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Aliases for SESTD1 Gene

Aliases for SESTD1 Gene

  • SEC14 And Spectrin Domain Containing 1 2 3 5
  • Huntingtin-Interacting Protein-Like Protein 3 4
  • SEC14 And Spectrin Domains 1 2 3
  • Protein SOLO 3 4
  • SOLO 3 4

External Ids for SESTD1 Gene

Previous GeneCards Identifiers for SESTD1 Gene

  • GC00U991235
  • GC02M180176
  • GC02M179799
  • GC02M179681
  • GC02M179966
  • GC02M171835

Summaries for SESTD1 Gene

GeneCards Summary for SESTD1 Gene

SESTD1 (SEC14 And Spectrin Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylserine binding.

UniProtKB/Swiss-Prot for SESTD1 Gene

  • May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1.

Gene Wiki entry for SESTD1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SESTD1 Gene

Genomics for SESTD1 Gene

Regulatory Elements for SESTD1 Gene

Promoters for SESTD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SESTD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SESTD1 Gene

Chromosome:
2
Start:
179,101,692 bp from pter
End:
179,264,790 bp from pter
Size:
163,099 bases
Orientation:
Minus strand

Genomic View for SESTD1 Gene

Genes around SESTD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SESTD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SESTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SESTD1 Gene

Proteins for SESTD1 Gene

  • Protein details for SESTD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VW0-SESD1_HUMAN
    Recommended name:
    SEC14 domain and spectrin repeat-containing protein 1
    Protein Accession:
    Q86VW0
    Secondary Accessions:
    • Q53R38
    • Q53SP3
    • Q5GM69
    • Q8N6M1
    • Q96LQ2

    Protein attributes for SESTD1 Gene

    Size:
    696 amino acids
    Molecular mass:
    79348 Da
    Quaternary structure:
    • Interacts (via the spectrin 1 repeat) with TRPC4 and TRPC5 (via CIRB domain). Interacts with CTNNB1.
    Miscellaneous:
    • Called SOLO because the encoded protein is related to but shorter than DUO and TRIO.
    SequenceCaution:
    • Sequence=BAB71618.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SESTD1 Gene

Proteomics data for SESTD1 Gene at MOPED

Post-translational modifications for SESTD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SESTD1 Gene

No data available for DME Specific Peptides for SESTD1 Gene

Domains & Families for SESTD1 Gene

Protein Domains for SESTD1 Gene

Suggested Antigen Peptide Sequences for SESTD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86VW0

UniProtKB/Swiss-Prot:

SESD1_HUMAN :
  • Contains 1 CRAL-TRIO domain.
  • Belongs to the SOLO family.
  • Contains 3 spectrin repeats.
Domain:
  • Contains 1 CRAL-TRIO domain.
Family:
  • Belongs to the SOLO family.
Similarity:
  • Contains 3 spectrin repeats.
genes like me logo Genes that share domains with SESTD1: view

No data available for Gene Families for SESTD1 Gene

Function for SESTD1 Gene

Molecular function for SESTD1 Gene

UniProtKB/Swiss-Prot Function:
May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1.

Gene Ontology (GO) - Molecular Function for SESTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 NOT phosphatidylserine binding IDA 20164195
GO:0005515 protein binding IPI 20164195
GO:0010314 phosphatidylinositol-5-phosphate binding IDA 20164195
GO:0031210 NOT phosphatidylcholine binding IDA 20164195
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 20164195
genes like me logo Genes that share ontologies with SESTD1: view
genes like me logo Genes that share phenotypes with SESTD1: view

Animal Models for SESTD1 Gene

MGI Knock Outs for SESTD1:

Animal Model Products

CRISPR Products

miRNA for SESTD1 Gene

miRTarBase miRNAs that target SESTD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SESTD1 Gene

Localization for SESTD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SESTD1 Gene COMPARTMENTS Subcellular localization image for SESTD1 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SESTD1 Gene

Pathways & Interactions for SESTD1 Gene

SuperPathways for SESTD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SESTD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SESTD1 Gene

Drugs & Compounds for SESTD1 Gene

No Compound Related Data Available

Transcripts for SESTD1 Gene

Unigene Clusters for SESTD1 Gene

SEC14 and spectrin domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SESTD1 Gene

No ASD Table

Relevant External Links for SESTD1 Gene

GeneLoc Exon Structure for
SESTD1
ECgene alternative splicing isoforms for
SESTD1

