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ALB Gene

protein-coding   GIFtS: 71
GCID: GC04P074259

Albumin

  See ALB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
albumin1 2     Albumin (AA 34)2
PRO08832     Cell Growth Inhibiting Protein 422
PRO09032     Growth-Inhibiting Protein 202
PRO13412     Serum Albumin2
Albumin (32 AA)2     

External Ids:    HGNC: 3991   Entrez Gene: 2132   Ensembl: ENSG000001636317   OMIM: 1036005   UniProtKB: P027683   

Export aliases for ALB gene to outside databases

Previous GC identifers: GC04P074509 GC04P074670 GC04P074736 GC04P074635 GC04P070083


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALB Gene:
Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin
functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in
stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight
65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed
before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn
cleaved in the Golgi vesicles to produce the secreted albumin. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALB Gene:
ALB (albumin) is a protein-coding gene. Diseases associated with ALB include analbuminemia, and dysalbuminemic hyperthyroxinemia. GO annotations related to this gene include drug binding and enzyme binding. An important paralog of this gene is AFM.

UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768
Function: Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+),
fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure
of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc

Gene Wiki entry for ALB (Serum albumin) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALB gene promoter:
         STAT5B   TBP   STAT1   STAT4   STAT1beta   STAT5A   STAT1alpha   C/EBPalpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 15): ALB promoter sequence
   Search Chromatin IP Primers for ALB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALB


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

Entrez Gene cytogenetic band: 4q13.3   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P074259:  view genomic region     (about GC identifiers)

Start:
74,262,831 bp from pter      End:
74,287,129 bp from pter
Size:
24,299 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768 (See protein sequence)
Recommended Name: Serum albumin precursor  
Size: 609 amino acids; 69367 Da
Caution: A peptide arising from positions 166 to 174 was originally (PubMed:3087352 and PubMed:2437111) termed
neurotensin-related peptide (NRP) or kinetensin and was thought to regulate fat digestion, lipid absorption, and
blood flow
Sequence caution: Sequence=AAF22034.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAF69644.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAG35503.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for ALB (see all 86) (see first 6):
1AO6 (3D)        1BJ5 (3D)        1BKE (3D)        1BM0 (3D)        1E78 (3D)        1E7A (3D)    
1E7B (3D)        1E7C (3D)        1E7E (3D)        1E7F (3D)        1E7G (3D)        1E7H (3D)    
1E7I (3D)        1GNI (3D)        1GNJ (3D)        1H9Z (3D)        1HA2 (3D)        1HK1 (3D)    
1HK2 (3D)        1HK3 (3D)        1HK4 (3D)        1HK5 (3D)        1N5U (3D)        1O9X (3D)    
1TF0 (3D)        1UOR (3D)        1YSX (3D)        2BX8 (3D)        2BXA (3D)        2BXB (3D)    
2BXC (3D)        2BXD (3D)        2BXE (3D)        2BXF (3D)        2BXG (3D)        2BXH (3D)    
2BXI (3D)        2BXK (3D)        2BXL (3D)        2BXM (3D)        2BXN (3D)        2BXO (3D)    
2BXP (3D)        2BXQ (3D)        2ESG (3D)        2I2Z (3D)        2I30 (3D)        2VDB (3D)    
2VUE (3D)        2VUF (3D)        2XSI (3D)        2XVQ (3D)        2XVU (3D)        2XVV (3D)    
2XVW (3D)        2XW0 (3D)        2XW1 (3D)        2YDF (3D)        3A73 (3D)        3B9L (3D)    
3B9M (3D)        3CX9 (3D)        3JQZ (3D)        3JRY (3D)        3LU6 (3D)        3LU7 (3D)    
3LU8 (3D)        3SQJ (3D)        3TDL (3D)        3UIV (3D)        4E99 (3D)        4EMX (3D)    
Secondary accessions: O95574 P04277 Q13140 Q645G4 Q68DN5 Q6UXK4 Q86YG0 Q9P157 Q9P1I7 Q9UHS3
Q9UJZ0
Alternative splicing: 2 isoforms:  P02768-1   P02768-2   

