Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ITGBL1 Gene

Aliases for ITGBL1 Gene

  • Integrin Subunit Beta Like 1 2 3 5
  • Ten Integrin EGF-Like Repeat Domain-Containing Protein 3 4
  • Integrin, Beta-Like 1 (With EGF-Like Repeat Domains) 2 3
  • Osteoblast-Specific Cysteine-Rich Protein 3 4
  • OSCP 3 4
  • TIED 3 4
  • Ten Integrin EGF-Like Repeat Domains Protein 2
  • Integrin Beta-Like 1 2
  • Integrin Beta Like 1 3
  • ITGBL1 2

External Ids for ITGBL1 Gene

Previous GeneCards Identifiers for ITGBL1 Gene

  • GC13P100464
  • GC13P096492
  • GC13P100941
  • GC13P099802
  • GC13P100902
  • GC13P102104
  • GC13P082698

Summaries for ITGBL1 Gene

Entrez Gene Summary for ITGBL1 Gene

  • This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for ITGBL1 Gene

ITGBL1 (Integrin Subunit Beta Like 1) is a Protein Coding gene. Diseases associated with ITGBL1 include Isolated Growth Hormone Deficiency and Corneal Dystrophy, Posterior Polymorphous, 1. An important paralog of this gene is ITGB4.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGBL1 Gene

Genomics for ITGBL1 Gene

Regulatory Elements for ITGBL1 Gene

Enhancers for ITGBL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITGBL1 on UCSC Golden Path with GeneCards custom track

Promoters for ITGBL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITGBL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGBL1 Gene

101,452,593 bp from pter
101,720,857 bp from pter
268,265 bases
Plus strand

Genomic View for ITGBL1 Gene

Genes around ITGBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGBL1 Gene

Proteins for ITGBL1 Gene

  • Protein details for ITGBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Integrin beta-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K5M5
    • B3KTP1
    • B4DQ02
    • Q8N172
    • Q9NPR0

    Protein attributes for ITGBL1 Gene

    494 amino acids
    Molecular mass:
    53921 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ITGBL1 Gene


neXtProt entry for ITGBL1 Gene

Proteomics data for ITGBL1 Gene at MOPED

Post-translational modifications for ITGBL1 Gene

  • Glycosylation at Asn 405
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ITGBL1 Gene

Domains & Families for ITGBL1 Gene

Gene Families for ITGBL1 Gene

Protein Domains for ITGBL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich stalk-like structure of integrin beta-subunits.
  • Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich stalk-like structure of integrin beta-subunits.
genes like me logo Genes that share domains with ITGBL1: view

Function for ITGBL1 Gene

Molecular function for ITGBL1 Gene

GENATLAS Biochemistry:
integrin beta-like 1,expressed in aorta,thymus and osteogenic sarcoma
genes like me logo Genes that share phenotypes with ITGBL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ITGBL1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ITGBL1 Gene

Localization for ITGBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGBL1 Gene


Subcellular locations from

Jensen Localization Image for ITGBL1 Gene COMPARTMENTS Subcellular localization image for ITGBL1 gene
Compartment Confidence
extracellular 4
plasma membrane 3
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ITGBL1 Gene

Pathways & Interactions for ITGBL1 Gene

SuperPathways for ITGBL1 Gene

No Data Available

Interacting Proteins for ITGBL1 Gene

Gene Ontology (GO) - Biological Process for ITGBL1 Gene


No data available for Pathways by source and SIGNOR curated interactions for ITGBL1 Gene

Drugs & Compounds for ITGBL1 Gene

No Compound Related Data Available

Transcripts for ITGBL1 Gene

Unigene Clusters for ITGBL1 Gene

Integrin, beta-like 1 (with EGF-like repeat domains):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGBL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP3: -
SP4: - -

Relevant External Links for ITGBL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ITGBL1 Gene

mRNA expression in normal human tissues for ITGBL1 Gene

mRNA differential expression in normal tissues according to GTEx for ITGBL1 Gene

This gene is overexpressed in Artery - Aorta (x10.5) and Artery - Tibial (x6.0).

