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

Summary

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

Location:: 10p12.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (21513475..21525682, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (21532596..21544814, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (21802404..21814611, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

Homology

Homologs of the SKIDA1 gene: The SKIDA1 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 449 organisms have orthologs with human gene SKIDA1
Orthologs

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)

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, Q8N3C3

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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

21513475..21525682 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q8N3C3
XM_047425205.1 → XP_047281161.1 SKI/DACH domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

Q8N3C3