KLHL4 (Xq21.31), DKELCHL, tämän proteiinin funktio ei ole määritetty

https://www.ncbi.nlm.nih.gov/gene/56062

Also known as

KHL4; DKELCHL

Summary

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Expression

Biased expression in adrenal (RPKM 14.7), testis (RPKM 4.7) and 4 other tissues See more

 

Conserved Domains (6) summary

smart00612
Location:571 → 617

Kelch; Kelch domain

PHA03098
Location:176 → 698

PHA03098; kelch-like protein; Provisional

sd00038
Location:466 → 509

Kelch; KELCH repeat [structural motif]

pfam00651
Location:172 → 276

BTB; BTB/POZ domain

pfam01344
Location:465 → 510

Kelch_1; Kelch motif

pfam07707
Location:284 → 373

BACK; BTB And C-terminal Kelch

 

1. Genomic imbalances associated with mullerian aplasia. Cheroki C, et al. J Med Genet, 2008 Apr. PMID 18039948
2. Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region. Braybrook C, et al. Genomics, 2001 Mar 1. PMID 11401425
3. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. Braybrook C, et al. Hum Genet, 2001 Jun. PMID 11499681
4. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
5. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970

See all (13) citations in PubMed