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Aliases for SEC23IP Gene

Aliases for SEC23IP Gene

  • SEC23 Interacting Protein 2 3
  • P125 3 4
  • SEC23-Interacting Protein 3
  • MSTP053 3
  • P125A 3

External Ids for SEC23IP Gene

Previous GeneCards Identifiers for SEC23IP Gene

  • GC10P120895
  • GC10P121783
  • GC10P121316
  • GC10P121642
  • GC10P115281

Summaries for SEC23IP Gene

Entrez Gene Summary for SEC23IP Gene

  • 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]

GeneCards Summary for SEC23IP Gene

SEC23IP (SEC23 Interacting Protein) is a Protein Coding gene. Diseases associated with SEC23IP include nodular malignant melanoma. An important paralog of this gene is DDHD1.

UniProtKB/Swiss-Prot for SEC23IP Gene

  • Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P).

Gene Wiki entry for SEC23IP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC23IP Gene

Genomics for SEC23IP Gene

Regulatory Elements for SEC23IP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SEC23IP Gene

Start:
119,892,573 bp from pter
End:
119,944,658 bp from pter
Size:
52,086 bases
Orientation:
Plus strand

Genomic View for SEC23IP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEC23IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC23IP Gene

Proteins for SEC23IP Gene

  • Protein details for SEC23IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Y8-S23IP_HUMAN
    Recommended name:
    SEC23-interacting protein
    Protein Accession:
    Q9Y6Y8
    Secondary Accessions:
    • D3DRD2
    • Q8IXH5
    • Q9BUK5

    Protein attributes for SEC23IP Gene

    Size:
    1000 amino acids
    Molecular mass:
    111076 Da
    Quaternary structure:
    • Interacts with SEC23A.
    SequenceCaution:
    • Sequence=AAP35401.1; Type=Frameshift; Positions=471; Evidence={ECO:0000305};

    Alternative splice isoforms for SEC23IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC23IP Gene

Proteomics data for SEC23IP Gene at MOPED

Post-translational modifications for SEC23IP Gene

  • Ubiquitination at Lys477, Lys871, and Lys938
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC23IP Gene

No data available for DME Specific Peptides for SEC23IP Gene

Domains for SEC23IP Gene

Gene Families for SEC23IP Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for SEC23IP Gene

Suggested Antigen Peptide Sequences for SEC23IP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6Y8

UniProtKB/Swiss-Prot:

S23IP_HUMAN :
  • Q9Y6Y8
Domain:
  • Contains 1 DDHD domain.
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the PA-PLA1 family.
genes like me logo Genes that share domains with SEC23IP: view

Function for SEC23IP Gene

Molecular function for SEC23IP Gene

UniProtKB/Swiss-Prot Function: Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P).

Gene Ontology (GO) - Molecular Function for SEC23IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SEC23IP: view

Phenotypes for SEC23IP Gene

genes like me logo Genes that share phenotypes with SEC23IP: view

Animal Models for SEC23IP Gene

MGI Knock Outs for SEC23IP:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEC23IP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SEC23IP Gene

Localization for SEC23IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC23IP Gene

Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEC23IP Gene COMPARTMENTS Subcellular localization image for SEC23IP gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for SEC23IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10400679
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment TAS 10400679
GO:0005801 cis-Golgi network IEA --
GO:0012507 ER to Golgi transport vesicle membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with SEC23IP: view

Pathways for SEC23IP Gene

SuperPathways for SEC23IP Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEC23IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0006886 intracellular protein transport TAS 10400679
GO:0007030 Golgi organization TAS 10400679
GO:0007286 spermatid development --
GO:0007338 single fertilization IEA --
genes like me logo Genes that share ontologies with SEC23IP: view

No data available for Pathways by source for SEC23IP Gene

Compounds for SEC23IP Gene

(3) Novoseek inferred chemical compound relationships for SEC23IP Gene

Compound -log(P) Hits PubMed IDs
prostaglandin f2alpha 59.5 1
tyrosine 54 11
calcium 20 1
genes like me logo Genes that share compounds with SEC23IP: view

Transcripts for SEC23IP Gene

Unigene Clusters for SEC23IP Gene

SEC23 interacting protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEC23IP

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEC23IP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - - - -
SP2: - - - - - - - - - - -
SP3: -
SP4: -
SP5:
SP6: - - - - - - - -
SP7:
SP8: - -
SP9: - -
SP10:
SP11: -
SP12:
SP13:
SP14:

