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

    Gene ID: 91404, updated on 27-Nov-2024

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_178123.5NP_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:33153
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
      cl02488
      Location:273478
      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_047446274.1XP_047302230.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X2

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

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

      UniProtKB/TrEMBL
      B3KTX3
      Conserved Domains (2) summary
      pfam13716
      Location:171
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
      cl02488
      Location:191396
      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_047446275.1XP_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_054344478.1XP_054200453.1  SEC14 domain and spectrin repeat-containing protein 1 isoform X2

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

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

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

    RNA

    1. XR_008486600.1 RNA Sequence