P21583

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession SCF_HUMAN; P21583;
Entrez ID 4254
GenBank Protein ID NM_000899.4; NM_003994.5;
GenBank Nucleotide ID NP_000890.1; NP_003985.2;
Protein Name Kit ligand (Mast cell growth factor) (MGF) (Stem cell factor) (SCF) (c-Kit ligand) [Cleaved into: Soluble KIT ligand (sKITLG)]
Gene Name KITLG; MGF; SCF
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionLigand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins.
Sequence
(Fasta)
MKKTQTWILT CIYLQLLLFN PLVKTEGICR NRVTNNVKDV TKLVANLPKD YMITLKYVPG 60
MDVLPSHCWI SEMVVQLSDS LTDLLDKFSN ISEGLSNYSI IDKLVNIVDD LVECVKENSS 120
KDLKKSFKSP EPRLFTPEEF FRIFNRSIDA FKDFVVASET SDCVVSSTLS PEKDSRVSVT 180
KPFMLPPVAA SSLRNDSSSS NRKAKNPPGD SSLHWAAMAL PALFSLIIGF AFGALYWKKR 240
QPSLTRAVEN IQINEEDNEI SMLQEKEREF QEV 274

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationCancer cachexia/Cachexia/Cachectic tumorA24280222
[Reference]: Phosphorylation and ubiquitylation regulate the GH receptor (GHR) at the cell surface: two ubiquitin ligases (SCF(TrCP2) and CHIP) determine the GH responsiveness of cells by controlling its endocytosis, whereas JAK2 initiates the JAK/STAT pathway. We used blue native electrophoresis to identify phosphorylated and ubiquitylated receptor intermediates

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 10)
(view all)
MESH:D002277 ; Carcinoma
OMIM:616697 ; DEAFNESS, AUTOSOMAL DOMINANT 69
MESH:D064420 ; Drug-Related Side Effects and Adverse Reactions
OMIM:145250 ; HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE
MESH:D015674 ; Mammary Neoplasms, Animal
MESH:D008325 ; Mammary Neoplasms, Experimental
DisGeNet (Curated)
(count: 23)
(view all)
C0018784; Sensorineural Hearing Loss (disorder)
C0024667; Animal Mammary Neoplasms
C0024668; Mammary Neoplasms, Experimental
C0027430; Nasal Polyps
C0027658; Neoplasms, Germ Cell and Embryonal
C0039590; Testicular Neoplasms
HGMD
(count: 1)
CM092889; Progressive hyperpigmentation; Missense/nonsense
GWASdb
(count: 31)
(view all)
rs995030; Testicular germ cell tumor; testicular germ cell cancer
rs995030; Testicular cancer; testicular cancer
rs995030; Nasopharyngeal carcinoma; nasopharynx carcinoma
rs995030; Testicular germ cell cancer; testicular germ cell cancer
rs11104911; Testicular germ cell cancer; testicular germ cell cancer
rs11104913; Multiple complex diseases; Null

※ PTM Sites

PTM Modification Sites
Ubiquitination
(count: 5)
116       DDLVECVKENSSKDL     PLMD
128       KDLKKSFKSPEPRLF     PLMD
152       NRSIDAFKDFVVASE     PLMD
181       DSRVSVTKPFMLPPV     PLMD
266       EISMLQEKEREFQEV     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource