KIT KIT proto-oncogene, receptor tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: KITprovided by HGNC
Official Full Name: KIT proto-oncogene, receptor tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:6342
See related: Ensembl:ENSG00000157404 MIM:164920; AllianceGenome:HGNC:6342
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: PBT; SCFR; C-Kit; CD117; MASTC
Summary: This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]
Expression: Broad expression in thyroid (RPKM 30.0), ovary (RPKM 23.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q12

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (54657957..54740715)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (58146698..58229411)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (55524124..55606881)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Stem cell factor and cKIT modulate endothelial glycolysis in hypoxia.
Title: Stem cell factor and cKIT modulate endothelial glycolysis in hypoxia.
Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.
Title: Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.
KIT ATP-Binding Pocket/Activation Loop Mutations in GI Stromal Tumor: Emerging Mechanisms of Kinase Inhibitor Escape.
Title: KIT ATP-Binding Pocket/Activation Loop Mutations in GI Stromal Tumor: Emerging Mechanisms of Kinase Inhibitor Escape.
Elevated c-kit expression in failed autologous arteriovenous fistulas in end-stage renal disease patients.
Title: Elevated c-kit expression in failed autologous arteriovenous fistulas in end-stage renal disease patients.
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.
Title: Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.
CREB Is Indispensable to KIT Function in Human Skin Mast Cells-A Positive Feedback Loop between CREB and KIT Orchestrates Skin Mast Cell Fate.
Title: CREB Is Indispensable to KIT Function in Human Skin Mast Cells-A Positive Feedback Loop between CREB and KIT Orchestrates Skin Mast Cell Fate.
Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma.
Title: Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma.
KIT genetic alterations in breast cancer.
Title: KIT genetic alterations in breast cancer.
KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies.
Title: KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies.
Golgi retention and oncogenic KIT signaling via PLCgamma2-PKD2-PI4KIIIbeta activation in gastrointestinal stromal tumor cells.
Title: Golgi retention and oncogenic KIT signaling via PLCγ2-PKD2-PI4KIIIβ activation in gastrointestinal stromal tumor cells.

Submit: New GeneRIF Correction See all GeneRIFs (1006)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs
Cutaneous mastocytosis MedGen: C1136033 OMIM: 154800 GeneReviews: Not available	Compare labs
Gastrointestinal stromal tumor MedGen: C0238198 OMIM: 606764 GeneReviews: Not available	Compare labs
Germ cell tumor of testis MedGen: C1336708 OMIM: 273300 GeneReviews: Not available	Compare labs
Piebaldism MedGen: C0080024 OMIM: 172800 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-05-08) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-05-08) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	The mechanism of HIV-1 induced apoptosis in astrocytes involves the upregulation of the receptor tyrosine kinase protooncogene c-Kit by the HIV-1 Nef protein	PubMed
Tat	tat	HIV-1 Tat downregulates the expression of v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT; CD117) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67781 (e-PCR)
- UniSTS:853

GDB:512789 (e-PCR)
- UniSTS:157531

STS-N21003 (e-PCR)
- UniSTS:21855

GDB:181531 (e-PCR)
- UniSTS:155257

SHGC-12679 (e-PCR)
- UniSTS:62849

SHGC4-128 (e-PCR)
- UniSTS:79238

GDB:250632 (e-PCR)
- UniSTS:156301

GDB:626073 (e-PCR)
- UniSTS:158385

SHGC-50170 (e-PCR)
- UniSTS:72370

GDB:626077 (e-PCR)
- UniSTS:158386

GDB:626080 (e-PCR)
- UniSTS:158387

Kit (e-PCR), detects polymorphism
- UniSTS:527042

G15879 (e-PCR)
- UniSTS:79825

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables SH2 domain binding	IEA Inferred from Electronic Annotation more info
enables cytokine binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables stem cell factor receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in Fc receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Kit signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Kit signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in digestive tract development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in embryonic hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in erythropoietin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in germ cell migration	IEA Inferred from Electronic Annotation more info
involved_in glycosphingolipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic progenitor cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in hematopoietic stem cell migration	IEA Inferred from Electronic Annotation more info
involved_in hemopoiesis	TAS Traceable Author Statement more info	PubMed
involved_in immature B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymphoid progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mast cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in mast cell degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mast cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mast cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in mast cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in megakaryocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanocyte adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanocyte differentiation	TAS Traceable Author Statement more info	PubMed
involved_in melanocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in myeloid progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in pigmentation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of colon smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendritic cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of long-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mast cell cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of pseudopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of pyloric antrum smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of small intestine smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bile acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell shape	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed
involved_in stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in stem cell population maintenance	TAS Traceable Author Statement more info	PubMed
involved_in tongue development	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: mast/stem cell growth factor receptor Kit

Names: c-Kit protooncogene; p145 c-kit; piebald trait protein; proto-oncogene c-Kit; proto-oncogene tyrosine-protein kinase Kit; tyrosine-protein kinase Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein

NP_000213.1

EC 2.7.10.1

NP_001087241.1

EC 2.7.10.1

NP_001372213.1

EC 2.7.10.1

NP_001372214.1

EC 2.7.10.1

NP_001372215.1

EC 2.7.10.1

NP_001372217.1

EC 2.7.10.1

NP_001372219.1

EC 2.7.10.1

NP_001372221.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_007456.1 RefSeqGene

Range

4935..87721

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_307

mRNA and Protein(s)

NM_000222.3 → NP_000213.1 mast/stem cell growth factor receptor Kit isoform 1 precursor

See identical proteins and their annotated locations for NP_000213.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 3, resulting in a shorter protein (isoform 1). Isoforms 1 and 7 have identical lengths but distinct sequences.

