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IGBP1 Gene(Protein Coding)

Immunoglobulin Binding Protein 1

GCID:
GC0XP070133
GIFtS:
53
Genes Participants
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Aliases for IGBP1 Gene

Aliases for IGBP1 Gene

  • Immunoglobulin Binding Protein 1 2 3 5
  • Protein Phosphatase 2/4/6 Regulatory Subunit 3 4
  • Immunoglobulin (CD79A) Binding Protein 1 2 3
  • Renal Carcinoma Antigen NY-REN-16 3 4
  • CD79a-Binding Protein 1 3 4
  • Protein Alpha-4 3 4
  • IBP1 3 4
  • BA351K23.1 (Immunoglobulin Binding Protein 1 (CD79A) ) 3
  • Protein Phosphatase 2A, Regulatory Subunit Alpha-4 3
  • B Cell Signal Transduction Molecule Alpha 4 3
  • B-Cell Signal Transduction Molecule Alpha 4 4
  • Immunoglobulin-Binding Protein 1 3
  • Alpha 4 2
  • ALPHA-4 3

External Ids for IGBP1 Gene

Previous HGNC Symbols for IGBP1 Gene

  • IBP1

Previous GeneCards Identifiers for IGBP1 Gene

  • GC0XP065531
  • GC0XP066830
  • GC0XP067586
  • GC0XP068220
  • GC0XP069136
  • GC0XP069270
  • GC0XP069353
  • GC0XP063174

Summaries for IGBP1 Gene

Entrez Gene Summary for IGBP1 Gene

  • The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]

GeneCards Summary for IGBP1 Gene

IGBP1 (Immunoglobulin Binding Protein 1) is a Protein Coding gene. Diseases associated with IGBP1 include Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia and Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome. Among its related pathways are Autophagy - animal and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein phosphatase 2A binding. An important paralog of this gene is ENSG00000266826.

UniProtKB/Swiss-Prot for IGBP1 Gene

  • Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.

Gene Wiki entry for IGBP1 Gene

Additional gene information for IGBP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGBP1 Gene

Genomics for IGBP1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for IGBP1 Gene

Promoters and enhancers for IGBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XI070132 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 268 2.9 PKNOX1 CLOCK FOXA2 SMAD1 ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B IGBP1 IGBP1-AS2
GH0XI070288 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.2 +156.8 156838 2.6 ATF1 ARID4B SIN3A ETS1 POLR2B GLIS2 ELK1 KLF7 RUNX3 SP3 KIF4A PDZD11 MED12 NONO IGBP1 P2RY4 ARR3
GH0XI070398 Enhancer 1 FANTOM5 ENCODE 3.1 +265.5 265547 1.1 ELF3 SOX13 GATAD2A FOXA2 FOXA3 CEBPG HMG20A RARA ZNF7 SKI GDPD2 ARR3 IGBP1 RNY4P23 KIF4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IGBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGBP1 gene promoter:

Genomic Locations for IGBP1 Gene

Genomic Locations for IGBP1 Gene
chrX:70,133,449-70,166,324
(GRCh38/hg38)
Size:
32,876 bases
Orientation:
Plus strand
chrX:69,353,299-69,386,174
(GRCh37/hg19)

Genomic View for IGBP1 Gene

Genes around IGBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGBP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IGBP1 Gene

Proteins for IGBP1 Gene

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  • Protein details for IGBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78318-IGBP1_HUMAN
    Recommended name:
    Immunoglobulin-binding protein 1
    Protein Accession:
    P78318
    Secondary Accessions:
    • Q8TAB2

    Protein attributes for IGBP1 Gene

    Size:
    339 amino acids
    Molecular mass:
    39222 Da
    Quaternary structure:
    • Interacts with partially folded PPP2CA, but not with the fully active protein. Interacts with PPP2CB, and with PP4 and PP6. Interacts with MID1 and MID2. Interacts with ubiquitin.

    Three dimensional structures from OCA and Proteopedia for IGBP1 Gene

neXtProt entry for IGBP1 Gene

Protein Expression for IGBP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IGBP1 Gene

  • Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive.
  • Phosphorylated.
  • Ubiquitination at isoforms=44, isoforms=91, and posLast=253253
  • Modification sites at PhosphoSitePlus

Other Protein References for IGBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IGBP1 Gene

Domains & Families for IGBP1 Gene

Gene Families for IGBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for IGBP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for IGBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78318

UniProtKB/Swiss-Prot:

IGBP1_HUMAN :
  • The UIM domain is required for protective effect on PP2A.
  • Belongs to the IGBP1/TAP42 family.
Domain:
  • The UIM domain is required for protective effect on PP2A.
Family:
  • Belongs to the IGBP1/TAP42 family.
genes like me logo Genes that share domains with IGBP1: view

Function for IGBP1 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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Molecular function for IGBP1 Gene

GENATLAS Biochemistry:
B cell signal transduction molecule alpha 4,45kDa,expressed preferentially in heart,skeletal muscle and pancreas,similar to yeast TAP42 protein
UniProtKB/Swiss-Prot Function:
Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.

