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Aliases for SEC23IP Gene

Aliases for SEC23IP Gene

  • SEC23 Interacting Protein 2 3 5
  • 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. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is DDHD2.

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

Enhancers for SEC23IP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SEC23IP on UCSC Golden Path with GeneCards custom track

Promoters for SEC23IP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEC23IP on UCSC Golden Path with GeneCards custom track

Genomic Location for SEC23IP Gene

Chromosome:
10
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

Genes around SEC23IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC23IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SEC23IP Gene

  • Ubiquitination at Lys 477, Lys 871, and Lys 938
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC23IP Gene

Antibody Products

No data available for DME Specific Peptides for SEC23IP Gene

Domains & Families for SEC23IP Gene

Gene Families for SEC23IP Gene

Protein Domains for SEC23IP Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Contains 1 DDHD domain.
  • Belongs to the PA-PLA1 family.
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:0004620 phospholipase activity IBA --
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
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
cytosol 5
golgi apparatus 4
endoplasmic reticulum 3
nucleus 3

Gene Ontology (GO) - Cellular Components for SEC23IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm TAS 10400679
GO:0005783 endoplasmic reticulum IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment TAS 10400679
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC23IP: view

Pathways & Interactions for SEC23IP Gene

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

Gene Ontology (GO) - Biological Process for SEC23IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport TAS 10400679
GO:0006888 ER to Golgi vesicle-mediated transport IBA --
GO:0007030 Golgi organization TAS 10400679
GO:0048208 COPII vesicle coating TAS --
genes like me logo Genes that share ontologies with SEC23IP: view

No data available for SIGNOR curated interactions for SEC23IP Gene

Drugs & Compounds for SEC23IP Gene

(2) Drugs for SEC23IP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SEC23IP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA Products

Clone 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

Protein differential expression in normal tissues from HIPED for SEC23IP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2), Lymph node (7.3), and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEC23IP Gene



Protein tissue co-expression partners for SEC23IP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC23IP Gene:

SEC23IP

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 expression patterns with SEC23IP: view

Primer 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
cow
(Bos Taurus)
Mammalia SEC23IP 34
  • 90.37 (n)
  • 90.7 (a)
SEC23IP 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEC23IP 34
  • 90.66 (n)
  • 91.69 (a)
SEC23IP 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sec23ip 34
  • 84.1 (n)
  • 85.74 (a)
Sec23ip 16
Sec23ip 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEC23IP 34
  • 99.23 (n)
  • 98.9 (a)
SEC23IP 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sec23ip 34
  • 84.52 (n)
  • 87.06 (a)
oppossum
(Monodelphis domestica)
Mammalia SEC23IP 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC23IP 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC23IP 34
  • 74.28 (n)
  • 75.93 (a)
SEC23IP 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEC23IP 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec23ip 34
  • 64.78 (n)
  • 67.89 (a)
Str.2854 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.17454 34
zebrafish
(Danio rerio)
Actinopterygii sec23ip 34
  • 64.47 (n)
  • 67.09 (a)
sec23ip 35
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8552 35
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3376 35
  • 50 (a)
OneToMany
Species where no ortholog for SEC23IP was found in the sources mined by GeneCards:
  • 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

(1) 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
rs2475298 - 119,919,501(-) TTCTT(C/T)ATTTT nc-transcript-variant, reference, missense
rs3740569 -- 119,908,989(+) CTCTC(A/C)ATGTG intron-variant
rs3740570 -- 119,909,144(+) GGTGT(G/T)CAAAA intron-variant
rs3808958 -- 119,892,644(+) GGGAG(A/G)GGGCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs3808959 -- 119,892,668(+) CCGTA(A/G)TTTCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3401936 CNV insertion 20981092
esv3624716 CNV loss 21293372
nsv1046532 CNV gain 25217958

Variation tolerance for SEC23IP Gene

Residual Variation Intolerance Score: 7.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEC23IP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC23IP

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

Disorders for SEC23IP Gene

Relevant External Links for SEC23IP

Genetic Association Database (GAD)
SEC23IP
Human Genome Epidemiology (HuGE) Navigator
SEC23IP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC23IP

No disorders were found for SEC23IP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 65
  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 65
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 65
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 65
  5. 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 65

Products for SEC23IP Gene

Sources for SEC23IP Gene

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