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

    Gene ID: 91404, updated on 17-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 MIM:621011; 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
    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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    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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