Aliases for ALB Gene
External Ids for ALB Gene
- HGNC: 399
- Entrez Gene: 213
- Ensembl: ENSG00000163631
- OMIM: 103600
- UniProtKB: P02768
Previous GeneCards Identifiers for ALB Gene
- GC04P074259
- GC04P074509
- GC04P074670
- GC04P074736
- GC04P074635
- GC04P070083
Summaries for ALB Gene
-
This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]
GeneCards Summary for ALB Gene
ALB (Albumin) is a Protein Coding gene. Diseases associated with ALB include Analbuminemia and Hyperthyroxinemia, Familial Dysalbuminemic. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of vitamins, nucleosides, and related molecules. GO annotations related to this gene include enzyme binding and chaperone binding. An important paralog of this gene is AFP.
UniProtKB/Swiss-Prot for ALB Gene
-
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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALB Gene
Genomics for ALB Gene
Regulatory Elements for ALB Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH04G073344 | 0.9 | ENCODE | 4.6 | -51.5 | -51515 | 2.0 | ELF3 FOXA2 ATF1 DMAP1 DNMT3B RAD21 RARA YY1 GATA4 CREM | AFP ENSG00000221639 ALB ENSG00000249976 |
| GH04G073527 | 0.3 | FANTOM5 | 4.5 | +130.7 | 130707 | 0.0 | AFM ALB ENSG00000249970 LINC02499 | |
| GH04G073189 | 0.7 | FANTOM5 | 1.5 | -207.7 | -207708 | 0.0 | NR4A1 ZNF398 RELA ZNF592 OSR2 TFDP1 NFIC ZNF766 ZNF589 ZBTB48 | ANKRD17 ENSG00000250220 ENSG00000221639 AFM ALB GC04P073141 LOC102724832 |
| GH04G073388 | 0.9 | ENCODE | 0.4 | -8.0 | -8025 | 1.3 | FOXA2 ATF1 ARID4B ZSCAN9 RAD21 RARA YY1 GATA4 CREM MIXL1 | ALB ENSG00000249976 |
- Transcription factor binding sites by QIAGEN in the ALB gene promoter:
Genomic Location for ALB Gene
- Chromosome:
- 4
- Start:
- 73,397,114 bp from pter
- End:
- 73,421,412 bp from pter
- Size:
- 24,299 bases
- Orientation:
- Plus strand
Genomic View for ALB Gene
- Cytogenetic band:
-
- 4q13.3 by Ensembl
- 4q13.3 by Entrez Gene
- 4q13.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALB Gene
Proteins for ALB Gene
-
Protein details for ALB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P02768-ALBU_HUMAN
- Recommended name:
- Serum albumin
- Protein Accession:
- P02768
- E7ESS9
- O95574
- P04277
- Q13140
- Q645G4
- Q68DN5
- Q6UXK4
- Q86YG0
- Q8IUK7
- Q9P157
- Q9P1I7
- Q9UHS3
- Q9UJZ0
Protein attributes for ALB Gene
- Size:
- 609 amino acids
- Molecular mass:
- 69367 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAF22034.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF69644.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG35503.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ALB Gene
Protein Expression for ALB Gene
Post-translational modifications for ALB Gene
- Acetylated on Lys-223 by acetylsalicylic acid.
- Glycated in diabetic patients.
- 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-606.
- Phosphorylated by FAM20C in the extracellular medium.
