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Aliases for AHSP Gene

Aliases for AHSP Gene

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

External Ids for AHSP Gene

Previous HGNC Symbols for AHSP Gene

  • ERAF

Previous GeneCards Identifiers for AHSP Gene

  • GC16P031447
  • 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 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

Additional gene information for AHSP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHSP Gene

Genomics for AHSP Gene

GeneHancer (GH) Regulatory Elements for AHSP Gene

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
GH16I031527 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +1.0 953 2.6 SUZ12 TEAD4 TAL1 ZBTB40 TCF12 ZNF316 GATA2 NCOR1 VEZF1 CBFA2T2 AHSP ENSG00000260740 LINC02190 GC16P031521 GC16P031542
GH16I031535 Enhancer 0.8 ENCODE 0.4 +8.1 8067 0.6 HDAC1 MEIS2 LEF1 PKNOX1 TEAD4 TAL1 E4F1 TCF12 GATA3 CTBP1 C16orf58 ENSG00000260740 PRR14 AHSP GC16P031542 GC16P031521
GH16I031537 Enhancer 0.4 Ensembl 0.4 +9.7 9722 0.9 RNF2 EZH2 C16orf58 LINC02190 ENSG00000260740 ENSG00000260304 AHSP GC16P031542
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AHSP on UCSC Golden Path with GeneCards custom track

Genomic Locations for AHSP Gene

Genomic Locations for AHSP Gene
chr16:31,527,852-31,528,803
(GRCh38/hg38)
Size:
952 bases
Orientation:
Plus strand
chr16:31,539,185-31,540,124
(GRCh37/hg19)

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

Suggested Antigen Peptide Sequences for AHSP Gene

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 NAS,IEA 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

Clone Products

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
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AHSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

No Data Available

Gene Ontology (GO) - Biological Process for AHSP Gene

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

No data available for Pathways by source and SIGNOR curated interactions for AHSP Gene

Drugs & Compounds for AHSP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma Target 1259

(28) 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

Unigene Clusters for AHSP Gene

Alpha hemoglobin stabilizing protein:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
AHSP

Expression for AHSP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of AHSP Gene:

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)
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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia AHSP 33 34
  • 81.85 (n)
cow
(Bos Taurus)
Mammalia AHSP 33 34
  • 81.68 (n)
rat
(Rattus norvegicus)
Mammalia Ahsp 33
  • 75.82 (n)
oppossum
(Monodelphis domestica)
Mammalia AHSP 34
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHSP 34
  • 40 (a)
OneToOne
Species where no ortholog for AHSP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for AHSP Gene

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

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 from dbSNP and Humsavar for AHSP Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000930968 -- 31,526,859(+) T/G upstream_transcript_variant
rs1001004192 -- 31,526,181(+) A/G upstream_transcript_variant
rs1001559594 -- 31,526,553(+) C/T upstream_transcript_variant
rs1003586008 -- 31,529,125(+) C/A/T downstream_transcript_variant
rs1003923928 -- 31,526,419(+) G/T upstream_transcript_variant

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

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

Disorder Aliases PubMed IDs
beta-thalassemia
  • thalassemias, beta-
thalassemia
  • sickle-cell thalassemia with crisis
hemoglobin h disease
  • alpha-thalassemia
coronary artery vasospasm
  • coronary artery spasm
rectal disease
  • rectal disorders
- 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
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 22 58
  2. An abundant erythroid protein that stabilizes free alpha-haemoglobin. (PMID: 12066189) Kihm AJ … Weiss MJ (Nature 2002) 2 3 4 58
  3. 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 22 58
  4. A novel erythroid-specific marker of transmissible spongiform encephalopathies. (PMID: 11231637) Miele G … Clinton M (Nature medicine 2001) 2 3 4 58
  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 22 58

Products for AHSP Gene

Sources for AHSP Gene

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