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ERAF Gene

protein-coding   GIFtS: 53

GC16P031446
erythroid associated factor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
AHSP 1, 2, 5
EDRF 1, 2, 3, 5
Descriptions
Erythroid differentiation-related factor 2, 3
Erythroid-associated factor 3
alpha hemoglobin stabilising protein 2
erythroid associated factor 2
erythroid differentiation associated factor 2
External Ids
HGNC: 180751
Entrez Gene: 513272
UniProtKB: Q9NZD43
Ensembl: ENSG000001698777
Search outside databases for aliases for ERAF gene

Previous GC identifers: GC16P030620 GC16P032035 GC16P031536 GC16P031575

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

UniProtKB/Swiss-Prot: AHSP_HUMAN, Q9NZD4
Function: Act 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 ERAF

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ERAF gene  

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

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

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P031446:     (about GC identifiers)

Start:
31,446,680 bp from pter
End:
31,447,625 bp from pter
Size:
946 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000016.8  NT_010393.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 an heterodimer with free alpha-hemoglobin. Does not bind beta-hemoglobin
nor alpha(2)beta(2) hemoglobin A
Subcellular location: Cytoplasm
PDB structures from and Proteopedia :
1W09 (3D)    1W0A (3D)    1W0B (3D)    1XZY (3D)    1Y01 (3D)    1Z8U (3D)    
Secondary accessions: Q8TD01

REFSEQ proteins: NP_057717.1  

ENSEMBL proteins: 
ENSP00000307199 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Ahsp)
Human Recombinant Proteins from Abnova (ERAF)
              OriGene Purified Recombinant Human Protein: ERAF 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
GO:0005833 hemoglobin complex NAS12066189
About this table

Antibodies for ERAF: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (Ahsp), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ERAF)
Novus Biologicals Antibodies for ERAF

Assays for ERAF: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR015317 A_Hb_stabilising_prot


   GeneDecks  ERAF for the domains selected above  
About GeneDecksing

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ERAF)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ERAF)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016633

              Applied Biosystems Silencer® siRNAs for ERAF

              Sigma-Aldrich siRNA for ERAF  
                     Sigma-Aldrich shRNA for ERAF  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ERAF
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016633
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016633
                                 untagged cDNA clone in CMV expression vector: NM_016633 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_016633

UniProtKB/Swiss-Prot: AHSP_HUMAN, Q9NZD4
Function: Act 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 GATA-1 during erythroid maturation

5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Eraf):

cellularhematopoietic systemimmune systemlethality-prenatal/perinatalskin/coat/nails

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0030492 hemoglobin binding NAS12066189
GO:0051082 unfolded protein binding NAS12066189
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  ERAF 


5/11 Interacting proteins for ERAF (ENSP000003071993 Q9NZD41, 2) via UniProtKB, MINT, and/or STRING (see all 11 )
InteractantInteraction Details
GeneCardExternal ID(s)
HBA1P699051STRING (score=.96) EBI-720250, EBI-714680
GATA1ENSP000003658583STRING (score=.996)
NGBENSP000002983523STRING (score=.948)
HBA2ENSP000002515953STRING (score=.943)
HBZENSP000002529513STRING (score=.943)
About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006457 protein folding IEA--
GO:0020027 hemoglobin metabolic process NAS12066189
GO:0030097 hemopoiesis NAS12066189
GO:0050821 protein stabilization IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ERAF
10/29 Novoseek chemical compound relationships for ERAF gene (see all 29 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
nitric oxide 77.67 306 8107883 (4), 7743332 (4), 15714750 (4), 8845443 (2) (see all 99)
cgmp 76.80 44 1311528 (4), 1868189 (2), 1794204 (2), 1318427 (2) (see all 27)
guanylate 76.07 22 1681884 (2), 1868189 (2), 8447442 (1), 8638522 (1) (see all 18)
dbnbs 61.00 2 8282215 (1)
methylene 57.95 14 1629068 (1), 8447442 (1), 2162879 (1), 1991651 (1) (see all 10)
thromboxane a2 52.75 11 1296206 (3), 1318427 (2), 8044917 (1), 10072715 (1) (see all 6)
superoxide 51.81 11 7685446 (1), 1658794 (1), 8461525 (1), 1309423 (1) (see all 6)
adp 42.82 12 8017760 (2), 1697386 (1), 9402468 (1), 9515109 (1) (see all 7)
thromboxane 40.00 5 17048133 (1), 1756024 (1), 1717768 (1), 1395116 (1)
calcium 37.97 50 1376838 (4), 2381766 (3), 7947609 (3), 1794204 (2) (see all 23)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ERAF)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ERAF)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016633

              Sigma-Aldrich siRNA for ERAF  
                     Sigma-Aldrich shRNA for ERAF  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_016633  

REFSEQ mRNAs for ERAF gene: 

NM_016633.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_016633  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016633
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016633
                                 untagged cDNA clone in CMV expression vector: NM_016633 

Additional cDNA sequence: 

AF112995.1 AF147435.1 AF208865.1 AF364517.1 BC035842.1 CR599801.1 

3 DOTS entries:

DT.100033632  DT.95130651  DT.95130637 

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

N64110 AI370497 CR599801 BU658045 BG940214 BG943419 H52289 BG944377 
AF208865 BX422380 BG940046 C21225 BG942798 BQ189659 T53200 BC035842 
BG942782 BG939943 CK300787 H52526 BG943368 H94872 BG943964 R91558 

highest scoring ESTs for ERAF:

