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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
  • 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 thalassemia and anal fistula. 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

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

Genomics for AHSP Gene

Regulatory Elements for AHSP Gene

Enhancers for AHSP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AHSP on UCSC Golden Path with GeneCards custom track

Promoters for AHSP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AHSP on UCSC Golden Path with GeneCards custom track

Genomic Location for AHSP Gene

Chromosome:
16
Start:
31,527,852 bp from pter
End:
31,528,803 bp from pter
Size:
952 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

Proteomics data for AHSP Gene at MOPED

Post-translational modifications for AHSP Gene

No Post-translational modifications

Other Protein References for AHSP Gene

Antibody Products

No data available for DME Specific Peptides for AHSP Gene

Domains & Families for AHSP Gene

Protein Domains for AHSP Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for AHSP Gene

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.

Gene Ontology (GO) - Molecular Function for AHSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030492 hemoglobin binding IEA,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

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
Jensen Localization Image for AHSP Gene COMPARTMENTS Subcellular localization image for AHSP gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for AHSP Gene

Pathways & Interactions for AHSP Gene

SuperPathways for AHSP Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030097 hemopoiesis IEA,NAS 12066189
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

(37) Drugs for AHSP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(30) 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:

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 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



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.
genes like me logo Genes that share expression patterns with AHSP: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia AHSP 35
  • 81.68 (n)
  • 70.33 (a)
AHSP 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHSP 35
  • 81.85 (n)
  • 73.33 (a)
AHSP 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AHSP 35
  • 100 (n)
  • 100 (a)
AHSP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahsp 35
  • 75.82 (n)
  • 66.67 (a)
oppossum
(Monodelphis domestica)
Mammalia AHSP 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHSP 36
  • 40 (a)
OneToOne
Species with no ortholog for AHSP:
  • 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 Sequence Context AA Info Type
rs36018996 - 31,528,680(-) GGAGG(G/T)CGGTG reference, missense
rs10843 -- 31,528,709(+) GCCCC(C/T)CCTCT utr-variant-3-prime
rs10920 -- 31,528,516(+) CTGGA(A/T)GAACT reference, missense
rs17677 -- 31,528,613(+) ACTCT(G/T)GCCAA reference, synonymous-codon
rs4296276 -- 31,528,109(+) GATAT(A/G)TAAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv905747 CNV Gain 21882294
dgv2673n71 CNV Loss 21882294
esv2714195 CNV Deletion 23290073
esv2658959 CNV Deletion 23128226

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)

Relevant External Links for AHSP Gene

HapMap Linkage Disequilibrium report
AHSP
Human Gene Mutation Database (HGMD)
AHSP

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
thalassemia
  • sickle-cell thalassemia with crisis
anal fistula
  • anorectal fistula
rectal disease
  • rectal diseases
coronary artery vasospasm
  • coronary artery spasm
thalassemia, hispanic gamma-delta-beta
  • thalassemias, beta-
- elite association - COSMIC cancer census association via MalaCards
Search AHSP in MalaCards View complete list of genes associated with diseases

Relevant External Links for AHSP

Genetic Association Database (GAD)
AHSP
Human Genome Epidemiology (HuGE) Navigator
AHSP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHSP
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. An abundant erythroid protein that stabilizes free alpha- haemoglobin. (PMID: 12066189) Kihm A.J. … Weiss M.J. (Nature 2002) 2 3 4 67
  2. Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G. (PMID: 20371604) Brillet T. … Marden M.C. (J. Biol. Chem. 2010) 3 23
  3. The alpha-hemoglobin stabilizing protein and expression of unstable alpha-Hb variants. (PMID: 19482015) Vasseur C. … Baudin-Creuza V. (Clin. Biochem. 2009) 3 23
  4. A cis-proline in alpha-hemoglobin stabilizing protein directs the structural reorganization of alpha-hemoglobin. (PMID: 19706593) Gell D.A. … Mackay J.P. (J. Biol. Chem. 2009) 3 23
  5. Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function. (PMID: 17874450) dos Santos C.O. … Weiss M.J. (Am. J. Hematol. 2008) 3 23

Products for AHSP Gene

Sources for AHSP Gene

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