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Aliases for SEC16A Gene

Aliases for SEC16A Gene

  • SEC16 Homolog A, Endoplasmic Reticulum Export Factor 2 3 5
  • KIAA0310 2 3 4
  • SEC16L 3 4
  • Protein Transport Protein Sec16A 3
  • SEC16 Homolog A (S. Cerevisiae) 2
  • Protein SEC16 Homolog A 3
  • SEC16 Homolog A 4
  • SEC16 4
  • P250 3

External Ids for SEC16A Gene

Previous HGNC Symbols for SEC16A Gene

  • KIAA0310

Previous GeneCards Identifiers for SEC16A Gene

  • GC09M138455
  • GC09M139334
  • GC09M108793

Summaries for SEC16A Gene

Entrez Gene Summary for SEC16A Gene

  • This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]

GeneCards Summary for SEC16A Gene

SEC16A (SEC16 Homolog A, Endoplasmic Reticulum Export Factor) is a Protein Coding gene. Diseases associated with SEC16A include Charcot-Marie-Tooth Disease, Type 2E. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. An important paralog of this gene is SEC16B.

UniProtKB/Swiss-Prot for SEC16A Gene

  • Defines endoplasmic reticulum exit sites (ERES) and is required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for normal transitional endoplasmic reticulum (tER) organization.

Gene Wiki entry for SEC16A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC16A Gene

Genomics for SEC16A Gene

Regulatory Elements for SEC16A Gene

Enhancers for SEC16A 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
GH09G136481 1.4 ENCODE dbSUPER 26.6 +0.9 872 4.6 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 INPP5E SEC16A SNAPC4 C9orf163
GH09G136537 2 FANTOM5 Ensembl ENCODE dbSUPER 18.1 -58.7 -58737 10.7 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 NALT1 SEC16A NOTCH1 C9orf163 INPP5E FUT7 NACC2 CARD9 ABCA2 ENSG00000227512
GH09G136642 2 FANTOM5 Ensembl ENCODE dbSUPER 14.9 -160.5 -160541 5.8 HDGF PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B EGFL7 AGPAT2 FAM69B SEC16A C9orf163 MAN1B1 ARRDC1-AS1 NOTCH1 UAP1L1 CARD9
GH09G136437 0.9 ENCODE 29.9 +45.3 45328 3.3 HDGF AGO1 SIN3A GLIS2 ZNF143 KLF7 DEK SP3 GLIS1 MXD3 SEC16A SNAPC4 SDCCAG3 PMPCA INPP5E GC09P136426
GH09G136408 1.1 ENCODE 23 +74.1 74097 3.6 HDGF MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 INPP5E DNLZ SEC16A SNAPC4 SNHG7 GPSM1 CARD9 ANAPC2 PIR36061 GC09M136410
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEC16A on UCSC Golden Path with GeneCards custom track

Promoters for SEC16A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243018 1449 2201 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for SEC16A Gene

Chromosome:
9
Start:
136,440,096 bp from pter
End:
136,484,549 bp from pter
Size:
44,454 bases
Orientation:
Minus strand

Genomic View for SEC16A Gene

Genes around SEC16A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC16A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC16A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC16A Gene

Proteins for SEC16A Gene

  • Protein details for SEC16A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15027-SC16A_HUMAN
    Recommended name:
    Protein transport protein Sec16A
    Protein Accession:
    O15027
    Secondary Accessions:
    • A1YCA4
    • Q4G0D7
    • Q5SXP0
    • Q5SXP1
    • Q8N347
    • Q96HP1

    Protein attributes for SEC16A Gene

    Size:
    2179 amino acids
    Molecular mass:
    233517 Da
    Quaternary structure:
    • SEC16A and SEC16B are each present in multiple copies in a heteromeric complex. Interacts with SEC23A.
    SequenceCaution:
    • Sequence=BAA20769.4; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI13949.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13951.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SEC16A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC16A Gene

Post-translational modifications for SEC16A Gene

  • Ubiquitination at Lys1135
  • Glycosylation at isoforms=2, 3, 4, 51980
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC16A Gene

Domains & Families for SEC16A Gene

Protein Domains for SEC16A Gene

Graphical View of Domain Structure for InterPro Entry

O15027

UniProtKB/Swiss-Prot:

SC16A_HUMAN :
  • Belongs to the SEC16 family.
Family:
  • Belongs to the SEC16 family.
genes like me logo Genes that share domains with SEC16A: view

No data available for Gene Families for SEC16A Gene

Function for SEC16A Gene

Molecular function for SEC16A Gene

UniProtKB/Swiss-Prot Function:
Defines endoplasmic reticulum exit sites (ERES) and is required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for normal transitional endoplasmic reticulum (tER) organization.

Gene Ontology (GO) - Molecular Function for SEC16A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25201882
genes like me logo Genes that share ontologies with SEC16A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC16A Gene

Localization for SEC16A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC16A Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Note=SAR1A activity is required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation.

