O60662

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession KLH41_HUMAN; O60662;
Entrez ID 10324
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Kelch-like protein 41 (Kel-like protein 23) (Kelch repeat and BTB domain-containing protein 10) (Kelch-related protein 1) (Sarcosin)
Gene Name KLHL41; KBTBD10; KRP1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionInvolved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells.
Sequence
(Fasta)		MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI LSACSPYFRE 60
YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND GNVQDIFALA SRFQIPSVFT 120
VCVSYLQKRL APGNCLAILR LGLLLDCPRL AISAREFVSD RFVQICKEED FMQLSPQELI 180
SVISNDSLNV EKEEAVFEAV MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD 240
IIKSNPDLQK KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM 300
FVKDLILLVN DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV GGLYVDEENK 360
DQPLQSYFFQ LDSIASEWVG LPPLPSARCL FGLGEVDDKI YVVAGKDLQT EASLDSVLCY 420
DPVAAKWNEV KKLPIKVYGH NVISHKGMIY CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP 480
MKIPRSMFGV AVHKGKIVIA GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL 540
AGSLYAIGGF AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL 600
FKLSKL 607

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1UbiquitinationNemaline myopathyN24268659
[Reference]: These studies expand the genetic heterogeneity of NM and implicate a critical role of BTB-Kelch family members in maintenance of sarcomeric integrity in NM

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 1)		OMIM:615731 ; NEMALINE MYOPATHY 9
DisGeNet (Curated)
(count: 8)
(view all)		C0151786; Muscle Weakness
C0546125; Nemaline Myopathy, Childhood Onset
C1854301; Motor delay
C1861403; Variable expressivity
C1866862; Highly variable severity
C3810384; NEMALINE MYOPATHY 9

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 1)		 587       GMLKEIRYASGASCL     dbPAF
Ubiquitination
(count: 1)		 583       KEWAGMLKEIRYASG     PLMD
Glycation
(count: 3)		 31        KDLLDEKKFIDCTLK     PLMD
72        EIDEAKKKEVVLDNV     PLMD
89        AILDLIIKYLYSASI     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource