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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALB Gene

protein-coding GIFtS: 70
GCID: GC04P074259

Albumin

Microbiology & Infectious Diseases Congress

483 related diseases
at

MalaCards

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

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 hepatorenal syndrome, and dysalbuminemic hyperthyroxinemia, and among its related super-pathways are Lipoprotein metabolism and Response to elevated platelet cytosolic Ca2+. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NT_022778.16 NC_018915.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for ALB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: ALBU_HUMAN, P02768 (See protein sequence)

Recommended Name: Serum albumin precursor

Size: 609 amino acids; 69367 Da

Subcellular location: Secreted

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;

6/77 PDB 3D structures from and Proteopedia for ALB (see all 77):

1AO6 (3D)

1BJ5 (3D)

1BKE (3D)

1BM0 (3D)

1E78 (3D)

1E7A (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:

UniProtKB: 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

UniProtKB: Glycated in diabetic patients

UniProtKB: Phosphorylation sites are present in the extracellular medium

UniProtKB: Acetylated on Lys-223 by acetylsalicylic acid

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P02768

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

REFSEQ proteins: NP_000468.1

ENSEMBL proteins:

ENSP00000392541 ENSP00000295897 ENSP00000401820 ENSP00000423727 ENSP00000421027

ENSP00000422784 ENSP00000384695 ENSP00000426179

Reactome Protein details: P02768
Human Recombinant Protein Products for ALB:

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	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

Gene Ontology (GO): 7 cellular component terms (GO ID links to tree view) (see first 5): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005604	basement membrane	IEA	--
GO:0005615	extracellular space	IDA	19996109
GO:0005737	cytoplasm	--	--
GO:0031093	platelet alpha granule lumen	TAS	--
GO:0043234	protein complex	IDA	16283771
GO:0070062	extracellular vesicular exosome	IDA	--

ALB for ontologies About GeneDecksing

ALB Antibody Products:

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Assay Products for ALB:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for ALB Cloud-Clone Corp. CLIAs for ALB

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

5 InterPro protein domains:

IPR020858 Serum_albumin-like

IPR000264 ALB/AFP/VDB

IPR014760 Serum_albumin_N

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

ALB 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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: 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): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table

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

ALB for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Alb):

digestive/alimentary	homeostasis/metabolism	liver/biliary system	mortality/aging	normal
renal/urinary system	tumorigenesis

ALB for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for ALB: Alb^tm1Lex Afp/Alb^{Afp/tm1.1Brts}

inGenious Targeting Laboratory - Custom generated mouse model solutions for ALB

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

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALB
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ALB
		SwitchGear 3'UTR luciferase reporter plasmid: ALB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for ALB
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		Sirion Biotech Custom design and validation of potent shRNA sequences against ALB

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ALB
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		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)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ALB
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALB

(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 ALB About (see all 13)

See pathways by source

SuperPath

Contained pathways About

Lipoprotein metabolism

	Lipoprotein metabolism	0.57			Lipid digestion, mobilization, and transport	0.56
	HDL-mediated lipid transport	0.57

Platelet degranulation

Platelet degranulation

0.94

Response to elevated platelet cytosolic Ca2+

0.94

Synthesis of bile acids and bile salts

Bile acid and bile salt metabolism

0.74

Recycling of bile acids and salts

0.35

Binding and Uptake of Ligands by Scavenger Receptors

Binding and Uptake of Ligands by Scavenger Receptors

0.63

Scavenging of Heme from Plasma

0.63

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

0.50

Transmembrane transport of small molecules

0.50

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for ALB

	Selected targets of HNF1
	Selected targets of C/EBPalpha

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

5/17 Reactome Pathways for ALB (see all 17)

	Metabolism
	Recycling of bile acids and salts
	Response to elevated platelet cytosolic Ca2+
	Transmembrane transport of small molecules
	SLC-mediated transmembrane transport

ALB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ALB

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

5/260 Interacting proteins for ALB (P02768^{2, 3} ENSP00000295897⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 260)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IMMT	Q16891²^,³, ENSP00000387262⁴	MINT-8258723 I2D: score=2 STRING: ENSP00000387262
PFDN1	O60925²^,³	MINT-8265687 I2D: score=2
TK1	P04183²^,³	MINT-8272905 I2D: score=2
ENSG00000237112	Q9UBS5³, ENSP00000411286⁴	I2D: score=1 STRING: ENSP00000411286
ENSG00000206466	Q9UBS5³	I2D: score=1

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0006810	transport	TAS	12617161
GO:0006950	response to stress	--	--
GO:0007584	response to nutrient	IEA	--
GO:0007596	blood coagulation	TAS	--

ALB 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, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ALB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ALB (ALBU)

10 HMDB Compounds for ALB About this table

Compound	Synonyms	CAS #	PubMed Ids
Bilirubin	(4Z,15Z)-Bilirubin IXa (see all 17)	635-65-4	18498776
Bismuth	Bi (see all 2)	7440-69-9	--
Chlorpheniramine	Chlor-trimeton (see all 8)	113-92-8	--
Estrone	(+)-Estrone (see all 7)	53-16-7	--
Estrone sulfate	Conestoral (see all 12)	481-97-0	--
Ibuprofen	alpha-(4-Isobutylphenyl)propionate (see all 9)	15687-27-1	--
Liothyronine	3,3',5-Triiodo-L-thyronine (see all 20)	6893-02-3	--
Pyridoxine	2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine (see all 16)	65-23-6	--
Sodium lauryl sulfate	Adeka Hope LS 35 (see all 243)	151-21-3	--
Testosterone	(+)-testosterone (see all 86)	58-22-0	--

10/134 DrugBank Compounds for ALB (see all 134) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sodium lauryl sulfate	Dodecyl alcohol, hydrogen sulfate, sodium salt (see all 27)	151-21-3	carrier	binder	16457837 16085141 16256620 16256532 11752352 16379295
Cefoperazone	Cefoperazono [inn-spanish] (see all 2)	62893-19-0	carrier	other/unknown	2311445 2496656 3339510 16379298 8950041
Phenprocoumon	Fenprocumone [DCIT] (see all 5)	435-97-2	carrier	--	1205658 1642965 4762907 2751413 12543492
Auranofin	--	34031-32-8	carrier	--	11666224 7925457 2403377 3655788
Captopril	Captoprilum [INN-Latin] (see all 3)	62571-86-2	carrier	other/unknown	16469467 8216349 9040098 15093593
Diflunisal	--	22494-42-4	carrier	--	17132209 11673972 7371361 2751413
Digitoxin	Digitoksin (see all 3)	71-63-6	carrier	--	11678517 10774625 10604823 10202961
Ethacrynic acid	Etacrinic acid (see all 6)	58-54-8	carrier	--	9275312 3714803 9863950 2792351
Gadobenate Dimeglumine	--	113662-23-0	carrier	binder	9055236 16118549 11752352 9406019
Gadofosveset trisodium	Ablavar (see all 4)	193901-90-5	carrier	substrate	16706555 19222207 17625839 17650553

10/140 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)

Search CenterWatch for drugs/clinical trials and news about ALB / ALBU

(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, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALB
		Sirion Biotech Custom design and validation of potent shRNA sequences against ALB

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		GenScript: all cDNA clones in your preferred vector: ALB (NM_000477)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALB

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ALB
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALB

Additional mRNA sequence: X51365.1

24/209 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

24/3197 AceView cDNA sequences (see all 3197):

CB154190 CB137645 AI114852 AA330058 BX445228 BG617320 AW779704 T40728

AU120853 T61204 BG569475 BG618550 D11974 CR594508 AL531773 CR617173

CB154103 CB154090 AI064742 BX462898 BG568563 BX423747 BX427484 CB117011

GeneLoc Exon Structure

5/10 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™, 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

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

About this image

ALB expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/22 selected tissues (see all 22) fully expand


Liver (Hepatobiliary System) fully expand to see all 16 entries
Mature Hepatocytes Liver Lobule
Immature hepatocyte-like cells (Hepatocyte-like cell differentiation from human embryonic...

Endoderm (Gastrulation Derivatives) fully expand to see all 4 entries
Hepatocyte-like cells (Generation of hepatocytes from human pluripotent stem cells)

Reproductive System (Reproductive System) fully expand to see all 3 entries
uterus, post-menopause ; glandular cells
cervix

Cartilage (Muscoskeletal System) fully expand to see all 3 entries
Primitive Streak Mesendoderm cells (Direct differentiation of human embryonic stem...

