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TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 [ Homo sapiens (human) ]

Gene ID: 7075, updated on 4-Jan-2025

Summary

Official Symbol
TIE1provided by HGNC
Official Full Name
tyrosine kinase with immunoglobulin like and EGF like domains 1provided by HGNC
Primary source
HGNC:HGNC:11809
See related
Ensembl:ENSG00000066056 MIM:600222; AllianceGenome:HGNC:11809
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
TIE; JTK14; LMPHM11
Summary
This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Broad expression in placenta (RPKM 23.3), fat (RPKM 19.2) and 21 other tissues See more
Orthologs
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Genomic context

See TIE1 in Genome Data Viewer
Location:
1p34.2
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43300982..43323108)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43171478..43193657)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43766653..43788779)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43735285-43735788 Neighboring gene transmembrane protein 125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751233-43751791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751792-43752349 Neighboring gene chromosome 1 open reading frame 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 915 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43813871-43814842 Neighboring gene MPL proto-oncogene, thrombopoietin receptor Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43814843-43815813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43823421-43823929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 916 Neighboring gene CDC20 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lymphatic malformation 11
MedGen: C5543614 OMIM: 619401 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables GPI-linked ephrin receptor activity  
enables boss receptor activity  
enables brain-derived neurotrophic factor receptor activity  
enables epidermal growth factor receptor activity  
enables fibroblast growth factor receptor activity  
enables hepatocyte growth factor receptor activity  
enables histone H2AXY142 kinase activity  
enables histone H3Y41 kinase activity  
enables insulin receptor activity  
enables insulin-like growth factor receptor activity  
enables macrophage colony-stimulating factor receptor activity  
enables placental growth factor receptor activity  
enables platelet-derived growth factor alpha-receptor activity  
enables platelet-derived growth factor beta-receptor activity  
enables protein binding PubMed 
enables protein tyrosine kinase collagen receptor activity  
enables stem cell factor receptor activity  
enables transmembrane receptor protein tyrosine kinase activity  
enables transmembrane-ephrin receptor activity  
enables vascular endothelial growth factor receptor activity  
Items 1 - 25 of 33
Process Evidence Code Pubs
involved_in Kit signaling pathway  
involved_in angiogenesis  
involved_in aortic valve morphogenesis  
involved_in brain-derived neurotrophic factor receptor signaling pathway  
involved_in branching involved in lymph vessel morphogenesis  
involved_in cell surface receptor protein tyrosine kinase signaling pathway  
involved_in chromatin remodeling  
involved_in collagen-activated tyrosine kinase receptor signaling pathway  
involved_in ephrin receptor signaling pathway  
involved_in epidermal growth factor receptor signaling pathway  
involved_in fibroblast growth factor receptor signaling pathway  
involved_in hepatocyte growth factor receptor signaling pathway  
involved_in in utero embryonic development  
involved_in insulin receptor signaling pathway  
involved_in insulin-like growth factor receptor signaling pathway  
acts_upstream_of_or_within lymphatic endothelial cell differentiation  
involved_in macrophage colony-stimulating factor signaling pathway  
involved_in mesoderm development PubMed 
involved_in multicellular organism development  
involved_in negative regulation of angiogenesis  
involved_in negative regulation of cell migration  
involved_in plasma membrane fusion  
involved_in platelet-derived growth factor receptor-alpha signaling pathway  
involved_in platelet-derived growth factor receptor-beta signaling pathway  
involved_in positive regulation of angiogenesis  
acts_upstream_of_or_within regulation of endothelial cell proliferation  
acts_upstream_of regulation of extracellular matrix assembly  
involved_in response to retinoic acid  
involved_in signal transduction PubMed 
involved_in tissue remodeling  
involved_in vascular endothelial growth factor receptor-1 signaling pathway  
involved_in vascular endothelial growth factor signaling pathway  
involved_in vasculogenesis  
Items 1 - 25 of 33
Component Evidence Code Pubs
is_active_in plasma membrane  
part_of receptor complex  

