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Protein

Alpha-2-HS-glycoprotein

Gene

AHSG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.

GO - Molecular functioni

  • cysteine-type endopeptidase inhibitor activity Source: InterPro
  • kinase inhibitor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processMineral balance

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-6798695 Neutrophil degranulation
R-HSA-8957275 Post-translational protein phosphorylation

Protein family/group databases

MEROPSiI25.020

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-2-HS-glycoprotein
Alternative name(s):
Alpha-2-Z-globulin
Ba-alpha-2-glycoprotein
Fetuin-A
Cleaved into the following 2 chains:
Gene namesi
Name:AHSG
Synonyms:FETUA
ORF Names:PRO2743
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000145192.12
HGNCiHGNC:349 AHSG
MIMi138680 gene
neXtProtiNX_P02765

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Alopecia-mental retardation syndrome 1 (APMR1)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe mental retardation.
See also OMIM:203650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080645317R → H in APMR1; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Hypotrichosis, Mental retardation

Organism-specific databases

DisGeNETi197
MalaCardsiAHSG
MIMi203650 phenotype
OpenTargetsiENSG00000145192
Orphaneti2850 Alopecia-intellectual disability syndrome
PharmGKBiPA24642

Polymorphism and mutation databases

BioMutaiAHSG
DMDMi112910

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 182 PublicationsAdd BLAST18
ChainiPRO_000000888719 – 300Alpha-2-HS-glycoprotein chain A1 PublicationAdd BLAST282
PropeptideiPRO_0000008888301 – 340Connecting peptide1 PublicationAdd BLAST40
ChainiPRO_0000008889341 – 367Alpha-2-HS-glycoprotein chain BAdd BLAST27

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi32 ↔ 358Interchain (between A and B chains)
Disulfide bondi89 ↔ 100PROSITE-ProRule annotation1 Publication
Disulfide bondi114 ↔ 132PROSITE-ProRule annotation1 Publication
Modified residuei134PhosphoserineCombined sources1
Modified residuei135Phosphoserine; by FAM20C1 Publication1
Modified residuei138Phosphoserine; by FAM20CCombined sources2 Publications1
Disulfide bondi146 ↔ 149PROSITE-ProRule annotation1 Publication
GlycosylationiCAR_000064156N-linked (GlcNAc...) (complex) asparagine7 Publications1
GlycosylationiCAR_000065176N-linked (GlcNAc...) (complex) asparagine5 Publications1
Disulfide bondi208 ↔ 219PROSITE-ProRule annotation1 Publication
Disulfide bondi230 ↔ 247PROSITE-ProRule annotation1 Publication
GlycosylationiCAR_000067270O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi280O-linked (GalNAc...) serineSequence analysis1
Glycosylationi293O-linked (GalNAc...) serineSequence analysis1
Modified residuei319Phosphothreonine; by FAM20CCombined sources1 Publication1
Modified residuei325Phosphoserine; by FAM20C1 Publication1
Modified residuei328Phosphoserine; by FAM20C1 Publication1
Modified residuei330Phosphoserine; by FAM20CCombined sources2 Publications1
Glycosylationi339O-linked (GalNAc...) threonineBy similarity1
Glycosylationi341O-linked (GalNAc...) threonineSequence analysis1
GlycosylationiCAR_000068346O-linked (GalNAc...) serine1 Publication1

Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.2 Publications
O- and N-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan at Asn-156: Hex5HexNAc4; N-glycan heterogeneity at Asn-176: Hex5HexNAc4 (major) and Hex6HexNAc5 (minor).8 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP02765
PaxDbiP02765
PeptideAtlasiP02765
PRIDEiP02765
ProteomicsDBi51585
TopDownProteomicsiP02765

2D gel databases

DOSAC-COBS-2DPAGEiP02765
SWISS-2DPAGEiP02765

PTM databases

CarbonylDBiP02765
GlyConnecti23
iPTMnetiP02765
PhosphoSitePlusiP02765
UniCarbKBiP02765

Miscellaneous databases

PMAP-CutDBiP02765

Expressioni

Tissue specificityi

Synthesized in liver and selectively concentrated in bone matrix. Secreted in plasma. It is also found in dentin in much higher quantities than other plasma proteins.