Explore the universe of human proteins at neXtProt for ALB: NX_P02768

Explore proteomics data for ALB at MOPED

Post-translational modifications: 

  • Kenitra variant is partially O-glycosylated at Thr-620. It has two new disulfide bonds Cys-600 to Cys-602 and
    Cys-601 to Cys-6061
  • Glycated in diabetic patients1
  • Phosphorylation sites are present in the extracellular medium1
  • Acetylated on Lys-223 by acetylsalicylic acid1
  • Ubiquitination2 at Lys229
  • Glycosylation2 at Lys36, Lys75, Lys161, Lys186, Lys223, Lys249, Lys257, Lys300, Lys305, Lys337,
                                 Lys341, Asn342, Lys347, Lys375, Lys402, Lys437, Thr444, Lys463, Lys468, Asp518 (see all 25)
  • Modification sites at PhosphoSitePlus

  • See ALB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000468.1  
    ENSEMBL proteins: 
     ENSP00000392541   ENSP00000295897   ENSP00000401820   ENSP00000423727   ENSP00000421027  
     ENSP00000422784   ENSP00000384695   ENSP00000426179  
    Reactome Protein details: P02768

    ALB Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for ALB
    OriGene MassSpec for ALB
    OriGene Custom Protein Services for ALB
    GenScript Custom Purified and Recombinant Proteins Services for ALB
    Novus Biologicals ALB Proteins
    Novus Biologicals ALB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ALB
    Cloud-Clone Corp. Proteins for ALB

     
    Search eBioscience for Proteins for ALB 

    ALB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ALB
    R&D Systems Antibodies for ALB (Albumin)
    Cell Signaling Technology (CST) Antibodies for ALB  (albumin)
    OriGene Antibodies for ALB
    OriGene Custom Antibody Services for ALB
    Novus Biologicals ALB Antibodies
    Abcam antibodies for ALB
    Cloud-Clone Corp. Antibodies for ALB
    ThermoFisher Antibody for ALB
    LSBio Antibodies in human, mouse, rat for ALB

    ALB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for ALB (Albumin)
    GenScript Custom Assay Services for ALB
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ALB
    Cloud-Clone Corp. CLIAs for ALB
    Search eBioscience for ELISAs for ALB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000264 ALB/AFP/VDB
     IPR014760 Serum_albumin_N
     IPR020858 Serum_albumin-like
     IPR020857 Serum_albumin_CS
     IPR021177 Serum_albumin/AFP

    Graphical View of Domain Structure for InterPro Entry P02768

    ProtoNet protein and cluster: P02768

    1 Blocks protein domain: IPB000264 Serum albumin family

    UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768
    Similarity: Belongs to the ALB/AFP/VDB family
    Similarity: Contains 3 albumin domains


    Find genes that share domains with ALB           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALBU_HUMAN, P02768
    Function: Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+),
    fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure
    of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc

         Genatlas biochemistry entry for ALB:
    albumin,putative down-regulated c-Myc target gene,

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA16405401
    GO:0005504fatty acid binding NAS9731778
    GO:0005507copper ion binding NAS14726550
    GO:0005515protein binding IPI16099937
    GO:0008144drug binding NAS10940303
         
    Find genes that share ontologies with ALB           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Alb):
     cellular  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  normal  renal/urinary system  tumorigenesis 

    Find genes that share phenotypes with ALB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ALB: Albtm1Lex Afp/AlbAfp/tm1.1Brts

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALB

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidALB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALB
    Predesigned siRNA for gene silencing in human, mouse, rat ALB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ALB

    Clone
    Products:
         
    OriGene clones in human, mouse for ALB (see all 8)
    OriGene ORF clones in mouse, rat for ALB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALB (NM_000477)
    Sino Biological Human cDNA Clone for ALB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ALB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALB

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13599 VA6-13354) for ALB 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ALBU_HUMAN, P02768: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton3
    cytosol3
    endoplasmic reticulum3
    mitochondrion3
    nucleus3
    plasma membrane3
    chloroplast2
    endosome2
    golgi apparatus2
    lysosome2
    peroxisome2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA19996109
    GO:0005737cytoplasm ----
    GO:0031093platelet alpha granule lumen TAS--

    Find genes that share ontologies with ALB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ALB About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Lipoprotein metabolism
    Lipoprotein metabolism0.59
    HDL-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    2Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    3Synthesis of bile acids and bile salts
    Bile acid and bile salt metabolism0.73
    Recycling of bile acids and salts0.00
    4Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging of Heme from Plasma0.53
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with ALB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ALB
        Ca, cAMP and Lipid Signaling

    2 BioSystems Pathways for ALB
        Selenium Pathway
    FOXA2 and FOXA3 transcription factor networks


    5 Reactome Pathways for ALB
        Platelet degranulation
    Scavenging of heme from plasma
    Recycling of bile acids and salts
    Transport of organic anions
    HDL-mediated lipid transport


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALB: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Oxidative Stress in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ALB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALB (P027681, 2, 3 ENSP000002958974) via UniProtKB, MINT, STRING, and/or I2D (see all 262)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IMMTQ168912, 3, ENSP000003872624MINT-8258723 I2D: score=2 STRING: ENSP00000387262
    TFRCP027861, 2EBI-714423,EBI-355727 MINT-8413175 MINT-8412660
    PFDN1O609252, 3MINT-8265687 I2D: score=2 
    TK1P041832, 3MINT-8272905 I2D: score=2 
    ENSG00000237112Q9UBS53, ENSP000004112864I2D: score=1 STRING: ENSP00000411286
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEP--
    GO:0002576platelet degranulation TAS--
    GO:0006810transport TAS12617161
    GO:0007584response to nutrient IEA--
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with ALB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALB (ALBU)

    10 HMDB Compounds for ALB    About this table
    CompoundSynonyms CAS #PubMed Ids
    Bilirubin(4Z,15Z)-Bilirubin IXa (see all 17)635-65-418498776
    BismuthBi (see all 2)7440-69-9--
    ChlorpheniramineChlor-trimeton (see all 8)113-92-8--
    Estrone(+)-Estrone (see all 7)53-16-7--
    Estrone sulfateConestoral (see all 12)481-97-0--
    Ibuprofenalpha-(4-Isobutylphenyl)propionate (see all 9)15687-27-1--
    Liothyronine3,3',5-Triiodo-L-thyronine (see all 20)6893-02-3--
    Pyridoxine2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine (see all 16)65-23-6--
    Sodium lauryl sulfateAdeka Hope LS 35 (see all 243)151-21-3--
    Testosterone(+)-testosterone (see all 86)58-22-0--

    Selected DrugBank Compounds for ALB (see all 134)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sodium lauryl sulfateDodecyl alcohol, hydrogen sulfate, sodium salt (see all 27)151-21-3carrierbinder16457837 16085141 16256620 16256532 11752352 16379295
    CefoperazoneCefoperazono [inn-spanish] (see all 2)62893-19-0carrierother/unknown2311445 2496656 3339510 16379298 8950041
    PhenprocoumonFenprocumone [DCIT] (see all 5)435-97-2carrier--1205658 1642965 4762907 2751413 12543492
    Auranofin-- 34031-32-8carrier--11666224 7925457 2403377 3655788
    CaptoprilCaptoprilum [INN-Latin] (see all 3)62571-86-2carrierother/unknown16469467 8216349 9040098 15093593
    Diflunisal-- 22494-42-4carrier--17132209 11673972 7371361 2751413
    DigitoxinDigitoksin (see all 3)71-63-6carrier--11678517 10774625 10604823 10202961
    Ethacrynic acidEtacrinic acid (see all 6)58-54-8carrier--9275312 3714803 9863950 2792351
    Gadobenate Dimeglumine-- 113662-23-0carrierbinder9055236 16118549 11752352 9406019
    Gadofosveset trisodiumAblavar (see all 4)193901-90-5carriersubstrate16706555 19222207 17625839 17650553

