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 turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcri... See more...

Aliases for AHSP Gene

Aliases for AHSP Gene

  • Alpha Hemoglobin Stabilizing Protein 2 3 5
  • EDRF 2 3 4
  • Erythroid Differentiation-Related Factor 3 4
  • Alpha Hemoglobin Stabilising Protein 2 3
  • Alpha-Hemoglobin-Stabilizing Protein 3 4
  • ERAF 3 4
  • Erythroid Differentiation Associated Factor 3
  • Erythroid Associated Factor 2
  • Erythroid-Associated Factor 4
  • AHSP 5

External Ids for AHSP Gene

Previous HGNC Symbols for AHSP Gene

  • ERAF

Previous GeneCards Identifiers for AHSP Gene

  • GC16P031447
  • GC16P031540
  • GC16P029099

Summaries for AHSP Gene

Entrez Gene Summary for AHSP Gene

  • 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 turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for AHSP Gene

AHSP (Alpha Hemoglobin Stabilizing Protein) is a Protein Coding gene. Diseases associated with AHSP include Beta-Thalassemia and Thalassemia. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and hemoglobin binding.

UniProtKB/Swiss-Prot Summary for AHSP Gene

  • 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.

Gene Wiki entry for AHSP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHSP Gene

Genomics for AHSP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AHSP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J031527 Promoter/Enhancer 1 EPDnew ENCODE 600.7 +0.9 905 2.6 IKZF1 EZH2 TCF12 EP300 NRF1 ZNF316 MAFF MAFK TBL1XR1 NCOR1 AHSP ENSG00000260740 LINC02190 piR-57133-232 ZNF720
GH16J031535 Enhancer 0.7 ENCODE 0.4 +8.0 8019 0.6 LEF1 IKZF1 PKNOX1 DPF2 HDAC1 SOX6 FOXJ2 TCF12 EP300 CTBP1 RF00017-2055 RUSF1 ENSG00000260740 PRR14 AHSP piR-30465-013 ZNF720
GH16J031522 Promoter/Enhancer 0.6 EPDnew Ensembl 0.4 -6.2 -6199 1.8 ZNF316 RUSF1 TGFB1I1 ARMC5 SLC5A2 ENSG00000260740 CLUHP3 ZNF720 LINC02190 FJ601684-152 AHSP
GH16J031512 Enhancer 0.6 Ensembl ENCODE 0.4 -14.5 -14503 1.6 PRDM4 ATM ZNF366 ENSG00000260740 RF00017-2054 RUSF1 ENSG00000260625 FJ601684-152 AHSP
GH16J031699 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 0.1 +173.2 173181 2.2 SP1 HNRNPL CREB1 ATF7 TFE3 NFKBIZ POLR2A ZNF7 FOS LARP7 CLUHP3 ENSG00000260568 lnc-ZNF720-1 ENSG00000260304 SETD1A ENSG00000260267 ENSG00000276867 ZNF720 AHSP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHSP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHSP

Genomic Locations for AHSP Gene

Genomic Locations for AHSP Gene
chr16:31,527,900-31,528,804
(GRCh38/hg38)
Size:
905 bases
Orientation:
Plus strand
chr16:31,539,185-31,540,124
(GRCh37/hg19)
Size:
940 bases
Orientation:
Plus strand

Genomic View for AHSP Gene

Genes around AHSP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHSP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHSP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHSP Gene

Proteins for AHSP Gene

  • Protein details for AHSP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZD4-AHSP_HUMAN
    Recommended name:
    Alpha-hemoglobin-stabilizing protein
    Protein Accession:
    Q9NZD4
    Secondary Accessions:
    • Q8TD01

    Protein attributes for AHSP Gene

    Size:
    102 amino acids
    Molecular mass:
    11840 Da
    Quaternary structure:
    • Monomer. Forms a heterodimer with free alpha-hemoglobin. Does not bind beta-hemoglobin nor alpha(2)beta(2) hemoglobin A.

    Three dimensional structures from OCA and Proteopedia for AHSP Gene

neXtProt entry for AHSP Gene

Post-translational modifications for AHSP Gene

No Post-translational modifications

Other Protein References for AHSP Gene

No data available for DME Specific Peptides for AHSP Gene

Domains & Families for AHSP Gene

Gene Families for AHSP Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AHSP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHSP Gene

GenScript: Design optimal peptide antigens:
  • Erythroid-associated factor (AHSP_HUMAN)
  • Erythroid differentiation-related factor EDRF (Q549J4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZD4

UniProtKB/Swiss-Prot:

AHSP_HUMAN :
  • Belongs to the AHSP family.
Family:
  • Belongs to the AHSP family.
genes like me logo Genes that share domains with AHSP: view

Function for AHSP Gene

Molecular function for AHSP Gene

UniProtKB/Swiss-Prot 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-hemoglobin excess such as beta-thalassemia.
UniProtKB/Swiss-Prot Induction:
By GATA1 during erythroid maturation.

