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

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: mouse all
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Genomic context

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_000001.11 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?

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.
Title: Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.
TIE1 promotes cervical cancer progression via Basigin-matrix metalloproteinase axis.
Title: TIE1 promotes cervical cancer progression via Basigin-matrix metalloproteinase axis.
Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
Title: Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
Title: Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
FLI1 regulates radiotherapy resistance in nasopharyngeal carcinoma through TIE1-mediated PI3K/AKT signaling pathway.
Title: FLI1 regulates radiotherapy resistance in nasopharyngeal carcinoma through TIE1-mediated PI3K/AKT signaling pathway.
A novel cis-regulatory variant modulating TIE1 expression associated with attention deficit hyperactivity disorder in Han Chinese children.
Title: A novel cis-regulatory variant modulating TIE1 expression associated with attention deficit hyperactivity disorder in Han Chinese children.
Involvement of small extracellular vesicle-derived TIE-1 in the chemoresistance of ovarian cancer cells.
Title: Involvement of small extracellular vesicle-derived TIE-1 in the chemoresistance of ovarian cancer cells.
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.
Title: TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.
Results found deregulated expression of TIE1 in non-small cell lung cancer (NSCLC) tissues to be associated with poor clinical outcome.
Title: Metabolic gene NR4A1 as a potential therapeutic target for non-smoking female non-small cell lung cancer patients.
Study in metastatic breast cancer patients treated with a taxane-bevacizumab combination chemotherapy revealed that overall and progression-free survival was significantly shorter in patients with a high baseline Tie1 level demonstrating the prognostic value of baseline Tie1 plasma concentration in patients with metastatic breast cancer.
Title: High baseline Tie1 level predicts poor survival in metastatic breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83260 (e-PCR)
- UniSTS:101143

SHGC-11974 (e-PCR)
- UniSTS:9496

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH70264 (e-PCR)
- UniSTS:26677

RH70854 (e-PCR)
- UniSTS:49732

WI-12355 (e-PCR)
- UniSTS:83024

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

RH124050 (e-PCR)
- UniSTS:134545

SHGC-105070 (e-PCR)
- UniSTS:169137

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in branching involved in lymph vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lymphatic endothelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesoderm development	TAS Traceable Author Statement more info	PubMed
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane fusion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of endothelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in tissue remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tyrosine-protein kinase receptor Tie-1

Names: tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1

NP_001240286.1

EC 2.7.10.1

NP_005415.1

EC 2.7.10.1

XP_005271220.1

EC 2.7.10.1

XP_016857696.1

EC 2.7.10.1

XP_047285299.1

EC 2.7.10.1

XP_047285310.1

EC 2.7.10.1

XP_054194526.1

EC 2.7.10.1

XP_054194527.1

EC 2.7.10.1

XP_054194528.1

EC 2.7.10.1

XP_054194529.1

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_030673.1 RefSeqGene

Range

5088..27214

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001253357.2 → NP_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:794 → 1062

TyrKc; Tyrosine kinase, catalytic domain

cd00054
Location:182 → 211

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:599 → 691

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:791 → 1087

PTKc_Tie1; Catalytic domain of the Protein Tyrosine Kinase, Tie1

pfam00041
Location:503 → 587

fn3; Fibronectin type III domain

pfam00047
Location:84 → 165

ig; Immunoglobulin domain

pfam07974
Location:270 → 299

EGF_2; EGF-like domain
NM_005424.5 → NP_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:839 → 1107

TyrKc; Tyrosine kinase, catalytic domain

cd00054
Location:227 → 256

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:644 → 736

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:836 → 1132

PTKc_Tie1; Catalytic domain of the Protein Tyrosine Kinase, Tie1

pfam00041
Location:548 → 632

fn3; Fibronectin type III domain

pfam00047
Location:129 → 210

ig; Immunoglobulin domain

pfam07974
Location:315 → 344

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

43300982..43323108

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (6) summary

smart00219
Location:796 → 1064

TyrKc; Tyrosine kinase, catalytic domain

cd00055
Location:227 → 265

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:601 → 693

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:793 → 1089

PTKc_Tie1; Catalytic domain of the Protein Tyrosine Kinase, Tie1

pfam00041
Location:505 → 589

fn3; Fibronectin type III domain

pfam00047
Location:129 → 210

ig; Immunoglobulin domain
XM_047429343.1 → XP_047285299.1 tyrosine-protein kinase receptor Tie-1 isoform X2
XM_017002207.3 → XP_016857696.1 tyrosine-protein kinase receptor Tie-1 isoform X3

UniProtKB/TrEMBL

B5A952

Conserved Domains (6) summary

smart00410
Location:369 → 443

IG_like; Immunoglobulin like

cd00054
Location:227 → 256

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:644 → 736

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:548 → 632

fn3; Fibronectin type III domain

pfam00047
Location:129 → 210

ig; Immunoglobulin domain

pfam07974
Location:315 → 344

EGF_2; EGF-like domain
XM_047429354.1 → XP_047285310.1 tyrosine-protein kinase receptor Tie-1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

43171478..43193657

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338551.1 → XP_054194526.1 tyrosine-protein kinase receptor Tie-1 isoform X1
XM_054338552.1 → XP_054194527.1 tyrosine-protein kinase receptor Tie-1 isoform X2
XM_054338553.1 → XP_054194528.1 tyrosine-protein kinase receptor Tie-1 isoform X3
XM_054338554.1 → XP_054194529.1 tyrosine-protein kinase receptor Tie-1 isoform X4