    Selected Novoseek inferred chemical compound relationships for ALB gene (see all 140)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 90.6 3964 10727680 (8), 8831085 (7), 9080259 (7), 17405790 (7) (see all 99)
    fibrinogen 83.7 1545 16703327 (7), 9610611 (7), 11422756 (7), 12969171 (7) (see all 99)
    cholesterol 79.9 2000 15082432 (7), 8524502 (6), 18563300 (6), 17279492 (5) (see all 99)
    rhsa 78.5 72 9167443 (2), 10502345 (2), 18199895 (2), 9688461 (2) (see all 38)
    dansylsarcosine 78.2 30 1382424 (6), 9430764 (3), 8720306 (2), 1706921 (2) (see all 16)
    urea 77.8 659 8366899 (5), 8573919 (4), 17361319 (4), 10666933 (4) (see all 99)
    uric acid 76.4 495 10910618 (5), 10898045 (4), 18442624 (4), 16554340 (3) (see all 99)
    hydroxyethyl starch 76.4 487 10703679 (8), 11515893 (7), 9261899 (6), 10361869 (6) (see all 99)
    glucose 73.8 1576 19349048 (6), 9103700 (6), 8575721 (6), 16920285 (5) (see all 99)
    fructosamine 71.2 212 10326628 (7), 1597333 (5), 8893144 (5), 8502341 (5) (see all 95)



    Find genes that share compounds with ALB           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALB gene: 
    NM_000477.5  

    Unigene Clusters for ALB:

    Albumin
    Hs.418167  [show with all ESTs], Hs.592379  [show with all ESTs]
    Unigene Representative Sequences: NM_000477, BX436222
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441319 ENST00000295897(uc003hgs.4 uc011cbe.2 uc003hgw.4 uc011cbf.2)
    ENST00000510166 ENST00000515133 ENST00000415165 ENST00000514786 ENST00000476441
    ENST00000503124 ENST00000509063 ENST00000401494 ENST00000505649 ENST00000511370
    ENST00000507673 ENST00000484992 ENST00000504043 ENST00000486939 ENST00000508932
    ENST00000495173
    miRNA
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    Additional mRNA sequence: X51365.1 

    Selected DOTS entries (see all 209):

    DT.100864734  DT.98132054  DT.95377482  DT.100746389  DT.87011119  DT.100861910  DT.100746447  DT.100746541 
    DT.91816166  DT.95377906  DT.95376610  DT.100746432  DT.95376706  DT.100844172  DT.95376678  DT.100861974 
    DT.100746557  DT.100746613  DT.95376631  DT.91998425  DT.92056056  DT.98132061  DT.100746529  DT.95376639 

    Selected AceView cDNA sequences (see all 3197):

    CB154702 T73709 BX463249 BX496355 AV718020 BX448763 T64294 AL531120 
    CR601390 BX422186 BG618609 CR607762 AL531299 BX422283 CR593838 AL558034 
    AL531579 BX382948 BX494684 BX340572 BX445210 BX494860 AI207701 BX462983 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALB (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a ·
    SP1:                                                              -                             -                       -                                       
    SP2:                                                  -     -     -     -     -     -     -     -     -     -           -                                       
    SP3:                    -     -     -     -     -     -     -     -     -     -                 -                       -                                       
    SP4:                          -     -     -     -     -     -     -     -     -     -           -                       -                                       
    SP5:                                      -     -     -     -     -     -                       -                                                               

    ExUns: 14b ^ 15 ^ 16a · 16b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ALB

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAATAAGAG
    ALB Expression
    About this image


    ALB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 21 entries
             Mature Hepatocytes Liver Lobule
             Adult liver progenitor cells
             Immature hepatocytes
             Human Hepatocyte (HH)   
     
     Epithelial Cells
             Hepatic Endoderm Cells Ventral Foregut Endoderm
     
     Gut Tube (Gastrointestinal Tract)
             Hepatic Endoderm Cells Ventral Foregut Endoderm
     