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 SEC16A gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
nucleus 3

Gene Ontology (GO) - Cellular Components for SEC16A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC16A: view

Pathways & Interactions for SEC16A Gene

genes like me logo Genes that share pathways with SEC16A: view

SIGNOR curated interactions for SEC16A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SEC16A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007029 endoplasmic reticulum organization IDA 21768384
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0021762 substantia nigra development IEP 22926577
genes like me logo Genes that share ontologies with SEC16A: view

Drugs & Compounds for SEC16A Gene

(1) Drugs for SEC16A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SEC16A: view

Transcripts for SEC16A Gene

Unigene Clusters for SEC16A Gene

SEC16 homolog A (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEC16A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^
SP1: - -
SP2: - -
SP3: - -
SP4: - - - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b · 29c · 29d ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - -
SP6: - - - - - - - -
SP7: - - - - - - - -
SP8: - - -
SP9: - - - - -
SP10: - - - -
SP11: - - - - -
SP12: - - - - - - -
SP13: -
SP14: - - - - - -
SP15: - - -
SP16: -
SP17: -
SP18:
SP19:

ExUns: 34c · 34d · 34e · 34f · 34g
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for SEC16A Gene

GeneLoc Exon Structure for
SEC16A
ECgene alternative splicing isoforms for
SEC16A

Expression for SEC16A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEC16A Gene

Protein differential expression in normal tissues from HIPED for SEC16A Gene

This gene is overexpressed in Bone (14.6), Bone marrow stromal cell (13.1), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEC16A Gene



Protein tissue co-expression partners for SEC16A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC16A Gene:

SEC16A

SOURCE GeneReport for Unigene cluster for SEC16A Gene:

Hs.522500

mRNA Expression by UniProt/SwissProt for SEC16A Gene:

O15027-SC16A_HUMAN
Tissue specificity: Ubiquitous. Expressed at higher levels in the pancreas.

Evidence on tissue expression from TISSUES for SEC16A Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Liver(4.4)
  • Pancreas(2.6)
  • Intestine(2)
genes like me logo Genes that share expression patterns with SEC16A: 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 SEC16A Gene

Orthologs for SEC16A Gene

This gene was present in the common ancestor of animals.

Orthologs for SEC16A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEC16A 34
  • 98.02 (n)
dog
(Canis familiaris)
Mammalia SEC16A 34 35
  • 77.45 (n)
mouse
(Mus musculus)
Mammalia Sec16a 34 16 35
  • 76.08 (n)
rat
(Rattus norvegicus)
Mammalia Sec16a 34
  • 75.73 (n)
cow
(Bos Taurus)
Mammalia SEC16A 34 35
  • 74.34 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC16A 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC16A 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC16A 34 35
  • 61.94 (n)
lizard
(Anolis carolinensis)
Reptilia SEC16A 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec16a 34
  • 52.42 (n)
Str.20474 34
zebrafish
(Danio rerio)
Actinopterygii LOC567075 34
  • 52.98 (n)
SEC16A 35
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sec16 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-16 35
  • 17 (a)
ManyToMany
F13B9.1 35
  • 15 (a)
ManyToMany
Species where no ortholog for SEC16A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for SEC16A Gene

ENSEMBL:
Gene Tree for SEC16A (if available)
TreeFam:
Gene Tree for SEC16A (if available)

Paralogs for SEC16A Gene

Paralogs for SEC16A Gene

genes like me logo Genes that share paralogs with SEC16A: view

Variants for SEC16A Gene

Sequence variations from dbSNP and Humsavar for SEC16A Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs562519905 Uncertain significance 136,439,658(+) GCCTG(C/G)GGGAA nc-transcript-variant, downstream-variant-500B, utr-variant-5-prime
rs886063714 Uncertain significance 136,439,690(-) AACCT(C/T)CCCCG nc-transcript-variant, downstream-variant-500B, utr-variant-5-prime
rs886063715 Uncertain significance 136,439,762(-) CGGAG(C/T)CTGCG nc-transcript-variant, downstream-variant-500B, utr-variant-5-prime
rs886063716 Uncertain significance 136,439,766(-) ACTTC(A/G)GAGTC nc-transcript-variant, downstream-variant-500B, utr-variant-5-prime
rs1000008267 -- 136,443,038(+) GAGAC(C/T)CGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEC16A Gene

Variant ID Type Subtype PubMed ID
esv2759720 CNV loss 17122850
esv30005 CNV loss 17803354
esv3622008 CNV gain 21293372
nsv1161916 CNV deletion 26073780
nsv469918 CNV loss 18288195
nsv509333 CNV insertion 20534489
nsv615963 CNV loss 21841781
nsv6766 CNV insertion 18451855
nsv825173 CNV gain 20364138
nsv831760 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for SEC16A Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.91; 83.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEC16A Gene

Human Gene Mutation Database (HGMD)
SEC16A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC16A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC16A Gene

Disorders for SEC16A Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEC16A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2e
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEC16A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC16A
genes like me logo Genes that share disorders with SEC16A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC16A Gene

Publications for SEC16A Gene

  1. Two mammalian Sec16 homologues have nonredundant functions in endoplasmic reticulum (ER) export and transitional ER organization. (PMID: 17192411) Bhattacharyya D. … Glick B.S. (Mol. Biol. Cell 2007) 2 3 4 64
  2. Sec16A defines the site for vesicle budding from the endoplasmic reticulum on exit from mitosis. (PMID: 21045114) Hughes H. … Stephens D.J. (J. Cell. Sci. 2010) 2 3 64
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. Sec16 defines endoplasmic reticulum exit sites and is required for secretory cargo export in mammalian cells. (PMID: 17005010) Watson P. … Stephens D.J. (Traffic 2006) 3 4 64

Products for SEC16A Gene

Sources for SEC16A Gene

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