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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMBP Gene

protein-coding   GIFtS: 66
GCID: GC09M116823

Alpha-1-Microglobulin/Bikunin Precursor


(Previous symbols: ITI, ITIL)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alpha-1-Microglobulin/Bikunin Precursor1 2     uristatin1 2
ITIL1 2 3 5     Uronic-Acid-Rich Protein1 2
ITI1 2 5     A1M2
HCP2 3 5     EDC12
bikunin1 2     HI302
Complex-Forming Glycoprotein Heterogeneous In Charge1 2     IATIL2
Growth-Inhibiting Protein 191 2     ITILC2
Inter-Alpha-Trypsin Inhibitor Light Chain1 2     UTI2
Protein HC1 2     Protein AMBP2
trypstatin1 2     

External Ids:    HGNC: 4531   Entrez Gene: 2592   Ensembl: ENSG000001069277   OMIM: 1768705   UniProtKB: P027603   

Export aliases for AMBP gene to outside databases

Previous GC identifers: GC09M107620 GC09M108554 GC09M110276 GC09M112198 GC09M113901 GC09M115862 GC09M086428


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 acute kidney failure, and autoimmune disease of central nervous system, and among its related super-pathways are Scavenging of Heme from Plasma and Cell adhesion Cell-matrix glycoconjugates. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protein homodimerization activity. An important paralog of this gene is SPINT2.

UniProtKB/Swiss-Prot: AMBP_HUMAN, P02760
Function: Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits
calcium oxalate crystallization
Function: Trypstatin is a trypsin inhibitor (By similarity)

Gene Wiki entry for AMBP (Alpha-1-microglobulin/bikunin precursor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMBP gene promoter:
         NF-1/L   NF-1   SREBP-1c   Egr-1   Pax-2   Pax-2a   SREBP-1b   PPAR-gamma1   SREBP-1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMBP promoter sequence
   Search SABiosciences Chromatin IP Primers for AMBP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMBP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q32-q33   Ensembl cytogenetic band:  9q32   HGNC cytogenetic band: 9q32-q33

AMBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMBP gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M116823:  view genomic region     (about GC identifiers)

Start:
116,822,407 bp from pter      End:
116,840,752 bp from pter
Size:
18,346 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AMBP_HUMAN, P02760 (See protein sequence)
Recommended Name: Protein AMBP precursor  
Size: 352 amino acids; 38999 Da
Subunit: 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
Subcellular location: Secreted
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
3 PDB 3D structures from and Proteopedia for AMBP:
1BIK (3D)        3QKG (3D)        4ES7 (3D)    
Secondary accessions: P00977 P02759 P78491 Q2TU33 Q5TBD7 Q9UC58 Q9UDI8

Explore the universe of human proteins at neXtProt for AMBP: NX_P02760

Explore proteomics data for AMBP at MOPED 

Post-translational modifications:

  • UniProtKB: The precursor is proteolytically processed into separately functioning proteins
  • UniProtKB: 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'
  • UniProtKB: Heavy chains are interlinked with bikunin via a chondroitin 4-sulfate bridge to the their C-terminal aspartate (By
    similarity)
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02760

  • AMBP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AMBP Protein Expression
    REFSEQ proteins: NP_001624.1  
    ENSEMBL proteins: 
     ENSP00000265132   ENSP00000475149   ENSP00000474859  
    Reactome Protein details: P02760
    Human Recombinant Protein Products for AMBP: 
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    Novus Biologicals AMBP Proteins
    Novus Biologicals AMBP Lysates
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    ProSpec Recombinant Protein for AMBP
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IDA12817471
    GO:0009986cell surface IEA--
    GO:0043231intracellular membrane-bounded organelle IEA--

    AMBP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR022272 Lipocalin_CS
     IPR000566 Lipocln_cytosolic_FA-bd_dom
     IPR012674 Calycin
     IPR011038 Calycin-like
     IPR002968 A1-microglobln

    Graphical View of Domain Structure for InterPro Entry P02760

    ProtoNet protein and cluster: P02760

    3 Blocks protein domains:
    IPB002223 Pancreatic trypsin inhibitor (Kunitz)
    IPB002345 Lipocalin signature
    IPB002968 Alpha-1-microglobulin signature


