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LTBP1 latent transforming growth factor beta binding protein 1 [ Homo sapiens (human) ]

Gene ID: 4052, updated on 16-Oct-2021

Summary

Official Symbol
LTBP1provided by HGNC
Official Full Name
latent transforming growth factor beta binding protein 1provided by HGNC
Primary source
HGNC:HGNC:6714
See related
Ensembl:ENSG00000049323 MIM:150390
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
ARCL2E
Summary
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in gall bladder (RPKM 40.6), placenta (RPKM 32.5) and 24 other tissues See more
Orthologs
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Genomic context

See LTBP1 in Genome Data Viewer
Location:
2p22.3
Exon count:
39
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (32902129..33399509)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (33172020..33624576)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microRNA 4765 Neighboring gene tetratricopeptide repeat domain 27 Neighboring gene long intergenic non-protein coding RNA 486 Neighboring gene Sharpr-MPRA regulatory region 6729 Neighboring gene uncharacterized LOC105374453 Neighboring gene Sharpr-MPRA regulatory region 2981 Neighboring gene H2AC histone family pseudogene 2 Neighboring gene tRNA-yW synthesizing protein 1 homolog pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 91 Neighboring gene RNA, 5S ribosomal pseudogene 92 Neighboring gene microRNA 4430 Neighboring gene RAS guanyl releasing protein 3 Neighboring gene RASGRP3 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
MedGen: CN300064 OMIM: 619451 GeneReviews: Not available
not available
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Identification of 15 loci influencing height in a Korean population.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163161

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
latent-transforming growth factor beta-binding protein 1
Names
LTBP-1
TGF-beta1-BP-1
transforming growth factor beta-1-binding 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)