Endothelium (Cardiovascular System) fully expand to see all 2 entries
Embryoid bodies (Two-step protocol for endothelial differentiation by embryoid body...
colon ; endothelial cells

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

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

UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768

Tissue specificity: Plasma

SABiosciences Expression via Pathway-Focused 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

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALB

(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 chordates.

Orthologs for ALB gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Alb^{1 , 5}	albumin^{1, 5}	77.1(n)¹ 72.49(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
zebrafish (Danio rerio)	Actinopterygii	gc⁶	group-specific component (vitamin D binding protei...	20(a)	1 → many	5(47282879-47303096)

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)
About This Section

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

ALB 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

UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768

Polymorphism: 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	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_013011⁴		Familial dysalbuminemic hyperthyroxinemia (FDH)⁴	--	see VAR_013011	2	L P	mis⁴		0	--	--	--	--
VAR_000514⁴		Familial dysalbuminemic hyperthyroxinemia (FDH)⁴	--	see VAR_000514	2	R H	mis⁴		0	--	--	--	--
VAR_013013⁴		Familial dysalbuminemic hyperthyroxinemia (FDH)⁴	--	see VAR_013013	2	R P	mis⁴		0	--	--	--	--
rs77408163^1,2	C	pathogenic¹	74148127(+)	`TGCACA/GTAAGA`	1	--	spd¹		0	--	--	--	--
rs77892378^1,2	C	pathogenic¹	74150480(+)	`ATCACC/TTGTAA`	2	P L	mis¹		0	--	--	--	--
rs77335374^1,2	C	pathogenic¹	74155714(+)	`TTTTTA/G/TGGGCA`	1	--	spa¹		1		CSA	1
rs75002628^1,2	C	pathogenic¹	74155727(+)	`AGCTCA/C/GCCTGA`	3	H P R	mis¹		0	--	--	--	--
rs79228041^1,2	C	pathogenic¹	74163355(+)	`TTGCCA/GAGGAG`	2	K E	mis¹		0	--	--	--	--
rs76242087^1,2	C	untested¹	74157309(+)	`TAAGGA/G/TTGTTT`	3	D G V	mis¹		0	--	--	--	--
rs78284052^1,2,4	C,F	untested¹	74163244(+)	`AGCTCG/ATGAAA`	2	/M /V	mis¹		1		NA	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 ID	Type	Subtype	PubMed ID
dgv956e199	CNV	Deletion	23128226
esv274665	CNV	Insertion	20981092
nsv879491	CNV	Loss	21882294
nsv879490	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): ALB

Locus Specific Mutation Databases (LSDB): ALB

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALB

DNA2.0 Custom Variant and Variant Library Synthesis for ALB

(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

ALB for disorders           About GeneDecksing

OMIM gene information: 103600
OMIM disorders: 194470
UniProtKB/Swiss-Prot: ALBU_HUMAN, P02768

Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]: Form of euthyroid hyperthyroxinemia that is due

to increased affinity of ALB for T(4). It is the most common cause of inherited euthyroid hyperthyroxinemia in

Caucasian population. Note=The disease is caused by mutations affecting the gene represented in this entry

20/483 diseases for ALB (see all 483): About MalaCards

hepatorenal syndrome dysalbuminemic hyperthyroxinemia systemic capillary leak syndrome bilateral choanal atresia

blastomycosis kallikrein hypertension immunotactoid glomerulopathy congenital analbuminemia

dysalbuminemic hyperzincemia peritonitis protein-losing enteropathy metabolic acidosis

familial dysalbuminemic hyperthyroxinemia hepatopulmonary syndrome cronkhite-canada syndrome hypertensive retinopathy

tricuspid atresia scurvy peptic ulcer perforation acute generalized exanthematous pustulosis

20/69 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

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/96 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)
About This Section

PubMed articles for ALB gene, integrated from 9 sources (see all 8833):
(articles sorted by number of sources associating them with ALB)

