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Aliases for A1BG Gene

Aliases for A1BG Gene

  • Alpha-1-B Glycoprotein 2 3 4 5
  • Epididymis Secretory Sperm Binding Protein Li 163pA 3
  • Alpha-1B-Glycoprotein 3
  • HEL-S-163pA 3
  • HYST2477 3
  • 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 Amyotrophic Lateral Sclerosis 12 and Amyotrophic Lateral Sclerosis 20. Among its related pathways are Innate Immune System and Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is IGSF1.

Additional gene information for A1BG Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for A1BG Gene

Genomics for A1BG Gene

GeneHancer (GH) Regulatory Elements for A1BG Gene

Promoters and enhancers for A1BG Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J058346 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 668.1 +5.9 5924 1.7 HDGF PKNOX1 ATF1 SIN3A ZNF2 GLIS2 ZNF207 ZNF143 ATF7 SP3 A1BG A1BG-AS1 TRIM28 ZNF548 ZNF417 ZNF274 ZNF446 ZNF134 ZSCAN22 RPS5
GH19J058353 Promoter 1.1 EPDnew 662.8 +0.0 16 0.1 ELF3 FOXA2 DMAP1 RAD21 RARA YY1 EGR1 CREM THAP11 RXRA A1BG ENSG00000279611 A1BG-AS1 ENSG00000268230
GH19J058325 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.2 +26.6 26628 3.6 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZSCAN22 LOC105372480 PIR44424 ZNF134 ZNF606 ZNF417 ZNF17 ZNF446 TRIM28 ZNF549
GH19J058361 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.2 -8.9 -8906 2.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B LOC105372483 ENSG00000268230 RNA5SP473 ZNF497 TRIM28 ZNF548 ZNF417 ZNF134 ZSCAN22 ZNF274
GH19J058400 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.2 -48.0 -47955 2.2 HDGF PKNOX1 ARID4B NEUROD1 SIN3A YY1 SLC30A9 POLR2B E2F8 ZNF207 ZNF584 GC19P058413 LINC02560 ZNF132 TRIM28 ZNF606 ZNF549 ENSG00000232098 MZF1 ZNF417
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for A1BG Gene

Genomic Locations for A1BG Gene
8,322 bases
Minus strand
8,322 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K052
    • Q68CK0
    • Q8IYJ6
    • Q96P39

    Protein attributes for A1BG Gene

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

    Alternative splice isoforms for A1BG Gene


neXtProt entry for A1BG Gene

Post-translational modifications for A1BG Gene

  • Glycosylation at posLast=371371, posLast=363363, Asn179, and posLast=4444
  • 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

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

Suggested Antigen Peptide Sequences for A1BG Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for A1BG Gene

Molecular function for A1BG Gene

GENATLAS Biochemistry:

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

Clone Products

  • R&D Systems cDNA Clones for A1BG (alpha 1B-Glycoprotein)

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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


Subcellular locations from

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
endoplasmic reticulum 2
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for A1BG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 16502470
GO:0031012 extracellular matrix IDA 27559042
GO:0031093 platelet alpha granule lumen TAS --
GO:0034774 secretory granule lumen TAS --
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

(4) Drugs for A1BG Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Zinc Approved, Investigational Pharma Target 2430
2'-Deoxyguanosine 5'-monophosphate Experimental Pharma Target 0
Cysteinesulfonic 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

Unigene Clusters for A1BG Gene

Alpha-1-B glycoprotein:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for A1BG (alpha 1B-Glycoprotein)

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

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

Relevant External Links for A1BG Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for A1BG Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of A1BG Gene:


SOURCE GeneReport for Unigene cluster for A1BG Gene:


mRNA Expression by UniProt/SwissProt for A1BG Gene:

Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for A1BG Gene

  • Liver(4.9)
  • Nervous system(4.5)
  • Bone marrow(4.1)
  • Blood(2.4)
  • Lung(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with A1BG: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
(Pan troglodytes)
Mammalia A1BG 34 33
  • 98.59 (n)
(Canis familiaris)
Mammalia A1BG 34 33
  • 74.7 (n)
(Bos Taurus)
Mammalia A1BG 34 33
  • 73.42 (n)
(Mus musculus)
Mammalia A1bg 16 34 33
  • 60.08 (n)
(Rattus norvegicus)
Mammalia A1bg 33
  • 58.64 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 34 (a)
-- 34
  • 27 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 14 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 21 (a)
Species where no ortholog for A1BG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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

Paralogs for A1BG Gene

Paralogs for A1BG Gene

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

Variants for A1BG Gene

Sequence variations from dbSNP and Humsavar for A1BG Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000277711 -- 58,351,766(-) G/A intron_variant
rs1001003416 -- 58,347,235(-) C/A intron_variant
rs1001109916 -- 58,347,463(-) A/C coding_sequence_variant, missense_variant
rs1001334782 -- 58,353,284(-) G/C intron_variant
rs1001651855 -- 58,350,697(-) C/T intron_variant

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

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

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

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 12
  • als12
amyotrophic lateral sclerosis 20
  • als20
middle ear disease
  • abnormality of the middle ear
amyotrophic lateral sclerosis type 14
  • amyotrophic lateral sclerosis 14 with or without frontotemporal dementia
- elite association - COSMIC cancer census association via MalaCards
Search A1BG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for A1BG

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 22 58
  2. Human CRISP-3 binds serum alpha(1)B-glycoprotein across species. (PMID: 20116414) Udby L … Borregaard N (Biochimica et biophysica acta 2010) 3 22 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 58

Products for A1BG Gene

Sources for A1BG Gene

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