     Blood (Cardiovascular System)
             Fetal Liver CD34+ Cells   
     
     Pancreas (Endocrine System)
             Endocrine progenitors
    ALB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALB Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.418167 Hs.592379

    UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768
    Tissue specificity: Plasma

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ALB gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alb1 , 5 albumin1, 5 77.08(n)1
    72.37(a)1
      5 (44.70 cM)5
    116571  NM_009654.31  NP_033784.21 
     904608895 
    chicken
    (Gallus gallus)
    Aves ALB1 albumin 60.37(n)
    47.95(a)
      396197  NM_205261.1  NP_990592.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cars21 cysteinyl-tRNA synthetase 2, mitochondrial (putative) 54.04(n)
    39.87(a)
      448227  NM_001004887.2  NP_001004887.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALB gene
    AFM2  GC2  AFP2  
    2 SIMAP similar genes for ALB using alignment to 8 protein entries:     ALBU_HUMAN (see all proteins):
    AFP    AFM

    Find genes that share paralogs with ALB           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ALBU_HUMAN, P02768: A variant structure of albumin could lead to increased binding of zinc resulting in an asymptomatic
    augmentation of zinc concentration in the blood. The sequence shown is that of variant albumin A


    Selected SNPs for ALB (see all 598)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0130114
    Dysalbuminemic hyperthyroxinemia (DH)4--see VAR_0130112 L P mis40--------
    VAR_0005144
    Dysalbuminemic hyperthyroxinemia (DH)4--see VAR_0005142 R H mis40--------
    VAR_0130134
    Dysalbuminemic hyperthyroxinemia (DH)4--see VAR_0130132 R P mis40--------
    rs774081631,2
    Cpathogenic174148127(+) TGCACA/GTAAGA 1 -- spd10--------
    rs778923781,2
    Cpathogenic174150480(+) ATCACC/TTGTAA 2 P L mis10--------
    rs773353741,2
    Cpathogenic174155714(+) TTTTTA/G/TGGGCA 1 -- spa11CSA 1
    rs750026281,2
    Cpathogenic174155727(+) AGCTCA/C/GCCTGA 3 H P R mis10--------
    rs792280411,2
    Cpathogenic174163355(+) TTGCCA/GAGGAG 2 K E mis10--------
    rs762420871,2
    Cuntested174157309(+) TAAGGA/G/TTGTTT 3 D G V mis10--------
    rs782840521,2,,4
    C,Funtested174163244(+) AGCTCG/ATGAAA 2 /M /V mis11Minor allele frequency- A:0.00NA 4548

    HapMap Linkage Disequilibrium report for ALB (74262831 - 74287129 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALB:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv956e199CNV Deletion23128226
    esv274665CNV Insertion20981092
    nsv879491CNV Loss21882294
    nsv879490CNV Gain21882294

    Human Gene Mutation Database (HGMD): ALB
    Locus Specific Mutation Databases (LSDB): ALB

    Site Specific Mutation Identification with PCR Assays
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    (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

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    OMIM gene information: 103600   
    OMIM disorders: 194470  
    UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768
  • Dysalbuminemic hyperthyroxinemia (DH) [MIM:103600]: A disorder characterized by abnormally elevated
    levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4
    with enhanced affinity. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ALB (see all 108):    
    About MalaCards
    analbuminemia    dysalbuminemic hyperthyroxinemia    hepatorenal syndrome    blastomycosis
    hypersensitivity reaction type iii disease    systemic capillary leak syndrome    immunotactoid glomerulopathy    congenital analbuminemia
    peritonitis    hepatopulmonary syndrome    hyperthyroxinemia    chylous ascites
    decubitus ulcer    tricuspid atresia    familial hypertension    visceral myopathy
    cap polyposis    lymphatic system disease    cronkhite-canada syndrome    kernicterus

