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Aliases & Descriptions for HAX1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases FLJ17042 2 FLJ18492 2 FLJ93803 2 HAX-1 3 HCLSBP1 1 , 2 HS1BP1 1 , 2 , 3 OTTHUMP00000034190 2 SCN3 2 , 5
Descriptions HCLS1 (and PKD2) associated protein 2 HCLS1 associated protein X-1 2 HS1 binding protein 2 HS1-associating protein X-1 3 HS1-binding protein 1 3
Search outside databases for aliases for HAX1 genePrevious GC identifers: GC01P152062 GC01P149976 GC01P151020 GC01P151461 GC01P151058
Summaries for HAX1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for HAX1 : The protein encoded by this gene is known to associate with hematopoietic cell-specific Lynsubstrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of thepolycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominantpolycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thoughtthat this gene product is mainly localized in the mitochondria, however, recent studies indicateit to be localized in the cell body. Mutations in this gene result in autosomal recessive severecongenital neutropenia, also known as Kostmann disease. Two transcript variants encoding differentisoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165 Function : May function in promoting cell survival
Gene Wiki entry for HAX1
Genomic Location for HAX1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the HAX1 gene Entrez Gene cytogenetic band: 1q21.3 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21.3 HAX1 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 1 GeneLoc Exon Structure
GeneLoc location for GC01P152512:
(about GC identifiers )
Start:
152,511,663 bp from pter
End:
152,514,975 bp from pter
Size:
3,313 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000001.9 NT_004487.18 Proteins for HAX1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
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R&D Systems ,
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Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
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Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
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Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165 (See
protein sequence )Recommended Name: HCLS1-associated protein X-1 Size : 279 amino acids; 31621 Da
Subunit : Directly associates with HCLS1/HS1, through binding to its N-terminal region. May alsoassociate with cortactin/EMS1 in non-lymphoid cells
Subcellular location : Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Note=Predominantlymitochondrial, but also to a lesser extent in endoplasmic reticulum and nuclear envelope
Secondary accessions : Q5VYD5 Q96AU4 Q9BS80
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001018238.1 NP_006109.2 ENSEMBL proteins: ENSP00000329002 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): HAX1 5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
):
About this table Antibodies for HAX1: Assays for HAX1:
Protein
Domains/ Families for HAX1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O00165 ProtoNet protein and cluster: O00165
Gene Function for HAX1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
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Clones , and
Q-PCR Products
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_006118 Applied Biosystems Silencer ® siRNAs for HAX1 Sigma-Aldrich siRNA for HAX1 Sigma-Aldrich shRNA for HAX1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001018837                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001018837                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001018837  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006118 UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165 Function : May function in promoting cell survival
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hax1) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for HAX1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for HAX1 5/29 Interacting proteins for HAX1 (ENSP00000329002 3 O00165 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 29
)About this table
Drugs & Compounds for HAX1 (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 )
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Browse Tocris compounds for HAX1
Transcripts for HAX1(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_006118 Sigma-Aldrich siRNA for HAX1 Sigma-Aldrich shRNA for HAX1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001018837 NM_006118
REFSEQ mRNAs for HAX1 gene (2 alternative transcripts): NM_001018837.1 NM_006118.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001018837 NM_006118
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001018837                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001018837                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001018837  
Additional cDNA sequence: AK290626.1 AK294298.1 AK300676.1 AK310000.1 AK311450.1 AK313291.1 BC005240.1 BC014314.1 BC015209.1 BC016730.1 CR593289.1 CR602994.1 CR603784.1 CR609915.1 CR611031.1 CR618741.1 EU190983.1 U68566.1
24/26 DOTS entries (see all 26
): DT.447070 DT.91767916 DT.100884040 DT.100884039 DT.91767905 DT.92326930 DT.100884049 DT.100884038 DT.40132453 DT.75155390 DT.121340348 DT.121340416 DT.100884041 DT.100884043 DT.121340439 DT.91767903 DT.91918817 DT.95265201 DT.100038572 DT.100038575 DT.121290981 DT.121340429 DT.121340436 DT.91767902
24/635 AceView cDNA sequences (see all 635
):AA324379 H04282 CA411881 BM503235 BG773966 CR611031 BM464270 BM479677 BQ956280 AA713845 AA311082 BU157155 BQ649819 BQ653384 BC014314 BE259993 AA806492 BQ064645 H02987 CA445218 BG113606 CR602994 CA843162 CD365690
highest scoring ESTs for HAX1 :AI970711 U68566 AA055812 AA057477 AA079484 AA079584 AA081634 AA081757 AA100469 AA101498
Unigene Cluster for HAX1: HCLS1 associated protein X-1 Hs.199625 [show with all ESTs ] Unigene Representative Sequence: BQ277134 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for HAX1 ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b SP1 :                       SP2 :       -                 SP3 :                      
About this scheme ECgene alternative splicing isoforms for HAX1 1 Ensembl transcript including schematic representation : ENST00000328703
Expression for HAX1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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HAX1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for HAX1 1 / 2 / 3
4 probe-sets matching HAX1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCAGTTTGTCSOURCE GeneReport for Unigene cluster: Hs.199625 Expression variation in blood from EXPOLDB for HAX1
UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165 Tissue specificity : Ubiquitous
Orthologs for HAX1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for HAX1 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for HAX1 ENSEMBL Gene Tree for HAX1 Paralogs for HAX1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Pseudogenes 1 related pseudogene
SNPs/Variants for HAX1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for HAX1 (up to first 250kb)
Disorders & Mutations for HAX1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
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and/or TGDB .)
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OMIM: 605998 disorders : 610738 UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3(SCN3) [MIM:610738]; also called Kostmann disease. Autosomal recessive SCN constitutes a primaryimmunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show apaucity of mature neutrophils in peripheral blood and bone marrow and develop life-threateningbacterial infections
Human Gene Mutation Database : HAX1 Human Genome Epidemiology Navigator: HAX1 (1 document)
Medical News for HAX1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for HAX1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/37 PubMed articles for HAX1 gene (see all 37
): HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. (PubMed id 9058808) 2, 3, 4 Suzuki Y....Watanabe T. (1997) The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. (PubMed id 10760273) 1, 2, 3 Gallagher A.R....Witzgall R. (2000) HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). (PubMed id 17187068) 3, 4 Klein C.... Welte K. (2007) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. (PubMed id 18971376) 1, 3 Vafiadaki E....Kranias E.G. (2009) An anti-apoptotic protein, Hax-1, inhibits the HIV-1 rev function by altering its sub-cellular localization. (PubMed id 17929250) 1, 3 Modem S. and Reddy T.R. (2008) Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues. (PubMed id 18472110) 1, 3 Lees D.M....Marshall J.F. (2008) Intracellular IL-1alpha-binding proteins contribute to biological functions of endogenous IL-1alpha in systemic sclerosis fibroblasts. (PubMed id 16971486) 1, 3 Kawaguchi Y....Hara M. (2006) Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome. (PubMed id 19298594) 3 Steinemann D....Schlegelberger B. (2009) Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. (PubMed id 18337561) 3 Germeshausen M....Klein C. (2008)
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Genome Databases showing HAX1
(According to
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euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing HAX1
(According to HUGE )
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Specialized Databases showing HAX1 (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
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Name Description
HAX1base http://bioinf.uta.fi/HAX1base/
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-- Services for HAX1 (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
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