  1. NM_000627.4NP_000618.4  latent-transforming growth factor beta-binding protein 1 isoform LTBP-1S precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (LTBP-1S) contains a shorter and distinct N-terminus, compared to isoform LTBP-1L.
    Source sequence(s)
    AC019127, AC019195, AC020594
    Consensus CDS
    CCDS33178.2
    Related
    ENSP00000384091.1, ENST00000407925.5
    Conserved Domains (6) summary
    smart00179
    Location:876917
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:672705
    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 ...
    pfam07645
    Location:589629
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:363404
    TB; TB domain
    pfam12662
    Location:570592
    cEGF; Complement Clr-like EGF-like
  2. NM_001166264.2NP_001159736.2  latent-transforming growth factor beta-binding protein 1 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform LTBP-1L.
    Source sequence(s)
    AC019127, AC019195, AC020594
    Consensus CDS
    CCDS54344.1
    Related
    ENSP00000393057.2, ENST00000418533.6
    Conserved Domains (6) summary
    smart00179
    Location:876917
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:672705
    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 ...
    pfam07645
    Location:589629
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:363404
    TB; TB domain
    pfam12662
    Location:570592
    cEGF; Complement Clr-like EGF-like
  3. NM_001166265.2NP_001159737.2  latent-transforming growth factor beta-binding protein 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform LTBP-1L.
    Source sequence(s)
    AC019127, AC019195, AC020594
    Consensus CDS
    CCDS54345.1
    Related
    ENSP00000385359.1, ENST00000404525.5
    Conserved Domains (5) summary
    smart00179
    Location:823864
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:619652
    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 ...
    pfam07645
    Location:536576
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:9801023
    TB; TB domain
    pfam12662
    Location:517539
    cEGF; Complement Clr-like EGF-like
  4. NM_001166266.2NP_001159738.2  latent-transforming growth factor beta-binding protein 1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform LTBP-1L.
    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (5) summary
    smart00179
    Location:823864
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:619652
    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 ...
    pfam07645
    Location:536576
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:938981
    TB; TB domain
    pfam12662
    Location:517539
    cEGF; Complement Clr-like EGF-like
  5. NM_001394905.1NP_001381834.1  latent-transforming growth factor beta-binding protein 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594, AL133244
    Conserved Domains (5) summary
    smart00179
    Location:11491190
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:945978
    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 ...
    pfam07645
    Location:862902
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:13061349
    TB; TB domain
    pfam12662
    Location:843865
    cEGF; Complement Clr-like EGF-like
  6. NM_001394906.1NP_001381835.1  latent-transforming growth factor beta-binding protein 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:875916
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:671704
    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 ...
    pfam07645
    Location:588628
    EGF_CA; Calcium-binding EGF domain
  7. NM_001394907.1NP_001381836.1  latent-transforming growth factor beta-binding protein 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:847888
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:643676
    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 ...
    pfam07645
    Location:560600
    EGF_CA; Calcium-binding EGF domain
  8. NM_001394908.1NP_001381837.1  latent-transforming growth factor beta-binding protein 1 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:836877
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    pfam07645
    Location:589629
    EGF_CA; Calcium-binding EGF domain
  9. NM_001394909.1NP_001381838.1  latent-transforming growth factor beta-binding protein 1 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (4) summary
    smart00179
    Location:834875
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:630663
    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 ...
    pfam07645
    Location:547587
    EGF_CA; Calcium-binding EGF domain
  10. NM_001394910.1NP_001381839.1  latent-transforming growth factor beta-binding protein 1 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:875916
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:671704
    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 ...
    pfam07645
    Location:588628
    EGF_CA; Calcium-binding EGF domain
  11. NM_001394911.1NP_001381840.1  latent-transforming growth factor beta-binding protein 1 isoform 12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:833874
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:629662
    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 ...
    pfam07645
    Location:546586
    EGF_CA; Calcium-binding EGF domain
  12. NM_001394912.1NP_001381841.1  latent-transforming growth factor beta-binding protein 1 isoform 13 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (4) summary
    smart00179
    Location:876917
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:672705
    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 ...
    pfam07645
    Location:589629
    EGF_CA; Calcium-binding EGF domain
  13. NM_001394913.1NP_001381842.1  latent-transforming growth factor beta-binding protein 1 isoform 14 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:822863
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:618651
    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 ...
    pfam07645
    Location:535575
    EGF_CA; Calcium-binding EGF domain
  14. NM_001394914.1NP_001381843.1  latent-transforming growth factor beta-binding protein 1 isoform 15 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (4) summary
    smart00179
    Location:806847
    EGF_CA; Calcium-binding EGF-like domain
    PRK03427
    Location:397511
    PRK03427; cell division protein ZipA; Provisional
    cd00054
    Location:602635
    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 ...
    pfam07645
    Location:519559
    EGF_CA; Calcium-binding EGF domain
  15. NM_001394915.1NP_001381844.1  latent-transforming growth factor beta-binding protein 1 isoform 16 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (4) summary
    smart00179
    Location:848889
    EGF_CA; Calcium-binding EGF-like domain
    PRK03427
    Location:397511
    PRK03427; cell division protein ZipA; Provisional
    cd00054
    Location:644677
    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 ...
    pfam07645
    Location:561601
    EGF_CA; Calcium-binding EGF domain
  16. NM_001394916.1NP_001381845.1  latent-transforming growth factor beta-binding protein 1 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (4) summary
    smart00179
    Location:795836
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:335461
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:591624
    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 ...
    pfam07645
    Location:508548
    EGF_CA; Calcium-binding EGF domain
  17. NM_001394917.1NP_001381846.1  latent-transforming growth factor beta-binding protein 1 isoform 18 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (5) summary
    smart00179
    Location:834875
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:630663
    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 ...
    pfam07645
    Location:547587
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:363404
    TB; TB domain
  18. NM_001394918.1NP_001381847.1  latent-transforming growth factor beta-binding protein 1 isoform 19 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (4) summary
    smart00179
    Location:876917
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416542
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:672705
    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 ...
    pfam07645
    Location:589629
    EGF_CA; Calcium-binding EGF domain
  19. NM_001394919.1NP_001381848.1  latent-transforming growth factor beta-binding protein 1 isoform 20 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:875916
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:671704
    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 ...
    pfam07645
    Location:588628
    EGF_CA; Calcium-binding EGF domain
  20. NM_001394920.1NP_001381849.1  latent-transforming growth factor beta-binding protein 1 isoform 21 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:781822
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:577610
    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 ...
    pfam07645
    Location:494534
    EGF_CA; Calcium-binding EGF domain
  21. NM_001394921.1NP_001381850.1  latent-transforming growth factor beta-binding protein 1 isoform 22 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:822863
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:618651
    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 ...
    pfam07645
    Location:535575
    EGF_CA; Calcium-binding EGF domain
  22. NM_001394923.1NP_001381852.1  latent-transforming growth factor beta-binding protein 1 isoform 23 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (2) summary
    smart00179
    Location:741782
    EGF_CA; Calcium-binding EGF-like domain
    pfam07645
    Location:494534
    EGF_CA; Calcium-binding EGF domain
  23. NM_001394924.1NP_001381853.1  latent-transforming growth factor beta-binding protein 1 isoform 24 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:781822
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:577610
    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 ...
    pfam07645
    Location:494534
    EGF_CA; Calcium-binding EGF domain
  24. NM_001394925.1NP_001381854.1  latent-transforming growth factor beta-binding protein 1 isoform 25 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:823864
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:619652
    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 ...
    pfam07645
    Location:536576
    EGF_CA; Calcium-binding EGF domain
  25. NM_001394926.1NP_001381855.1  latent-transforming growth factor beta-binding protein 1 isoform 26 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:781822
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:577610
    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 ...
    pfam07645
    Location:494534
    EGF_CA; Calcium-binding EGF domain
  26. NM_001394927.1NP_001381856.1  latent-transforming growth factor beta-binding protein 1 isoform 27 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019127, AC019195, AC020594
    Conserved Domains (3) summary
    smart00179
    Location:781822
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:577610
    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 ...
    pfam07645
    Location:494534
    EGF_CA; Calcium-binding EGF domain
  27. NM_206943.4NP_996826.3  latent-transforming growth factor beta-binding protein 1 isoform LTBP-1L precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (LTBP-1L). There are no full-length transcripts representing this variant in human, but it is supported by overlapping partial transcripts, full-length homologous rat and mouse transcripts, and data in PMID:8537398.
    Source sequence(s)
    AC019127, AC019195, AC020594, AL133244
    Consensus CDS
    CCDS33177.2
    Related
    ENSP00000386043.2, ENST00000404816.7
    Conserved Domains (6) summary
    smart00179
    Location:12021243
    EGF_CA; Calcium-binding EGF-like domain
    PRK03427
    Location:751865
    PRK03427; cell division protein ZipA; Provisional
    cd00054
    Location:9981031
    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 ...
    pfam07645
    Location:915955
    EGF_CA; Calcium-binding EGF domain
    pfam00683
    Location:689730
    TB; TB domain
    pfam12662
    Location:896918
    cEGF; Complement Clr-like EGF-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    32902129..33399509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452888.1XP_024308656.1  latent-transforming growth factor beta-binding protein 1 isoform X14

