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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. Diseases associated with SEC23IP include Waardenburg's Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. 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

Additional gene information for SEC23IP Gene

No data available for CIViC summary , 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
GH10H119783 1.6 FANTOM5 Ensembl ENCODE 40.3 -107.1 -107091 4 FOXA2 ATF1 ARID4B FEZF1 DMAP1 GTF3C2 ZNF121 ATF7 RUNX3 ZNF202 SEC23IP RPL17P36 TIAL1 INPP5F RPL21P16 MCMBP TXNP1 RN7SL846P GC10M119816
GH10H119650 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31.3 -236.9 -236942 10 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 SEC23IP TIAL1 BAG3 INPP5F MCMBP GRK5 TXNP1
GH10H119313 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.8 -575.8 -575804 6 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1 SEC23IP TIAL1 MCMBP RPL17P36 LOC105378511 GC10P119246
GH10H119677 1.4 Ensembl ENCODE dbSUPER 32.9 -212.0 -212003 5 TBP KLF17 ZBTB7B GTF3C2 ZNF121 GLIS2 EGR1 SMARCC2 ZNF548 FOS TIAL1 SEC23IP MCMBP RPL17P36 INPP5F TXNP1 BAG3
GH10H119089 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.9 -801.6 -801631 3 PKNOX1 ATF1 ARNT BRCA1 TCF12 KLF7 ATF7 FOS RUNX3 SP3 SEC23IP TIAL1 ENSG00000222588 SNORA19 NANOS1 ENSG00000271343 GC10P119080
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000034352 227 2001 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

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 Lys477, Lys871, and isoforms=938
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC23IP Gene

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

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 :
  • Belongs to the PA-PLA1 family.
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).

Phenotypes From GWAS Catalog for SEC23IP Gene

Gene Ontology (GO) - Molecular Function for SEC23IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004620 phospholipase activity IBA --
GO:0005515 protein binding IPI 25416956
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

  • Applied Biological Materials Clones for SEC23IP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC23IP gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
golgi apparatus 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005794 Golgi apparatus IDA --
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

  • Applied Biological Materials Clones for SEC23IP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for SEC23IP Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Stomach(4.2)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia SEC23IP 33 34
  • 90.66 (n)
cow
(Bos Taurus)
Mammalia SEC23IP 33 34
  • 90.37 (n)
rat
(Rattus norvegicus)
Mammalia Sec23ip 33
  • 84.52 (n)
mouse
(Mus musculus)
Mammalia Sec23ip 33 16 34
  • 84.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC23IP 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC23IP 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC23IP 33 34
  • 74.28 (n)
lizard
(Anolis carolinensis)
Reptilia SEC23IP 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec23ip 33
  • 64.78 (n)
Str.2854 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.17454 33
zebrafish
(Danio rerio)
Actinopterygii sec23ip 33 34
  • 64.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8552 34
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3376 34
  • 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
rs1000126009 -- 119,911,250(+) CAGGT(A/T)ACTTG intron-variant
rs1000126570 -- 119,898,665(+) TTTTC(A/G/T)CCATC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs1000136264 -- 119,906,065(+) CAGCT(C/T)AGGAG intron-variant
rs1000157043 -- 119,910,988(+) CTAAC(-/CTT)TTTTT intron-variant
rs1000192398 -- 119,923,042(+) CTTTG(A/T)GTTCA intron-variant

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

Human Gene Mutation Database (HGMD)
SEC23IP
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

MalaCards: The human disease database

(1) MalaCards diseases for SEC23IP Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
waardenburg's syndrome
  • waardenburg syndrome, type 4a
- elite association - COSMIC cancer census association via MalaCards

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

No data available for 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 (The Journal of biological chemistry 2005) 3 4 22 60
  2. p125 is a novel mammalian Sec23p-interacting protein with structural similarity to phospholipid-modifying proteins. (PMID: 10400679) Tani K … Tagaya M (The Journal of biological chemistry 1999) 2 3 4 60
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for SEC23IP Gene

Sources for SEC23IP Gene

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