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SESTD1 SEC14 and spectrin domain containing 1 [ Homo sapiens (human) ]

Gene ID: 91404, updated on 3-Nov-2024

Summary

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Official Symbol
SESTD1provided by HGNC
Official Full Name
SEC14 and spectrin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:18379
See related
Ensembl:ENSG00000187231 AllianceGenome:HGNC:18379
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SOLO
Summary
Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Involved in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Located in calcium channel complex and intermediate filament cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 11.0), lung (RPKM 7.2) and 24 other tissues See more
Orthologs
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Genomic context

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See SESTD1 in Genome Data Viewer
Location:
2q31.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (179101678..179264832, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179584873..179748044, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179966405..180129559, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373766 Neighboring gene coiled-coil domain containing 141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16817 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179922464-179923068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:179931204-179931704 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56698 Neighboring gene ribosomal protein S6 pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56700 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16819 Neighboring gene MPRA-validated peak3949 silencer Neighboring gene MPRA-validated peak3950 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56707 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56714 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56717 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56718 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56719 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56720 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:180060941-180061440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12153 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:180128689-180128852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16820 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:180132793-180133294 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:180133295-180133798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16821 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:180142211-180142711 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:180208678-180209877 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:180293959-180294459 Neighboring gene Sharpr-MPRA regulatory region 1228 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:180324663-180325862 Neighboring gene RAD52 pseudogene 1 Neighboring gene zinc finger protein 385B Neighboring gene uncharacterized LOC101927073

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Solo, a RhoA-targeting guanine nucleotide exchange factor, is critical for hemidesmosome formation and acinar development in epithelial cells. Fujiwara S, et al. PLoS One, 2018. PMID 29672603, Free PMC Article
  2. Representational difference analysis, high-resolution physical mapping, and transcript identification of the zebrafish genomic region for a motor behavior. Sato T, et al. Genomics, 2003 Aug. PMID 12837271
  3. Interplay between Solo and keratin filaments is crucial for mechanical force-induced stress fiber reinforcement. Fujiwara S, et al. Mol Biol Cell, 2016 Mar 15. PMID 26823019, Free PMC Article
  4. Human MicroRNA miR-532-5p Exhibits Antiviral Activity against West Nile Virus via Suppression of Host Genes SESTD1 and TAB3 Required for Virus Replication. Slonchak A, et al. J Virol, 2015 Dec 16. PMID 26676784, Free PMC Article
  5. The phospholipid-binding protein SESTD1 is a novel regulator of the transient receptor potential channels TRPC4 and TRPC5. Miehe S, et al. J Biol Chem, 2010 Apr 16. PMID 20164195, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Solo plays a crucial role in HD formation and acinar development in epithelial cells by regulating mechanical force-induced RhoA activation and keratin filament organization.
    Title: Solo, a RhoA-targeting guanine nucleotide exchange factor, is critical for hemidesmosome formation and acinar development in epithelial cells.
  2. The interplay between Solo protein and keratin 8/keratin 18 filaments plays a crucial role in tensile force-induced RhoA activation and consequent actin cytoskeletal reinforcement in endothelial cells.
    Title: Interplay between Solo and keratin filaments is crucial for mechanical force-induced stress fiber reinforcement.
  3. Upregulation of miR-532-5p and subsequent suppression of the SESTD1 and TAB3 genes represent an antiviral response aimed at limiting West Nile virus infection.
    Title: Human MicroRNA miR-532-5p Exhibits Antiviral Activity against West Nile Virus via Suppression of Host Genes SESTD1 and TAB3 Required for Virus Replication.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. SESTD1 was found to associate with TRPC4 and TRPC5 via the channel's calmodulin- and inositol 1,4,5-trisphosphate receptor-binding domain.
    Title: The phospholipid-binding protein SESTD1 is a novel regulator of the transient receptor potential channels TRPC4 and TRPC5.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of antiphospholipid antibodies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of SEC14 and spectrin domains 1 (SESTD1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp434O0515

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables 1-phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidic acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3,4-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,4-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-5-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-5-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables phosphatidylserine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of calcium channel complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
SEC14 domain and spectrin repeat-containing protein 1
Names
SEC14 and spectrin domains 1
huntingtin-interacting protein-like protein
protein Solo

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_178123.5 → NP_835224.3  SEC14 domain and spectrin repeat-containing protein 1

    See identical proteins and their annotated locations for NP_835224.3

    Status: VALIDATED

    Source sequence(s)
    AC016755, AC093911, AK096232, AY209190, BC047578
    Consensus CDS
    CCDS33338.1
    UniProtKB/Swiss-Prot
    Q53R38, Q53SP3, Q5GM69, Q86VW0, Q8N6M1, Q96LQ2
    UniProtKB/TrEMBL
    B3KTX3
    Related
    ENSP00000415332.2, ENST00000428443.8
    Conserved Domains (2) summary
    pfam13716
    Location:33 → 153
    CRAL_TRIO_2; Divergent CRAL/TRIO domain
    cl02488
    Location:273 → 478
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    179101678..179264832 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446274.1 → XP_047302230.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X2

  2. XM_047446273.1 → XP_047302229.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X1

  3. XM_011512141.3 → XP_011510443.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B3KTX3
    Conserved Domains (2) summary
    pfam13716
    Location:1 → 71
    CRAL_TRIO_2; Divergent CRAL/TRIO domain
    cl02488
    Location:191 → 396
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  4. XM_047446275.1 → XP_047302231.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X4

RNA

  1. XR_007084411.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    179584873..179748044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344478.1 → XP_054200453.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X2

  2. XM_054344477.1 → XP_054200452.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X1

  3. XM_054344479.1 → XP_054200454.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X3

  4. XM_054344480.1 → XP_054200455.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X4

RNA

  1. XR_008486600.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86VW0.2 GenPept UniProtKB/Swiss-Prot:Q86VW0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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