The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008] See more...

Aliases for A1BG Gene

Aliases for A1BG Gene

  • Alpha-1-B Glycoprotein 2 3 4 5
  • Alpha-1B-Glycoprotein 3 4
  • Epididymis Secretory Sperm Binding Protein Li 163pA 3
  • HEL-S-163pA 3
  • HYST2477 3
  • A1BG 5
  • A1B 3
  • ABG 3
  • GAB 3

External Ids for A1BG Gene

Previous GeneCards Identifiers for A1BG Gene

  • GC19M059755
  • GC19M059310
  • GC19M063532
  • GC19M063548
  • GC19M058858
  • GC19M055168

Summaries for A1BG Gene

Entrez Gene Summary for A1BG Gene

  • The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for A1BG Gene

A1BG (Alpha-1-B Glycoprotein) is a Protein Coding gene. Diseases associated with A1BG include Pediatric Meningioma and Acute Hemorrhagic Encephalitis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Innate Immune System. An important paralog of this gene is IGSF1.

Additional gene information for A1BG Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for A1BG Gene

Genomics for A1BG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for A1BG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around A1BG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for A1BG

Top Transcription factor binding sites by QIAGEN in the A1BG gene promoter:
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx5-1
  • Pbx1a
  • RFX1
  • RORalpha1
  • STAT3
  • TBP

Genomic Locations for A1BG Gene

Genomic Locations for A1BG Gene
chr19:58,345,178-58,353,492
(GRCh38/hg38)
Size:
8,315 bases
Orientation:
Minus strand
chr19:58,856,544-58,864,865
(GRCh37/hg19)
Size:
8,322 bases
Orientation:
Minus strand

Genomic View for A1BG Gene

Genes around A1BG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
A1BG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for A1BG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for A1BG Gene

Proteins for A1BG Gene

  • Protein details for A1BG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04217-A1BG_HUMAN
    Recommended name:
    Alpha-1B-glycoprotein
    Protein Accession:
    P04217
    Secondary Accessions:
    • A8K052
    • Q68CK0
    • Q8IYJ6
    • Q96P39

    Protein attributes for A1BG Gene

    Size:
    495 amino acids
    Molecular mass:
    54254 Da
    Quaternary structure:
    • Interacts with CRISP3.

    Alternative splice isoforms for A1BG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for A1BG Gene

Post-translational modifications for A1BG Gene

  • Glycosylation at Asn44, Asn179, Asn363, and Asn371
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • A1BG_HUMAN (780)

Other Protein References for A1BG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for A1BG Gene

Domains & Families for A1BG Gene

Gene Families for A1BG Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for A1BG Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
ProtoNet:

Suggested Antigen Peptide Sequences for A1BG Gene

GenScript: Design optimal peptide antigens:
  • Alpha-1-B glycoprotein (A1BG_HUMAN)
  • cDNA FLJ42722 fis, clone BRAMY4000277, highly similar to Alpha-1B-glycoprotein (B3KWB5_HUMAN)
genes like me logo Genes that share domains with A1BG: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for A1BG Gene

Function for A1BG Gene

Molecular function for A1BG Gene

GENATLAS Biochemistry:
glycoprotein,alpha-1-B-

Phenotypes From GWAS Catalog for A1BG Gene

Gene Ontology (GO) - Molecular Function for A1BG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with A1BG: view
genes like me logo Genes that share phenotypes with A1BG: view

Animal Model Products

  • Taconic Biosciences Mouse Models for A1BG

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A1BG

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for A1BG Gene

Localization for A1BG Gene

Subcellular locations from UniProtKB/Swiss-Prot for A1BG Gene

Secreted.

