UniProtKB - Q9NZD4 (AHSP_HUMAN)
Protein
Alpha-hemoglobin-stabilizing protein
Gene
AHSP
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia.1 Publication
GO - Molecular functioni
- hemoglobin binding Source: UniProtKB
- unfolded protein binding Source: UniProtKB
GO - Biological processi
- erythrocyte differentiation Source: GO_Central
- hemoglobin metabolic process Source: UniProtKB
- hemopoiesis Source: UniProtKB
- protein folding Source: GO_Central
- protein stabilization Source: GO_Central
Keywordsi
Molecular function | Chaperone |
Enzyme and pathway databases
PathwayCommonsi | Q9NZD4 |
SIGNORi | Q9NZD4 |
Names & Taxonomyi
Protein namesi | Recommended name: Alpha-hemoglobin-stabilizing proteinAlternative name(s): Erythroid differentiation-related factor Erythroid-associated factor |
Gene namesi | Name:AHSP Synonyms:EDRF, ERAF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18075, AHSP |
MIMi | 605821, gene |
neXtProti | NX_Q9NZD4 |
VEuPathDBi | HostDB:ENSG00000169877.9 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
Cytosol
- hemoglobin complex Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 51327 |
OpenTargetsi | ENSG00000169877 |
PharmGKBi | PA27842 |
Miscellaneous databases
Pharosi | Q9NZD4, Tbio |
Chemistry databases
DrugBanki | DB14490, Ferrous ascorbate DB14491, Ferrous fumarate DB14488, Ferrous gluconate DB14501, Ferrous glycine sulfate DB14489, Ferrous succinate DB01592, Iron |
Genetic variation databases
BioMutai | AHSP |
DMDMi | 23813669 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064509 | 1 – 102 | Alpha-hemoglobin-stabilizing proteinAdd BLAST | 102 |
Proteomic databases
MassIVEi | Q9NZD4 |
PaxDbi | Q9NZD4 |
PeptideAtlasi | Q9NZD4 |
PRIDEi | Q9NZD4 |
ProteomicsDBi | 83376 |
TopDownProteomicsi | Q9NZD4 |
Expressioni
Tissue specificityi
Expressed in blood and bone marrow.2 Publications
Inductioni
By GATA1 during erythroid maturation.
Gene expression databases
Bgeei | ENSG00000169877, Expressed in liver and 118 other tissues |
ExpressionAtlasi | Q9NZD4, baseline and differential |
Genevisiblei | Q9NZD4, HS |
Organism-specific databases
HPAi | ENSG00000169877, Tissue enriched (bone) |
Interactioni
Subunit structurei
Monomer.
Forms a heterodimer with free alpha-hemoglobin. Does not bind beta-hemoglobin nor alpha2beta2 hemoglobin A.
2 PublicationsBinary interactionsi
Hide detailsQ9NZD4
GO - Molecular functioni
- hemoglobin binding Source: UniProtKB
- unfolded protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 119476, 13 interactors |
DIPi | DIP-35198N |
IntActi | Q9NZD4, 10 interactors |
STRINGi | 9606.ENSP00000307199 |
Miscellaneous databases
RNActi | Q9NZD4, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q9NZD4 |
SMRi | Q9NZD4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9NZD4 |
Family & Domainsi
Sequence similaritiesi
Belongs to the AHSP family.Curated
Phylogenomic databases
eggNOGi | ENOG502SXDF, Eukaryota |
GeneTreei | ENSGT00390000003648 |
HOGENOMi | CLU_188032_0_0_1 |
InParanoidi | Q9NZD4 |
OMAi | TVVNDWV |
OrthoDBi | 1573941at2759 |
PhylomeDBi | Q9NZD4 |
TreeFami | TF337056 |
Family and domain databases
InterProi | View protein in InterPro IPR015317, A_Hb_stabilising_prot IPR036468, AHSP_sf |
PANTHERi | PTHR15914, PTHR15914, 1 hit |
Pfami | View protein in Pfam PF09236, AHSP, 1 hit |
SUPFAMi | SSF109751, SSF109751, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9NZD4-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MALLKANKDL ISAGLKEFSV LLNQQVFNDP LVSEEDMVTV VEDWMNFYIN
60 70 80 90 100
YYRQQVTGEP QERDKALQEL RQELNTLANP FLAKYRDFLK SHELPSHPPP
SS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH3BSK6 | H3BSK6_HUMAN | Alpha-hemoglobin-stabilizing protei... | AHSP | 57 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 32 | V → A in AAL82894 (Ref. 3) Curated | 1 | |
