKQ1
    Related
    ENSP00000383212.4, ENST00000400359.4
    Conserved Domains (3) summary
    smart00164
    Location:9361105
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:254425
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:44188
    RUN; RUN domain
  2. NM_001098497.3NP_001091967.1  small G protein signaling modulator 1 isoform 3

    See identical proteins and their annotated locations for NP_001091967.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, and includes an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AB275761, AL050312, AP000359, AW028652, BM930881
    Consensus CDS
    CCDS46675.1
    UniProtKB/Swiss-Prot
    Q2NKQ1
    Related
    ENSP00000383211.4, ENST00000400358.8
    Conserved Domains (3) summary
    smart00164
    Location:8811050
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:254425
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:44188
    RUN; RUN domain
  3. NM_001098498.3NP_001091968.1  small G protein signaling modulator 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AB075821, AB275761, AL050312, AP000359, AW028652, BC111698, BM930881
    UniProtKB/Swiss-Prot
    Q2NKQ1
    Conserved Domains (3) summary
    smart00164
    Location:820989
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:254425
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:44188
    RUN; RUN domain
  4. NM_133454.4NP_597711.1  small G protein signaling modulator 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB275761, AL050312, AP000359, AW028652, BC036915, BC111698, BM930881
    Consensus CDS
    CCDS74834.1
    UniProtKB/Swiss-Prot
    Q2NKQ1
    UniProtKB/TrEMBL
    A0A087X241
    Related
    ENSP00000484682.1, ENST00000610372.4
    Conserved Domains (3) summary
    smart00164
    Location:8751044
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:254425
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:44188
    RUN; RUN domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    24806211..24927578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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