Human Gene IGBP1 (ENST00000356413.5_4) from GENCODE V47lift37
  Description: immunoglobulin binding protein 1, transcript variant 1 (from RefSeq NM_001551.3)
Gencode Transcript: ENST00000356413.5_4
Gencode Gene: ENSG00000089289.16_7
Transcript (Including UTRs)
   Position: hg19 chrX:69,353,297-69,386,174 Size: 32,878 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chrX:69,353,798-69,385,831 Size: 32,034 Coding Exon Count: 6 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:69,353,297-69,386,174)mRNA (may differ from genome)Protein (339 aa)
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-  Comments and Description Text from UniProtKB
  ID: IGBP1_HUMAN
DESCRIPTION: RecName: Full=Immunoglobulin-binding protein 1; AltName: Full=B-cell signal transduction molecule alpha 4; Short=Protein alpha-4; AltName: Full=CD79a-binding protein 1; AltName: Full=Protein phosphatase 2/4/6 regulatory subunit; AltName: Full=Renal carcinoma antigen NY-REN-16;
FUNCTION: Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of PP2A, PP4 and PP6 phosphatases catalytic subunits by protecting them from degradative polyubiquitination until they associate with regulatory subunits.
SUBUNIT: Associates with PP2A-alpha and PP2A-beta catalytic subunits, and with PP4 and PP6. Interacts with MID1 and MID2. Interacts with Ubiquitin.
INTERACTION: P67775:PPP2CA; NbExp=9; IntAct=EBI-1055954, EBI-712311; P62714:PPP2CB; NbExp=3; IntAct=EBI-1055954, EBI-1044367; P60510:PPP4C; NbExp=7; IntAct=EBI-1055954, EBI-1046072; O00743:PPP6C; NbExp=8; IntAct=EBI-1055954, EBI-359751;
SUBCELLULAR LOCATION: Cytoplasm (Potential).
TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas.
DOMAIN: The UIM domain is required for protective effect on PP2A (By similarity).
PTM: Phosphorylated (By similarity).
PTM: Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive.
DISEASE: Defects in IGBP1 are the cause of mental retardation syndromic X-linked type 28 (MRXS28) [MIM:300472]; also known as agenesis of the corpus callosum with mental retardation, ocular coloboma and micrognathia. A syndrome that is characterized by coloboma of the iris and optic nerve, severe retrognathia, intellectual deficit, and agenesis of the corpus callosum.
SIMILARITY: Belongs to the IGBP1/TAP42 family.
SIMILARITY: Contains 1 UIM (ubiquitin-interacting motif) repeat.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IGBP1
Diseases sorted by gene-association score: corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia* (1350), opitz-gbbb syndrome (12), labyrinthitis (9), coloboma (8), alport syndrome, autosomal dominant (7), norum disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.59 RPKM in Ovary
Total median expression: 1635.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -107.20319-0.336 Picture PostScript Text
3' UTR -79.90343-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007304 - TAP42-like

Pfam Domains:
PF04177 - TAP42-like family

ModBase Predicted Comparative 3D Structure on P78318
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019888 protein phosphatase regulator activity
GO:0051721 protein phosphatase 2A binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0009966 regulation of signal transduction
GO:0032873 negative regulation of stress-activated MAPK cascade
GO:0034612 response to tumor necrosis factor
GO:0035303 regulation of dephosphorylation
GO:0042113 B cell activation
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0060632 regulation of microtubule-based movement
GO:0070555 response to interleukin-1

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK054596 - Homo sapiens cDNA FLJ30034 fis, clone 3NB692001442, highly similar to Immunoglobulin-binding protein 1.
BC004137 - Homo sapiens immunoglobulin (CD79A) binding protein 1, mRNA (cDNA clone MGC:1556 IMAGE:2962967), complete cds.
AK315660 - Homo sapiens cDNA, FLJ96752, highly similar to Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1),mRNA.
Y08915 - H.sapiens mRNA for alpha 4 protein.
CR456782 - Homo sapiens full open reading frame cDNA clone RZPDo834G014D for gene IGBP1, immunoglobulin (CD79A) binding protein 1; complete cds, incl. stopcodon.
AB528510 - Synthetic construct DNA, clone: pF1KB6420, Homo sapiens IGBP1 gene for immunoglobulin (CD79A) binding protein 1, without stop codon, in Flexi system.
BT006736 - Homo sapiens immunoglobulin (CD79A) binding protein 1 mRNA, complete cds.
DQ892322 - Synthetic construct clone IMAGE:100004952; FLH185249.01X; RZPDo839G12146D immunoglobulin (CD79A) binding protein 1 (IGBP1) gene, encodes complete protein.
DQ895524 - Synthetic construct Homo sapiens clone IMAGE:100009984; FLH185245.01L; RZPDo839G12145D immunoglobulin (CD79A) binding protein 1 (IGBP1) gene, encodes complete protein.
JD174497 - Sequence 155521 from Patent EP1572962.
JD135448 - Sequence 116472 from Patent EP1572962.
JD273418 - Sequence 254442 from Patent EP1572962.
JD562461 - Sequence 543485 from Patent EP1572962.
JD440242 - Sequence 421266 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000356413.1, ENST00000356413.2, ENST00000356413.3, ENST00000356413.4, IBP1, IGBP1_HUMAN, NM_001551, P78318, Q8TAB2, uc317zns.1, uc317zns.2
UCSC ID: ENST00000356413.5_4
RefSeq Accession: NM_001551.3
Protein: P78318 (aka IGBP1_HUMAN or IGB1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.