LTBP4 latent transforming growth factor beta binding protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LTBP4provided by HGNC
Official Full Name: latent transforming growth factor beta binding protein 4provided by HGNC
Primary source: HGNC:HGNC:6717
See related: Ensembl:ENSG00000090006 MIM:604710; AllianceGenome:HGNC:6717
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: ARCL1C; LTBP-4; LTBP4L; LTBP4S
Summary: The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Expression: Broad expression in prostate (RPKM 61.4), endometrium (RPKM 53.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40593166..40629820)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43413757..43450378)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41099072..41135725)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
Title: LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.
Title: Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.
Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.
Title: Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.
LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
Title: LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
Title: Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
Title: LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
Serum latent transforming growth factor-beta binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
Title: Serum latent transforming growth factor-β binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
Title: Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
an AMPK-LTBP4 axis in inflammatory macrophages controls the production of TGF-beta1, which is further activated by and acts on fibroblastic cells, leading to fibrosis in Duchenne muscular dystrophy.
Title: AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy.
DMD gene mutations involving the hinge 3 region, actin-binding domain, and exons 45-49, as well as the LTBP4 IAAM haplotype, were not associated with age of left ventricular dysfunction onset inDuchenne muscular dystrophy.
Title: DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MedGen: C2750804 OMIM: 613177 GeneReviews: LTBP4-Related Cutis Laxa	Compare labs

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

MARC_8055-8056:996688248:1 (e-PCR)
- UniSTS:269880

SHGC-111828 (e-PCR)
- UniSTS:168770

G29622 (e-PCR)
- UniSTS:10591

RH94117 (e-PCR)
- UniSTS:92267

RH102626 (e-PCR)
- UniSTS:96960

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables glycosaminoglycan binding	NAS Non-traceable Author Statement more info	PubMed
enables integrin binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell growth	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in microfibril	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: latent-transforming growth factor beta-binding protein 4

Names: latent transforming growth factor-beta binding protein 4L

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_021201.1 RefSeqGene

Range

5001..41655

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042544.1 → NP_001036009.1 latent-transforming growth factor beta-binding protein 4 isoform a precursor

See identical proteins and their annotated locations for NP_001036009.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AF051345, AK128191, BQ001109, Y13622

Consensus CDS

CCDS74369.1

UniProtKB/Swiss-Prot

O00508, O75412, O75413, Q8N2S1

Related

ENSP00000311905.8, ENST00000308370.11

Conserved Domains (5) summary

smart00179
Location:878 → 914

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:671 → 708

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 ...

pfam00683
Location:418 → 453

TB; TB domain

pfam07645
Location:752 → 792

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:567 → 590

cEGF; Complement Clr-like EGF-like
NM_001042545.2 → NP_001036010.1 latent-transforming growth factor beta-binding protein 4 isoform c precursor

See identical proteins and their annotated locations for NP_001036010.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC010412, AF051344, AK128191, BQ001109, Y13622

Consensus CDS

CCDS74370.1

UniProtKB/Swiss-Prot

Q8N2S1

UniProtKB/TrEMBL

B3KXY6

Related

ENSP00000380031.5, ENST00000396819.8

Conserved Domains (5) summary

smart00179
Location:811 → 847

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:604 → 641

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 ...

pfam00683
Location:351 → 386

TB; TB domain

pfam07645
Location:685 → 725

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:500 → 523

cEGF; Complement Clr-like EGF-like
NM_003573.2 → NP_003564.2 latent-transforming growth factor beta-binding protein 4 isoform b

See identical proteins and their annotated locations for NP_003564.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AF051345, AK128191, BQ001109, Y13622

Consensus CDS

CCDS74368.1

UniProtKB/TrEMBL

A0A0C4DH07

Related

ENSP00000204005.10, ENST00000204005.13

Conserved Domains (5) summary

smart00179
Location:841 → 877

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:634 → 671

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 ...

pfam00683
Location:381 → 416

TB; TB domain

pfam07645
Location:715 → 755

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:530 → 553

cEGF; Complement Clr-like EGF-like