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KITLG KIT ligand [ Homo sapiens (human) ]

Gene ID: 4254, updated on 19-Jul-2014
Official Symbol
KITLGprovided by HGNC
Official Full Name
KIT ligandprovided by HGNC
Primary source
HGNC:6343
See related
HPRD:01698; MIM:184745
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SF; MGF; SCF; FPH2; KL-1; Kitl; SHEP7
Summary
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
See KITLG in Epigenomics, MapViewer
Location:
12q22
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (88492793..88580473, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88886570..88974250, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928541 Neighboring gene uncharacterized LOC101929554 Neighboring gene microtubule-associated protein 1 light chain 3 beta pseudogene Neighboring gene uncharacterized LOC728084

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hyperpigmentation, familial progressive, 2
MedGen: C1840392 OMIM: 145250 GeneReviews: Not available
not available
Skin/hair/eye pigmentation, variation in, 7
MedGen: C2674081 OMIM: 611664 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association study of testicular germ cell tumor.
NHGRI GWA Catalog
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
NHGRI GWA Catalog
Genetic determinants of hair, eye and skin pigmentation in Europeans.
NHGRI GWA Catalog
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686F2250

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
stem cell factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis IDA
Inferred from Direct Assay
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of mast cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
 
positive regulation of DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mast cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myeloid leukocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
kit ligand
Names
kit ligand
c-Kit ligand
steel factor
stem cell factor
mast cell growth factor
familial progressive hyperpigmentation 2
NP_000890.1
NP_003985.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012098.1 

    Range
    4989..92669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000899.4NP_000890.1  kit ligand isoform b precursor

    See proteins identical to NP_000890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) encodes the longer isoform (b) which contains the primary proteolytic-cleavage site; as a result, isoform b is largely a soluble product.
    Source sequence(s)
    AC024941, AK025245, BC126166, DC320486
    Consensus CDS
    CCDS31868.1
    UniProtKB/Swiss-Prot
    P21583
    Conserved Domains (1) summary
    pfam02404
    Location:1273
    Blast Score: 1326
    SCF; Stem cell factor
  2. NM_003994.5NP_003985.2  kit ligand isoform a precursor

    See proteins identical to NP_003985.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) lacks an alternate in-frame exon, compared to variant b. Isoform a lacks the primary proteolytic-cleavage site; as a result, the protein encoded by isoform a is largely a membrane bound product.
    Source sequence(s)
    AC024941, AK025245, BC143899, DC320486
    Consensus CDS
    CCDS31867.1
    UniProtKB/Swiss-Prot
    P21583
    Conserved Domains (1) summary
    pfam02404
    Location:1245
    Blast Score: 1193
    SCF; Stem cell factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    88492793..88580473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    85953228..86040884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    88851652..88939322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)