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KLHDC1 kelch domain containing 1 [ Homo sapiens (human) ]

Gene ID: 122773, updated on 5-Aug-2022

Summary

Official Symbol
KLHDC1provided by HGNC
Official Full Name
kelch domain containing 1provided by HGNC
Primary source
HGNC:HGNC:19836
See related
Ensembl:ENSG00000197776 MIM:611281; AllianceGenome:HGNC:19836
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
MST025
Summary
Enables ubiquitin ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Is active in Cul5-RING ubiquitin ligase complex and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 2.8), thyroid (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

See KLHDC1 in Genome Data Viewer
Location:
14q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49693120..49753150)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43891165..43951525)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50159838..50219868)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene DNA polymerase epsilon 2, accessory subunit Neighboring gene RNA, U6atac small nuclear 30, pseudogene Neighboring gene serine/threonine kinase 16 pseudogene 1 Neighboring gene kelch domain containing 2 Neighboring gene nuclear export mediator factor Neighboring gene RNA, U6 small nuclear 539, pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126644, MGC126646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquitin ligase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of Cul5-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kelch domain-containing protein 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_172193.3NP_751943.1  kelch domain-containing protein 1

    See identical proteins and their annotated locations for NP_751943.1

    Status: VALIDATED

    Source sequence(s)
    AL591767
    Consensus CDS
    CCDS9692.1
    UniProtKB/Swiss-Prot
    Q8N7A1, Q8WYI1
    Related
    ENSP00000352282.2, ENST00000359332.7
    Conserved Domains (4) summary
    sd00038
    Location:1365
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:206256
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:247294
    Kelch_4; Galactose oxidase, central domain
    pfam13854
    Location:1354
    Kelch_5; Kelch motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49693120..49753150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536422.3XP_011534724.1  kelch domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    sd00038
    Location:197245
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:206256
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:247294
    Kelch_4; Galactose oxidase, central domain
    pfam13854
    Location:1354
    Kelch_5; Kelch motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43891165..43951525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)