AMBP (alpha-1-microglobulin/bikunin precursor)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 259
Gene name Alpha-1-microglobulin/bikunin precursor
Gene symbol AMBP
Synonyms (NCBI Gene)
A1MEDC1HCPHI30IATILITIITILITILCUTI
Chromosome 9
Chromosome location 9q32
Summary This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT779531 hsa-miR-193a-3p CLIP-seq
MIRT779532 hsa-miR-193b CLIP-seq
MIRT779533 hsa-miR-3187-3p CLIP-seq
MIRT779534 hsa-miR-345 CLIP-seq
MIRT779535 hsa-miR-4529-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (52)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 10480954, 16873769, 25301953
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity ISS
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 12817471
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176870 453 ENSG00000106927
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02760
Protein name Protein AMBP (Protein HC) [Cleaved into: Alpha-1-microglobulin (EC 1.6.2.-) (Alpha-1 microglycoprotein) (Complex-forming glycoprotein heterogeneous in charge); Inter-alpha-trypsin inhibitor light chain (ITI-LC) (Bikunin) (EDC1) (HI-30) (Uronic-acid-rich p
Protein function [Alpha-1-microglobulin]: Antioxidant and tissue repair protein with reductase, heme-binding and radical-scavenging activities. Removes and protects against harmful oxidants and repairs macromolecules in intravascular and extravascular spaces and
PDB 1BIK , 3QKG , 4ES7 , 4U30 , 6EJ7 , 6EJ8 , 6EJ9 , 6EJA , 6EJB , 6EJC , 6EJD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00061 Lipocalin 41 → 186 Lipocalin / cytosolic fatty-acid binding protein family Domain
PF00014 Kunitz_BPTI 230 → 282 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF00014 Kunitz_BPTI 286 → 338 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
Tissue specificity TISSUE SPECIFICITY: [Alpha-1-microglobulin]: Expressed by the liver and secreted in plasma. Occurs in many physiological fluids including plasma, urine, and cerebrospinal fluid (PubMed:11877257). Expressed in epidermal keratinocytes, in dermis and epiderm
Sequence
Sequence length 352
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Scavenging of heme from plasma
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, TRANSITIONAL CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (100)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 28885000, 8963945
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 16539735
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 22163325 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 34206377 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial fibrillation familial 1 Atrial fibrillation Pubtator 34050710 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 16452202
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22238264
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 9738923 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29404674
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 12872365, 15350365, 29506471
★★★★★
★☆☆☆☆
Found in Text Mining only