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    SEC23IP SEC23 interacting protein [ Homo sapiens (human) ]

    Gene ID: 11196, updated on 22-Apr-2017
    Official Symbol
    SEC23IPprovided by HGNC
    Official Full Name
    SEC23 interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:17018
    See related
    Ensembl:ENSG00000107651 Vega:OTTHUMG00000019161
    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
    P125; P125A; MSTP053
    Summary
    This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
    Orthologs
    Location:
    10q26.11-q26.12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (119892573..119944658)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121652085..121704170)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate-5-phosphatase F Neighboring gene uncharacterized LOC105378513 Neighboring gene phosphatase and actin regulator 2 pseudogene 1 Neighboring gene minichromosome maintenance complex binding protein Neighboring gene microRNA 4682 Neighboring gene nascent polypeptide associated complex alpha subunit pseudogene 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Golgi organization TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ER to Golgi transport vesicle TAS
    Traceable Author Statement
    more info
     
    ER to Golgi transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    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_007190.3NP_009121.1  SEC23-interacting protein

      See identical proteins and their annotated locations for NP_009121.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes a functional protein.
      Source sequence(s)
      AB019435, AC027672, AI093198, BC063800, DA193345
      Consensus CDS
      CCDS7618.1
      UniProtKB/Swiss-Prot
      Q9Y6Y8
      Related
      ENSP00000358071.3, OTTHUMP00000020613, ENST00000369075.7, OTTHUMT00000050688
      Conserved Domains (3) summary
      cd09584
      Location:638702
      SAM_sec23ip; SAM domain of sec23ip
      smart00454
      Location:641701
      SAM; Sterile alpha motif
      pfam02862
      Location:782988
      DDHD; DDHD domain

    RNA

    1. NR_037771.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC027672, AI093198, AK301517, BC063800, DA193345, DA942854

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      119892573..119944658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269469.2XP_005269526.1  SEC23-interacting protein isoform X1

      Conserved Domains (3) summary
      cd09584
      Location:638702
      SAM_sec23ip; SAM domain of sec23ip
      smart00454
      Location:641701
      SAM; Sterile alpha motif
      pfam02862
      Location:782987
      DDHD; DDHD domain
    2. XM_005269470.2XP_005269527.1  SEC23-interacting protein isoform X2

      Conserved Domains (3) summary
      cd09584
      Location:591655
      SAM_sec23ip; SAM domain of sec23ip
      smart00454
      Location:594654
      SAM; Sterile alpha motif
      pfam02862
      Location:735941
      DDHD; DDHD domain
    3. XM_017015610.1XP_016871099.1  SEC23-interacting protein isoform X3

    RNA

    1. XR_246061.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      121936950..121989022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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