H94872 AA033701 AA033702 AA092294 AA328577 AA338152 AA339867 AA723496 AF208865 AF364517 

Unigene Cluster for ERAF:

Erythroid associated factor
Hs.274309  [show with all ESTs]
Unigene Representative Sequence: BI834180


GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for ERAF

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

About this scheme

ECgene alternative splicing isoforms for ERAF

1 Ensembl transcript including schematic representation:
ENST00000302312  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ERAF expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ERAF

1 / 2 / 3

3 probe-sets matching ERAF gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
55072_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 H94872 1.00 1.00 1.00 1

219672_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016633 0.60 1.00 0.82 1

219672_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  ERAF for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TCCTTAGGCT

SOURCE GeneReport for Unigene cluster: Hs.274309

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for ERAF gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
ERAF1   -- erythroid associated factor 100(n)
100(a)
454073  XM_001159573.1  XP_001159573.1 
cow
(Bos taurus)
ERAF1   -- erythroid associated factor 81.68(n)
70.33(a)
338381  NM_177522.2  NP_803488.1 
rat
(Rattus norvegicus)
Eraf1   -- erythroid associated factor 75.82(n)
66.67(a)
293522  XM_215059.3  XP_215059.1 
mouse
(Mus musculus)
Eraf5 -- erythroid associated factor   -- BC110627 
About this table        Species with no ortholog for ERAF

ENSEMBL Gene Tree for ERAF
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/29 NCBI SNPs in ERAF are shown (see all 29 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 22)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 16 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs44992521,2
A,C,F,H31446483(+) ACTGAA/GATATG 1 -- ng514Minor allele frequency- G:0.32EU EA WA 416
rs108431,2
A,C,F,H31447531(+) GCCCCT/CCCTCT 1 -- ut31 ese3 trp34Minor allele frequency- C:0.12EU EA WA 412
rs80464521,2
A,C,F31446240(+) CCACAC/TGCTTA 1 -- ng514Minor allele frequency- T:0.22NA EA 362
rs43197841,2
A,C31446683(+) TCTTAA/GGCTGA 1 -- ng51 ese30--------
rs360189961,2
C,F31447502(-) GGAGGG/TCGGTG 1 P/T mis15Minor allele frequency- T:0.43NA EU EA WA 498
--
rs72020201,2
A31445156(+) ATACTA/GTATGA 1 -- ng51 tfbs30--------
rs109201,2
H31447338(+) CTGGAT/AGAACT 1 K/M mis15Minor allele frequency- A:0.00MN EU EA WA 580
--
rs72031991,2
A31445075(+) TGTGTC/GCACTG 1 -- ng510--------
--
rs99215921,2
A31445960(+) AAAGAA/GGAAAA 1 -- ng51 trp30--------
rs176771,2
A,C,F,H31447435(+) ACTCTG/TGCCAA 1 L/L syn1 ese36Minor allele frequency- T:0.24MN EU EA WA NA 672
About this table

HapMap Linkage Disequilibrium images for ERAF (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 605821

10/35 Novoseek disease relationships for ERAF gene (see all 35 )

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
vasospasm 64.15 5 9402468 (1), 9515109 (1), 1717775 (1), 7568903 (1) (see all 5)
vascular dilation 58.05 2 1928200 (1), 1343264 (1)
atherosclerosis 53.56 20 7568903 (2), 2045172 (1), 1868189 (1), 8222147 (1) (see all 15)
coronary vasospasm 49.18 1 11543600 (1)
vascular diseases 41.61 5 14650203 (2), 1868189 (1), 1921472 (1)
hypercholesterolemia 38.70 2 7568903 (1), 9340578 (1)
myocardial ischemia 36.64 5 8461525 (1), 2194809 (1), 7832112 (1), 10094179 (1)
beta-thalassemia 34.44 12 17874450 (3), 15545996 (2), 16696909 (2), 16186125 (1)
coronary spasm 30.00 1 8488083 (1)
hypertension pulmonary 28.34 4 1868189 (1), 1921472 (1), 2117136 (1), 1424046 (1)
About this table

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

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

10/254 PubMed articles for ERAF gene (see all 254 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 51327 HGNC: 18075 AceView: ERAF Ensembl:ENSG00000169877 euGenes: HUgn51327
ECgene: ERAF H-InvDB: ERAF
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for ERAF:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for ERAF-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for ERAF Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ERAF Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
 Antibodies   Primer Pairs  
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 Flow Cytometry Kits   Protease Activity Assays & Reagents  
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 Recombinant & Natural Proteins  

 Recombinant Proteins (ERAF)
 Antibodies (ERAF)
 Chimera RNAi (ERAF)
 Custom Service for Mouse Mab
 Custom Service for Rabbit Pab from Full-length Protein
  
 Search for Antibodies & Assays

 Recombinant Proteins
(Ahsp)
 Antibodies (Ahsp)
 Tagged/untagged cDNA clones
 Validated SYBR primer pairs
 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for ERAF




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for ERAF

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