Gene expression databases

BgeeiENSG00000145192 Expressed in 115 organ(s), highest expression level in liver
CleanExiHS_AHSG
ExpressionAtlasiP02765 baseline and differential
GenevisibleiP02765 HS

Organism-specific databases

HPAiCAB026209
HPA001524
HPA001525

Interactioni

Subunit structurei

Alpha-2-HS glycoprotein derives from this precursor, when the connecting peptide is cleaved off. The two chains A and B are held together by a single disulfide bond.

Protein-protein interaction databases

BioGridi106700, 22 interactors
IntActiP02765, 17 interactors
STRINGi9606.ENSP00000393887

Structurei

3D structure databases

ProteinModelPortaliP02765
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 133Cystatin fetuin-A-type 1PROSITE-ProRule annotationAdd BLAST107
Domaini144 – 255Cystatin fetuin-A-type 2PROSITE-ProRule annotationAdd BLAST112

Sequence similaritiesi

Belongs to the fetuin family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IK8F Eukaryota
ENOG4111RIP LUCA
GeneTreeiENSGT00530000063413
HOVERGENiHBG051607
InParanoidiP02765
PhylomeDBiP02765
TreeFamiTF333729

Family and domain databases

CDDicd00042 CY, 2 hits
InterProiView protein in InterPro
IPR000010 Cystatin_dom
IPR025760 Cystatin_Fetuin_A
IPR001363 Prot_inh_fetuin_CS
PfamiView protein in Pfam
PF00031 Cystatin, 1 hit
SMARTiView protein in SMART
SM00043 CY, 2 hits
PROSITEiView protein in PROSITE
PS51529 CYSTATIN_FETUIN_A, 2 hits
PS01254 FETUIN_1, 1 hit
PS01255 FETUIN_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P02765-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKSLVLLLCL AQLWGCHSAP HGPGLIYRQP NCDDPETEEA ALVAIDYINQ
60 70 80 90 100
NLPWGYKHTL NQIDEVKVWP QQPSGELFEI EIDTLETTCH VLDPTPVARC
110 120 130 140 150
SVRQLKEHAV EGDCDFQLLK LDGKFSVVYA KCDSSPDSAE DVRKVCQDCP
160 170 180 190 200
LLAPLNDTRV VHAAKAALAA FNAQNNGSNF QLEEISRAQL VPLPPSTYVE
210 220 230 240 250
FTVSGTDCVA KEATEAAKCN LLAEKQYGFC KATLSEKLGG AEVAVTCMVF
260 270 280 290 300
QTQPVSSQPQ PEGANEAVPT PVVDPDAPPS PPLGAPGLPP AGSPPDSHVL
310 320 330 340 350
LAAPPGHQLH RAHYDLRHTF MGVVSLGSPS GEVSHPRKTR TVVQPSVGAA
360
AGPVVPPCPG RIRHFKV
Length:367
Mass (Da):39,341
Last modified:September 12, 2018 - v2
Checksum:i3FE60C8D6B6272D5
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JV77C9JV77_HUMAN
Alpha-2-HS-glycoprotein
AHSG
368Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16C → W in BAA22652 (PubMed:9322749).Curated1
Sequence conflicti54W → K AA sequence (PubMed:3944104).Curated1
Sequence conflicti125F → S in BAA22651 (PubMed:9003486).Curated1
Sequence conflicti150 – 182PLLAP…SNFQL → MVGWQEGANHKNGAGRSQKQ EMAEKMVPEVASG in AAF69649 (Ref. 12) CuratedAdd BLAST33
Sequence conflicti204S → C in BAA22652 (PubMed:9322749).Curated1

Polymorphismi

There are two common alleles, AHSG*1 and AHSG*2. AHSG*1 has Thr-248/Thr-256; AHSG*2 has Met-248/Ser-256.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055802142V → L. Corresponds to variant dbSNP:rs7633550Ensembl.1
Natural variantiVAR_002388248M → T in allele AHSG*1. 1 PublicationCorresponds to variant dbSNP:rs4917EnsemblClinVar.1
Natural variantiVAR_002389256S → T in allele AHSG*1. 2 PublicationsCorresponds to variant dbSNP:rs4918EnsemblClinVar.1
Natural variantiVAR_012474276D → N in allele AHSG*5. 1 PublicationCorresponds to variant dbSNP:rs70961709Ensembl.1
Natural variantiVAR_012475317R → C in allele AHSG*3. 1 PublicationCorresponds to variant dbSNP:rs35457250Ensembl.1
Natural variantiVAR_080645317R → H in APMR1; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M16961 mRNA Translation: AAA51683.1
D67013 Genomic DNA Translation: BAA22652.1
AB038689 Genomic DNA Translation: BAA92189.1
AK292751 mRNA Translation: BAF85440.1
AK312969 mRNA Translation: BAG35808.1
AC068631 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78189.1
BC048198 mRNA Translation: AAH48198.1
BC052590 mRNA Translation: AAH52590.1
D67012 mRNA Translation: BAA22651.1
AF119895 mRNA Translation: AAF69649.1
CCDSiCCDS3278.1
PIRiA29081 WOHU
RefSeqiNP_001613.2, NM_001622.2
UniGeneiHs.324746

