A1BG alpha-1-B glycoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: A1BGprovided by HGNC
Official Full Name: alpha-1-B glycoproteinprovided by HGNC
Primary source: HGNC:HGNC:5
See related: Ensembl:ENSG00000121410 MIM:138670; AllianceGenome:HGNC:5
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: A1B; ABG; GAB; HYST2477
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 19q13.43

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (58345183..58353492, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (61441599..61449907, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (58856549..58864858, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

cardiovascular outcomes may differ based on A1BG genotype, and antihypertensive treatment strategy.
Title: Pharmacogenomic association of nonsynonymous SNPs in SIGLEC12, A1BG, and the selectin region and cardiovascular outcomes.
Data indicate that five important proteins, vimentin, gelsolin, alpha 2 HS glycoprotein (AHSG), glial fibrillary acidic protein (GFAP), and alpha1B-glycoprotein (A1BG) were expressed higher in Rheumatoid arthritis (RA) synovial fluid than non-RA samples.
Title: Identification of novel autoantigen in the synovial fluid of rheumatoid arthritis patients using an immunoproteomics approach.
Overexpression of serum A1BG is associated with non-small cell lung cancer.
Title: Integrative proteomics and tissue microarray profiling indicate the association between overexpressed serum proteins and non-small cell lung cancer.
an 11-fold upregulated 13.8 kDa fragment of alpha 1-B glycoprotein (A1BG) as a biomarker for steroid-resistant nephrotic syndrome
Title: Discovery and initial validation of α 1-B glycoprotein fragmentation as a differential urinary biomarker in pediatric steroid-resistant nephrotic syndrome.
Complex binding of CRISP proteins by A1BG and other proteins may interfere with the detection and function of these proteins.
Title: Human CRISP-3 binds serum alpha(1)B-glycoprotein across species.
MMP-9, DJ-1 and A1BG proteins are overexpressed in pancreatic juice from pancreatic ductal adenocarcinoma
Title: Proteomic analysis identifies MMP-9, DJ-1 and A1BG as overexpressed proteins in pancreatic juice from pancreatic ductal adenocarcinoma patients.
A1BG-cysteine-rich secretory protein 3 complex displays a similar function in protecting the circulation from a potentially harmful effect of free CRISP-3
Title: Cysteine-rich secretory protein 3 is a ligand of alpha1B-glycoprotein in human plasma.

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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

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

D7S2067E (e-PCR)
- UniSTS:151120

D10S16 (e-PCR)
- UniSTS:155756

SHGC-67307 (e-PCR)
- UniSTS:89991

D16S325 (e-PCR)
- UniSTS:147089

RH65092 (e-PCR)
- UniSTS:10673

G59506 (e-PCR)
- UniSTS:136670

WI-16009 (e-PCR)
- UniSTS:52209

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in immune response-regulating signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: alpha-1B-glycoprotein

Names: HEL-S-163pA; epididymis secretory sperm binding protein Li 163pA

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.

mRNA and Protein(s)

NM_130786.4 → NP_570602.2 alpha-1B-glycoprotein precursor

See identical proteins and their annotated locations for NP_570602.2

Status: REVIEWED

Source sequence(s)

AB073611, AC012313, AK056201

Consensus CDS

CCDS12976.1

UniProtKB/Swiss-Prot

A8K052, P04217, Q68CK0, Q8IYJ6, Q96P39

UniProtKB/TrEMBL

V9HWD8

Related

ENSP00000263100.2, ENST00000263100.8

Conserved Domains (4) summary

cd05751
Location:401 → 493

Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

smart00410
Location:218 → 280

IG_like; Immunoglobulin like

pfam13895
Location:210 → 301

Ig_2; Immunoglobulin domain

cl11960
Location:28 → 110

Ig; Immunoglobulin domain