A1BG (alpha-1-B glycoprotein)

Gene

• Entrez ID: 1
• Gene name: Alpha-1-B glycoprotein
• Gene symbol: A1BG
• Synonyms (NCBI Gene): A1B, ABG, GAB, HYST2477
• Chromosome: 19
• Chromosome location: 19q13.43
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT683088	hsa-miR-141-3p	HITS-CLIP	23706177
MIRT683087	hsa-miR-200a-3p	HITS-CLIP	23706177
MIRT683086	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT683085	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT683084	hsa-miR-6742-3p	HITS-CLIP	23706177
MIRT683083	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT683082	hsa-miR-4772-3p	HITS-CLIP	23706177
MIRT683081	hsa-miR-4793-3p	HITS-CLIP	23706177
MIRT683080	hsa-miR-6776-5p	HITS-CLIP	23706177
MIRT683079	hsa-miR-4645-3p	HITS-CLIP	23706177
MIRT683078	hsa-miR-661	HITS-CLIP	23706177
MIRT683077	hsa-miR-1288-3p	HITS-CLIP	23706177
MIRT683076	hsa-miR-542-3p	HITS-CLIP	23706177
MIRT683075	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT683074	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT683073	hsa-miR-7703	HITS-CLIP	23706177
MIRT683072	hsa-miR-1262	HITS-CLIP	23706177
MIRT683071	hsa-miR-4701-3p	HITS-CLIP	23706177
MIRT683070	hsa-miR-6736-5p	HITS-CLIP	23706177
MIRT683069	hsa-miR-1273g-3p	HITS-CLIP	23706177
MIRT732287	hsa-miR-5582-5p	Luciferase reporter assay, qRT-PCR, Western blot	27475256
MIRT732287	hsa-miR-5582-5p	Luciferase reporter assay, qRT-PCR, Western blot	27475256
MIRT732287	hsa-miR-5582-5p	Luciferase reporter assay, qRT-PCR, Western blot	27475256
MIRT732287	hsa-miR-5582-5p	Luciferase reporter assay, qRT-PCR, Western blot	27475256
MIRT683088	hsa-miR-141-3p	HITS-CLIP	23706177
MIRT683087	hsa-miR-200a-3p	HITS-CLIP	23706177
MIRT683086	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT683085	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT683084	hsa-miR-6742-3p	HITS-CLIP	23706177
MIRT683083	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT683082	hsa-miR-4772-3p	HITS-CLIP	23706177
MIRT683081	hsa-miR-4793-3p	HITS-CLIP	23706177
MIRT683080	hsa-miR-6776-5p	HITS-CLIP	23706177
MIRT683079	hsa-miR-4645-3p	HITS-CLIP	23706177
MIRT683078	hsa-miR-661	HITS-CLIP	23706177
MIRT683077	hsa-miR-1288-3p	HITS-CLIP	23706177
MIRT683076	hsa-miR-542-3p	HITS-CLIP	23706177
MIRT683075	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT683074	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT683073	hsa-miR-7703	HITS-CLIP	23706177
MIRT683072	hsa-miR-1262	HITS-CLIP	23706177
MIRT683071	hsa-miR-4701-3p	HITS-CLIP	23706177
MIRT683070	hsa-miR-6736-5p	HITS-CLIP	23706177
MIRT683069	hsa-miR-1273g-3p	HITS-CLIP	23706177
MIRT1923096	hsa-miR-3126-5p	CLIP-seq
MIRT1923097	hsa-miR-4419a	CLIP-seq
MIRT1923098	hsa-miR-4510	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002764	Process	Immune response-regulating signaling pathway	IBA
GO:0005576	Component	Extracellular region	HDA	27068509, 27559042
GO:0005576	Component	Extracellular region	IDA	3458201
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005886	Component	Plasma membrane	IBA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 138670
• HGNC: 5
• e!Ensembl: ENSG00000121410

Protein

• UniProt ID: P04217
• Protein name: Alpha-1B-glycoprotein (Alpha-1-B glycoprotein)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13895	Ig_2	209 → 301	Immunoglobulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQL
  FKNGVAQEPVHLDSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPW
  LSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVPEAQEDVEATFPVHQPGNY
  SCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVD
  FQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELI
  LSDETLPAPEFSPEPESGRALRLRCLAPLEGARFALVREDRGGRRVHRFQSPAGTEALFE
  LHNISVADSANYSCVYVDLKPPFGGSAPSERLELHVDGPPPRPQLRATWSGAVLAGRDAV
  LRCEGPIPDVTFELLREGETKAVKTVRTPGAAANLELIFVGPQHAGNYRCRYRSWVPHTF
  ESELSDPVELLVAES

• Sequence length: 495

Pathways

Reactome:

Platelet degranulation
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18706098		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22232349	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18973555		★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	31708865		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30770760		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	30770760	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23418544	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36344648	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	10542268	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	31077404		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32023884	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	26745065	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29551575		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21360684		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22678011	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	18850380	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31708865		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26745065	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24096582, 28614770, 30669455		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24096582	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28614770, 33610185	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24096582, 28614770, 30669455		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24276018	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	29424599		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	32575434	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29424599		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29424599		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23284758	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	31708865		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28901666		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18706098, 33099939	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	25821032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	31708865		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	31029401		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17518487	Associate	★☆☆☆☆ Found in Text Mining only