Aliases for SESTD1 Gene

Aliases for SESTD1 Gene

  • SEC14 And Spectrin Domain Containing 1 2 3 5
  • SEC14 Domain And Spectrin Repeat-Containing Protein 1 3 4
  • Huntingtin-Interacting Protein-Like Protein 3 4
  • SEC14 And Spectrin Domains 1 2 3
  • Protein Solo 3 4
  • SOLO 3 4
  • DKFZp434O0515 2
  • SESTD1 5
  • Solo 2

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. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylserine binding. An important paralog of this gene is MCF2L.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SESTD1 Gene

Genomics for SESTD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SESTD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J179262 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.3 +0.9 931 3.8 SSRP1 ZMYM3 CEBPA POLR2A CHD4 REST CEBPB ZNF341 HOMEZ SIN3A SESTD1 HSALNG0020732 CCDC141
GH02J179237 Enhancer 1.2 Ensembl ENCODE dbSUPER 19 +25.1 25070 5.3 SSRP1 JUND CEBPA ATF3 CHD4 FEZF1 HOMEZ CTCF THAP11 MAFF HSALNG0020732 SESTD1 TTN CCDC141
GH02J179180 Enhancer 0.9 FANTOM5 Ensembl ENCODE 17.3 +83.8 83832 2 ZNF623 SOX5 TFAP4 ZNF652 SP1 HNF1A SOX13 CHD2 KDM1A SESTD1 RF00017-3047 HSALNG0020731 CCDC141
GH02J179234 Enhancer 0.7 ENCODE 18.9 +29.1 29104 0.9 ZNF600 ATF2 CEBPA HOMEZ KAT7 JUND PRDM6 ZNF652 ZBTB21 JUN SESTD1 HE855990 HSALNG0020732 CCDC141
GH02J178892 Enhancer 1 Ensembl ENCODE dbSUPER 10.8 +373.0 372989 1.1 ZNF654 ZMYM3 REST CTCF ZNF592 TRIM22 RAD21 SMC3 ZNF316 NFE2 SESTD1 CCDC141 LOC105373766 HSALNG0020728 TTN ENSG00000287149
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SESTD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SESTD1

Top Transcription factor binding sites by QIAGEN in the SESTD1 gene promoter:
  • AML1a
  • AREB6
  • FOXO3
  • FOXO3a
  • FOXO3b
  • FOXO4
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU2F1c

Genomic Locations for SESTD1 Gene

Latest Assembly
chr2:179,101,678-179,264,832
(GRCh38/hg38)
Size:
163,155 bases
Orientation:
Minus strand

Previous Assembly
chr2:179,966,405-180,129,559
(GRCh37/hg19 by Entrez Gene)
Size:
163,155 bases
Orientation:
Minus strand

chr2:179,966,419-180,129,517
(GRCh37/hg19 by Ensembl)
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.
    SequenceCaution:
    • Sequence=BAB71618.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Called SOLO because the encoded protein is related to but shorter than DUO and TRIO.

neXtProt entry for SESTD1 Gene

Post-translational modifications for SESTD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SESTD1 Gene

Domains & Families for SESTD1 Gene

Gene Families for SESTD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SESTD1 Gene

InterPro:
Blocks:
  • Spectrin repeat

Suggested Antigen Peptide Sequences for SESTD1 Gene

GenScript: Design optimal peptide antigens:
  • SESTD1 protein (Q7Z6D3_HUMAN)
  • Protein Solo (SESD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86VW0

UniProtKB/Swiss-Prot:

SESD1_HUMAN :
  • Belongs to the SOLO family.
Family:
  • Belongs to the SOLO family.
genes like me logo Genes that share domains with SESTD1: view

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.

Phenotypes From GWAS Catalog for SESTD1 Gene

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:0005545 NOT 1-phosphatidylinositol binding IDA 20164195
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 20164195
GO:0010314 phosphatidylinositol-5-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:

miRNA for SESTD1 Gene

miRTarBase miRNAs that target SESTD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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 SESTD1 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SESTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034704 colocalizes_with calcium channel complex IPI 20164195
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with SESTD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SESTD1 Gene

Pathways & Interactions for SESTD1 Gene

PathCards logo

SuperPathways for SESTD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SESTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1904878 negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IMP 20164195
genes like me logo Genes that share ontologies with SESTD1: view

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

mRNA/cDNA for SESTD1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SESTD1

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

No ASD Table

Relevant External Links for SESTD1 Gene

GeneLoc Exon Structure for
SESTD1

Expression for SESTD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SESTD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SESTD1

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.

