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    SKIDA1 SKI/DACH domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 387640, updated on 17-Sep-2024

    Summary

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    Official Symbol
    SKIDA1provided by HGNC
    Official Full Name
    SKI/DACH domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:32697
    See related
    Ensembl:ENSG00000180592 AllianceGenome:HGNC:32697
    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
    DLN-1; C10orf140
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SKIDA1 in Genome Data Viewer
    Location:
    10p12.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (21513475..21525682, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (21532596..21548235, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (21802404..21814611, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21783452-21784245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2188 Neighboring gene MIR1915 host gene Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21793394-21793626 Neighboring gene microRNA 1915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2189 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21814003-21814646 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21814647-21815290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2192 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21816390-21816548 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:21817867-21818510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21822730-21823443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21824159-21824871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21825135-21825648 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21840002-21840186 Neighboring gene MLLT10 histone lysine methyltransferase DOT1L cofactor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21844418-21845000 Neighboring gene RNA, U6 small nuclear 306, pseudogene Neighboring gene solute carrier family 4 member 8 pseudogene

    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. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Pharoah PD, et al. Nat Genet, 2013 Apr. PMID 23535730, Free PMC Article
    2. A GO catalogue of human DNA-binding transcription factors. Lovering RC, et al. Biochim Biophys Acta Gene Regul Mech, 2021 Nov-Dec. PMID 34673265
    3. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
    4. A High-Density Map for Navigating the Human Polycomb Complexome. Hauri S, et al. Cell Rep, 2016 Oct 4. PMID 27705803
    5. Molecular Characterization of the Oncogene BTF3 and Its Targets in Colorectal Cancer. Wang H, et al. Front Cell Dev Biol, 2020. PMID 33644029, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45187, DKFZp761J229

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SKI/DACH domain-containing protein 1
    Names
    protein DLN-1

    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_207371.4 → NP_997254.3  SKI/DACH domain-containing protein 1

      See identical proteins and their annotated locations for NP_997254.3

      Status: VALIDATED

      Source sequence(s)
      AK131456, AL358780, AL834446, BI497298, DB320086
      Consensus CDS
      CCDS44363.1
      UniProtKB/Swiss-Prot
      B1ANA5, E9PAX1, F5H7M0, Q1XH10, Q6ZMX4, Q8N3C3
      Related
      ENSP00000410041.2, ENST00000449193.7
      Conserved Domains (2) summary
      pfam02437
      Location:10 → 95
      Ski_Sno; SKI/SNO/DAC family
      pfam15223
      Location:475 → 906
      DUF4584; Domain of unknown function (DUF4584)

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      21513475..21525682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425204.1 → XP_047281160.1  SKI/DACH domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1ANA5, E9PAX1, F5H7M0, Q1XH10, Q6ZMX4, Q8N3C3

    2. XM_047425205.1 → XP_047281161.1  SKI/DACH domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B1ANA5, E9PAX1, F5H7M0, Q1XH10, Q6ZMX4, Q8N3C3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      21532596..21548235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365848.1 → XP_054221823.1  SKI/DACH domain-containing protein 1 isoform X2

    2. XM_054365851.1 → XP_054221826.1  SKI/DACH domain-containing protein 1 isoform X1

    3. XM_054365850.1 → XP_054221825.1  SKI/DACH domain-containing protein 1 isoform X1

    4. XM_054365849.1 → XP_054221824.1  SKI/DACH domain-containing protein 1 isoform X3

    5. XM_054365847.1 → XP_054221822.1  SKI/DACH domain-containing protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1XH10.2 GenPept UniProtKB/Swiss-Prot:Q1XH10

    Gene LinkOut

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

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