General protein information

Preferred Names
tyrosine-protein kinase receptor Tie-1
Names
tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1
NP_001240286.1
NP_005415.1
XP_005271220.1
XP_016857696.1
XP_047285299.1
XP_047285310.1
XP_054194526.1
XP_054194527.1
XP_054194528.1
XP_054194529.1

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

  1. NG_030673.1 RefSeqGene

    Range
    5088..27214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253357.2NP_001240286.1  tyrosine-protein kinase receptor Tie-1 isoform 2

    See identical proteins and their annotated locations for NP_001240286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK300399, BM970991, DB287371, R13130
    UniProtKB/TrEMBL
    B4DTW8
    Conserved Domains (7) summary
    smart00219
    Location:7941062
    TyrKc; Tyrosine kinase, catalytic domain
    cd00054
    Location:182211
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00063
    Location:599691
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd05089
    Location:7911087
    PTKc_Tie1; Catalytic domain of the Protein Tyrosine Kinase, Tie1
    pfam00041
    Location:503587
    fn3; Fibronectin type III domain
    pfam00047
    Location:84165
    ig; Immunoglobulin domain
    pfam07974
    Location:270299
    EGF_2; EGF-like domain
  2. NM_005424.5NP_005415.1  tyrosine-protein kinase receptor Tie-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_005415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC038239, DB287371, R13130
    Consensus CDS
    CCDS482.1
    UniProtKB/Swiss-Prot
    B5A949, B5A950, P35590
    Related
    ENSP00000361554.3, ENST00000372476.8
    Conserved Domains (7) summary
    smart00219
    Location:8391107
    TyrKc; Tyrosine kinase, catalytic domain
    cd00054
    Location:227256
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00063
    Location:644736
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd05089
    Location:8361132
    PTKc_Tie1; Catalytic domain of the Protein Tyrosine Kinase, Tie1
    pfam00041
    Location:548632
    fn3; Fibronectin type III domain
    pfam00047
    Location:129210
    ig; Immunoglobulin domain
    pfam07974
    Location:315344
    EGF_2; EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43300982..43323108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271163.3XP_005271220.1  tyrosine-protein kinase receptor Tie-1 isoform X1

    Conserved Domains (6) summary
    smart00219
    Location:7961064
    TyrKc; Tyrosine kinase, catalytic domain
    cd00055
    Location:227265
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    cd00063
    Location:601693
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd05089
    Location:7931089
    PTKc_Tie1; Catalytic domain of the Protein Tyrosine Kinase, Tie1
    pfam00041
    Location:505589
    fn3; Fibronectin type III domain
    pfam00047
    Location:129210
    ig; Immunoglobulin domain
  2. XM_047429343.1XP_047285299.1  tyrosine-protein kinase receptor Tie-1 isoform X2

  3. XM_017002207.3XP_016857696.1  tyrosine-protein kinase receptor Tie-1 isoform X3

    UniProtKB/TrEMBL
    B5A952
    Conserved Domains (6) summary
    smart00410
    Location:369443
    IG_like; Immunoglobulin like
    cd00054
    Location:227256
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00063
    Location:644736
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:548632
    fn3; Fibronectin type III domain
    pfam00047
    Location:129210
    ig; Immunoglobulin domain
    pfam07974
    Location:315344
    EGF_2; EGF-like domain
  4. XM_047429354.1XP_047285310.1  tyrosine-protein kinase receptor Tie-1 isoform X4

    UniProtKB/TrEMBL
    B5A952

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    43171478..43193657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338551.1XP_054194526.1  tyrosine-protein kinase receptor Tie-1 isoform X1

  2. XM_054338552.1XP_054194527.1  tyrosine-protein kinase receptor Tie-1 isoform X2

  3. XM_054338553.1XP_054194528.1  tyrosine-protein kinase receptor Tie-1 isoform X3

    UniProtKB/TrEMBL
    B5A952
  4. XM_054338554.1XP_054194529.1  tyrosine-protein kinase receptor Tie-1 isoform X4

    UniProtKB/TrEMBL
    B5A952
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