Ltbp1 MGI Mouse Gene Detail - MGI:109151 - latent transforming growth factor beta binding protein 1

Symbol

Ltbp1
Name

latent transforming growth factor beta binding protein 1
Synonyms

9430031G15Rik, b2b1000Clo, LTBP-1, Ltbp1L

Feature Type

protein coding gene
IDs

MGI:109151
NCBI Gene: 268977
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr17:75312563-75699507 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 46.24 cM, cytoband E3
Mapping Data

5 experiments

SNPs within 2kb

11733 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109151	protein coding gene	Chr17:75312475-75699507 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024033	protein coding gene	Chr17:77690011-78111091 (+)
A/J	MGP_AJ_G0023990	protein coding gene	Chr17:75276182-75668114 (+)
AKR/J	MGP_AKRJ_G0023959	protein coding gene	Chr17:76394738-76788631 (+)
BALB/cJ	MGP_BALBcJ_G0023992	protein coding gene	Chr17:75178078-75577069 (+)
C3H/HeJ	MGP_C3HHeJ_G0023756	protein coding gene	Chr17:77293875-77695447 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024437	protein coding gene	Chr17:80480081-80894001 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021881	protein coding gene	Chr17:70891616-71279850 (+)
CAST/EiJ	MGP_CASTEiJ_G0023236	protein coding gene	Chr17:77835064-78241229 (+)
CBA/J	MGP_CBAJ_G0023730	protein coding gene	Chr17:83828834-84282519 (+)
DBA/2J	MGP_DBA2J_G0023859	protein coding gene	Chr17:73853957-74244544 (+)
FVB/NJ	MGP_FVBNJ_G0023825	protein coding gene	Chr17:73379563-73775568 (+)
LP/J	MGP_LPJ_G0023942	protein coding gene	Chr17:78454437-78870953 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023853	protein coding gene	Chr17:83636401-84057101 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024481	protein coding gene	Chr17:76841695-77259373 (+)
PWK/PhJ	MGP_PWKPhJ_G0022982	protein coding gene	Chr17:73257201-73666766 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022793	protein coding gene	Chr17:73580156-74007545 (+)
WSB/EiJ	MGP_WSBEiJ_G0023303	protein coding gene	Chr17:77716306-78132787 (+)

Human Ortholog

LTBP1, latent transforming growth factor beta binding protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LTBP1, latent transforming growth factor beta binding protein 1
Synonyms

ARCL2E
Links

HGNC:6714

NCBI Gene ID: 4052

neXtProt AC: NX_Q14766

UniProt: Q14766
Chr Location

2p22.3; chr2:32946953-33399509 (+) GRCh38

MGI Vertebrate Homology

Ltbp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LTBP1
Protein SuperFamily

Fibrillin
Gene Tree

Ltbp1

Diseases

1 with human LTBP1 associations

				Human Disease	Mouse Models
				cutis laxa IDs cutis laxa DOID:3144 ICD10CM:Q82.8 MESH:D003483 NCI:C84663 OMIM:PS123700 ORDO:209 UMLS_CUI:C0010495

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

50 phenotypes from 6 alleles in 5 genetic backgrounds
15 images
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (ENU)

1
Endonuclease-mediated

3
Gene trapped

2
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

115 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract.

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All GO Annotations

30
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1205
Tissues

304
cDNA Data

67
Literature Summary

25

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA LTBP1

Xenbase ltbp1

ZFIN ltbp1

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All Sequences

121
RefSeq

30
UniProt

6
CCDS

CCDS28973.1, CCDS37694.1, CCDS84336.1

Ensembl

ENSMUSG00000001870 (Evidence)
NCBI Gene

268977

			Length	Strain/Species	Flank
genomic	ENSMUSG00000001870	Ensembl Gene Model \| MGI Sequence Detail	386945	C57BL/6J	± kb
transcript	ENSMUST00000234490	Ensembl \| MGI Sequence Detail	6235	Not Applicable
polypeptide	ENSMUSP00000157016	Ensembl \| MGI Sequence Detail	1713	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000000101 latent TGF-beta-binding protein 1

(term hierarchy)
InterPro Domains

IPR026823 Complement Clr-like EGF domain

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR013032 EGF-like, conserved site

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR050751 Extracellular matrix structural protein

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR049883 NOTCH1 EGF-like calcium-binding domain

IPR017878 TB domain

IPR036773 TGF-beta binding (TB) domain superfamily

IPR052080 von Willebrand factor C/EGF & Fibrillin
GlyGen

Q8CG19 15 sites, 2 N-linked glycans (3 sites)

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All nucleic 75

cDNA 69

Primer pair 6

Microarray probesets 5

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MGD-MRK-38195, MGI:1924572, MGI:5316769

Summaries

All 93

Developmental Gene Expression 25

Gene Ontology 13

Phenotypes 20
Earliest

J:24946 Yin W, et al., Isolation of a novel latent transforming growth factor-beta binding protein gene (LTBP-3). J Biol Chem. 1995 Apr 28;270(17):10147-60
Latest

J:351385 Kaneko N, et al., ADAMTS2 promotes radial migration by activating TGF-beta signaling in the developing neocortex. EMBO Rep. 2024 Jul;25(7):3090-3115

TSS for Ltbp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr145862	Chr17:75312477-75312483 (+)	-83 bp
Tssr145863	Chr17:75312518-75312560 (+)	-24 bp
Tssr145864	Chr17:75312694-75312721 (+)	145 bp
Tssr145865	Chr17:75312730-75312781 (+)	193 bp
Tssr145866	Chr17:75312802-75312818 (+)	247 bp
Tssr145867	Chr17:75469923-75469927 (+)	157,362 bp
Tssr145869	Chr17:75485644-75485655 (+)	173,087 bp
Tssr145870	Chr17:75485673-75485683 (+)	173,115 bp
Tssr145871	Chr17:75485713-75485726 (+)	173,157 bp
Tssr145872	Chr17:75485770-75485789 (+)	173,217 bp
Tssr145873	Chr17:75485792-75485819 (+)	173,243 bp
Tssr145874	Chr17:75485829-75485851 (+)	173,277 bp
Tssr145875	Chr17:75485942-75485956 (+)	173,386 bp
Tssr145876	Chr17:75489647-75489664 (+)	177,093 bp
Tssr145877	Chr17:75697955-75697959 (+)	385,394 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24