SOURCE GeneReport for Unigene cluster for ITGBL1 Gene Hs.696554

mRNA Expression by UniProt/SwissProt for ITGBL1 Gene

Tissue specificity: Widely expressed in many tissues, but readily detectable only in aorta.
genes like me logo Genes that share expression patterns with ITGBL1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ITGBL1 Gene

Orthologs for ITGBL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGBL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ITGBL1 35
  • 88.46 (n)
  • 92.51 (a)
  • 93 (a)
(Canis familiaris)
Mammalia ITGBL1 35
  • 89.95 (n)
  • 93.32 (a)
  • 93 (a)
(Mus musculus)
Mammalia Itgbl1 35
  • 87.99 (n)
  • 90.89 (a)
Itgbl1 16
Itgbl1 36
  • 91 (a)
(Pan troglodytes)
Mammalia ITGBL1 35
  • 99.73 (n)
  • 99.6 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Itgbl1 35
  • 88.06 (n)
  • 91.3 (a)
(Monodelphis domestica)
Mammalia ITGBL1 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia ITGBL1 36
  • 86 (a)
(Gallus gallus)
Aves ITGBL1 35
  • 79.36 (n)
  • 82.55 (a)
  • 80 (a)
(Anolis carolinensis)
Reptilia ITGBL1 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia itgbl1 35
  • 76.31 (n)
  • 81.06 (a)
(Danio rerio)
Actinopterygii itgbl1 35
  • 67.89 (n)
  • 69.12 (a)
itgbl1 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta betaInt-nu 36
  • 14 (a)
(Caenorhabditis elegans)
Secernentea C05D9.3 36
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
Species with no ortholog for ITGBL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGBL1 Gene

Gene Tree for ITGBL1 (if available)
Gene Tree for ITGBL1 (if available)

Paralogs for ITGBL1 Gene

Paralogs for ITGBL1 Gene

(1) SIMAP similar genes for ITGBL1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ITGBL1: view

Variants for ITGBL1 Gene

Sequence variations from dbSNP and Humsavar for ITGBL1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1140605 - 101,567,842(+) CTAAT(G/T)CAGGT intron-variant, nc-transcript-variant, reference, missense
rs4000 -- 101,689,420(-) CTTCT(A/G)TTTAG intron-variant
rs875115 -- 101,523,712(-) GTGCA(A/T)CCATT intron-variant
rs875116 -- 101,523,547(-) CAGTC(C/T)TGGAT intron-variant
rs875117 -- 101,523,529(-) ACTCC(A/G)GAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITGBL1 Gene

Variant ID Type Subtype PubMed ID
nsv900962 CNV Gain 21882294
dgv1787n71 CNV Gain 21882294
nsv832701 CNV Loss 17160897
dgv1788n71 CNV Loss 21882294
nsv523777 CNV Loss 19592680
dgv1789n71 CNV Loss 21882294
nsv900970 CNV Loss 21882294
nsv510361 CNV Loss 20534489
nsv521536 CNV Loss 19592680
nsv832702 CNV Gain 17160897
esv2668867 CNV Deletion 23128226
nsv1151 CNV Insertion 18451855
nsv456097 CNV Loss 19166990

Variation tolerance for ITGBL1 Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.37% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ITGBL1 Gene

Disorders for ITGBL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ITGBL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
isolated growth hormone deficiency
  • dwarfism, growth hormone deficiency
corneal dystrophy, posterior polymorphous, 1
  • posterior polymorphous corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ITGBL1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ITGBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGBL1 Gene

Publications for ITGBL1 Gene

  1. Cloning and characterization of a novel beta integrin-related cDNA coding for the protein TIED ('ten beta integrin EGF-like repeat domains') that maps to chromosome band 13q33: a divergent stand-alone integrin stalk structure. (PMID: 10051402) Berg R.W. … Krissansen G.W. (Genomics 1999) 2 3 4 23 67
  2. ITGBL1 Is a Runx2 Transcriptional Target and Promotes Breast Cancer Bone Metastasis by Activating the TGFI^ Signaling Pathway. (PMID: 26060017) Li X.Q. … Feng Y.M. (Cancer Res. 2015) 3
  3. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PMID: 23192594) Velez Edwards D.R. … Edwards T.L. (Hum. Genet. 2013) 3
  4. Genome-wide association study of atypical psychosis. (PMID: 24132900) Kanazawa T. … Yoneda H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2013) 3
  5. Mid-gestational gene expression profile in placenta and link to pregnancy complications. (PMID: 23145134) UuskA1la L. … Laan M. (PLoS ONE 2012) 3

Products for ITGBL1 Gene

Sources for ITGBL1 Gene