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

AMBP Gene

protein-coding   GIFtS: 65
GCID: GC09M116823

alpha-1-microglobulin/bikunin precursor


(Previous symbols: ITI, ITIL)
 Explore 72 diseases affiliated with
AMBP via our new
 Human Malady Compendium 
Biological research products
for AMBP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Alpha-1-Microglobulin/Bikunin Precursor1 2     Bikunin1
HCP1 2 3 5     Complex-Forming Glycoprotein Heterogeneous In Charge2
ITIL1 2 3 5     Growth-Inhibiting Protein 192
ITI1 2 5     Inter-Alpha-Trypsin Inhibitor Light Chain2
EDC11 2     Protein AMBP2
HI301 2     Protein HC2
IATIL1 2     Trypstatin1
ITILC1 2     Uristatin1
UTI1 2     Uronic-Acid-Rich Protein2
A1M2     

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
2 PDB 3D structures from and Proteopedia for AMBP:
1BIK (3D)        3QKG (3D)    
Secondary accessions: P00977 P02759 P78491 Q2TU33 Q5TBD7 Q9UC58 Q9UDI8

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

Post-translational modifications:

  • The precursor is proteolytically processed into separately functioning proteins1
  • 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-352'1
  • Heavy chains are interlinked with bikunin via a chondroitin 4-sulfate bridge to the their C-terminal aspartate (By
  • similarity)1
  • 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 chains1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02760

  • AMBP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001624.1  
    ENSEMBL proteins: 
     ENSP00000265132   ENSP00000443109  
    Reactome Protein details: P02760
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    Uscn Proteins for AMBP

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS11877257
    GO:0005615extracellular space IEA--
    GO:0005792microsome ----
    GO:0005886plasma membrane IDA12817471
    GO:0009986cell surface IEA--


    AMBP for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AMBP for domains           About GeneDecksing

    5/8 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

         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-)

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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity TAS12817471
    GO:0019855calcium channel inhibitor activity NAS12817471
    GO:0019862IgA binding IDA11877257
    GO:0020037heme binding IDA11877257
    GO:0036094small molecule binding IEA--


    AMBP for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for AMBP: Ambptm1Kkm Ambptm1Miya
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cleavage of Alpha-1-Microglobulin
    Cleavage of Alpha-1-Microglobulin1.00
    Binding and Uptake of Ligands by Scavenger Receptors0.79
    Scavenging of Heme from Plasma0.79
    2Cell adhesion_Cell-matrix glycoconjugates
    Cell adhesion_Cell-matrix glycoconjugates1.00
    Cell adhesion Cell-matrix glycoconjugates0.97

    Pathway sources
    See GeneCards unified pathways
    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

    3        Reactome Pathways for AMBP
        Scavenging of Heme from Plasma
    Binding and Uptake of Ligands by Scavenger Receptors
    Cleavage of Alpha-1-Microglobulin



    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion NAS9570066
    GO:0007565female pregnancy NAS10097787
    GO:0018298protein-chromophore linkage IEA--
    GO:0019048virus-host interaction 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, 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
    Browse drugs & compounds from Enzo Life Sciences

    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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) ENST00000466610 ENST00000469146
    ENST00000540645(uc011lxk.2)

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    Additional cDNA 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):

    T72138 AV659596 AV651962 NM_001633 CR616173 AV661431 AV657651 AV658016 
    AV660391 CB117013 BQ646375 CB158484 AV648809 CB120397 T60359 BQ647133 
    AV654216 CB156785 CR607981 BC041593 T73577 X04225 AV653939 CB123021 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCAACGGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    AMBP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Beating cell clusters (Spontaneous differen...)

    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
    Assay Products:
     

     
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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 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 --
    --
    (see all 3)
    --
    17(a)
    14(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    GL343322.1(849868-864826)
    GL344356.1(52895-53065)
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36046
    --
    19(a)
    possible ortholog
    2L(3697242-3697872)


    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
    SPINT32  WFDC82  TFPI2  WFIKKN12  SPINT22  WFIKKN22  TFPI22  EPPIN2  
    EPPIN-WFDC62  
    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, UniProtKB, 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

    10/421 NCBI SNPs in AMBP are shown (see all 421    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
    --116822595(+) GGACA-/CTCCTCAG 1 -- int10--------
    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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for AMBP
         5 CNVs: 29802 5263 53913 5264 29803

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AMBP
    DNA2.0 Custom Variant and Variant Library Synthesis for AMBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AMBP for disorders           About GeneDecksing

    OMIM gene information: 176870    OMIM disorders: --

    20/72 diseases for AMBP (see all 72):    About MalaCards
    twin-to-twin transfusion syndrome    twin twin transfusion syndrome    renal tubular acidosis    vesicoureteral reflux
    retinol binding protein    autoimmune disease of central nervous system    ureteral obstruction    pre-eclampsia
    clear cell renal cell carcinoma    lichen sclerosus    type 1 diabetes mellitus    diabetes mellitus
    inflammatory bowel disease    hepatitis e    primary hyperoxaluria    urolithiasis
    mood disorder    hypophosphatemia    hypercalciuria    myocardial infarction

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

    10/69 Novoseek 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)

    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 486):
    (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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Alpha(1)-microglobulin: a yellow-brown lipocalin. (PubMed id 11058759)1, 2 Aakerstroem B.... Lindqvist A. (2000)

    (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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