    UniProtKB/Swiss-Prot: AMBP_HUMAN, P02760
    Similarity: In the N-terminal section; belongs to the calycin superfamily. Lipocalin family
    Similarity: Contains 2 BPTI/Kunitz inhibitor domains


    AMBP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMBP_HUMAN, P02760
    Function: Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits
    calcium oxalate crystallization
    Function: Trypstatin is a trypsin inhibitor (By similarity)

         Genatlas biochemistry entry for AMBP:
    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-)

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity TAS12817471
    GO:0005515protein binding IPI16364318
    GO:0019855calcium channel inhibitor activity NAS12817471
    GO:0019862IgA binding IDA11877257
    GO:0020037heme binding IDA11877257
         
    AMBP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AMBP:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ambp):
     behavior/neurological  embryogenesis  endocrine/exocrine gland  reproductive system 

    AMBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AMBP: Ambptm1Kkm Ambptm1Miya

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AMBP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AMBP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMBP 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AMBP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Binding and Uptake of Ligands by Scavenger Receptors
    Scavenging of Heme from Plasma0.63
    Binding and Uptake of Ligands by Scavenger Receptors0.63
    2Cell adhesion Cell-matrix glycoconjugates
    Cell adhesion Cell-matrix glycoconjugates0.97

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AMBP
        Cell adhesion Cell-matrix glycoconjugates


    1 GeneGo (Thomson Reuters) Pathway for AMBP
        Cell adhesion Cell-matrix glycoconjugates


    2        Reactome Pathways for AMBP
        Scavenging of Heme from Plasma
    Binding and Uptake of Ligands by Scavenger Receptors



    AMBP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMBP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for AMBP (P027602, 3 ENSP000002651324) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSBP078582, 3, ENSP000003420704MINT-73534 MINT-73532 MINT-73533 MINT-73528 I2D: score=1 STRING: ENSP00000342070
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    PIK3R3Q925693, ENSP000002627414I2D: score=2 STRING: ENSP00000262741
    CD79AP119123, ENSP000002219724I2D: score=1 STRING: ENSP00000221972
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion NAS9570066
    GO:0007565female pregnancy NAS10097787
    GO:0018298protein-chromophore linkage IEA--
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0030163protein catabolic process IEA--

    AMBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AMBP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AMBP

    2 HMDB Compounds for AMBP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    2 DrugBank Compounds for AMBP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Serum albumin iodonated-- 9048-49-1target--17016423 17139284
    Human Serum Albumin-- 9048-49-1target--15452109

    10/61 Novoseek inferred chemical compound relationships for AMBP gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium oxalate 75.8 42 14516400 (3), 10092156 (3), 10541269 (3), 9607205 (2) (see all 16)
    alpha 2 macroglobulin 75.1 2 9837695 (1)
    chondroitin sulfate 68.4 32 7680011 (2), 1708671 (2), 18247611 (2), 20100602 (2) (see all 19)
    ulinastatin 66.9 16 9226730 (2), 9201781 (2), 11882184 (2), 8726115 (1) (see all 7)
    creatinine 65.6 73 1381383 (3), 10655728 (3), 9816376 (2), 11378603 (2) (see all 46)
    chondroitin 53.2 1 7680011 (1)
    glycosaminoglycan 52.5 10 8593487 (2), 1794445 (1), 7528540 (1), 9677337 (1) (see all 9)
    serine 51.8 25 10469301 (2), 18247611 (2), 11052262 (1), 1928843 (1) (see all 21)
    vitamin a 48.9 26 1381383 (4), 8734802 (3), 17301191 (1), 19287901 (1) (see all 20)
    dmsa 46.5 2 19352723 (1)

    Search CenterWatch for drugs/clinical trials and news about AMBP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AMBP gene: 
    NM_001633.3  

    Unigene Cluster for AMBP:

    Alpha-1-microglobulin/bikunin precursor
    Hs.436911  [show with all ESTs]
    Unigene Representative Sequence: NM_001633
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265132(uc004bie.4 uc010mvc.1) ENST00000540645(uc011lxk.2)
    ENST00000466610 ENST00000603230

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    Additional mRNA sequence: 

    AK290837.1 AK303795.1 AK310776.1 AK310791.1 AY544123.1 BC041593.1 M11562.1 X04225.1 
    X04494.1 

    10 DOTS entries:

    DT.454719  DT.100878286  DT.92460856  DT.95156021  DT.92460868  DT.100878287  DT.95164087  DT.95164092 
    DT.95164112  DT.95164091 

