Details for: KLHL24

Gene ID: 54800

Symbol: KLHL24

Ensembl ID: ENSG00000114796

Description: kelch like family member 24

Associated with

Other Information

Genular Protein ID: 4620605

Symbol: KLH24_HUMAN

Name: Kelch-like protein 24

UniProtKB Accession Codes:

Q6TFL4 A5PLN8 Q9H620 Q9NXT9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 9 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 2 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 27889062

Title: Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

PubMed ID: 27889062

DOI: 10.1016/j.ajhg.2016.11.005

PubMed ID: 27798626

Title: Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

PubMed ID: 27798626

DOI: 10.1038/ng.3701

PubMed ID: 30715372

Title: Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

PubMed ID: 30715372

DOI: 10.1093/hmg/ddz032

Sequence Information:

  • Length: 600
  • Mass: 68361
  • Checksum: 54538E2BF447A56B
  • Sequence:
    • MVLILGRRLN REDLGVRDSP ATKRKVFEMD PKSLTGHEFF DFSSGSSHAE NILQIFNEFR 
DSRLFTDVII CVEGKEFPCH RAVLSACSSY FRAMFCNDHR ESREMLVEIN GILAEAMECF 
LQYVYTGKVK ITTENVQYLF ETSSLFQISV LRDACAKFLE EQLDPCNCLG IQRFADTHSL 
KTLFTKCKNF ALQTFEDVSQ HEEFLELDKD ELIDYICSDE LVIGKEEMVF EAVMRWVYRA 
VDLRRPLLHE LLTHVRLPLL HPNYFVQTVE VDQLIQNSPE CYQLLHEARR YHILGNEMMS 
PRTRPRRSTG YSEVIVVVGG CERVGGFNLP YTECYDPVTG EWKSLAKLPE FTKSEYAVCA 
LRNDILVSGG RINSRDVWIY NSQLNIWIRV ASLNKGRWRH KMAVLLGKVY VVGGYDGQNR 
LSSVECYDSF SNRWTEVAPL KEAVSSPAVT SCVGKLFVIG GGPDDNTCSD KVQSYDPETN 
SWLLRAAIPI AKRCITAVSL NNLIYVAGGL TKAIYCYDPV EDYWMHVQNT FSRQENCGMS 
VCNGKIYILG GRRENGEATD TILCYDPATS IITGVAAMPR PVSYHGCVTI HRYNEKCFKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.