10qD1. View the map and BAC clones (data from UCSC genome browser).
Kitl (NM_013598): 10 exons, 84,588 bp, chr10:99445512-99530099
The figure below shows the structure of the Kitl gene (data from UCSC genome browser).
Search the 5'UTR and 1kb upstream regions (seq1=mouse Kitl, seq2=human KITLG) by CONREAL with 80% Position Weight Matrices (PWMs) threshold (view results here).
|Protein||NP_000890 (273 aa)||XP_509255 (273 aa)||NP_001012753 (274 aa)||NP_068615 (273 aa)||NP_990461 (287 aa)|
|Identities||226/273 (82%)||226/273 (82%)||221/274 (80%)||261/273 (95%)||151/287 (52%)|
(1) Domains predicted by SMART:
(2) Transmembrane domains predicted by SOSUI:
This amino acid sequence is of a MEMBRANE PROTEIN which have 2 transmembrane helices.
|No.||N terminal||transmembrane region||C terminal||type||length|
(3) Graphic view of InterPro domain structure.
(1) Predicted results by ScanProsite:
Site : 90 to 93 NISE.
Site : 97 to 100 NYSI.
Site : 145 to 148 NRSI.
Site : 195 to 198 NDSS.
b) cAMP- and cGMP-dependent protein kinase phosphorylation site:
Site : 239 to 242 KKQS.
c) Protein kinase C phosphorylation site:
Site : 126 to 128 SPK.
Site : 192 to 194 SLR.
Site : 200 to 202 SNR.
d) Casein kinase II phosphorylation site:
Site : 83 to 86 TLLD.
Site : 99 to 102 SIID.
Site : 136 to 139 TPEE.
e) N-myristoylation site:
Site : 30 to 35 GNPVTD.
Site : 212 to 217 GLQWTA.
(2) Predicted results of subprograms by PSORT II:
a) Seems to have no N-terminal signal peptide
b) Tentative number of TMS(s) for the threshold 0.5: 2
Number of TMS(s) for threshold 0.5: 1
INTEGRAL Likelihood = -5.89 Transmembrane 219 - 235
PERIPHERAL Likelihood = 4.61 (at 99)
ALOM score: -5.89 (number of TMSs: 1)
c) KDEL ER retention motif in C-terminus: none
d) ER membrane retention signals: none
e) VAC possible vacuolar targeting motif: none
f) Actinin-type actin-binding motif: type 1: none; type 2: none
g) Prenylation motif: none
h) memYQRL transport motif from cell surface to Golgi: none
i) Tyrosines in the tail: none
j) Dileucine motif in the tail: none
ModBase predicted 3D structure of P20826 from UCSC Gene Sorter:
From left to right: Front, Top, and Side views of predicted protein.
This protein does not exist in the current release of SWISS-2DPAGE.
Computed theoretical MW=30,645.3Da, pI=5.28.
(1) Biological process: hemopoiesis, epithelial cell proliferation, neural crest cell migration, signal transduction, cell adhesion.
(2) Growth factor activity.
(3) Receptor binding.
(4) Regulation of pigmentation during development.
Plasma membrane, cytoplasm, extracellular space.
This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis.
View interactions in HPRD
View co-occured partners in literature searched by PPI Finder.
Stimulates the proliferation of mast cells. Able to augment the proliferation of both myeloid and lymphoid hematopoietic progenitors in bone marrow culture. Mediates also cell-cell adhesion. Acts synergistically with other cytokines, probably interleukins.
SNPs deposited in dbSNP Build 128.
Among the reported 48 phenotypic alleles, 18 are spontaneous and 13 are chemically induced.
(Numbering of cDNA sequence is based on the start codon of RefSeq NM_013598. view ORF here.)
Intracellular transport of Kitl to the cell surface is driven by a motif in the cytoplasmic tail that acts independently of the previously described basolateral sorting signal. Transport of Kitl to the cell surface is controlled at the level of the endoplasmic reticulum (ER) and requires a C-terminal valine residue positioned at a distance of 19-36 amino acids from the border between the transmembrane and cytoplasmic domains. Deletion or substitution of the valine with other hydrophobic amino acids results in ER accumulation and reduced cell surface transport of Kitl at physiological expression levels (Paulhe et al.).
Mutations in this gene affect migration of embryonic stem cells and cause similar phenotypes to mutations in its receptor gene (Kit). Mutants show mild to severe defects in pigmentation, hemopoiesis and reproduction. The Sl allele arose spontaneously in the C57BL/6J strain. The strain is described in more detail in JAX Mice database (C57BL/6J-KitlSl-20J/J).