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Aliases for ITGBL1 Gene

Aliases for ITGBL1 Gene

  • Integrin, Beta-Like 1 (With EGF-Like Repeat Domains) 2 3
  • TIED 3 4 6
  • Ten Integrin EGF-Like Repeat Domain-Containing Protein 3 4
  • Osteoblast-Specific Cysteine-Rich Protein 3 4
  • OSCP 3 4
  • Ten Integrin EGF-Like Repeat Domains Protein 2
  • Integrin Beta-Like Protein 1 3
  • Integrin Beta-Like 1 2
  • ITGBL1 2

External Ids for ITGBL1 Gene

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, Beta-Like 1 (With EGF-Like Repeat Domains)) is a Protein Coding gene. Diseases associated with ITGBL1 include isolated growth hormone deficiency. 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

Genomic Location for ITGBL1 Gene

Start:
101,452,576 bp from pter
End:
101,720,857 bp from pter
Size:
268,282 bases
Orientation:
Plus strand

Genomic View for ITGBL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITGBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGBL1 Gene

Regulatory Elements for ITGBL1 Gene

Proteins for ITGBL1 Gene

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

    Protein Symbol:
    O95965-ITGBL_HUMAN
    Recommended name:
    Integrin beta-like protein 1
    Protein Accession:
    O95965
    Secondary Accessions:
    • A8K5M5
    • B3KTP1
    • B4DQ02
    • Q8N172
    • Q9NPR0

    Protein attributes for ITGBL1 Gene

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

    Alternative splice isoforms for ITGBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGBL1 Gene

Proteomics data for ITGBL1 Gene at MOPED

Post-translational modifications for ITGBL1 Gene

No data available for DME Specific Peptides for ITGBL1 Gene

Domains for ITGBL1 Gene

Protein Domains for ITGBL1 Gene

Graphical View of Domain Structure for InterPro Entry

O95965

UniProtKB/Swiss-Prot:

ITGBL_HUMAN
Domain:
  • Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich stalk-like structure of integrin beta-subunits:
    • O95965
genes like me logo Genes that share domains with ITGBL1: view

No data available for Gene Families for ITGBL1 Gene

Function for ITGBL1 Gene

Molecular function for ITGBL1 Gene

GENATLAS Biochemistry: integrin beta-like 1,expressed in aorta,thymus and osteogenic sarcoma

Gene Ontology (GO) - Molecular Function for ITGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ITGBL1: view

Phenotypes for ITGBL1 Gene

GenomeRNAi human phenotypes for ITGBL1:
genes like me logo Genes that share phenotypes with ITGBL1: view

miRNA for ITGBL1 Gene

miRTarBase miRNAs that target ITGBL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ITGBL1 Gene

Localization for ITGBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGBL1 Gene

Secreted.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ITGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ITGBL1: view

Pathways for ITGBL1 Gene

SuperPathways for ITGBL1 Gene

No Data Available

Interacting Proteins for ITGBL1 Gene

Gene Ontology (GO) - Biological Process for ITGBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 10051402
genes like me logo Genes that share ontologies with ITGBL1: view

No data available for Pathways by source for ITGBL1 Gene

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
SP1:
SP2:
SP3: -
SP4: - -

Relevant External Links for ITGBL1 Gene

GeneLoc Exon Structure for
ITGBL1
ECgene alternative splicing isoforms for
ITGBL1

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 (10.5) and Artery - Tibial (6.0).

SOURCE GeneReport for Unigene cluster for ITGBL1 Gene Hs.696554

mRNA Expression by UniProt/SwissProt for ITGBL1 Gene

O95965-ITGBL_HUMAN
Tissue specificity: Widely expressed in many tissues, but readily detectable only in aorta.
genes like me logo Genes that share expressions with ITGBL1: view

No data available for Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia ITGBL1 35
  • 99.73 (n)
  • 99.6 (a)
ITGBL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITGBL1 35
  • 88.46 (n)
  • 92.51 (a)
ITGBL1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGBL1 35
  • 89.95 (n)
  • 93.32 (a)
ITGBL1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgbl1 35
  • 87.99 (n)
  • 90.89 (a)
Itgbl1 16
Itgbl1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITGBL1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGBL1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgbl1 35
  • 88.06 (n)
  • 91.3 (a)
chicken
(Gallus gallus)
Aves ITGBL1 35
  • 79.36 (n)
  • 82.55 (a)
ITGBL1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGBL1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgbl1 35
  • 76.31 (n)
  • 81.06 (a)
zebrafish
(Danio rerio)
Actinopterygii itgbl1 35
  • 67.89 (n)
  • 69.12 (a)
itgbl1 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta betaInt-nu 36
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C05D9.3 36
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ITGBL1 (if available)
TreeFam:
Gene Tree for ITGBL1 (if available)

Paralogs for ITGBL1 Gene

Paralogs for ITGBL1 Gene

Selected 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 MAF
rs4000 -- 101,689,420(-) CTTCT(A/G)TTTAG intron-variant
rs726784 -- 101,708,062(-) TGTGT(A/G)TGTGT intron-variant
rs748478 -- 101,696,684(-) CTCTC(A/G)ATACA intron-variant
rs767708 -- 101,625,377(+) TGCCA(A/G)TGAAA intron-variant
rs875115 -- 101,523,712(-) GTGCA(A/T)CCATT 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

Relevant External Links for ITGBL1 Gene

HapMap Linkage Disequilibrium report
ITGBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGBL1 Gene

Disorders for ITGBL1 Gene

Relevant External Links for ITGBL1

Genetic Association Database (GAD)
ITGBL1
Human Genome Epidemiology (HuGE) Navigator
ITGBL1
genes like me logo Genes that share disorders with ITGBL1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. (PMID: 12364586) Chumakov I. … Cohen D. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48

Products for ITGBL1 Gene

Sources for ITGBL1 Gene

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