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] See more...

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
  • Immunoglobulin-Binding Protein 1 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
  • ALPHA-4 3
  • Alpha 4 2
  • Alpha4 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 Opitz-Gbbb 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 Summary 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 , Rfam classification and piRNA Summary for IGBP1 Gene

Genomics for IGBP1 Gene

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
GH0XJ070132 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 454 3.4 ZBTB40 ZNF217 CTCF SIN3A POLR2G PHF8 ZIC2 POLR2A ZBTB10 CLOCK IGBP1 NONHSAG054690.2 IGBP1-AS2
GH0XJ070288 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 +157.2 157240 3.4 ZBTB40 SIN3A NRF1 POLR2G PHF8 ZNF10 ZIC2 POLR2A ZBTB11 GABPA KIF4A PDZD11 lnc-PDZD11-1 IGBP1 ARR3 RF00017-8493
GH0XJ070398 Enhancer 1 FANTOM5 Ensembl ENCODE 3.1 +265.5 265454 1.4 SKI FOXA2 CEBPB SMAD4 FOXA1 RARA ETV4 NFIL3 MIXL1 ELF3 piR-61532-356 GDPD2 ARR3 IGBP1 RNY4P23 RF00019-108 KIF4A
GH0XJ070129 Enhancer 0.4 Ensembl 0.7 -4.0 -4046 2 CTCF ZNF680 SPI1 MTND4P31 lnc-AWAT2-3 IGBP1
GH0XJ070157 Enhancer 0.2 Ensembl 0.3 +25.3 25254 1.4 RF00017-8491 IGBP1-AS1 IGBP1 NONHSAG054690.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGBP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGBP1

Top Transcription factor binding sites by QIAGEN in the IGBP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • MyoD
  • RFX1
  • STAT3

Genomic Locations for IGBP1 Gene

Genomic Locations for IGBP1 Gene
chrX:70,133,447-70,166,324
(GRCh38/hg38)
Size:
32,878 bases
Orientation:
Plus strand
chrX:69,353,299-69,386,174
(GRCh37/hg19)
Size:
32,876 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for IGBP1 Gene

Proteins for IGBP1 Gene

  • 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

Post-translational modifications for IGBP1 Gene

  • Phosphorylated.
  • Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive.
  • Ubiquitination at Lys44, Lys91, Lys241, and Lys253
  • Modification sites at PhosphoSitePlus

Other Protein References for IGBP1 Gene

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

Blocks:
  • TAP42-like protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IGBP1 Gene

GenScript: Design optimal peptide antigens:
  • Renal carcinoma antigen NY-REN-16 (IGBP1_HUMAN)

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

Molecular function for IGBP1 Gene

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.
GENATLAS Biochemistry:
B cell signal transduction molecule alpha 4,45kDa,expressed preferentially in heart,skeletal muscle and pancreas,similar to yeast TAP42 protein

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 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGBP1

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 4
cytoskeleton 3
plasma membrane 2
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 21873635
genes like me logo Genes that share ontologies with IGBP1: view

Pathways & Interactions for IGBP1 Gene

PathCards logo

SuperPathways for IGBP1 Gene

SuperPathway Contained pathways
1 Autophagy - animal
2 Autophagy Pathway
3 Regulation of lipid metabolism Insulin signaling-generic cascades
.44
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
  • Translation Regulation of EIF4F activity

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

No Compound Related Data Available

Transcripts for IGBP1 Gene

mRNA/cDNA for IGBP1 Gene

4 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGBP1

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

Expression for IGBP1 Gene

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



Protein tissue co-expression partners for IGBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGBP1 31 30
  • 89.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IGBP1 31 31 30
  • 87.9 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Igbp1 17 31 30
  • 86.69 (n)
rat
(Rattus norvegicus)
Mammalia Igbp1 30
  • 86.69 (n)
oppossum
(Monodelphis domestica)
Mammalia IGBP1 31
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGBP1 31
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGBP1 31
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGBP1 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igbp1 30
  • 60 (n)
Str.1809 30
zebrafish
(Danio rerio)
Actinopterygii igbp1 31 30
  • 59.34 (n)
OneToOne
Dr.17830 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10166 30
fruit fly
(Drosophila melanogaster)
Insecta Tap42 31 30
  • 47.35 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008797 30
  • 46.54 (n)
worm
(Caenorhabditis elegans)
Secernentea ppfr-4 31 30
  • 45.1 (n)
OneToOne
Y71H2B.3 32
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAP42 33 31
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IGBP1: view image

Paralogs for IGBP1 Gene

Paralogs for IGBP1 Gene

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

Variants for IGBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGBP1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
709966 Benign: not provided 70,133,962(+) C/T SYNONYMOUS_VARIANT
716736 Likely Benign: not provided 70,165,843(+) A/G SYNONYMOUS_VARIANT
723639 Likely Benign: not provided 70,134,637(+) T/C SYNONYMOUS_VARIANT
730942 Benign: not provided 70,146,747(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
747670 Likely Benign: not provided 70,150,275(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for IGBP1 Gene

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

(4) MalaCards diseases for IGBP1 Gene - From: 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
opitz-gbbb syndrome
  • hypertelorism with esophageal abnormality and hypospadias
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
bladder urothelial carcinoma
  • bladder transitional cell carcinoma
- 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

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 23 54
  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 23 54
  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 54
  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 54
  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 23 54

Products for IGBP1 Gene

Sources for IGBP1 Gene