    24/416 AceView cDNA sequences (see all 416):

    AV648809 BQ647133 X04225 AV646174 AV649074 AV661431 CR616173 AV646210 
    CR607981 BM742633 AV645689 NM_001633 CB111917 AV646133 AL531184 AV648660 
    AV696152 AV653939 CB117013 AV652004 AI246161 AV651962 T39850 AV656943 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMBP expression in normal human tissues (normalized intensities)      AMBP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAACGGTA
    AMBP Expression
    About this image


    AMBP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
             visceral organ/gut/foregut-midgut junction   
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Blood (Hematopoietic System)
             reticulocytes   
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme
     
     Lung (Respiratory System)

    See AMBP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMBP

    SOURCE GeneReport for Unigene cluster: Hs.436911

    UniProtKB/Swiss-Prot: AMBP_HUMAN, P02760
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AMBP gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ambp1 , 5 alpha 1 microglobulin/bikunin1, 5 78.83(n)1
    76.44(a)1
      4 (33.96 cM)5
    116991  NM_007443.31  NP_031469.11 
     631432755 
    chicken
    (Gallus gallus)
    Aves AMBP1 alpha-1-microglobulin/bikunin precursor 64.61(n)
    58.06(a)
      770795  XM_001234120.2  XP_001234121.1 
    lizard
    (Anolis carolinensis)
    Reptilia AMBP6
    alpha-1-microglobulin/bikunin precursor
    26(a)
    1 ↔ 1
    GL344008.1(57400-61011)
    African clawed frog
    (Xenopus laevis)
    Amphibia ambp-prov2 alpha-1-microglobulin/bikunin precursor 77.16(n)    BC054142.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663212 similar to alpha-1-microglobulin/bikunin precursor 76.12(n)   394093  BC055598.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mlt-116
    Protein MLT-11, isoform b
    2(a)
    1 → many
    V(20667211-20678540)


    ENSEMBL Gene Tree for AMBP (if available)
    TreeFam Gene Tree for AMBP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AMBP gene
    SPINT22  WFIKKN22  SPINT32  SPINT12  TFPI22  WFIKKN12  TFPI2  
    5 SIMAP similar genes for AMBP using alignment to 2 protein entries:     AMBP_HUMAN (see all proteins):
    ITIL    SPINT3    SPINT4    PTGDS    TFPI2

    AMBP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/545 SNPs in AMBP are shown (see all 545)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496508141,2
    --116821945(+) AGCTCC/TGGTCA 1 -- ds50010--------
    rs1838246221,2
    --116822062(+) AGCTCC/GTTGGG 1 -- ds50010--------
    rs2009293081,2
    --116822223(+) AGAAC-/TTTTTGA 1 -- ds50010--------
    rs1443808291,2
    --116822254(+) GCCAAC/TGTCAT 1 -- ds50010--------
    rs1871595601,2
    --116822354(+) CCCCTC/TCGCCA 1 -- ds50010--------
    rs1157108411,2
    F--116822386(+) TGACAA/GTGAAC 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs800579391,2
    C,F--116822510(+) AGACCG/AGCCAG 1 -- ut315Minor allele frequency- A:0.03CSA WA NA EA EU 1646
    rs1483066481,2
    C--116822566(+) AGAGAC/GACTCA 1 -- int10--------
    rs2015977101,2
    C--116822595(+) GGACA-/CTCCTCAG 1 -- cds10--------
    rs22694561,2
    C,F,A,H--116822610(-) GCTGCC/TTTCCC 1 -- int1 trp314Minor allele frequency- T:0.37NA WA CSA EA 381

    HapMap Linkage Disequilibrium report for AMBP (116822407 - 116840752 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for AMBP:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv989178CNV Deletion20482838
    esv996359CNV Deletion20482838
    dgv33e196CNV Duplication17116639
    nsv893750CNV Loss21882294
    nsv471319CNV Gain18288195
    dgv945n27CNV Gain19166990
    nsv528822CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176870    OMIM disorders: --

