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Aliases for AHSP Gene

Aliases for AHSP Gene

  • Alpha Hemoglobin Stabilizing Protein 2 3
  • ERAF 3 4 6
  • Erythroid Differentiation-Related Factor 3 4
  • Alpha Hemoglobin Stabilising Protein 2 3
  • Erythroid Associated Factor 2 3
  • Erythroid-Associated Factor 3 4
  • EDRF 3 4
  • Erythroid Differentiation Associated Factor 3
  • Alpha-Hemoglobin-Stabilizing Protein 3
  • EDRF, 6

External Ids for AHSP Gene

Previous HGNC Symbols for AHSP Gene

  • ERAF

Previous GeneCards Identifiers for AHSP Gene

  • GC16P031447
  • GC16P029099

Summaries for AHSP Gene

GeneCards Summary for AHSP Gene

AHSP (Alpha Hemoglobin Stabilizing Protein) is a Protein Coding gene. Diseases associated with AHSP include obstructive lung disease and myocardial stunning. 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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHSP Gene

Genomics for AHSP Gene

Genomic Location for AHSP Gene

Start:
31,527,864 bp from pter
End:
31,528,804 bp from pter
Size:
941 bases
Orientation:
Plus strand

Genomic View for AHSP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AHSP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHSP Gene

No data available for Regulatory Elements 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AHSP Gene

Domains for AHSP Gene

Protein Domains for AHSP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHSP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZD4

UniProtKB/Swiss-Prot:

AHSP_HUMAN :
  • Q9NZD4
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:0005515 protein binding IPI 16189514
GO:0030492 hemoglobin binding 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 Models for AHSP Gene

MGI Knock Outs for AHSP:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AHSP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
cytoskeleton 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AHSP Gene

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

Pathways 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:0006457 protein folding IEA --
GO:0020027 hemoglobin metabolic process NAS 12066189
GO:0030097 hemopoiesis NAS 12066189
GO:0050821 protein stabilization IEA --
genes like me logo Genes that share ontologies with AHSP: view

No data available for Pathways by source for AHSP Gene

Compounds for AHSP Gene

(67) Novoseek inferred chemical compound relationships for AHSP Gene

Compound -log(P) Hits PubMed IDs
nitric oxide 77.5 125
prostacyclin 77.4 70
cgmp 76.8 34
guanylate 75.5 20
l-nmma 69.8 9
genes like me logo Genes that share compounds with AHSP: view

Transcripts for AHSP Gene

mRNA/cDNA for AHSP Gene

Unigene Clusters for AHSP Gene

Alpha hemoglobin stabilizing protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AHSP

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 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 (48.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with AHSP: view

In Situ Assay Products

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 35
  • 100 (n)
  • 100 (a)
AHSP 36
  • 100 (a)
OneToOne
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
mouse
(Mus musculus)
Mammalia Ahsp 16
oppossum
(Monodelphis domestica)
Mammalia AHSP 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHSP 36
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahsp 35
  • 75.82 (n)
  • 66.67 (a)
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)
  • 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

Selected 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 MAF
rs10843 -- 31,528,709(+) GCCCC(C/T)CCTCT utr-variant-3-prime
rs10920 -- 31,528,516(+) CTGGA(A/T)GAACT missense, reference
rs17677 -- 31,528,613(+) ACTCT(G/T)GCCAA reference, synonymous-codon
rs4296276 -- 31,528,109(+) GATAT(A/G)TAAAT intron-variant
rs4319784 -- 31,527,861(+) TCTTA(A/G)GCTGA upstream-variant-2KB

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

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

(1) University of Copenhagen DISEASES for AHSP Gene

(35) Novoseek inferred disease relationships for AHSP Gene

Disease -log(P) Hits PubMed IDs
vasospasm 64.3 5
vascular dilation 56.9 2
atherosclerosis 53.9 16
coronary vasospasm 47.8 1
vascular diseases 42 4

Relevant External Links for AHSP

Genetic Association Database (GAD)
AHSP
Human Genome Epidemiology (HuGE) Navigator
AHSP
genes like me logo Genes that share disorders with AHSP: view

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

Publications for AHSP Gene

  1. Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein. (PMID: 12192002) Gell D. … Mackay J.P. (J. Biol. Chem. 2002) 3 4 23
  2. Molecular mechanism of AHSP-mediated stabilization of alpha- hemoglobin. (PMID: 15550245) Feng L. … Shi Y. (Cell 2004) 3 4 23
  3. A novel erythroid-specific marker of transmissible spongiform encephalopathies. (PMID: 11231637) Miele G. … Clinton M. (Nat. Med. 2001) 2 3 4
  4. An abundant erythroid protein that stabilizes free alpha- haemoglobin. (PMID: 12066189) Kihm A.J. … Weiss M.J. (Nature 2002) 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 M.C. (J. Biol. Chem. 2010) 3 23

Products for AHSP Gene

Sources for AHSP Gene

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