Genome annotation databases

EnsembliENST00000411641; ENSP00000393887; ENSG00000145192
GeneIDi197
KEGGihsa:197
UCSCiuc003fqk.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M16961 mRNA Translation: AAA51683.1
D67013 Genomic DNA Translation: BAA22652.1
AB038689 Genomic DNA Translation: BAA92189.1
AK292751 mRNA Translation: BAF85440.1
AK312969 mRNA Translation: BAG35808.1
AC068631 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78189.1
BC048198 mRNA Translation: AAH48198.1
BC052590 mRNA Translation: AAH52590.1
D67012 mRNA Translation: BAA22651.1
AF119895 mRNA Translation: AAF69649.1
CCDSiCCDS3278.1
PIRiA29081 WOHU
RefSeqiNP_001613.2, NM_001622.2
UniGeneiHs.324746

3D structure databases

ProteinModelPortaliP02765
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106700, 22 interactors
IntActiP02765, 17 interactors
STRINGi9606.ENSP00000393887

Protein family/group databases

MEROPSiI25.020

PTM databases

CarbonylDBiP02765
GlyConnecti23
iPTMnetiP02765
PhosphoSitePlusiP02765
UniCarbKBiP02765

Polymorphism and mutation databases

BioMutaiAHSG
DMDMi112910

2D gel databases

DOSAC-COBS-2DPAGEiP02765
SWISS-2DPAGEiP02765

Proteomic databases

MaxQBiP02765
PaxDbiP02765
PeptideAtlasiP02765
PRIDEiP02765
ProteomicsDBi51585
TopDownProteomicsiP02765

Protocols and materials databases

DNASUi197
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000411641; ENSP00000393887; ENSG00000145192
GeneIDi197
KEGGihsa:197
UCSCiuc003fqk.5 human

Organism-specific databases

CTDi197
DisGeNETi197
EuPathDBiHostDB:ENSG00000145192.12
GeneCardsiAHSG
H-InvDBiHIX0024338
HGNCiHGNC:349 AHSG
HPAiCAB026209
HPA001524
HPA001525
MalaCardsiAHSG
MIMi138680 gene
203650 phenotype
neXtProtiNX_P02765
OpenTargetsiENSG00000145192
Orphaneti2850 Alopecia-intellectual disability syndrome
PharmGKBiPA24642
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK8F Eukaryota
ENOG4111RIP LUCA
GeneTreeiENSGT00530000063413
HOVERGENiHBG051607
InParanoidiP02765
PhylomeDBiP02765
TreeFamiTF333729

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-6798695 Neutrophil degranulation
R-HSA-8957275 Post-translational protein phosphorylation

Miscellaneous databases

ChiTaRSiAHSG human
GeneWikiiAlpha-2-HS-glycoprotein
GenomeRNAii197
PMAP-CutDBiP02765
PROiPR:P02765
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145192 Expressed in 115 organ(s), highest expression level in liver
CleanExiHS_AHSG
ExpressionAtlasiP02765 baseline and differential
GenevisibleiP02765 HS

Family and domain databases

CDDicd00042 CY, 2 hits
InterProiView protein in InterPro
IPR000010 Cystatin_dom
IPR025760 Cystatin_Fetuin_A
IPR001363 Prot_inh_fetuin_CS
PfamiView protein in Pfam
PF00031 Cystatin, 1 hit
SMARTiView protein in SMART
SM00043 CY, 2 hits
PROSITEiView protein in PROSITE
PS51529 CYSTATIN_FETUIN_A, 2 hits
PS01254 FETUIN_1, 1 hit
PS01255 FETUIN_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFETUA_HUMAN
AccessioniPrimary (citable) accession number: P02765
Secondary accession number(s): A8K9N6
, B2R7G1, O14961, O14962, Q9P152
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: September 12, 2018
Last modified: November 7, 2018
This is version 201 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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