    Selected diseases from the University of Copenhagen DISEASES database for ALB (see all 69):
    Diabetes mellitus     Proteinuria     Liver disease     Kidney failure
    Hypertension     Nephrotic syndrome     Lung disease     Nephritis
    Peritonitis     protein-energy malnutrition     protein-losing enteropathy     Hepatocellular carcinoma
    Heart disease     Anemia     Hepatitis B     Cerebrovascular accident
    Kernicterus     Hypersensitivity reaction type II disease     Peripheral vascular disease     Atherosclerosis

    Find genes that share disorders with ALB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ALB gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microalbuminuria 94.9 1034 7634745 (5), 9759691 (5), 15717883 (5), 12788992 (4) (see all 99)
    albuminuria 92.5 360 16703327 (5), 17405790 (5), 10489399 (4), 9179466 (4) (see all 99)
    hypoalbuminemia 90.4 275 1569418 (4), 19615208 (4), 9397418 (4), 10428270 (3) (see all 99)
    diabetic nephropathies 89.2 362 1881577 (4), 8264568 (3), 11131103 (3), 10198605 (3) (see all 99)
    renal disease 87 640 8163055 (4), 8593760 (4), 19729498 (3), 17928473 (3) (see all 99)
    proteinuria 86.2 625 12521234 (5), 9915226 (5), 16425574 (5), 1831839 (5) (see all 99)
    malnutrition 86 406 17957127 (4), 19218044 (4), 11592443 (3), 17321950 (3) (see all 99)
    renal failure chronic 80.6 103 2082760 (2), 1951474 (2), 9101098 (2), 1282889 (1) (see all 98)
    nephrotic syndrome 79.7 186 2082057 (6), 8502517 (5), 1379421 (3), 15481604 (3) (see all 99)
    protein-energy malnutrition 76.8 30 10219494 (2), 15695952 (2), 9106105 (1), 10433138 (1) (see all 24)

    Genetic Association Database (GAD): ALB
    Human Genome Epidemiology (HuGE) Navigator: ALB (17 documents)

    Export disorders for ALB 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)
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    PubMed articles for ALB gene, integrated from 10 sources (see all 8844):
    (articles sorted by number of sources associating them with ALB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structures of human serum albumin complexed with monounsaturated and polyunsaturated fatty acids. (PubMed id 11743713)1, 2, 7 Petitpas I.... Curry S. (J. Mol. Biol. 2001)
    2. Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. (PubMed id 7852505)1, 2, 9 Rushbrook J.I.... Divino C.M. (J. Clin. Endocrinol. Metab. 1995)
    3. A nucleotide insertion and frameshift cause albumin Kenitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges. (PubMed id 11168369)1, 2, 9 Minchiotti L....Galliano M. (Eur. J. Biochem. 2001)
    4. Crystal structure of human serum albumin at 2.5-A resolution. (PubMed id 10388840)1, 2, 9 Sugio S.... Kobayashi K. (Protein Eng. 1999)
    5. Protein and DNA sequence analysis of a 'private' genetic variant: albumin Ortonovo (Glu-505-->Lys). (PubMed id 7902134)1, 2, 9 Galliano M.... Putnam F.W. (Biochim. Biophys. Acta 1993)
    6. Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions. (PubMed id 1347703)1, 2, 9 Minchiotti L.... Porta F. (Biochim. Biophys. Acta 1992)
    7. Genetic variants of serum albumin in Americans and Japanese. (PubMed id 1946412)1, 2, 9 Madison J.... Putnam F.W. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    8. Allostery in a monomeric protein: the case of human serum albumin. (PubMed id 20346571)1, 7 Ascenzi P. and Fasano M. (Biophys. Chem. 2010)
    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. (Genome Res. 2004)
    10. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 213 HGNC: 399 AceView: ALB Ensembl:ENSG00000163631 euGenes: HUgn213
    ECgene: ALB H-InvDB: ALB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ALB Pharmacogenomics, SNPs, Pathways
    Albumin Websitehttp://www.albumin.org
    Wikipedia http://en.wikipedia.org/wiki/Serum_albumin
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALB[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/alb/

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

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



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