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 A1BG gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for A1BG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space HDA 16502470
GO:0031093 platelet alpha granule lumen TAS --
GO:0034774 secretory granule lumen TAS --
GO:0062023 collagen-containing extracellular matrix HDA 27559042
genes like me logo Genes that share ontologies with A1BG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for A1BG Gene

Pathways & Interactions for A1BG Gene

genes like me logo Genes that share pathways with A1BG: view

Gene Ontology (GO) - Biological Process for A1BG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0008150 biological_process ND --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with A1BG: view

No data available for SIGNOR curated interactions for A1BG Gene

Drugs & Compounds for A1BG Gene

(5) Drugs for A1BG Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
2'-Deoxyguanosine 5'-monophosphate Experimental Pharma Target 0
Cysteic acid Experimental Pharma Target 0
genes like me logo Genes that share compounds with A1BG: view

Transcripts for A1BG Gene

mRNA/cDNA for A1BG Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 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 A1BG

Alternative Splicing Database (ASD) splice patterns (SP) for A1BG Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: - -
SP2:
SP3:

Relevant External Links for A1BG Gene

GeneLoc Exon Structure for
A1BG

Expression for A1BG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for A1BG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for A1BG Gene

This gene is overexpressed in Liver (x45.8).

Protein differential expression in normal tissues from HIPED for A1BG Gene

This gene is overexpressed in Plasma (14.1), Serum (10.1), Synovial fluid (9.6), and Monocytes (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for A1BG Gene



Protein tissue co-expression partners for A1BG Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for A1BG

SOURCE GeneReport for Unigene cluster for A1BG Gene:

Hs.529161

mRNA Expression by UniProt/SwissProt for A1BG Gene:

P04217-A1BG_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for A1BG Gene

  • Liver(4.9)
  • Nervous system(4.5)
  • Bone marrow(4.3)
  • Heart(2.8)
  • Blood(2.6)
  • Kidney(2.5)
  • Muscle(2.4)
  • Intestine(2.4)
  • Lung(2.3)
  • Skin(2.2)
  • Pancreas(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with A1BG: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for A1BG Gene

Orthologs for A1BG Gene

This gene was present in the common ancestor of chordates.

Orthologs for A1BG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia A1BG 30 31
  • 98.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia A1BG 30 31
  • 74.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia A1BG 30 31
  • 73.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia A1bg 30 17 31
  • 60.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia A1bg 30
  • 58.64 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 34 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 14 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 21 (a)
OneToMany
Species where no ortholog for A1BG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for A1BG Gene

ENSEMBL:
Gene Tree for A1BG (if available)
TreeFam:
Gene Tree for A1BG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for A1BG: view image

Paralogs for A1BG Gene

Variants for A1BG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for A1BG Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs2241788 - p.His395Arg
rs893184 - p.His52Arg

Additional dbSNP identifiers (rs#s) for A1BG Gene

Structural Variations from Database of Genomic Variants (DGV) for A1BG Gene

Variant ID Type Subtype PubMed ID
nsv1058109 CNV gain 25217958
nsv515731 CNV gain+loss 19592680
nsv817878 CNV loss 17921354
nsv833887 CNV loss 17160897
nsv833888 CNV loss 17160897

Variation tolerance for A1BG Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for A1BG Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
A1BG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for A1BG Gene

Disorders for A1BG Gene

MalaCards: The human disease database

(3) MalaCards diseases for A1BG Gene - From: DISEASES

Disorder Aliases PubMed IDs
pediatric meningioma
  • childhood meningioma
acute hemorrhagic encephalitis
granulomatous angiitis
  • vasculitis, central nervous system
- elite association - COSMIC cancer census association via MalaCards
Search A1BG in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with A1BG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for A1BG Gene

Publications for A1BG Gene

  1. Cysteine-rich secretory protein 3 is a ligand of alpha1B-glycoprotein in human plasma. (PMID: 15461460) Udby L … Kjeldsen L (Biochemistry 2004) 3 4 23
  2. Human CRISP-3 binds serum alpha(1)B-glycoprotein across species. (PMID: 20116414) Udby L … Borregaard N (Biochimica et biophysica acta 2010) 3 23
  3. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PMID: 14760718) Bunkenborg J … Wiśniewski JR (Proteomics 2004) 3 4

Products for A1BG Gene

Sources for A1BG Gene