Phenotypes From GWAS Catalog for AHSP Gene

Gene Ontology (GO) - Molecular Function for AHSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15550245
GO:0030492 hemoglobin binding IEA,NAS 12066189
GO:0051082 unfolded protein binding NAS 12066189
genes like me logo Genes that share ontologies with AHSP: view
genes like me logo Genes that share phenotypes with AHSP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHSP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AHSP Gene

Localization for AHSP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHSP Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHSP gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AHSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005833 hemoglobin complex NAS 12066189
genes like me logo Genes that share ontologies with AHSP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AHSP Gene

Pathways & Interactions for AHSP Gene

PathCards logo

SuperPathways for AHSP Gene

No Data Available

SIGNOR curated interactions for AHSP Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AHSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA,IBA 21873635
GO:0020027 hemoglobin metabolic process NAS 12066189
GO:0030097 hemopoiesis NAS 12066189
GO:0030218 erythrocyte differentiation IEA,IBA 21873635
GO:0050821 protein stabilization IEA,IBA 21873635
genes like me logo Genes that share ontologies with AHSP: view

No data available for Pathways by source for AHSP Gene

Drugs & Compounds for AHSP Gene

(45) Drugs for AHSP Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma Target 1560
Ferrous ascorbate Approved Pharma Target 0
Ferrous fumarate Approved Pharma Target 86
Ferrous gluconate Approved Pharma Target 10
Ferrous glycine sulfate Approved Pharma Target 0

(27) Additional Compounds for AHSP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AHSP: view

Transcripts for AHSP Gene

mRNA/cDNA for AHSP Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHSP

Alternative Splicing Database (ASD) splice patterns (SP) for AHSP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for AHSP Gene

GeneLoc Exon Structure for
AHSP

Expression for AHSP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AHSP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AHSP Gene

This gene is overexpressed in Whole Blood (x48.7).

Protein differential expression in normal tissues from HIPED for AHSP Gene

This gene is overexpressed in Fetal Liver (32.4) and Nasal epithelium (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AHSP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHSP

SOURCE GeneReport for Unigene cluster for AHSP Gene:

Hs.274309

mRNA Expression by UniProt/SwissProt for AHSP Gene:

Q9NZD4-AHSP_HUMAN
Tissue specificity: Expressed in blood and bone marrow.

Evidence on tissue expression from TISSUES for AHSP Gene

  • Blood(4.7)
  • Bone marrow(3.4)
  • Liver(2.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with AHSP: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AHSP Gene

Orthologs for AHSP Gene

This gene was present in the common ancestor of mammals.

Orthologs for AHSP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AHSP 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AHSP 30 31
  • 81.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AHSP 30 31
  • 81.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ahsp 30
  • 75.82 (n)
Oppossum
(Monodelphis domestica)
Mammalia AHSP 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AHSP 31
  • 40 (a)
OneToOne
Species where no ortholog for AHSP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for AHSP Gene

ENSEMBL:
Gene Tree for AHSP (if available)
TreeFam:
Gene Tree for AHSP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AHSP: view image

Paralogs for AHSP Gene

(1) SIMAP similar genes for AHSP Gene using alignment to 2 proteins:

  • AHSP_HUMAN
  • H3BSK6_HUMAN
genes like me logo Genes that share paralogs with AHSP: view

No data available for Paralogs for AHSP Gene

Variants for AHSP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHSP Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
789834 Benign: not provided 31,528,680(+) C/A MISSENSE_VARIANT
rs36018996 - p.Pro100Thr

Additional dbSNP identifiers (rs#s) for AHSP Gene

Structural Variations from Database of Genomic Variants (DGV) for AHSP Gene

Variant ID Type Subtype PubMed ID
esv2658959 CNV deletion 23128226
esv2714195 CNV deletion 23290073
esv3570465 CNV gain 25503493
nsv1060240 CNV gain 25217958

Variation tolerance for AHSP Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AHSP Gene

Human Gene Mutation Database (HGMD)
AHSP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHSP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHSP Gene

Disorders for AHSP Gene

MalaCards: The human disease database

(9) MalaCards diseases for AHSP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
beta-thalassemia
  • thalassemia, beta
thalassemia
  • sickle-cell thalassemia with crisis
hemoglobin h disease
  • alpha-thalassemia
coronary artery vasospasm
  • coronary artery spasm
anal fistula
  • rectal fistula
- elite association - COSMIC cancer census association via MalaCards
Search AHSP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AHSP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AHSP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AHSP Gene

Publications for AHSP Gene

  1. Molecular mechanism of AHSP-mediated stabilization of alpha-hemoglobin. (PMID: 15550245) Feng L … Shi Y (Cell 2004) 3 4 23
  2. Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein. (PMID: 12192002) Gell D … Mackay JP (The Journal of biological chemistry 2002) 3 4 23
  3. An abundant erythroid protein that stabilizes free alpha-haemoglobin. (PMID: 12066189) Kihm AJ … Weiss MJ (Nature 2002) 2 3 4
  4. A novel erythroid-specific marker of transmissible spongiform encephalopathies. (PMID: 11231637) Miele G … Clinton M (Nature medicine 2001) 2 3 4
  5. Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G. (PMID: 20371604) Brillet T … Marden MC (The Journal of biological chemistry 2010) 3 23

Products for AHSP Gene

Sources for AHSP Gene