IGBP1 immunoglobulin binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGBP1provided by HGNC
Official Full Name: immunoglobulin binding protein 1provided by HGNC
Primary source: HGNC:HGNC:5461
See related: Ensembl:ENSG00000089289 MIM:300139; AllianceGenome:HGNC:5461
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IBP1; MRXS28; alpha4; ALPHA-4
Summary: 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]
Expression: Ubiquitous expression in ovary (RPKM 49.2), thyroid (RPKM 31.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (70133447..70166324)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (68566802..68599681)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (69353297..69386174)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Plasma immunoglobulin binding protein 1 as a predictor of development of lupus nephritis.
Title: Plasma immunoglobulin binding protein 1 as a predictor of development of lupus nephritis.
Molecular profiling of thymoma with myasthenia gravis: Risk factors of developing myasthenia gravis in thymoma patients.
Title: Molecular profiling of thymoma with myasthenia gravis: Risk factors of developing myasthenia gravis in thymoma patients.
IGBP1 expression was increased in kidneys of lupus nephritis patients. Several genes related to lupus nephritis pathogenesis responded to siRNA-mediated IGBP1 silencing.
Title: Immunoglobulin Binding Protein 1 as a Potential Urine Biomarker in Patients with Lupus Nephritis.
Knockdown of Alpha4 preferentially impacts the expression of PP4c and PP6c compared to expression levels of PP2Ac.
Title: The three Type 2A protein phosphatases, PP2Ac, PP4c and PP6c, are differentially regulated by Alpha4.
Data show that loss of epithelial membrane protein 2 (EMP2) is involved in sphingosylphosphorylcholine (SPC)-induced phosphorylation of keratin 8 (K8) via ubiquitination of protein phosphatase 2 (PP2A) through alpha4 phosphoprotein by caveolin-1 (cav-1).
Title: Epithelial membrane protein 2 regulates sphingosylphosphorylcholine-induced keratin 8 phosphorylation and reorganization: Changes of PP2A expression by interaction with alpha4 and caveolin-1 in lung cancer cells.
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac in X-linked Opitz syndrome.
Title: MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
alpha4 is an important regulatory molecule of apoptosis and Bcl-xL phosphorylation induced by BCR crosslinking.
Title: Dominant negative form of alpha4 inhibits the BCR crosslinking-induced phosphorylation of Bcl-xL and apoptosis in an immature B cell line WEHI-231.
the alpha4 N-terminus binding to endogenous PP2Ac and PABP, and the C-terminus to EDD, is reported.
Title: Progestin-inducible EDD E3 ubiquitin ligase binds to α4 phosphoprotein to regulate ubiquitination and degradation of protein phosphatase PP2Ac.
A potential important role of alpha4 in control of cell migration and/or invasion via the regulation of E-cadherin expression in bladder urothelial carcinoma.
Title: α4 contributes to bladder urothelial carcinoma cell invasion and/or metastasis via regulation of E-cadherin and is a predictor of outcome in bladder urothelial carcinoma patients.
The structure of alpha45 reveals two distinct surfaces, one that can interact with a negatively charged surface, which is present on PP2A, and one that interacts with the Bbox1 domain of MID1.
Title: NMR studies of the C-terminus of alpha4 reveal possible mechanism of its interaction with MID1 and protein phosphatase 2A.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MedGen: C1845446 OMIM: 300472 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48563 (e-PCR)
- UniSTS:31003

SHGC-2602 (e-PCR)
- UniSTS:55968

A006Y20 (e-PCR)
- UniSTS:27572

AF020140 (e-PCR)
- UniSTS:42425

G59889 (e-PCR)
- UniSTS:137171

RH12518 (e-PCR)
- UniSTS:78828

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2A binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase regulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell activation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stress-activated MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microtubule-based movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to interleukin-1	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to tumor necrosis factor	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: immunoglobulin-binding protein 1

Names: B cell signal transduction molecule alpha 4; CD79a-binding protein 1; bA351K23.1 (immunoglobulin binding protein 1 (CD79A) ); immunoglobulin (CD79A) binding protein 1; protein alpha-4; protein phosphatase 2/4/6 regulatory subunit; protein phosphatase 2A, regulatory subunit alpha-4; renal carcinoma antigen NY-REN-16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012084.1 RefSeqGene

Range

4980..37857

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001370192.1 → NP_001357121.1 immunoglobulin-binding protein 1 isoform 1

Status: REVIEWED

Source sequence(s)

AL139111, AL158141

Consensus CDS

CCDS14396.1

UniProtKB/Swiss-Prot

P78318, Q8TAB2

Conserved Domains (1) summary

pfam04177
Location:12 → 328

TAP42; TAP42-like family
NM_001370193.1 → NP_001357122.1 immunoglobulin-binding protein 1 isoform 1

Status: REVIEWED

Source sequence(s)

AL139111, AL158141

Consensus CDS

CCDS14396.1

UniProtKB/Swiss-Prot

P78318, Q8TAB2

Conserved Domains (1) summary

pfam04177
Location:12 → 328

TAP42; TAP42-like family
NM_001370194.1 → NP_001357123.1 immunoglobulin-binding protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AL139111, AL158141

Conserved Domains (1) summary

pfam04177
Location:12 → 236

TAP42; TAP42-like family
NM_001551.3 → NP_001542.1 immunoglobulin-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_001542.1

Status: REVIEWED

Source sequence(s)

AL158141, BC004137

Consensus CDS

CCDS14396.1

UniProtKB/Swiss-Prot

P78318, Q8TAB2

Related

ENSP00000348784.4, ENST00000356413.5

Conserved Domains (1) summary

pfam04177
Location:12 → 328

TAP42; TAP42-like family