Sequence conflicti | 87 | D → N in AAL82894 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050650 | 100 | P → T. Corresponds to variant dbSNP:rs36018996EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF364517 mRNA Translation: AAK50856.1 AF208865 mRNA Translation: AAF64279.1 AY072612 Genomic DNA Translation: AAL82894.1 AF485325 Genomic DNA Translation: AAO49381.1 BC035842 mRNA Translation: AAH35842.1 |
CCDSi | CCDS10716.1 |
RefSeqi | NP_001305150.1, NM_001318221.1 NP_001305151.1, NM_001318222.1 NP_057717.1, NM_016633.3 |
Genome annotation databases
Ensembli | ENST00000302312; ENSP00000307199; ENSG00000169877 |
GeneIDi | 51327 |
KEGGi | hsa:51327 |
UCSCi | uc002ecj.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF364517 mRNA Translation: AAK50856.1 AF208865 mRNA Translation: AAF64279.1 AY072612 Genomic DNA Translation: AAL82894.1 AF485325 Genomic DNA Translation: AAO49381.1 BC035842 mRNA Translation: AAH35842.1 |
CCDSi | CCDS10716.1 |
RefSeqi | NP_001305150.1, NM_001318221.1 NP_001305151.1, NM_001318222.1 NP_057717.1, NM_016633.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1W09 | NMR | - | A | 3-94 | [»] | |
1W0A | NMR | - | A | 3-94 | [»] | |
1W0B | NMR | - | A | 2-102 | [»] | |
1XZY | NMR | - | A | 1-90 | [»] | |
1Y01 | X-ray | 2.80 | A | 1-102 | [»] | |
1Z8U | X-ray | 2.40 | A/C | 1-102 | [»] | |
3IA3 | X-ray | 3.20 | A/C | 1-91 | [»] | |
3OVU | X-ray | 2.83 | A | 2-102 | [»] | |
BMRBi | Q9NZD4 | |||||
SMRi | Q9NZD4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119476, 13 interactors |
DIPi | DIP-35198N |
IntActi | Q9NZD4, 10 interactors |
STRINGi | 9606.ENSP00000307199 |
Chemistry databases
DrugBanki | DB14490, Ferrous ascorbate DB14491, Ferrous fumarate DB14488, Ferrous gluconate DB14501, Ferrous glycine sulfate DB14489, Ferrous succinate DB01592, Iron |
Genetic variation databases
BioMutai | AHSP |
DMDMi | 23813669 |
Proteomic databases
MassIVEi | Q9NZD4 |
PaxDbi | Q9NZD4 |
PeptideAtlasi | Q9NZD4 |
PRIDEi | Q9NZD4 |
ProteomicsDBi | 83376 |
TopDownProteomicsi | Q9NZD4 |
Protocols and materials databases
Antibodypediai | 27920, 180 antibodies |
DNASUi | 51327 |
Genome annotation databases
Ensembli | ENST00000302312; ENSP00000307199; ENSG00000169877 |
GeneIDi | 51327 |
KEGGi | hsa:51327 |
UCSCi | uc002ecj.4, human |
Organism-specific databases
CTDi | 51327 |
DisGeNETi | 51327 |
GeneCardsi | AHSP |
HGNCi | HGNC:18075, AHSP |
HPAi | ENSG00000169877, Tissue enriched (bone) |
MIMi | 605821, gene |
neXtProti | NX_Q9NZD4 |
OpenTargetsi | ENSG00000169877 |
PharmGKBi | PA27842 |
VEuPathDBi | HostDB:ENSG00000169877.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SXDF, Eukaryota |
GeneTreei | ENSGT00390000003648 |
HOGENOMi | CLU_188032_0_0_1 |
InParanoidi | Q9NZD4 |
OMAi | TVVNDWV |
OrthoDBi | 1573941at2759 |
PhylomeDBi | Q9NZD4 |
TreeFami | TF337056 |
Enzyme and pathway databases
PathwayCommonsi | Q9NZD4 |
SIGNORi | Q9NZD4 |
Miscellaneous databases
BioGRID-ORCSi | 51327, 2 hits in 873 CRISPR screens |
ChiTaRSi | AHSP, human |
EvolutionaryTracei | Q9NZD4 |
GeneWikii | ERAF |
GenomeRNAii | 51327 |
Pharosi | Q9NZD4, Tbio |
PROi | PR:Q9NZD4 |
RNActi | Q9NZD4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000169877, Expressed in liver and 118 other tissues |
ExpressionAtlasi | Q9NZD4, baseline and differential |
Genevisiblei | Q9NZD4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR015317, A_Hb_stabilising_prot IPR036468, AHSP_sf |
PANTHERi | PTHR15914, PTHR15914, 1 hit |
Pfami | View protein in Pfam PF09236, AHSP, 1 hit |
SUPFAMi | SSF109751, SSF109751, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AHSP_HUMAN | |
Accessioni | Q9NZD4Primary (citable) accession number: Q9NZD4 Secondary accession number(s): Q8TD01 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families