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    SIPA1L2 signal induced proliferation associated 1 like 2 [ Homo sapiens (human) ]

    Gene ID: 57568, updated on 17-Jun-2019

    Summary

    Official Symbol
    SIPA1L2provided by HGNC
    Official Full Name
    signal induced proliferation associated 1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:23800
    See related
    Ensembl:ENSG00000116991 MIM:611609
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPAL2; SPAR2
    Summary
    This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in heart (RPKM 11.7), placenta (RPKM 10.4) and 24 other tissues See more
    Orthologs

    Genomic context

    See SIPA1L2 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (232397965..232630491, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (232533711..232765907, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373196 Neighboring gene uncharacterized LOC105373198 Neighboring gene RNA, U6 small nuclear 1211, pseudogene Neighboring gene long intergenic non-protein coding RNA 1745

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.
    NHGRI GWA Catalog
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    NHGRI GWA Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    NHGRI GWA Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    NHGRI GWA Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
      Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Rap1 signaling pathway, conserved biosystem (from KEGG)
      Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23126, FLJ23632, KIAA1389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    signal-induced proliferation-associated 1-like protein 2
    Names
    SIPA1-like protein 2
    SPA-1-like 2
    spine-associated RapGAP 2

    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_020808.4NP_065859.3  signal-induced proliferation-associated 1-like protein 2

      See identical proteins and their annotated locations for NP_065859.3

      Status: REVIEWED

      Source sequence(s)
      AL157409, AY168879, BC082251, CB242802, CN425351
      Consensus CDS
      CCDS41474.1
      UniProtKB/Swiss-Prot
      Q9P2F8
      Related
      ENSP00000262861.4, ENST00000262861.8
      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231666
      SPAR_C; C-terminal domain of SPAR protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      232397965..232630491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001896.1XP_016857385.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9P2F8
      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231666
      SPAR_C; C-terminal domain of SPAR protein
    2. XM_005273211.2XP_005273268.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005273268.1

      UniProtKB/Swiss-Prot
      Q9P2F8
      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231666
      SPAR_C; C-terminal domain of SPAR protein
    3. XM_005273212.4XP_005273269.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005273269.1

      UniProtKB/Swiss-Prot
      Q9P2F8
      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231666
      SPAR_C; C-terminal domain of SPAR protein
    4. XM_011544243.2XP_011542545.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011542545.1

      UniProtKB/Swiss-Prot
      Q9P2F8
      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231666
      SPAR_C; C-terminal domain of SPAR protein
    5. XM_005273213.4XP_005273270.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005273270.1

      UniProtKB/Swiss-Prot
      Q9P2F8
      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231666
      SPAR_C; C-terminal domain of SPAR protein
    6. XM_017001898.2XP_016857387.1  signal-induced proliferation-associated 1-like protein 2 isoform X2

      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231648
      SPAR_C; C-terminal domain of SPAR protein
    7. XM_017001897.2XP_016857386.1  signal-induced proliferation-associated 1-like protein 2 isoform X2

      Conserved Domains (3) summary
      cd00992
      Location:9501020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:14231648
      SPAR_C; C-terminal domain of SPAR protein
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