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Aliases for AMBP Gene

Aliases for AMBP Gene

  • Alpha-1-Microglobulin/Bikunin Precursor 2 3 5
  • Complex-Forming Glycoprotein Heterogeneous In Charge 2 3
  • Inter-Alpha-Trypsin Inhibitor Light Chain 2 3
  • Growth-Inhibiting Protein 19 2 3
  • Uronic-Acid-Rich Protein 2 3
  • Protein HC 2 3
  • Trypstatin 2 3
  • Uristatin 2 3
  • Bikunin 2 3
  • ITIL 3 4
  • HCP 3 4
  • Protein AMBP 3
  • IATIL 3
  • ITILC 3
  • EDC1 3
  • HI30 3
  • A1M 3
  • UTI 3
  • ITI 3

External Ids for AMBP Gene

Previous HGNC Symbols for AMBP Gene

  • ITI
  • ITIL

Previous GeneCards Identifiers for AMBP Gene

  • GC09M107620
  • GC09M108554
  • GC09M110276
  • GC09M112198
  • GC09M113901
  • GC09M115862
  • GC09M116823
  • GC09M086428

Summaries for AMBP Gene

Entrez Gene Summary for AMBP Gene

  • 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 regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for AMBP Gene

AMBP (Alpha-1-Microglobulin/Bikunin Precursor) is a Protein Coding gene. Diseases associated with AMBP include Kidney Disease and Vesicoureteral Reflux 1. Among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and serine-type endopeptidase inhibitor activity. An important paralog of this gene is SPINT1.

UniProtKB/Swiss-Prot for AMBP Gene

  • Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization.

  • Trypstatin is a trypsin inhibitor.

Gene Wiki entry for AMBP Gene

Additional gene information for AMBP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMBP Gene

Genomics for AMBP Gene

GeneHancer (GH) Regulatory Elements for AMBP Gene

Promoters and enhancers for AMBP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J114077 Promoter/Enhancer 1.5 EPDnew ENCODE 658.7 +0.2 156 1.5 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 NFKBIZ AMBP COL27A1 KIF12 GC09P114791
GH09J114314 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE 19.8 -236.8 -236755 0.5 FOXA2 TAF1 MAX RAD21 YY1 EGR1 HNF4G ZNF189 RXRA HLF ORM1 AMBP ORM2 LOC105376224 MIR455
GH09J113992 Enhancer 1.1 FANTOM5 Ensembl ENCODE 15.1 +85.6 85623 1.1 RXRA MAX REST RAD21 FOXA1 GABPA NR2F2 YY1 SP1 JUND ORM2 AMBP ORM1 COL27A1 GC09P114791 ZNF618
GH09J113964 Enhancer 1.7 VISTA UCNEbase FANTOM5 ENCODE 1.8 +112.5 112475 3.7 FOXA2 MAX ZNF644 RAD21 YY1 EGR1 HNF4G RXRA REST FOXA1 COL27A1 AMBP GC09P114791 ZNF618
GH09J114080 Enhancer 1 ENCODE 0.7 -3.3 -3296 3.3 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 SLC30A9 COL27A1 KIF12 AMBP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMBP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMBP gene promoter:
  • Egr-1
  • PPAR-gamma2
  • PPAR-gamma1
  • Pax-2
  • NF-1
  • NF-1/L
  • Pax-2a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for AMBP Gene

Genomic Locations for AMBP Gene
chr9:114,060,127-114,078,472
(GRCh38/hg38)
Size:
18,346 bases
Orientation:
Minus strand
chr9:116,822,407-116,840,752
(GRCh37/hg19)
Size:
18,346 bases
Orientation:
Minus strand

Genomic View for AMBP Gene

Genes around AMBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AMBP Gene

Proteins for AMBP Gene

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

    Protein Symbol:
    P02760-AMBP_HUMAN
    Recommended name:
    Protein AMBP
    Protein Accession:
    P02760
    Secondary Accessions:
    • P00977
    • P02759
    • P78491
    • Q2TU33
    • Q5TBD7
    • Q9UC58
    • Q9UDI8

    Protein attributes for AMBP Gene

    Size:
    352 amino acids
    Molecular mass:
    38999 Da
    Quaternary structure:
    • I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (H1, H2 or H3) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of H1, H2 and bikunin, inter-alpha-like inhibitor (I-alpha-LI) of H2 and bikunin, and pre-alpha-inhibitor (P-alpha-I) of H3 and bikunin. Alpha-1-microglobulin occurs as a monomer and also in complexes with IgA and albumin. Alpha-1-microglobulin interacts with FN1. Trypstatin is a monomer and also occurs as a complex with tryptase in mast cells (By similarity). Alpha-1-microglobulin and bikunin interact (via SH3 domain) with HEV ORF3 protein.
    Miscellaneous:
    • In vitro, the first twelve residues of the amino end of the inhibitor appear to have a reactive site capable of inhibiting the activity of a number of enzymes. Its in vivo function is not known.

