KLHDC10 kelch domain containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHDC10provided by HGNC
Official Full Name: kelch domain containing 10provided by HGNC
Primary source: HGNC:HGNC:22194
See related: Ensembl:ENSG00000128607 MIM:615152
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: slim
Expression: Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (130070532..130135705)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (129710374..129775545)

Chromosome 7 - NC_000007.14 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?

Suggest that Slim/KLHDC10 is an activator of ASK1, contributing to oxidative stress-induced cell death through the suppression of PP5.
Title: The Kelch repeat protein KLHDC10 regulates oxidative stress-induced ASK1 activation by suppressing PP5.

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

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

RH36601 (e-PCR)
- UniSTS:25859

SHGC-30776 (e-PCR)
- UniSTS:8342

STS-H67652 (e-PCR)
- UniSTS:51109

RH67951 (e-PCR)
- UniSTS:49324

G62136 (e-PCR)
- UniSTS:139203

SGC35002 (e-PCR)
- UniSTS:19182

A006N09 (e-PCR)
- UniSTS:41968

Homology

Homologs of the KLHDC10 gene: The KLHDC10 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 411 organisms have orthologs with human gene KLHDC10
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of stress-activated MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: kelch domain-containing protein 10

Names: PNAS-119; scruin like at the midline homolog

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_014997.4 → NP_055812.1 kelch domain-containing protein 10

See identical proteins and their annotated locations for NP_055812.1

Status: VALIDATED

Source sequence(s)

AC087071, BC036464, BC044884, D87454

Consensus CDS

CCDS5815.1

UniProtKB/Swiss-Prot

Q6PID8

Related

ENSP00000334140.4, ENST00000335420.10

Conserved Domains (4) summary

PLN02153
Location:139 → 302

PLN02153; epithiospecifier protein

PRK14131
Location:88 → 171

PRK14131; N-acetylneuraminate epimerase

sd00038
Location:208 → 256

Kelch; KELCH repeat [structural motif]

pfam01344
Location:315 → 361

Kelch_1; Kelch motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

130070532..130135705

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250233.5 → XP_005250290.1 kelch domain-containing protein 10 isoform X1

See identical proteins and their annotated locations for XP_005250290.1

Conserved Domains (4) summary

PLN02153
Location:110 → 273

PLN02153; epithiospecifier protein

PRK14131
Location:59 → 142

PRK14131; N-acetylneuraminate epimerase

sd00038
Location:179 → 227

Kelch; KELCH repeat [structural motif]

pfam01344
Location:286 → 332

Kelch_1; Kelch motif