- Ubiquitination at posLast=229229
- Glycosylation at Lys36, posLast=7575, posLast=161161, Lys186, Lys223, posLast=249249, posLast=257257, Lys300, Lys305, Lys337, posLast=341341, Asn342, posLast=347347, Lys375, posLast=402402, Lys437, posLast=444444, posLast=463463, Lys468, posLast=518518, Lys549, posLast=558558, Lys560, Lys569, and Lys597
- Modification sites at PhosphoSitePlus
Other Protein References for ALB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for ALB
- R&D Systems Antibodies for ALB (Albumin)
- Cell Signaling Technology (CST) Antibodies for ALB (albumin)
-
Custom Antibody ServicesOriGene Antibodies for ALB
- TA500101S
- CF507291
- TA507291
- CF507290
- TA507290
- CF507289
- TA507289
- CF507288
- TA507288
- CF507287
- TA507287
- CF507286
- TA507286
- TA346879
- TA346878
- TA323638
- TA319292
- TA306776
- SM3000PX
- SM3000P
- SM3000B
- R1619B
- R1594P
- R1594F
- R1048PS
- R1048H
- R1048BS
- R1048A
- R1048
- R1047
- DP046-05
- DP046
- BP228
- BP221
- BM210
- AP55269SU-N
- AP32991SU-N
- AP31648SU-N
- AP31648PU-N
- AP31552SU-N
- AP31552FC-N
- AP31551SU-N
- AP31516SU-N
- AP31515SU-N
- AP31511SU-N
- AP26411AF-N
- AP26337PU-N
- AP17100PU-N
- AP09012BT-N
- AP05356HR-N
- AM31844SU-N
- AM31145PU-N
- AM20810PU-S
- AM20810PU-N
- AM20810PU-L
- AM20809PU-S
- AM20809PU-N
- AM20809PU-L
- AM20434SU-N
- AM10156PU-N
- AM10155PU-N
- AM09262PU-N
- AM06098PU-N
- AM05449PU-N
- AM05447PU-N
- AM03213PU-N
- Novus Biologicals Antibodies for ALB
- Invitrogen Antibodies for ALB
- antibodies-online Antibodies for ALB: See all 1209
- GeneTex ALB antibody for ALB
-
Custom Antibody ServicesProSci Antibodies for ALB
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALB
Protein Products
- Enzo Life Sciences proteins for ALB
-
OriGene Purified Proteins for ALB
- Search Origene for MassSpec and Protein Over-expression Lysates for ALB
- Origene Custom Protein Services for ALB
- Sino Biological Recombinant Proteins for ALB
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for ALB
- antibodies-online Proteins for ALB: See all 141
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ALB
-
ProSci Proteins for ALB
Assay Products
- R&D Systems ELISAs and other biochemical assays for ALB (Albumin)
- antibodies-online Kits for ALB: See all 167
No data available for DME Specific Peptides for ALB Gene
Domains & Families for ALB Gene
Protein Domains for ALB Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P02768- Family:
-
- Belongs to the ALB/AFP/VDB family.
No data available for Gene Families for ALB Gene
Function for ALB Gene
Molecular function for ALB Gene
- GENATLAS Biochemistry:
- albumin,putative down-regulated c-Myc target gene,
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IDA | 16405401 |
| GO:0005504 | fatty acid binding | NAS | 9731778 |
| GO:0005507 | copper ion binding | NAS | 14726550 |
| GO:0005515 | protein binding | IPI | 16099937 |
| GO:0008144 | drug binding | NAS | 10940303 |
Phenotypes for ALB Gene
- MGI mutant phenotypes for ALB:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for ALB:
Animal Models for ALB Gene
- MGI Knock Outs for ALB:
-
- Afp/Alb tm1.1Brts
Animal Model Products
-
Taconic Biosciences Mouse Models for ALB
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALB
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ALB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ALB gene
- Search ViGene Biosciences for ALB
CRISPR Products
-
OriGene CRISPR knockouts for ALB
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALB
- GenScript: Design CRISPR guide RNA sequences for ALB
miRNA for ALB Gene
- miRTarBase miRNAs that target ALB
miRNA Products
- Search ViGene Biosciences for ALB
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ALB
- Browse OriGene Inhibitory RNA Products For ALB
-
ViGene Biosciences ready-to-package AAV shRNAs for ALB gene
Clone Products
- Sino Biological Human cDNA Clone for ALB
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ALB
- VectorBuilder custom plasmid, inducible vectors for ALB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ALB
-
ViGene Biosciences adenoviral particle packaged cDNA for ALB gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ALB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ALB gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-13599 VA6-13354) for ALB
