• Gene id: 51327

Gene Summary

• Gene Symbol: AHSP   Gene   UCSC   Ensembl
• Aliases: EDRF, ERAF
• Gene name: alpha hemoglobin stabilizing protein
• Alternate names: alpha-hemoglobin-stabilizing protein, alpha hemoglobin stabilising protein, erythroid differentiation associated factor, erythroid differentiation-related factor,
• Gene location: 16p11.2 (45973864: 45933733)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 605821

Protein Summary

• Protein general information: Q9NZD4  
  • Name: Alpha hemoglobin stabilizing protein (Erythroid differentiation related factor) (Erythroid associated factor)
  • Length: 102  
  • Mass: 11840
  • Tissue specificity: Expressed in blood and bone marrow. {ECO
• Sequence:

  MALLKANKDLISAGLKEFSVLLNQQVFNDPLVSEEDMVTVVEDWMNFYINYYRQQVTGEPQERDKALQELRQELN
  TLANPFLAKYRDFLKSHELPSHPPPSS

• Structural information:
  • Interpro: IPR015317  IPR036468  
  • PDB: 1W09 1W0A 1W0B 1XZY 1Y01 1Z8U 3IA3 3OVU
  • PDBsum: 1W09 1W0A 1W0B 1XZY 1Y01 1Z8U 3IA3 3OVU
  • DIP: 35198
  • STRING: ENSP00000307199
• Other Databases: GeneCards:  AHSP  Malacards:  AHSP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050821	protein stabilization	IBA	biological process
GO:0030218	erythrocyte differentiation	IBA	biological process
GO:0006457	protein folding	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006457	protein folding	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0030492	hemoglobin binding	IEA	molecular function
GO:0050821	protein stabilization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030097	hemopoiesis	NAS	biological process
GO:0020027	hemoglobin metabolic process	NAS	biological process
GO:0005833	hemoglobin complex	NAS	cellular component
GO:0051082	unfolded protein binding	NAS	molecular function
GO:0030492	hemoglobin binding	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881