    Three dimensional structures from OCA and Proteopedia for AMBP Gene

neXtProt entry for AMBP Gene

Post-translational modifications for AMBP Gene

  • The precursor is proteolytically processed into separately functioning proteins.
  • 3-hydroxykynurenine, an oxidized tryptophan metabolite that is common in biological fluids, reacts with Cys-53, Lys-111, Lys-137, and Lys-149 to form heterogeneous polycyclic chromophores including hydroxanthommatin. The reaction by alpha-1-microglobulin is autocatalytic; the human protein forms chromophore even when expressed in insect and bacterial cells. The chromophore can react with accessible cysteines forming non-reducible thioether cross-links with other molecules of alpha-1-microglobulin or with other proteins such as Ig alpha-1 chain C region Cys-352.
  • Heavy chains are interlinked with bikunin via a chondroitin 4-sulfate bridge to the their C-terminal aspartate.
  • N- and O-glycosylated. N-glycan heterogeneity at Asn-115: Hex5HexNAc4 (major), Hex6HexNAc5 (minor) and dHex1Hex6HexNAc5 (minor). N-glycan at Asn-250: Hex5HexNAc4. O-linkage of the glycosaminoglycan, chondroitin sulfate, at Ser-215 allows cross-linking between the three polypeptide chains.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt
  • Glycosylation from GlyConnect
    • AMBP_HUMAN (21)

Other Protein References for AMBP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMBP Gene

Domains & Families for AMBP Gene

Gene Families for AMBP Gene

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

Suggested Antigen Peptide Sequences for AMBP Gene

Graphical View of Domain Structure for InterPro Entry

P02760

UniProtKB/Swiss-Prot:

AMBP_HUMAN :
  • In the N-terminal section; belongs to the calycin superfamily. Lipocalin family.
Family:
  • In the N-terminal section; belongs to the calycin superfamily. Lipocalin family.
genes like me logo Genes that share domains with AMBP: view

Function for AMBP Gene

Molecular function for AMBP Gene

UniProtKB/Swiss-Prot Function:
Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization.
UniProtKB/Swiss-Prot Function:
Trypstatin is a trypsin inhibitor.
GENATLAS Biochemistry:
alpha-1-microglobulin (HC,lipocalin family Kernel group),expressed in plasma either as a free form or in covalent complexes with albumine IgA and bikunin precursor (ITIL),complexing with ITIH1,ITIH2, ITIH3 or ITIH4,to form alpha type inhibitor (respectively inter- and pre-)

Phenotypes From GWAS Catalog for AMBP Gene

Gene Ontology (GO) - Molecular Function for AMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS 12817471
GO:0005515 protein binding IPI 16140784
GO:0019855 calcium channel inhibitor activity NAS 12817471
GO:0019862 IgA binding IDA 11877257
GO:0020037 heme binding IDA 11877257
genes like me logo Genes that share ontologies with AMBP: view
genes like me logo Genes that share phenotypes with AMBP: view

Animal Models for AMBP Gene

MGI Knock Outs for AMBP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • R&D Systems cDNA Clones for AMBP (alpha 1-Microglobulin)

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AMBP Gene

Localization for AMBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMBP 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 AMBP gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 2
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA,IEA 16502470
GO:0005886 plasma membrane IDA 12817471
GO:0009986 cell surface IEA --
GO:0031012 extracellular matrix IDA 27559042
genes like me logo Genes that share ontologies with AMBP: view

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

Pathways & Interactions for AMBP Gene

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

Pathways by source for AMBP Gene

Gene Ontology (GO) - Biological Process for AMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
GO:0007155 cell adhesion NAS 9570066
GO:0007565 female pregnancy NAS 10097787
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with AMBP: view

No data available for SIGNOR curated interactions for AMBP Gene

Drugs & Compounds for AMBP Gene

(32) Drugs for AMBP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Human Serum Albumin Approved Pharma Target 0
heme Pharma Agonist 0

(31) Additional Compounds for AMBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AMBP: view

Transcripts for AMBP Gene

mRNA/cDNA for AMBP Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(416) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMBP Gene

Alpha-1-microglobulin/bikunin precursor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • R&D Systems cDNA Clones for AMBP (alpha 1-Microglobulin)

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

No ASD Table

Relevant External Links for AMBP Gene

GeneLoc Exon Structure for
AMBP
ECgene alternative splicing isoforms for
AMBP

Expression for AMBP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x51.8).