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ALB Gene
Localization for ALB Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALB Gene
- Secreted.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,TAS | -- |
| GO:0005615 | extracellular space | IEA,IDA | 19996109 |
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA | -- |
Pathways & Interactions for ALB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 2 | Lipoprotein metabolism | ||
| 3 | Folate Metabolism | ||
| 4 | Synthesis of bile acids and bile salts | ||
| 5 | Binding and Uptake of Ligands by Scavenger Receptors | ||
Pathways by source for ALB Gene
1 Cell Signaling Technology pathway for ALB Gene
4 BioSystems pathways for ALB Gene
1 KEGG pathway for ALB Gene
1 R&D Systems pathway for ALB Gene
Interacting Proteins for ALB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001895 | retina homeostasis | IEP | 23580065 |
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0006810 | transport | IEA,TAS | 12617161 |
| GO:0006898 | receptor-mediated endocytosis | TAS | -- |
| GO:0009267 | cellular response to starvation | IDA | 16245148 |
No data available for SIGNOR curated interactions for ALB Gene
Drugs & Compounds for ALB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ibuprofen | Approved | Pharma | Channel blocker, Carrier | 518 | ||
| Vandetanib | Approved April 2011 | Pharma | Carrier, binder | VEGFR, EGFR, and RET inhibitor, EGFR Inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 0 | |
| Estrone | Approved | Pharma | Agonist, Carrier | Estrogenic hormone | 21 | |
| Estrone sulfate | Approved | Pharma | Carrier | 0 | ||
| Liothyronine | Approved, Vet_approved | Pharma | Carrier | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for ALB Gene
| Compound | Action | Cas Number |
|---|---|---|
| p-Cresyl sulfate | Protein-bound uremic retention solute | 3233-58-7 |
Drug Products
- ApexBio compounds for ALB
Transcripts for ALB Gene
mRNA/cDNA for ALB Gene
- (1) REFSEQ mRNAs :
- (26) Additional mRNA sequences :
- (3197) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ALB Gene
CRISPR Products
-
OriGene CRISPR knockouts for ALB
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALB
- GenScript: Design CRISPR guide RNA sequences for ALB
miRNA Products
- Search ViGene Biosciences for ALB
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ALB
- Browse OriGene Inhibitory RNA Products For ALB
-
ViGene Biosciences ready-to-package AAV shRNAs for ALB gene
Clone Products
- Sino Biological Human cDNA Clone for ALB
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ALB
- VectorBuilder custom plasmid, inducible vectors for ALB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-13599 VA6-13354) for ALB
| 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: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 14b | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: |
Expression for ALB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Fetal Hepatocytes Liver Lobule
- Mature Hepatocytes Liver Lobule
- Oval Cells Intrahepatic Biliary Tree
- Hepatocytes Liver Lobule
- Hepatic Diverticulum Cells Hepatic Diverticulum
-
Epithelial Cells
- Hepatic Diverticulum Cells Hepatic Diverticulum
- Hepatic Endoderm Cells Ventral Foregut Endoderm
- Amniotic Epithelial Cells Amniotic Membrane
- Hepatoblasts Liver Bud
- Adult liver progenitor cells
- Pancreas (Endocrine System)
- NULL (Uncategorized)
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Gut Tube (Gastrointestinal Tract)
- Hepatic Endoderm Cells Ventral Foregut Endoderm
-
Amnion (Extraembryonic Tissues)
- Amniotic Epithelial Cells Amniotic Membrane
- Adipose (Muscoskeletal System)
- Smooth Muscle (Muscoskeletal System)
- Blood (Cardiovascular System)
-
Thyroid (Endocrine System)
-
Lung (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for ALB Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALB Gene
NURSA nuclear receptor signaling pathways regulating expression of ALB Gene:
ALBSOURCE GeneReport for Unigene cluster for ALB Gene:
Hs.418167mRNA Expression by UniProt/SwissProt for ALB Gene:
P02768-ALBU_HUMANEvidence on tissue expression from TISSUES for ALB Gene
- Blood(5)