Source sequence(s)

BC071593, DC376760, X06182

Consensus CDS

CCDS3496.1

UniProtKB/Swiss-Prot

B5A956, D5LXN2, D5M931, F5H8F8, P10721, Q6IQ28, Q99662, Q9UM99

UniProtKB/TrEMBL

A0A8I5KPX7

Related

ENSP00000288135.6, ENST00000288135.6

Conserved Domains (6) summary

cd00096
Location:426 → 505

Ig; Immunoglobulin domain

cd05860
Location:311 → 411

Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

smart00410
Location:220 → 307

IG_like; Immunoglobulin like

cd05104
Location:553 → 928

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 305

ig; Immunoglobulin domain

pfam07714
Location:589 → 924

Pkinase_Tyr; Protein tyrosine kinase
NM_001093772.2 → NP_001087241.1 mast/stem cell growth factor receptor Kit isoform 2 precursor

See identical proteins and their annotated locations for NP_001087241.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 2). Isoforms 2 and 8 have identical lengths but distinct sequences.

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS47058.1

UniProtKB/TrEMBL

A0A8I5KPX7

Related

ENSP00000509450.1, ENST00000687295.1

Conserved Domains (6) summary

cd00096
Location:426 → 505

Ig; Immunoglobulin domain

cd05860
Location:311 → 411

Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

smart00410
Location:220 → 307

IG_like; Immunoglobulin like

cd05104
Location:549 → 924

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 305

ig; Immunoglobulin domain

pfam07714
Location:585 → 920

Pkinase_Tyr; Protein tyrosine kinase
NM_001385284.1 → NP_001372213.1 mast/stem cell growth factor receptor Kit isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS93529.1

UniProtKB/TrEMBL

A0A8I5KPX7, A0A8I5KS03

Related

ENSP00000509371.1, ENST00000687109.1

Conserved Domains (4) summary

cd05104
Location:554 → 929

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 306

ig; Immunoglobulin domain

cd00096
Location:427 → 503

Ig; Immunoglobulin domain

cd05860
Location:312 → 412

IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
NM_001385285.1 → NP_001372214.1 mast/stem cell growth factor receptor Kit isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 4).

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS93532.1

UniProtKB/TrEMBL

A0A8I5KPX7, A0A8I5QKL5

Related

ENSP00000508733.1, ENST00000692783.1

Conserved Domains (4) summary

cd05104
Location:553 → 927

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 305

ig; Immunoglobulin domain

cd00096
Location:426 → 502

Ig; Immunoglobulin domain

cd05860
Location:311 → 411

IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
NM_001385286.1 → NP_001372215.1 mast/stem cell growth factor receptor Kit isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 5).

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS93531.1

UniProtKB/TrEMBL

A0A0U2N547, A0A8I5KPX7

Related

ENSP00000509704.1, ENST00000686011.1

Conserved Domains (4) summary

cd05104
Location:549 → 923

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 305

ig; Immunoglobulin domain

cd00096
Location:426 → 502

Ig; Immunoglobulin domain

cd05860
Location:311 → 411

IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
NM_001385288.1 → NP_001372217.1 mast/stem cell growth factor receptor Kit isoform 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate in-frame splice site in the coding region, compared to variant 3, resulting in a shorter protein (isoform 6).

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS93527.1

UniProtKB/TrEMBL

A0A8I5KPX7, A0A8I5KQZ6

Related

ENSP00000508831.1, ENST00000690543.1

Conserved Domains (4) summary

cd05104
Location:550 → 925

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 306

ig; Immunoglobulin domain

cd00096
Location:427 → 503

Ig; Immunoglobulin domain

cd05860
Location:312 → 412

IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
NM_001385290.1 → NP_001372219.1 mast/stem cell growth factor receptor Kit isoform 7 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate in-frame splice site in the coding region, compared to variant 3, resulting in a shorter protein (isoform 7). Isoforms 1 and 7 have identical lengths but distinct sequences.

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS93530.1

UniProtKB/TrEMBL

A0A8I5KPX7, A0A8I5QKP7

Related

ENSP00000509084.1, ENST00000689832.1

Conserved Domains (4) summary

cd05104
Location:554 → 928

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 306

ig; Immunoglobulin domain

cd00096
Location:427 → 503

Ig; Immunoglobulin domain

cd05860
Location:312 → 412

IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
NM_001385292.1 → NP_001372221.1 mast/stem cell growth factor receptor Kit isoform 8 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 8). Isoforms 2 and 8 have identical lengths but distinct sequences.

Source sequence(s)

AC006552, AC092545

Consensus CDS

CCDS93528.1

UniProtKB/TrEMBL

A0A8I5KPX7, A0A8J8Z860

Related

ENSP00000390987.3, ENST00000412167.7

Conserved Domains (4) summary

cd05104
Location:550 → 924

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 306

ig; Immunoglobulin domain

cd00096
Location:427 → 503

Ig; Immunoglobulin domain

cd05860
Location:312 → 412

IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains