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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AHSP Gene

protein-coding   GIFtS: 54
GCID: GC16P031540

Alpha Hemoglobin Stabilizing Protein

(Previous name: erythroid associated factor)
(Previous symbol: ERAF)
Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alpha Hemoglobin Stabilizing Protein1 2     Erythroid Differentiation-Related Factor2 3
ERAF1 2 3 5     Erythroid-Associated Factor2 3
EDRF2 3 5     Alpha-Hemoglobin-Stabilizing Protein2
Erythroid Associated Factor1 2     Erythroid Differentiation Associated Factor2
Alpha Hemoglobin Stabilising Protein1 2     

External Ids:    HGNC: 180751   Entrez Gene: 513272   Ensembl: ENSG000001698777   OMIM: 6058215   UniProtKB: Q9NZD43   

Export aliases for AHSP gene to outside databases

Previous GC identifers: GC16P031447 GC16P029099


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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: AHSP_HUMAN, Q9NZD4
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

Gene Wiki entry for AHSP (ERAF) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AHSP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAHSP promoter sequence
   Search SABiosciences Chromatin IP Primers for AHSP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHSP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.1

AHSP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHSP gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P031540:  view genomic region     (about GC identifiers)

Start:
31,539,185 bp from pter      End:
31,540,124 bp from pter
Size:
940 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AHSP_HUMAN, Q9NZD4 (See protein sequence)
Recommended Name: Alpha-hemoglobin-stabilizing protein  
Size: 102 amino acids; 11840 Da
Subunit: Monomer. Forms a heterodimer with free alpha-hemoglobin. Does not bind beta-hemoglobin nor
alpha(2)beta(2) hemoglobin A
Subcellular location: Cytoplasm
6/8 PDB 3D structures from and Proteopedia for AHSP (see all 8):
1W09 (3D)        1W0A (3D)        1W0B (3D)        1XZY (3D)        1Y01 (3D)        1Z8U (3D)    
Secondary accessions: Q8TD01

Explore the universe of human proteins at neXtProt for AHSP: NX_Q9NZD4

Explore proteomics data for AHSP at MOPED 

AHSP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

AHSP Protein Expression

REFSEQ proteins: NP_057717.1  
ENSEMBL proteins: 
 ENSP00000307199   ENSP00000456748  

Human Recombinant Protein Products for AHSP: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for AHSP
OriGene Protein Over-expression Lysate for AHSP
OriGene MassSpec for AHSP 
OriGene Custom Protein Services for AHSP
GenScript Custom Purified and Recombinant Proteins Services for AHSP
Novus Biologicals AHSP Proteins
Novus Biologicals AHSP Lysate
Sino Biological Recombinant Protein for AHSP
Browse Sino Biological Cell Lysates 
ProSpec Recombinant Protein for AHSP
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005833hemoglobin complex NAS12066189

AHSP for ontologies           About GeneDecksing



AHSP Antibody Products: 
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Novus Biologicals AHSP Antibodies
Abcam antibodies for AHSP
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LSBio Antibodies in human, mouse, rat for AHSP 

Assay Products for AHSP: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for AHSP
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for AHSP
Browse Enzo Life Sciences for kits & assays
Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR015317 A_Hb_stabilising_prot

Graphical View of Domain Structure for InterPro Entry Q9NZD4

ProtoNet protein and cluster: Q9NZD4

UniProtKB/Swiss-Prot: AHSP_HUMAN, Q9NZD4
Similarity: Belongs to the AHSP family


AHSP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: AHSP_HUMAN, Q9NZD4
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
Induction: By GATA1 during erythroid maturation

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030492hemoglobin binding NAS12066189
GO:0051082unfolded protein binding NAS12066189
     
AHSP for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for AHSP:
 Abundance of large cells with   Increased gamma-H2AX phosphory 

     5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ahsp):
 cellular  hematopoietic system  immune system  integument  mortality/aging 

AHSP for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for AHSP: Ahsptm1.1Mjwe Ahsptm1Mjwe

   inGenious Targeting Laboratory - Custom generated mouse model solutions for AHSP 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AHSP

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AHSP 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AHSP 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AHSP
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AHSP
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for AHSP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHSP

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for AHSP
Sirion Biotech Customized adenovirus for overexpression of AHSP

Clone
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OriGene clones in human, mouse for AHSP (see all 7)
OriGene ORF clones in mouse, rat for AHSP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: AHSP (NM_016633)
Sino Biological Human cDNA Clone for AHSP
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHSP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHSP
Sirion Biotech Customized lentivirus for stable overexpression of AHSP 
                     Customized lentivirus expression plasmids for stable overexpression of AHSP 

Cell Line
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GenScript Custom overexpressing Cell Line Services for AHSP
Search LifeMap BioReagents cell lines for AHSP
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHSP


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section




Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AHSP

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/17 Interacting proteins for AHSP (Q9NZD42, 3 ENSP000003071994) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
InteractantInteraction Details
GeneCardExternal ID(s)
MYZAPP0CAP12, 3MINT-65214 I2D: score=4 
HBA1P699053, ENSP000003224214I2D: score=3 STRING: ENSP00000322421
HBA2P699053, ENSP000002515954I2D: score=3 STRING: ENSP00000251595
ZC3H12AQ5D1E83I2D: score=4 
POLR2MP0CAP23I2D: score=3 
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006457protein folding IEA--
GO:0020027hemoglobin metabolic process NAS12066189
GO:0030097hemopoiesis NAS12066189
GO:0050821protein stabilization IEA--

AHSP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AHSP for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AHSP

10/67 Novoseek inferred chemical compound relationships for AHSP gene (see all 67)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
nitric oxide 77.5 315 8107883 (4), 7743332 (4), 15714750 (4), 8845443 (2) (see all 99)
prostacyclin 77.4 80 1926869 (6), 7947609 (3), 8358552 (3), 2263533 (2) (see all 50)
cgmp 76.8 44 1311528 (4), 1868189 (2), 1794204 (2), 1318427 (2) (see all 27)
guanylate 75.5 22 1681884 (2), 1868189 (2), 8447442 (1), 8638522 (1) (see all 18)
l-nmma 69.8 17 7889260 (2), 1720843 (1), 7685446 (1), 1283343 (1) (see all 8)
arginine 69.3 54 1566916 (4), 8835314 (2), 1991651 (2), 1662618 (2) (see all 35)
nitroglycerin 66.9 23 8603131 (4), 1288910 (1), 8743501 (1), 16101430 (1) (see all 13)
acetylcholine 66.4 51 2344673 (5), 1566916 (3), 2032388 (3), 1629068 (2) (see all 29)
sodium nitroprusside 65.4 18 8603131 (2), 1311528 (2), 1288910 (1), 8767924 (1) (see all 12)
ng-nitro-l-arginine 62.7 20 1629068 (3), 8199652 (2), 1991651 (1), 7889260 (1) (see all 10)

Search CenterWatch for drugs/clinical trials and news about AHSP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AHSP gene: 
NM_016633.2  

Unigene Cluster for AHSP:

Alpha hemoglobin stabilizing protein
Hs.274309  [show with all ESTs]
Unigene Representative Sequence: BI834180
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000302312(uc002ecj.3) ENST00000569954 ENST00000564707

miRNA
Products:
     
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Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AHSP
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for AHSP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHSP
Clone
Products:
     
OriGene clones in human, mouse for AHSP (see all 7)
OriGene ORF clones in mouse, rat for AHSP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: AHSP (NM_016633)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHSP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHSP
Sirion Biotech Customized lentivirus for stable overexpression of AHSP 
                     Customized lentivirus expression plasmids for stable overexpression of AHSP 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for AHSP
OriGene qSTAR qPCR primer pairs in human, mouse for AHSP
SABiosciences RT2 qPCR Primer Assay in human, mouse / rat AHSP
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHSP
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHSP

Additional mRNA sequence: 

AF112995.1 AF147435.1 AF208865.1 AF364517.1 BC035842.1 

3 DOTS entries:

DT.100033632  DT.95130651  DT.95130637 

24/92 AceView cDNA sequences (see all 92):

AI370497 BU658045 N64110 CR599801 BG940214 BG943419 H52526 H94872 
CK300787 AA339867 T52214 AF364517 BM918897 BX118598 BQ189659 BG943964 
T53200 BG942868 NM_016633 H94866 AA338152 H94264 R91558 BG939943 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for AHSP    About this scheme

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


ECgene alternative splicing isoforms for AHSP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AHSP expression in normal human tissues (normalized intensities)      AHSP embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCCTTAGGCT
AHSP Expression
About this image


AHSP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/8 selected tissues (see all 8) fully expand
 
 Blood (Hematopoietic System)    fully expand to see all 10 entries
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
         Bone marrow-derived hematopoietic stem cells
         Cord Blood CD133- Cells   
         neutrophils   
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         Bone Marrow
         bone marrow   
 
 Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
         Cord Blood CD133- Cells   
         umbilical cord reticulocytes   
 
 Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
         small intestine ; glandular cells   
 
 Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
         stomach, upper ; glandular cells   

See AHSP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AHSP

SOURCE GeneReport for Unigene cluster: Hs.274309

UniProtKB/Swiss-Prot: AHSP_HUMAN, Q9NZD4
Tissue specificity: Expressed in blood and bone marrow

    SABiosciences Custom PCR Arrays for AHSP
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHSP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHSP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for AHSP gene from 1/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ahsp5 alpha hemoglobin stabilizing protein   --   -


ENSEMBL Gene Tree for AHSP (if available)
TreeFam Gene Tree for AHSP (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for AHSP gene
1 SIMAP similar gene for AHSP using alignment to 2 protein entries:     AHSP_HUMAN (see all proteins):
ERAF

AHSP for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/94 SNPs in AHSP are shown (see all 94)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs99296571,2
C--31537221(+) ctgccT/Acagcc 1 -- us2k12Minor allele frequency- A:0.25NA 4
rs99373671,2
C--31537222(+) tgcctC/Tagcct 1 -- us2k10--------
rs1456387131,2
--31537281(+) TTGTAG/TTTTTA 1 -- us2k10--------
rs1808400561,2
--31537325(+) GGTCTC/TGAACT 1 -- us2k10--------
rs72031991,2
C,F,A--31537574(+) TGTGTC/GCACTG 1 -- us2k19Minor allele frequency- G:0.34NA WA CSA EA 369
rs727905611,2
C,F--31537624(+) CTGACC/AAAAAA 1 -- us2k11Minor allele frequency- A:0.03NA 120
rs72020201,2
C,F,A,H--31537655(+) ATACTG/ATATGA 1 -- us2k1 tfbs321Minor allele frequency- A:0.32NS EA NA WA CSA 2311
rs133389391,2
C,F,H--31537804(+) tgtatC/Tttaac 1 -- us2k120Minor allele frequency- T:0.26NS EA NA WA CSA 2346
rs755084131,2
F--31537813(+) ACTGCG/ATTTGT 1 -- us2k11Minor allele frequency- A:0.02EA 120
rs1465601431,2
--31537927(+) GTCAGA/GAGTTC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for AHSP (31539185 - 31540124 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for AHSP:    About this table     
Variant IDTypeSubtypePubMed ID
esv2658959CNV Deletion23128226
esv2714195CNV Deletion23290073
dgv2673n71CNV Loss21882294
nsv905747CNV Gain21882294


Human Gene Mutation Database (HGMD): AHSP
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing AHSP
DNA2.0 Custom Variant and Variant Library Synthesis for AHSP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 605821    OMIM disorders: --

20/32 diseases for AHSP (see all 32):    About MalaCards
obstructive lung disease    myocardial stunning    variant creutzfeldt-jakob disease    cerebral malaria
hyperglycemia    beta thalassemia    acute myocardial infarction    arteriosclerosis
thalassemia    hellp syndrome    essential hypertension    congestive heart failure
vascular disease    myocardial infarction    hypercholesterolemia    polyneuropathy
malaria    hypertension    ischemia    atherosclerosis

1 disease from the University of Copenhagen DISEASES database for AHSP:
Thalassemia

AHSP for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

10/35 Novoseek inferred disease relationships for AHSP gene (see all 35)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
vasospasm 64.3 5 9402468 (1), 9515109 (1), 1717775 (1), 7568903 (1) (see all 5)
vascular dilation 56.9 2 1928200 (1), 1343264 (1)
atherosclerosis 53.9 20 7568903 (2), 2045172 (1), 1868189 (1), 8222147 (1) (see all 15)
coronary vasospasm 47.8 1 11543600 (1)
vascular diseases 42 5 14650203 (2), 1868189 (1), 1921472 (1)
beta-thalassemia 38.2 16 17874450 (3), 15545996 (2), 16696909 (2), 20063986 (2) (see all 5)
hypercholesterolemia 37.6 2 7568903 (1), 9340578 (1)
myocardial ischemia 37.2 5 8461525 (1), 2194809 (1), 7832112 (1), 10094179 (1)
thalassemia 34.6 8 14715623 (4), 20371604 (1), 17666592 (1)
hypertension pulmonary 30 4 1868189 (1), 1921472 (1), 2117136 (1), 1424046 (1)

Genetic Association Database (GAD): AHSP
Human Genome Epidemiology (HuGE) Navigator: AHSP (1 document)

Export disorders for AHSP gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for AHSP gene, integrated from 9 sources (see all 317):
(articles sorted by number of sources associating them with AHSP)
    Utopia: connect your pdf to the dynamic
world of online information

  1. An abundant erythroid protein that stabilizes free alpha- haemoglobin. (PubMed id 12066189)1, 2, 3 Kihm A.J.... Weiss M.J. (2002)
  2. A novel erythroid-specific marker of transmissible spongiform encephalopathies. (PubMed id 11231637)1, 2, 3 Miele G.... Clinton M. (2001)
  3. Molecular mechanism of AHSP-mediated stabilization of alpha-hemoglobin. (PubMed id 15550245)1, 2, 9 Feng L....Shi Y. (2004)
  4. Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein. (PubMed id 12192002)1, 2, 9 Gell D.... Mackay J.P. (2002)
  5. Analysis of alpha-hemoglobin-stabilizing protein (AHS P) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China. (PubMed id 20627634)1, 4 Wang Z....Xu X. (2010)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  7. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
  8. Reduction of AHSP synthesis in hemin-induced K562 cells and EPO-induced CD34(+) cells leads to alpha-globin precipitation, impairment of normal hemoglobin production, and increased cell death. (PubMed id 18179859)1, 9 Pinho F.O....Costa F.F. (2008)
  9. The alpha-hemoglobin stabilizing protein and expressi on of unstable alpha-Hb variants. (PubMed id 19482015)1, 9 Vasseur C....Baudin-Creuza V. (2009)
  10. Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function. (PubMed id 17874450)1, 9 dos Santos C.O....Weiss M.J. (2008)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51327 HGNC: 18075 AceView: ERAF Ensembl:ENSG00000169877 euGenes: HUgn51327
ECgene: AHSP H-InvDB: AHSP

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AHSP Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
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Patent Information for AHSP gene:
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