- Heart(5)
- Liver(5)
- Spleen(5)
- Kidney(4.9)
- Muscle(4.9)
- Nervous system(4.9)
- Urine(4.8)
- Lung(4.7)
- Intestine(4.2)
- Gall bladder(3.9)
- Pancreas(3.7)
- Adrenal gland(3.6)
- Eye(3.6)
- Skin(3.2)
- Stomach(2.8)
- Thyroid gland(2.8)
- Bone marrow(2.7)
- Lymph node(2.7)
- Saliva(2.5)
- Bone(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALB Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
- brain
- ear
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
- chest wall
- clavicle
- heart
- rib
- rib cage
- scapula
- sternum
- duodenum
- intestine
- kidney
- liver
- small intestine
- pelvis
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- blood vessel
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ALB
-
OriGene qPCR primer pairs and template standards for ALB
Orthologs for ALB Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ALB 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ALB 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ALB 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Alb 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Alb 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ALB 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ALB 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ALB 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cars2 34 |
|
- Species where no ortholog for ALB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for ALB Gene
(2) SIMAP similar genes for ALB Gene using alignment to 8 proteins:
Variants for ALB Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for ALB Gene
- 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.
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs75002628 | other, Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999], Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] | 73,412,007(+) | AGCTC(A/C/G)CCTGA | reference, missense | |
| rs77892378 | other, Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] | 73,406,760(+) | ATCAC(C/G/T)TGTAA | reference, missense | |
| rs74821926 | Pathogenic | 73,404,398(+) | TCGTC(A/C/G/T)AGATG | reference, missense | |
| rs75353611 | Pathogenic | 73,404,401(+) | TCGAG(A/T)TGCAC | reference, missense | |
| rs77335374 | Pathogenic | 73,411,994(+) | TTTTT(A/G/T)GGGCA | splice-acceptor-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv956e199 | CNV | deletion | 23128226 |
| esv3310394 | CNV | mobile element insertion | 20981092 |
| esv3346976 | CNV | insertion | 20981092 |
Relevant External Links for ALB Gene
Disorders for ALB Gene
(250) MalaCards diseases for ALB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| analbuminemia |
|
|
| hyperthyroxinemia, familial dysalbuminemic |
|
|
| ehlers-danlos syndrome, type viib |
|
|
| dysalbuminemic hyperthyroxinemia |
|
|
| liver cirrhosis |
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UniProtKB/Swiss-Prot
ALBU_HUMAN- Analbuminemia (ANALBA) [MIM:616000]: A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. {ECO:0000269 PubMed:8134387}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]: 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. {ECO:0000269 PubMed:7852505, ECO:0000269 PubMed:8048949, ECO:0000269 PubMed:9329347, ECO:0000269 PubMed:9589637}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for ALB
No data available for Genatlas for ALB Gene
Publications for ALB Gene
- A nucleotide insertion and frameshift cause albumin Kenitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges. (PMID: 11168369) Minchiotti L. … Galliano M. (Eur. J. Biochem. 2001) 3 4 22 64
- Crystal structure of human serum albumin at 2.5-A resolution. (PMID: 10388840) Sugio S. … Kobayashi K. (Protein Eng. 1999) 3 4 22 64
- Protein and DNA sequence analysis of a 'private' genetic variant: albumin Ortonovo (Glu-505-->Lys). (PMID: 7902134) Galliano M. … Putnam F.W. (Biochim. Biophys. Acta 1993) 3 4 22 64
- Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions. (PMID: 1347703) Minchiotti L. … Porta F. (Biochim. Biophys. Acta 1992) 3 4 22 64
- Genetic variants of serum albumin in Americans and Japanese. (PMID: 1946412) Madison J. … Putnam F.W. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 22 64
Products for ALB Gene
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