FLRT1 fibronectin leucine rich transmembrane protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLRT1provided by HGNC
Official Full Name: fibronectin leucine rich transmembrane protein 1provided by HGNC
Primary source: HGNC:HGNC:3760
See related: Ensembl:ENSG00000126500 MIM:604806; AllianceGenome:HGNC:3760
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: SPG68
Summary: This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 4.3), adrenal (RPKM 3.2) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (64035931..64119171)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (64025770..64109031)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (63803403..63886643)

Chromosome 11 - NC_000011.10 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?

the phosphorylation state of FLRT1, which is itself FGFR1 dependent, may play a critical role in the potentiation of FGFR1 signalling and may also depend on a SFK-dependent phosphorylation mechanism acting via the FGFR
Title: Critical role of FLRT1 phosphorylation in the interdependent regulation of FLRT1 function and FGF receptor signalling.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FLRT1__6736 (e-PCR)
- UniSTS:468419

STS-R38365 (e-PCR)
- UniSTS:1224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in fibroblast growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with focal adhesion	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: leucine-rich repeat transmembrane protein FLRT1

Names: fibronectin-like domain-containing leucine-rich transmembrane protein 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.

mRNA and Protein(s)

NM_001384466.1 → NP_001371395.1 leucine-rich repeat transmembrane protein FLRT1 isoform 1

Status: REVIEWED

Source sequence(s)

AP000721, AP006333

Consensus CDS

CCDS8057.1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1

Conserved Domains (4) summary

PRK15370
Location:58 → 329

PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP

TIGR00864
Location:300 → 406

PCC; polycystin cation channel protein

smart00060
Location:441 → 505

FN3; Fibronectin type 3 domain

sd00033
Location:108 → 128

LRR_RI; leucine-rich repeat [structural motif]
NM_001423967.1 → NP_001410896.1 leucine-rich repeat transmembrane protein FLRT1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) has the same exon combination as variant 1 and uses a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1

Source sequence(s)

AP000721, AP006333

Related

ENSP00000520551.1, ENST00000715990.1
NM_013280.5 → NP_037412.2 leucine-rich repeat transmembrane protein FLRT1 isoform 1

See identical proteins and their annotated locations for NP_037412.2

Status: REVIEWED

Source sequence(s)

AP000721, AP006333

Consensus CDS

CCDS8057.1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1

Related

ENSP00000507207.1, ENST00000682287.1

Conserved Domains (4) summary

PRK15370
Location:58 → 329

PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP

TIGR00864
Location:300 → 406

PCC; polycystin cation channel protein

smart00060
Location:441 → 505

FN3; Fibronectin type 3 domain

sd00033
Location:108 → 128

LRR_RI; leucine-rich repeat [structural motif]

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

64035931..64119171

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426696.1 → XP_047282652.1 leucine-rich repeat transmembrane protein FLRT1 isoform X1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1
XM_047426698.1 → XP_047282654.1 leucine-rich repeat transmembrane protein FLRT1 isoform X1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1
XM_047426699.1 → XP_047282655.1 leucine-rich repeat transmembrane protein FLRT1 isoform X1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1
XM_047426697.1 → XP_047282653.1 leucine-rich repeat transmembrane protein FLRT1 isoform X1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1

Related

ENSP00000246841.3, ENST00000246841.3

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

64025770..64109031

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368272.1 → XP_054224247.1 leucine-rich repeat transmembrane protein FLRT1 isoform X1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1
XM_054368271.1 → XP_054224246.1 leucine-rich repeat transmembrane protein FLRT1 isoform X1

UniProtKB/Swiss-Prot

A0A6E1VY70, Q8WVA2, Q9NZU1