Utopia: connect your pdf to the dynamic
world of online information

Crystal structures of human serum albumin complexed with monounsaturated and polyunsaturated fatty acids. (PubMed id 11743713)^{1, 2, 7} Petitpas I.... Curry S. (2001)
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. (PubMed id 7852505)^{1, 2, 9} Rushbrook J.I.... Divino C.M. (1995)
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. (2001)
Crystal structure of human serum albumin at 2.5-A resolution. (PubMed id 10388840)^{1, 2, 9} Sugio S.... Kobayashi K. (1999)
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. (1993)
Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions. (PubMed id 1347703)^{1, 2, 9} Minchiotti L.... Porta F. (1992)
Genetic variants of serum albumin in Americans and Japanese. (PubMed id 1946412)^{1, 2, 9} Madison J.... Putnam F.W. (1991)
Allostery in a monomeric protein: the case of human s erum albumin. (PubMed id 20346571)^{1, 7} Ascenzi P. and Fasano M. (2010)
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)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 213	HGNC: 399	AceView: ALB	Ensembl:ENSG00000163631	euGenes: HUgn213
ECgene: ALB	H-InvDB: ALB

(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

Name	Description
PharmGKB entry for ALB	Pharmacogenomics, SNPs, Pathways
Albumin Website	http://www.albumin.org
Wikipedia	http://en.wikipedia.org/wiki/Serum_albumin
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALB
SeattleSNPs	http://pga.gs.washington.edu/data/alb/

Intellectual Property for ALB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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Microalbuminuria
Severe malnutrition
Protein-Energy Malnutrition
essential hypertension
sepsis
Peripheral Vascular Diseases
Hepatitis Chronic
Nephropathy Membranous
Bisalbuminemia
Atherosclerosis
PROTEIN MALNUTRITION
Liver diseases
Hyperparathyroidism Secondary
Edema
Nephrotic Syndrome
BILIARY CIRRHOSIS PRIMARY
ENCEPHALOPATHY
Diabetes Mellitus Insulin-Dependent
Hypotension
Hepatitis B Chronic
RENAL DISEASE
Hypercalcemia
Esophageal Varices
Bronchoalveolar Lavage Fluid
Alcoholic Cirrhosis
Nephropathy IGA
Liver Failure
GENERALIZED EDEMA
Malnutrition
glomerulosclerosis
Inflammation
GLOMERULOSCLEROSIS, FOCAL SEGMENTAL
Diabetic Nephropathies
NEPHROPATHY HYPERTENSIVE
Proteinuria
Microangiopathy Diabetic
Marasmus
metabolic acidosis
Hyperhomocysteinemia
Liver Failure Acute
Hyperglycemia
Anemia
Hepatitis B
Hepatitis Alcoholic
Renal Failure
LIVER DAMAGE
nutritional deficiency
bacterial peritonitis
Kernicterus
AUTONOMIC NEUROPATHY
Cardiovascular Diseases
Liver Cirrhosis
Hyperthyroxinemia
Renal Failure Acute
Nephrotic Syndrome Minimal Change
Hypocalcemia
Cirrhosis
Critically Ill
Chronic glomerulonephritis
fluid overload
Liver Fibrosis
Glomerulosclerosis Diabetic
Hepatic Encephalopathy
Idiopathic Membranous Nephropathy
PERIPHERAL EDEMA
retinopathy
Diabetes Mellitus
Diabetic Retinopathy
hypoalbuminemia
Vitamin D Deficiency
Ovarian Hyperstimulation Syndrome
HEPATOCELLULAR CARCINOMA
Hepatorenal Syndrome
Uremia
Albuminuria
Hypertension Portal
Response Acute Phase
Ascites
Insulin Resistance
Liver Dysfunction
Hypoproteinemia
Liver Diseases Alcoholic
Hypovolemia
Hepatopulmonary Syndrome
ventricular hypertrophy
KIDNEY DYSFUNCTION
HYPOCHOLESTEROLEMIA
Lupus Nephritis
chronic liver disease
Glomerulonephritis
Hyperbilirubinemia
HYPOPROTEINEMIA, HYPERCATABOLIC
NIDDM
Peritonitis
Renal Failure Chronic
Protein-Losing Enteropathies

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ALB Gene

Albumin

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