ExUns: 16b · 16c ^ 17a · 17b ^ 18a · 18b · 18c · 18d ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d
SP1: - -
SP2: -
SP3: -
SP4: - - - -
SP5: - -
SP6:
SP7: -
SP8:
SP9:
SP10: - - -
SP11:
SP12:
SP13:
SP14:

Relevant External Links for SEC23IP Gene

GeneLoc Exon Structure for
SEC23IP
ECgene alternative splicing isoforms for
SEC23IP

Expression for SEC23IP Gene

mRNA expression in normal human tissues for SEC23IP Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEC23IP Gene

SOURCE GeneReport for Unigene cluster for SEC23IP Gene Hs.435004

mRNA Expression by UniProt/SwissProt for SEC23IP Gene

Q9Y6Y8-S23IP_HUMAN
Tissue specificity: Ubiquitously expressed with stronger levels detected in heart, liver and skeletal muscle.
genes like me logo Genes that share expressions with SEC23IP: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SEC23IP Gene

Orthologs for SEC23IP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC23IP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEC23IP 35
  • 99.23 (n)
  • 98.9 (a)
SEC23IP 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEC23IP 35
  • 90.37 (n)
  • 90.7 (a)
SEC23IP 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEC23IP 35
  • 90.66 (n)
  • 91.69 (a)
SEC23IP 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sec23ip 35
  • 84.1 (n)
  • 85.74 (a)
Sec23ip 16
Sec23ip 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEC23IP 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC23IP 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sec23ip 35
  • 84.52 (n)
  • 87.06 (a)
chicken
(Gallus gallus)
Aves SEC23IP 35
  • 74.28 (n)
  • 75.93 (a)
SEC23IP 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEC23IP 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.17454 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sec23ip 35
  • 64.78 (n)
  • 67.89 (a)
Str.2854 35
zebrafish
(Danio rerio)
Actinopterygii sec23ip 35
  • 64.47 (n)
  • 67.09 (a)
sec23ip 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8552 36
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3376 36
  • 50 (a)
OneToMany
Species with no ortholog for SEC23IP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEC23IP Gene

ENSEMBL:
Gene Tree for SEC23IP (if available)
TreeFam:
Gene Tree for SEC23IP (if available)

Paralogs for SEC23IP Gene

Paralogs for SEC23IP Gene

Selected SIMAP similar genes for SEC23IP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SEC23IP: view

Variants for SEC23IP Gene

Sequence variations from dbSNP and Humsavar for SEC23IP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs10686 -- 119,941,648(+) TTTTT(G/T)AAAGT utr-variant-3-prime, nc-transcript-variant
rs14907 -- 119,940,723(-) TCCCT(A/T)TATCC utr-variant-3-prime, nc-transcript-variant
rs1052289 -- 119,940,743(+) CAGGA(C/T)ACAGA utr-variant-3-prime, nc-transcript-variant
rs1054931 -- 119,904,550(+) GCTGG(G/T)ATTTG intron-variant
rs1063732 -- 119,898,626(+) CTCCC(C/T)TTTAC synonymous-codon, reference, intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for SEC23IP Gene

Variant ID Type Subtype PubMed ID
nsv896044 CNV Gain 21882294

Relevant External Links for SEC23IP Gene

HapMap Linkage Disequilibrium report
SEC23IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC23IP Gene

Disorders for SEC23IP Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SEC23IP Gene including...

Search for SEC23IP Gene in MalaCards »

(1) University of Copenhagen DISEASES for SEC23IP Gene

Relevant External Links for SEC23IP

Genetic Association Database (GAD)
SEC23IP
Human Genome Epidemiology (HuGE) Navigator
SEC23IP
genes like me logo Genes that share disorders with SEC23IP: view

No data available for UniProtKB/Swiss-Prot for SEC23IP Gene

Publications for SEC23IP Gene

  1. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PMID: 15623529) Shimoi W. … Tani K. (J. Biol. Chem. 2005) 3 4 23
  2. p125 is a novel mammalian Sec23p-interacting protein with structural similarity to phospholipid-modifying proteins. (PMID: 10400679) Tani K. … Tagaya M. (J. Biol. Chem. 1999) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Determination of functional regions of p125, a novel mammalian Sec23p-interacting protein. (PMID: 11112430) Mizoguchi T. … Tani K. (Biochem. Biophys. Res. Commun. 2000) 3 23
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48

Products for SEC23IP Gene

Sources for SEC23IP Gene

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