Protein differential expression in normal tissues from HIPED for AMBP Gene

This gene is overexpressed in Urine (37.9), Serum (8.9), and Synovial fluid (8.3).

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



Protein tissue co-expression partners for AMBP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMBP Gene:

AMBP

SOURCE GeneReport for Unigene cluster for AMBP Gene:

Hs.436911

mRNA Expression by UniProt/SwissProt for AMBP Gene:

P02760-AMBP_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma. Alpha-1-microglobulin occurs in many physiological fluids including plasma, urine, and cerebrospinal fluid. Inter-alpha-trypsin inhibitor is present in plasma and urine.

Evidence on tissue expression from TISSUES for AMBP Gene

  • Liver(5)
  • Urine(4.5)
  • Bone marrow(4)
  • Kidney(2.7)
  • Blood(2.6)
  • Heart(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with AMBP: view

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

Orthologs for AMBP Gene

This gene was present in the common ancestor of animals.

Orthologs for AMBP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMBP 34 33
  • 99.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AMBP 34 33
  • 81.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AMBP 34 33
  • 81.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ambp 33
  • 79.32 (n)
mouse
(Mus musculus)
Mammalia Ambp 16 34 33
  • 79.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMBP 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMBP 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMBP 34 33
  • 64.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 34 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 25 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 22 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ambp 33
  • 62.96 (n)
MGC76314 33
African clawed frog
(Xenopus laevis)
Amphibia ambp-prov 33
zebrafish
(Danio rerio)
Actinopterygii ambp 34 33
  • 56 (n)
OneToOne
zgc66321 33
worm
(Caenorhabditis elegans)
Secernentea mec-9 34
  • 7 (a)
ManyToMany
F22E12.1 34
  • 6 (a)
ManyToMany
ZK287.4 34
  • 5 (a)
ManyToMany
mec-1 34
  • 4 (a)
ManyToMany
Species where no ortholog for AMBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for AMBP Gene

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

Paralogs for AMBP Gene

(5) SIMAP similar genes for AMBP Gene using alignment to 3 proteins:

  • AMBP_HUMAN
  • S4R3Y4_HUMAN
  • S4R471_HUMAN
genes like me logo Genes that share paralogs with AMBP: view

Variants for AMBP Gene

Sequence variations from dbSNP and Humsavar for AMBP Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000042054 -- 114,069,530(-) C/G intron_variant
rs1000236290 -- 114,062,070(-) T/C intron_variant
rs1000608576 -- 114,065,352(-) G/A intron_variant
rs1000906762 -- 114,076,838(-) T/C intron_variant
rs1000961170 -- 114,065,104(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv528822 CNV gain 19592680
nsv471319 CNV gain 18288195
esv996359 CNV deletion 20482838
esv989178 CNV deletion 20482838
esv3621549 CNV gain 21293372
esv2761285 CNV gain 21179565
dgv945n27 CNV gain 19166990
dgv33e196 CNV duplication 17116639
dgv12855n54 CNV gain 21841781

Variation tolerance for AMBP Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMBP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMBP Gene

MalaCards: The human disease database

(7) MalaCards diseases for AMBP Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AMBP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AMBP: view

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

Publications for AMBP Gene

  1. Structure of the human alpha 1-microglobulin-bikunin gene. (PMID: 1708673) Vetr H … Gebhard W (Biological chemistry Hoppe-Seyler 1990) 2 3 4 22 58
  2. The 41-amino-acid C-terminal region of the hepatitis E virus ORF3 protein interacts with bikunin, a kunitz-type serine protease inhibitor. (PMID: 16140784) Tyagi S … Lal SK (Journal of virology 2005) 3 4 22 58
  3. Chondroitin sulphate covalently cross-links the three polypeptide chains of inter-alpha-trypsin inhibitor. (PMID: 7513643) Morelle W … Mizon J (European journal of biochemistry 1994) 3 4 22 58
  4. Presence of the protein-glycosaminoglycan-protein covalent cross-link in the inter-alpha-inhibitor-related proteinase inhibitor heavy chain 2/bikunin. (PMID: 7682553) Enghild JJ … Hefta SA (The Journal of biological chemistry 1993) 3 4 22 58
  5. Homologous chromosomal locations of the four genes for inter-alpha-inhibitor and pre-alpha-inhibitor family in human and mouse: assignment of the ancestral gene for the lipocalin superfamily. (PMID: 1385302) Salier JP … Mattei MG (Genomics 1992) 2 3 22 58

Products for AMBP Gene

Sources for AMBP Gene

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