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AHSP (alpha hemoglobin stabilizing protein)

Identity

Alias_namesERAF
erythroid associated factor
Alias_symbol (synonym)EDRF
Other alias
HGNC (Hugo) AHSP
LocusID (NCBI) 51327
Atlas_Id 56599
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 31527852 and ends at 31528804 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
H1F0 (22q13.1) / AHSP (16p11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AHSP   18075
LRG (Locus Reference Genomic)LRG_1073
Cards
Entrez_Gene (NCBI)AHSP  51327  alpha hemoglobin stabilizing protein
AliasesEDRF; ERAF
GeneCards (Weizmann)AHSP
Ensembl hg19 (Hinxton)ENSG00000169877 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169877 [Gene_View]  chr16:31527852-31528804 [Contig_View]  AHSP [Vega]
ICGC DataPortalENSG00000169877
TCGA cBioPortalAHSP
AceView (NCBI)AHSP
Genatlas (Paris)AHSP
WikiGenes51327
SOURCE (Princeton)AHSP
Genetics Home Reference (NIH)AHSP
Genomic and cartography
GoldenPath hg38 (UCSC)AHSP  -     chr16:31527852-31528804 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AHSP  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblAHSP - 16p11.2 [CytoView hg19]  AHSP - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIAHSP [Mapview hg19]  AHSP [Mapview hg38]
OMIM605821   
Gene and transcription
Genbank (Entrez)AF112995 AF147435 AF208865 AF364517 BC035842
RefSeq transcript (Entrez)NM_001318221 NM_001318222 NM_016633
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AHSP
Cluster EST : UnigeneHs.274309 [ NCBI ]
CGAP (NCI)Hs.274309
Alternative Splicing GalleryENSG00000169877
Gene ExpressionAHSP [ NCBI-GEO ]   AHSP [ EBI - ARRAY_EXPRESS ]   AHSP [ SEEK ]   AHSP [ MEM ]
Gene Expression Viewer (FireBrowse)AHSP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51327
GTEX Portal (Tissue expression)AHSP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZD4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZD4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZD4
Splice isoforms : SwissVarQ9NZD4
PhosPhoSitePlusQ9NZD4
Domains : Interpro (EBI)A_Hb_stabilising_prot   
Domain families : Pfam (Sanger)AHSP (PF09236)   
Domain families : Pfam (NCBI)pfam09236   
Domain structure : Prodom (Prabi Lyon)A_Hb_stabilising_prot (PD285427)   
Conserved Domain (NCBI)AHSP
DMDM Disease mutations51327
Blocks (Seattle)AHSP
PDB (SRS)1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
PDB (PDBSum)1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
PDB (IMB)1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
PDB (RSDB)1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
Structural Biology KnowledgeBase1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
SCOP (Structural Classification of Proteins)1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
CATH (Classification of proteins structures)1W09    1W0A    1W0B    1XZY    1Y01    1Z8U    3IA3    3OVU   
SuperfamilyQ9NZD4
Human Protein AtlasENSG00000169877
Peptide AtlasQ9NZD4
HPRD12052
IPIIPI00010257   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZD4
IntAct (EBI)Q9NZD4
FunCoupENSG00000169877
BioGRIDAHSP
STRING (EMBL)AHSP
ZODIACAHSP
Ontologies - Pathways
QuickGOQ9NZD4
Ontology : AmiGOprotein binding  hemoglobin complex  protein folding  hemoglobin metabolic process  hemopoiesis  erythrocyte differentiation  hemoglobin binding  protein stabilization  unfolded protein binding  
Ontology : EGO-EBIprotein binding  hemoglobin complex  protein folding  hemoglobin metabolic process  hemopoiesis  erythrocyte differentiation  hemoglobin binding  protein stabilization  unfolded protein binding  
Pathways : BIOCARTAAcute Myocardial Infarction [Genes]    Hemoglobin's Chaperone [Genes]   
NDEx NetworkAHSP
Atlas of Cancer Signalling NetworkAHSP
Wikipedia pathwaysAHSP
Orthology - Evolution
OrthoDB51327
GeneTree (enSembl)ENSG00000169877
Phylogenetic Trees/Animal Genes : TreeFamAHSP
HOVERGENQ9NZD4
HOGENOMQ9NZD4
Homologs : HomoloGeneAHSP
Homology/Alignments : Family Browser (UCSC)AHSP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAHSP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AHSP
dbVarAHSP
ClinVarAHSP
1000_GenomesAHSP 
Exome Variant ServerAHSP
ExAC (Exome Aggregation Consortium)AHSP (select the gene name)
Genetic variants : HAPMAP51327
Genomic Variants (DGV)AHSP [DGVbeta]
DECIPHERAHSP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAHSP 
Mutations
ICGC Data PortalAHSP 
TCGA Data PortalAHSP 
Broad Tumor PortalAHSP
OASIS PortalAHSP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAHSP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAHSP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AHSP
DgiDB (Drug Gene Interaction Database)AHSP
DoCM (Curated mutations)AHSP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AHSP (select a term)
intoGenAHSP
Cancer3DAHSP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605821   
Orphanet
MedgenAHSP
Genetic Testing Registry AHSP
NextProtQ9NZD4 [Medical]
TSGene51327
GENETestsAHSP
Target ValidationAHSP
Huge Navigator AHSP [HugePedia]
snp3D : Map Gene to Disease51327
BioCentury BCIQAHSP
ClinGenAHSP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51327
Chemical/Pharm GKB GenePA27842
Clinical trialAHSP
Miscellaneous
canSAR (ICR)AHSP (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAHSP
EVEXAHSP
GoPubMedAHSP
iHOPAHSP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:39 CEST 2017

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