    20/66 diseases for AMBP (see all 66):    About MalaCards
    acute kidney failure    autoimmune disease of central nervous system    hepatitis e    twin twin transfusion syndrome
    twin-to-twin transfusion syndrome    renal tubular acidosis    vesicoureteral reflux    ureteral obstruction
    proteinuria    lichen sclerosus    fanconi syndrome    hydronephrosis
    pyelonephritis    uremia    hypophosphatemia    primary hyperoxaluria
    type 1 diabetes mellitus    mood disorder    nephrotic syndrome    glomerulonephritis

    1 disease from the University of Copenhagen DISEASES database for AMBP:
    Kidney disease

    AMBP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/69 Novoseek inferred disease relationships for AMBP gene (see all 69)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proteinuria 72 26 7554530 (2), 7685986 (1), 9072628 (1), 9395812 (1) (see all 22)
    microalbuminuria 61.8 5 7532743 (2), 1533771 (1)
    albuminuria 59.2 4 10332434 (1), 9078324 (1), 7691491 (1), 7554530 (1)
    renal disease 57.5 15 1370761 (1), 8969545 (1), 9072628 (1), 12399625 (1) (see all 15)
    renal stone 55.3 8 10092156 (2), 11435884 (1), 19725562 (1), 10541279 (1)
    diabetic nephropathies 50.7 2 9342486 (1), 8593760 (1)
    kidney dysfunction 49.6 1 9072628 (1)
    response acute phase 40.3 4 7532586 (1), 15709178 (1), 1285244 (1)
    vesicoureteral reflux 37.9 2 8969545 (1), 7681890 (1)
    urolithiasis 37.3 4 11435884 (1), 16104926 (1), 9680501 (1), 12230607 (1)

    Genetic Association Database (GAD): AMBP
    Human Genome Epidemiology (HuGE) Navigator: AMBP (5 documents)

    Export disorders for AMBP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AMBP gene, integrated from 9 sources (see all 490):
    (articles sorted by number of sources associating them with AMBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human alpha 1-microglobulin-bikunin gene. (PubMed id 1708673)1, 2, 3, 9 Vetr H. and Gebhard W. (1990)
    2. Human alpha-1-microglobulin is covalently bound to kynurenine-derived chromophores. (PubMed id 15452109)1, 2, 7 Sala A.... Galliano M. (2004)
    3. 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. (PubMed id 1385302)1, 3, 9 Salier J.P....Mattei M.G. (1992)
    4. The 41-amino-acid C-terminal region of the hepatitis E virus ORF3 protein interacts with bikunin, a kunitz-type serine protease inhibitor. (PubMed id 16140784)1, 2, 9 Tyagi S.... Lal S.K. (2005)
    5. Presence of the protein-glycosaminoglycan-protein covalent cross-link in the inter-alpha-inhibitor-related proteinase inhibitor heavy chain 2/bikunin. (PubMed id 7682553)1, 2, 9 Enghild J.J....Hefta S.A. (1993)
    6. Chondroitin sulphate covalently cross-links the three polypeptide chains of inter-alpha-trypsin inhibitor. (PubMed id 7513643)1, 2, 9 Morelle W.... Mizon J. (1994)
    7. The ORF3 protein of hepatitis E virus interacts with liver-specific alpha1-microglobulin and its precursor alpha1-microglobulin/bikunin precursor (AMBP) and expedites their export from the hepatocyte. (PubMed id 15037615)1, 2, 9 Tyagi S....Lal S.K. (2004)
    8. The protein HC chromophore is linked to the cysteine residue at position 34 of the polypeptide chain by a reduction-resistant bond and causes the charge heterogeneity of protein HC. (PubMed id 1714898)1, 2, 9 Escribano J.... Mendez E. (1991)
    9. Prothrombin Haplotype Associated With Kidney Stone Di sease in Northeastern Thai Patients. (PubMed id 21067798)1, 4 Rungroj N....Yenchitsomanus P.T. (2010)
    10. Bikunin and alpha(1)-microglobulin/bikunin precursor (AMBP) gene mutational screening in patients with kidney stones: a case-control study. (PubMed id 20602574)1, 4 Igci M....Demiryurek A.T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 259 HGNC: 453 AceView: AMBP Ensembl:ENSG00000106927 euGenes: HUgn259
    ECgene: AMBP H-InvDB: AMBP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMBP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AMBP gene:
    Search GeneIP for patents involving AMBP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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