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

Gene ID: 387640, updated on 23-Nov-2021

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
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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (21510754..21525682, complement)
105.20201022 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 LOC105376445 Neighboring gene MIR1915 host gene Neighboring gene microRNA 1915 Neighboring gene MLLT10 histone lysine methyltransferase DOT1L cofactor 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
  • 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. 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
  3. A High-Density Map for Navigating the Human Polycomb Complexome. Hauri S, et al. Cell Rep, 2016 Oct 4. PMID 27705803
  4. 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
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (9) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

Associated conditions

Description Tests
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
GeneReviews: Not available

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

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
    Q1XH10
    UniProtKB/TrEMBL
    E9PAX1
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    21510754..21525682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519480.3 → XP_011517782.1  SKI/DACH domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011517782.1

    UniProtKB/TrEMBL
    E9PAX1
    Conserved Domains (2) summary
    pfam02437
    Location:10 → 95
    Ski_Sno; SKI/SNO/DAC family
    pfam15223
    Location:475 → 906
    DUF4584; Domain of unknown function (DUF4584)

  2. XM_005252450.4 → XP_005252507.1  SKI/DACH domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005252507.1

    UniProtKB/TrEMBL
    E9PAX1
    Conserved Domains (2) summary
    pfam02437
    Location:10 → 95
    Ski_Sno; SKI/SNO/DAC family
    pfam15223
    Location:475 → 906
    DUF4584; Domain of unknown function (DUF4584)

  3. XM_017016225.2 → XP_016871714.1  SKI/DACH domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PAX1
    Conserved Domains (2) summary
    pfam02437
    Location:10 → 95
    Ski_Sno; SKI/SNO/DAC family
    pfam15223
    Location:475 → 906
    DUF4584; Domain of unknown function (DUF4584)

  4. XM_017016226.2 → XP_016871715.1  SKI/DACH domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    E9PAX1
    Conserved Domains (2) summary
    pfam02437
    Location:10 → 95
    Ski_Sno; SKI/SNO/DAC family
    pfam15223
    Location:475 → 906
    DUF4584; Domain of unknown function (DUF4584)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q1XH10.2 GenPept UniProtKB/Swiss-Prot:Q1XH10

Gene LinkOut

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