Gene Ontology (GO) - Molecular Function for IGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9647778
GO:0019888 protein phosphatase regulator activity IDA 9647778
GO:0051721 protein phosphatase 2A binding IBA --
genes like me logo Genes that share ontologies with IGBP1: view
genes like me logo Genes that share phenotypes with IGBP1: view

Human Phenotype Ontology for IGBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for IGBP1 Gene

Localization for IGBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGBP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGBP1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 9647778
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with IGBP1: view

Pathways & Interactions for IGBP1 Gene

genes like me logo Genes that share pathways with IGBP1: view

Pathways by source for IGBP1 Gene

2 KEGG pathways for IGBP1 Gene
1 GeneGo (Thomson Reuters) pathway for IGBP1 Gene

Gene Ontology (GO) - Biological Process for IGBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 17438131
GO:0007165 signal transduction NAS 9647778
GO:0009966 regulation of signal transduction IEA --
GO:0032873 negative regulation of stress-activated MAPK cascade IMP 17438131
GO:0034612 response to tumor necrosis factor IMP 17438131
genes like me logo Genes that share ontologies with IGBP1: view

No data available for SIGNOR curated interactions for IGBP1 Gene

Drugs & Compounds for IGBP1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for IGBP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IGBP1 Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(348) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IGBP1 Gene

Immunoglobulin (CD79A) binding protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGBP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1:
SP2:
SP3: - - - -
SP4: -
SP5: -
SP6: -

Relevant External Links for IGBP1 Gene

GeneLoc Exon Structure for
IGBP1
ECgene alternative splicing isoforms for
IGBP1

Expression for IGBP1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGBP1 Gene

mRNA expression in normal human tissues for IGBP1 Gene
mRNA expression by GTEx for IGBP1 GenemRNA expression by BioGPS for IGBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IGBP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.0), Plasma (8.7), and Heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IGBP1 Gene



Protein tissue co-expression partners for IGBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IGBP1 Gene:

IGBP1

SOURCE GeneReport for Unigene cluster for IGBP1 Gene:

Hs.496267

mRNA Expression by UniProt/SwissProt for IGBP1 Gene:

P78318-IGBP1_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas.

Evidence on tissue expression from TISSUES for IGBP1 Gene

  • Nervous system(3.7)
  • Blood(2.7)
  • Heart(2.2)
  • Kidney(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGBP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IGBP1: view

No data available for mRNA differential expression in normal tissues for IGBP1 Gene

Orthologs for IGBP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IGBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia IGBP1 34
  • 98 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia IGBP1 33 34
  • 89.71 (n)
cow
(Bos Taurus)
 Mammalia IGBP1 33 34 34
  • 87.9 (n)
mouse
(Mus musculus)
 Mammalia Igbp1 33 16 34
  • 86.69 (n)
rat
(Rattus norvegicus)
 Mammalia Igbp1 33
  • 86.69 (n)
oppossum
(Monodelphis domestica)
 Mammalia IGBP1 34
  • 60 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia IGBP1 34
  • 39 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves IGBP1 34
  • 43 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia IGBP1 34
  • 47 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia igbp1 33
  • 60 (n)
Str.1809 33
zebrafish
(Danio rerio)
 Actinopterygii igbp1 33 34
  • 59.34 (n)
Dr.17830 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10166 33
fruit fly
(Drosophila melanogaster)
 Insecta Tap42 33 34
  • 47.35 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008797 33
  • 46.54 (n)
worm
(Caenorhabditis elegans)
 Secernentea ppfr-4 33 34
  • 45.1 (n)
Y71H2B.3 35
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TAP42 34 36
  • 21 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 40 (a)
 OneToOne
Species where no ortholog for IGBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 IGBP1 Gene

ENSEMBL:
Gene Tree for IGBP1 (if available)
TreeFam:
Gene Tree for IGBP1 (if available)

Paralogs for IGBP1 Gene

Paralogs for IGBP1 Gene

Pseudogenes.org Pseudogenes for IGBP1 Gene

genes like me logo Genes that share paralogs with IGBP1: view

Variants for IGBP1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for IGBP1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs775974573 uncertain-significance, not specified 70,165,830(+) T/C genic_downstream_transcript_variant, intron_variant
rs143163513 benign, not specified 70,134,651(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000069380 -- 70,136,465(+) C/A intron_variant
rs1000232609 -- 70,162,040(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000416679 -- 70,163,180(+) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IGBP1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354

Variation tolerance for IGBP1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGBP1 Gene

Human Gene Mutation Database (HGMD)
IGBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGBP1 Gene

Disorders for IGBP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IGBP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
  • mental retardation, x-linked, syndromic 28; mrxs28
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
  • corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
opitz-gbbb syndrome
  • opitz g/bbb syndrome
labyrinthitis
  • labyrinthine disorder
alport syndrome, autosomal dominant
  • autosomal dominant alport syndrome
- elite association - COSMIC cancer census association via MalaCards
Search IGBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGBP1_HUMAN
  • Mental retardation, X-linked, syndromic, 28 (MRXS28) [MIM:300472]: A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:14556245}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IGBP1

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IGBP1: view

No data available for Genatlas for IGBP1 Gene

Publications for IGBP1 Gene

  1. Expression and chromosomal localization of the human alpha 4/IGBP1 gene, the structure of which is closely related to the yeast TAP42 protein of the rapamycin-sensitive signal transduction pathway. (PMID: 9441740) Onda M … Sakaguchi N (Genomics 1997) 2 3 4 22 58
  2. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. (PMID: 14556245) Graham JM … Cox TC (American journal of medical genetics. Part A 2003) 3 4 22 58
  3. Monoubiquitination promotes calpain cleavage of the protein phosphatase 2A (PP2A) regulatory subunit α4, altering PP2A stability and microtubule-associated protein phosphorylation. (PMID: 22613722) Watkins GR … Wadzinski BE (The Journal of biological chemistry 2012) 3 4 58
  4. Alpha4 is a ubiquitin-binding protein that regulates protein serine/threonine phosphatase 2A ubiquitination. (PMID: 20092282) McConnell JL … Wadzinski BE (Biochemistry 2010) 3 4 58
  5. Low resolution structure of the human alpha4 protein (IgBP1) and studies on the stability of alpha4 and of its yeast ortholog Tap42. (PMID: 16517231) Smetana JH … Zanchin NI (Biochimica et biophysica acta 2006) 3 22 58

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