    Conserved Domains (6) summary
    smart00179
    Location:10041045
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:800833
    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:490529
    TB; TB domain
    pfam07645
    Location:717757
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:698720
    cEGF; Complement Clr-like EGF-like
    cl26464
    Location:543670
    Atrophin-1; Atrophin-1 family
  2. XM_011532853.2XP_011531155.1  latent-transforming growth factor beta-binding protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q14766
    Conserved Domains (5) summary
    smart00179
    Location:12031244
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9991032
    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:689724
    TB; TB domain
    pfam07645
    Location:916956
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  3. XM_011532857.2XP_011531159.1  latent-transforming growth factor beta-binding protein 1 isoform X5

    Conserved Domains (5) summary
    smart00179
    Location:12031244
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9991032
    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:689724
    TB; TB domain
    pfam07645
    Location:916956
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  4. XM_011532861.2XP_011531163.1  latent-transforming growth factor beta-binding protein 1 isoform X12

    Conserved Domains (5) summary
    smart00179
    Location:12031244
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9991032
    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:689724
    TB; TB domain
    pfam07645
    Location:916956
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  5. XM_011532856.2XP_011531158.1  latent-transforming growth factor beta-binding protein 1 isoform X3

    Conserved Domains (4) summary
    smart00179
    Location:11631204
    EGF_CA; Calcium-binding EGF-like domain
    pfam00683
    Location:689724
    TB; TB domain
    pfam07645
    Location:916956
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  6. XM_011532858.2XP_011531160.1  latent-transforming growth factor beta-binding protein 1 isoform X6

    Conserved Domains (4) summary
    smart00179
    Location:11611202
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:957990
    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:689724
    TB; TB domain
    pfam07645
    Location:874914
    EGF_CA; Calcium-binding EGF domain
  7. XM_017004109.1XP_016859598.1  latent-transforming growth factor beta-binding protein 1 isoform X7

  8. XM_017004108.1XP_016859597.1  latent-transforming growth factor beta-binding protein 1 isoform X4

  9. XM_017004110.1XP_016859599.1  latent-transforming growth factor beta-binding protein 1 isoform X11

  10. XM_011532855.2XP_011531157.1  latent-transforming growth factor beta-binding protein 1 isoform X2

    Conserved Domains (5) summary
    smart00179
    Location:12011242
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9971030
    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:689724
    TB; TB domain
    pfam07645
    Location:914954
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:895917
    cEGF; Complement Clr-like EGF-like
  11. XM_011532859.2XP_011531161.1  latent-transforming growth factor beta-binding protein 1 isoform X8

    Conserved Domains (5) summary
    smart00179
    Location:11501191
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:946979
    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:689723
    TB; TB domain
    pfam07645
    Location:863903
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:844866
    cEGF; Complement Clr-like EGF-like
  12. XM_005264318.3XP_005264375.1  latent-transforming growth factor beta-binding protein 1 isoform X13

    Conserved Domains (5) summary
    smart00179
    Location:11491190
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:945978
    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:689723
    TB; TB domain
    pfam07645
    Location:862902
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:843865
    cEGF; Complement Clr-like EGF-like
  13. XM_011532860.2XP_011531162.1  latent-transforming growth factor beta-binding protein 1 isoform X10

    Conserved Domains (5) summary
    smart00179
    Location:11471188
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:943976
    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:633668
    TB; TB domain
    pfam07645
    Location:860900
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:841863
    cEGF; Complement Clr-like EGF-like
  14. XM_011532862.2XP_011531164.1  latent-transforming growth factor beta-binding protein 1 isoform X16

    Conserved Domains (5) summary
    smart00179
    Location:12031244
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9991032
    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:689724
    TB; TB domain
    pfam07645
    Location:916956
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  15. XM_024452889.1XP_024308657.1  latent-transforming growth factor beta-binding protein 1 isoform X14

    Conserved Domains (6) summary
    smart00179
    Location:10041045
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:800833
    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:490529
    TB; TB domain
    pfam07645
    Location:717757
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:698720
    cEGF; Complement Clr-like EGF-like
    cl26464
    Location:543670
    Atrophin-1; Atrophin-1 family
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