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SEC23IP SEC23 interacting protein [ Homo sapiens (human) ]

Gene ID: 11196, updated on 24-Nov-2020

Summary

Official Symbol
SEC23IPprovided by HGNC
Official Full Name
SEC23 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:17018
See related
Ensembl:ENSG00000107651 MIM:617852
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]
Expression
Ubiquitous expression in thyroid (RPKM 7.9), stomach (RPKM 7.7) and 25 other tissues See more
Orthologs

Genomic context

See SEC23IP in Genome Data Viewer
Location:
10q26.11-q26.12
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (119892696..119944657)
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 NACA pseudogene 2

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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
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
COPII-coated ER to Golgi transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
COPII-coated 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 IBA
Inferred from Biological aspect of Ancestor
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
 

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_007190.4NP_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
    Consensus CDS
    CCDS7618.1
    UniProtKB/Swiss-Prot
    Q9Y6Y8
    Related
    ENSP00000358071.3, ENST00000369075.8
    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_037771.2 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, DA942854

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    119892696..119944657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269469.3XP_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_002956945.1 RNA Sequence

  2. XR_246061.2 RNA Sequence

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