Expression for SESTD1 Gene

mRNA expression in normal human tissues for SESTD1 Gene

Protein differential expression in normal tissues from HIPED for SESTD1 Gene

This gene is overexpressed in Bone (15.9), Fetal Brain (15.7), Frontal cortex (9.8), and Bone marrow stromal cell (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SESTD1 Gene



SOURCE GeneReport for Unigene cluster for SESTD1 Gene Hs.30977

mRNA Expression by UniProt/SwissProt for SESTD1 Gene

Q86VW0-SESD1_HUMAN
Tissue specificity: Broad expression. High expression in thalamus and brain. Significantly expressed in vasculature.
genes like me logo Genes that share expression patterns with SESTD1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SESTD1 Gene

Orthologs for SESTD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SESTD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SESTD1 35
  • 94.64 (n)
  • 98.99 (a)
SESTD1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SESTD1 35
  • 95.11 (n)
  • 99.43 (a)
SESTD1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sestd1 35
  • 88.79 (n)
  • 98.28 (a)
Sestd1 16
Sestd1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SESTD1 35
  • 99.76 (n)
  • 99.86 (a)
SESTD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sestd1 35
  • 88.79 (n)
  • 98.56 (a)
oppossum
(Monodelphis domestica)
Mammalia SESTD1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
chicken
(Gallus gallus)
Aves SESTD1 35
  • 85.73 (n)
  • 95.4 (a)
SESTD1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SESTD1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sestd1 35
  • 77.68 (n)
  • 91.09 (a)
zebrafish
(Danio rerio)
Actinopterygii sestd1 35
  • 71.9 (n)
  • 85.04 (a)
sol 35
sestd1 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007560 35
  • 41.24 (n)
  • 26.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15822 35
  • 39.44 (n)
  • 26.67 (a)
CG15822 36
  • 13 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F55D12.2 35
  • 42.82 (n)
  • 28.11 (a)
F55D12.2 36
  • 20 (a)
OneToOne
Species with no ortholog for SESTD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SESTD1 Gene

ENSEMBL:
Gene Tree for SESTD1 (if available)
TreeFam:
Gene Tree for SESTD1 (if available)

Paralogs for SESTD1 Gene

genes like me logo Genes that share paralogs with SESTD1: view

No data available for Paralogs for SESTD1 Gene

Variants for SESTD1 Gene

Sequence variations from dbSNP and Humsavar for SESTD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs17854501 - 179,183,098(+) GTAGG(A/T)AGTCT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1047994 - 179,115,216(-) CACAG(A/C/T)TGTGT reference, missense
rs2847 -- 179,105,327(+) ACACC(C/T)TGTCA utr-variant-3-prime
rs189324 -- 179,211,559(-) ttttc(C/T)ccatt intron-variant
rs191472 -- 179,169,640(+) GAATC(A/C)CCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SESTD1 Gene

Variant ID Type Subtype PubMed ID
dgv4372n71 CNV Loss 21882294
dgv4374n71 CNV Loss 21882294
esv2513814 CNV Deletion 19546169
nsv834471 CNV Gain 17160897
nsv3060 CNV Loss 18451855
esv2721197 CNV Deletion 23290073
nsv511167 CNV Loss 21212237
nsv3061 CNV Loss 18451855
nsv820056 CNV Gain 19587683
esv25523 CNV Gain+Loss 19812545
nsv821830 CNV Loss 20364138
esv2427556 CNV Loss 19546169
esv989936 CNV Deletion 20482838
nsv820485 CNV Deletion 20802225
nsv511828 CNV Loss 21212237
nsv436303 CNV Deletion 17901297
esv2671077 CNV Deletion 23128226
nsv498948 CNV Loss 21111241
esv2422030 CNV Deletion 20811451
nsv442840 CNV CNV 18776908
dgv680n67 CNV Gain 20364138
esv1009677 CNV Loss 20482838
nsv514104 CNV Loss 21397061
nsv508185 CNV Loss 20534489
nsv834472 CNV Loss 17160897

Variation tolerance for SESTD1 Gene

Residual Variation Intolerance Score: 8.19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SESTD1 Gene

HapMap Linkage Disequilibrium report
SESTD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SESTD1 Gene

Disorders for SESTD1 Gene

Relevant External Links for SESTD1

Genetic Association Database (GAD)
SESTD1
Human Genome Epidemiology (HuGE) Navigator
SESTD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SESTD1

No disorders were found for SESTD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SESTD1 Gene

Publications for SESTD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Representational difference analysis, high-resolution physical mapping, and transcript identification of the zebrafish genomic region for a motor behavior. (PMID: 12837271) Sato T. … Mishina M. (Genomics 2003) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for SESTD1 Gene

Sources for SESTD1 Gene

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