AHSP (alpha hemoglobin stabilizing protein)

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Gene Gene information from NCBI Gene database.
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Entrez ID 51327
Gene name Alpha hemoglobin stabilizing protein
Gene symbol AHSP
Synonyms (NCBI Gene)
EDRFERAF
Chromosome 16
Chromosome location 16p11.2
Summary This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15550245, 16189514, 25156257, 25416956, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005833 Component Hemoglobin complex NAS 12066189
GO:0006457 Process Protein folding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
605821 18075 ENSG00000169877
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZD4
Protein name Alpha-hemoglobin-stabilizing protein (Erythroid differentiation-related factor) (Erythroid-associated factor)
Protein function 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-hemoglo
PDB 1W09 , 1W0A , 1W0B , 1XZY , 1Y01 , 1Z8U , 3IA3 , 3OVU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09236 AHSP 5 → 91 Alpha-haemoglobin stabilising protein Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in blood and bone marrow. {ECO:0000269|PubMed:11231637, ECO:0000269|PubMed:12066189}.
Sequence 
MALLKANKDLISAGLKEFSVLLNQQVFNDPLVSEEDMVTVVEDWMNFYINYYRQQVTGEP
QERDKALQELRQELNTLANPFLAKYRDFLKSHELPSHPPPSS
Sequence length 102
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
AHSP-related disorder Uncertain significance; Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (25)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
alpha Thalassemia Alpha thalassemia Pubtator 25730315, 32751969 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 28337528
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 19349619 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 20063986
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 26460260
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28127812, 30912155
★★★★★
★☆☆☆☆
Found in Text Mining only
beta Thalassemia Beta thalassemia Pubtator 14715623, 16704446, 17874450, 32751969, 36618286, 40655320 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia BEFREE 14715623, 16019463, 16339656, 17052927, 17874450, 20627634, 21142933, 26142324, 26460260, 31190133
★★★★★
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia LHGDN 17874450
★★★★★
★☆☆☆☆
Found in Text Mining only
beta Thalassemia Beta thalassemia Pubtator 29365317 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for AHSP.

No additional diseases found yet through genes similar to AHSP.