Evidence on tissue expression from TISSUES for SESTD1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with SESTD1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia SESTD1 29 30
  • 99.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SESTD1 30
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 79 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SESTD1 29 30
  • 95.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SESTD1 29 30
  • 94.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sestd1 29 16 30
  • 88.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sestd1 29
  • 88.79 (n)
Chicken
(Gallus gallus)
Aves SESTD1 29 30
  • 85.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SESTD1 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sestd1 29
  • 77.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii sestd1 29 30
  • 71.9 (n)
OneToOne
sol 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007560 29
  • 41.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG15822 29 30
  • 39.44 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_F55D12.2 29
  • 42.82 (n)
F55D12.2 30
  • 20 (a)
OneToOne
Species where no ortholog for SESTD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SESTD1: view image
Alliance of Genome Resources:
Additional Orthologs for SESTD1

Paralogs for SESTD1 Gene

(5) SIMAP similar genes for SESTD1 Gene using alignment to 9 proteins:

  • SESD1_HUMAN
  • C9J4X8_HUMAN
  • C9JHW6_HUMAN
  • F8WFB2_HUMAN
  • H0Y774_HUMAN
  • H7BXT9_HUMAN
  • H7BZR8_HUMAN
  • L8EBH0_HUMAN
  • Q7Z6D3_HUMAN
genes like me logo Genes that share paralogs with SESTD1: view

Variants for SESTD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SESTD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs147276383 Benign: not provided 179,121,862(-) G/C
NM_178123.5(SESTD1):c.1350C>G (p.Ser450=)
SYNONYMOUS
rs182480080 Likely Benign: not provided 179,112,717(-) C/T
NM_178123.5(SESTD1):c.1961+7G>A
INTRON
rs76833045 Benign: not provided 179,116,713(-) C/T
NM_178123.5(SESTD1):c.1602G>A (p.Thr534=)
SYNONYMOUS
rs1047994 -- p.Val563Ala
rs17854501 -- p.Tyr49Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SESTD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv104n73 CNV deletion 24416366
dgv680n67 CNV gain 20364138
dgv7188n54 CNV loss 21841781
dgv7189n54 CNV loss 21841781
dgv7190n54 CNV loss 21841781
dgv7191n54 CNV loss 21841781
dgv7192n54 CNV loss 21841781
dgv7193n54 CNV loss 21841781
dgv7194n54 CNV loss 21841781
dgv7195n54 CNV loss 21841781
dgv7196n54 CNV loss 21841781
dgv7197n54 CNV loss 21841781
dgv7198n54 CNV loss 21841781
dgv7199n54 CNV loss 21841781
dgv7200n54 CNV loss 21841781
dgv7201n54 CNV loss 21841781
dgv7202n54 CNV gain 21841781
esv1009677 CNV loss 20482838
esv2422030 CNV deletion 20811451
esv2427556 CNV loss 19546169
esv2513814 CNV deletion 19546169
esv25523 CNV gain+loss 19812545
esv2671077 CNV deletion 23128226
esv2721197 CNV deletion 23290073
esv3163790 CNV deletion 24192839
esv3560613 CNV deletion 23714750
esv3584198 CNV loss 25503493
esv3593502 CNV loss 21293372
esv989936 CNV deletion 20482838
nsv1072997 CNV deletion 25765185
nsv1160887 OTHER complex 26073780
nsv3060 CNV deletion 18451855
nsv3061 CNV deletion 18451855
nsv436303 CNV deletion 17901297
nsv442840 CNV loss 18776908
nsv498948 CNV loss 21111241
nsv508185 CNV deletion 20534489
nsv511167 CNV loss 21212237
nsv511828 CNV loss 21212237
nsv514104 CNV loss 21397061
nsv583794 CNV loss 21841781
nsv583812 CNV loss 21841781
nsv583840 CNV gain 21841781
nsv583848 CNV loss 21841781
nsv583864 CNV gain+loss 21841781
nsv583865 CNV loss 21841781
nsv820056 CNV gain 19587683
nsv820485 CNV deletion 20802225
nsv821830 CNV loss 20364138
nsv834471 CNV gain 17160897
nsv834472 CNV loss 17160897
nsv954438 CNV duplication 24416366

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)

Additional Variant Information for SESTD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SESTD1
Leiden Open Variation Database (LOVD)
SESTD1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SESTD1 Gene

Additional Disease Information for SESTD1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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. The phospholipid-binding protein SESTD1 is a novel regulator of the transient receptor potential channels TRPC4 and TRPC5. (PMID: 20164195) Miehe S … Strübing C (The Journal of biological chemistry 2010) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 40
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for SESTD1 Gene

Sources for SESTD1 Gene