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{{Infobox_gene}}
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'''HCLS1-associated protein X-1''' is a [[protein]] that in humans is encoded by the ''HAX1'' [[gene]].<ref name="pmid9058808">{{cite journal |vauthors=Suzuki Y, Demoliere C, Kitamura D, Takeshita H, Deuschle U, Watanabe T | title = HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases | journal = J Immunol | volume = 158 | issue = 6 | pages = 2736–44 |date=Apr 1997 | pmid = 9058808 | pmc = | doi = }}</ref><ref name="pmid10760273">{{cite journal |vauthors=Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R | title = The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton | journal = Proc Natl Acad Sci U S A | volume = 97 | issue = 8 | pages = 4017–22 |date=May 2000 | pmid = 10760273 | pmc = 18134 | doi =10.1073/pnas.97.8.4017 | bibcode =2000PNAS...97.4017G }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HAX1 HCLS1 associated protein X-1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10456| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = HCLS1 associated protein X-1
| HGNCid = 16915
| Symbol = HAX1
| AltSymbols =; HCLSBP1; HS1BP1
| OMIM = 605998
| ECnumber = 
| Homologene = 4463
| MGIid = 1346319
| GeneAtlas_image1 = PBB_GE_HAX1_201145_at_tn.png
| Function = {{GNF_GO|id=GO:0019966 |text = interleukin-1 binding}} {{GNF_GO|id=GO:0047485 |text = protein N-terminus binding}}
| Component = {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005635 |text = nuclear envelope}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0015629 |text = actin cytoskeleton}}
| Process =  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10456
    | Hs_Ensembl = ENSG00000143575
    | Hs_RefseqProtein = NP_001018238
    | Hs_RefseqmRNA = NM_001018837
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 152511611
    | Hs_GenLoc_end = 152514975
    | Hs_Uniprot = O00165
    | Mm_EntrezGene = 23897
    | Mm_Ensembl =   
    | Mm_RefseqmRNA = NM_011826
    | Mm_RefseqProtein = NP_035956
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''HCLS1 associated protein X-1''', also known as '''HAX1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HAX1 HCLS1 associated protein X-1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10456| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = The protein encoded by this gene is known to associate with HS1, a substrate of Src family tyrosine kinases. It also interacts with the product of PKD2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Two transcript variants encoding different isoforms have been found for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: HAX1 HCLS1 associated protein X-1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10456| accessdate = }}</ref>
| summary_text = The protein encoded by this gene is known to associate with HS1, a substrate of Src family tyrosine kinases. It also interacts with the product of ''PKD2'' gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Two transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
}}
}}
In 2015, localization of the protein to P-bodies was demonstrated.<ref name=":0">{{Cite journal|date=1 January 2015|title=HAX-1: A Novel P-Body Protein|journal=[[DNA Cell Biol.|DNA and Cell Biology]]|doi=10.1089/dna.2014.2657|pmid=25289648|access-date=|vauthors=Zayat V, Balcerak A, Korczynski J, Trebinska A, Wysocki J, Sarnowska E, Chmielarczyk M, Macech E, Konopiński R, Dziembowska M, Grzybowska EA|volume=34|pmc=4281894|pages=43–54}}</ref>
==Severe congenital neutropenia==
Homozygous mutations in ''HAX1'' are associated with autosomal recessive severe congenital neutropenia,<ref>{{cite journal |author=Klein C |title=HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) |journal=Nat. Genet. |volume=39 |issue=1 |pages=86–92 |date=January 2007 |pmid=17187068 |doi=10.1038/ng1940 |url= |name-list-format=vanc|author2=Grudzien M |author3=Appaswamy G |display-authors=3 |last4=Germeshausen |first4=Manuela |last5=Sandrock |first5=Inga |last6=Schäffer |first6=Alejandro A |last7=Rathinam |first7=Chozhavendan |last8=Boztug |first8=Kaan |last9=Schwinzer |first9=Beate}}</ref> also known as [[Kostmann disease|Kostmann syndrome]].
==Interactions==
HAX1 has been shown to [[Protein-protein interaction|interact]] with [[IL1A]].<ref name=pmid11554782>{{cite journal |last=Yin |first=H |authorlink= |author2=Morioka H |author3=Towle C A |author4=Vidal M |author5=Watanabe T |author6=Weissbach L  |date=Aug 2001 |title=Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding protein |journal=Cytokine |volume=15 |issue=3 |pages=122–37 |publisher= |location = United States| issn = 1043-4666| pmid = 11554782 |doi = 10.1006/cyto.2001.0891 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>  The protein has also been shown to interact with the [[3' untranslated regions]] of [[vimentin]] and [[DNA polymerase beta|DNA polymerase B]] transcripts.<ref name=":0" />


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Modem S, Reddy TR |title=An anti-apoptotic protein, Hax-1, inhibits the HIV-1 rev function by altering its sub-cellular localization. |journal=J. Cell. Physiol. |volume=214 |issue= 1 |pages= 14-9 |year= 2007 |pmid= 17929250 |doi= 10.1002/jcp.21305 }}
*{{cite journal  |vauthors=Modem S, Reddy TR |title=An anti-apoptotic protein, Hax-1, inhibits the HIV-1 rev function by altering its sub-cellular localization |journal=J. Cell. Physiol. |volume=214 |issue= 1 |pages= 14–9 |year= 2007 |pmid= 17929250 |doi= 10.1002/jcp.21305 }}
*{{cite journal  | author=Klein C, Grudzien M, Appaswamy G, ''et al.'' |title=HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). |journal=Nat. Genet. |volume=39 |issue= 1 |pages= 86-92 |year= 2007 |pmid= 17187068 |doi= 10.1038/ng1940 }}
*{{cite journal  | author=Klein C |title=HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) |journal=Nat. Genet. |volume=39 |issue= 1 |pages= 86–92 |year= 2007 |pmid= 17187068 |doi= 10.1038/ng1940 |name-list-format=vanc| author2=Grudzien M  | author3=Appaswamy G  | display-authors=3  | last4=Germeshausen  | first4=Manuela  | last5=Sandrock  | first5=Inga  | last6=Schäffer  | first6=Alejandro A  | last7=Rathinam  | first7=Chozhavendan  | last8=Boztug  | first8=Kaan  | last9=Schwinzer  | first9=Beate }}
*{{cite journal  | author=Kawaguchi Y, Nishimagi E, Tochimoto A, ''et al.'' |title=Intracellular IL-1alpha-binding proteins contribute to biological functions of endogenous IL-1alpha in systemic sclerosis fibroblasts. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 39 |pages= 14501-6 |year= 2006 |pmid= 16971486 |doi= 10.1073/pnas.0603545103 }}
*{{cite journal  | author=Kawaguchi Y |title=Intracellular IL--binding proteins contribute to biological functions of endogenous IL-in systemic sclerosis fibroblasts |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 39 |pages= 14501–6 |year= 2006 |pmid= 16971486 |doi= 10.1073/pnas.0603545103 | pmc=1599989  |name-list-format=vanc| author2=Nishimagi E  | author3=Tochimoto A  | display-authors=3  | last4=Kawamoto  | first4=M  | last5=Katsumata  | first5=Y  | last6=Soejima  | first6=M  | last7=Kanno  | first7=T  | last8=Kamatani  | first8=N  | last9=Hara  | first9=M |bibcode=2006PNAS..10314501K}}
*{{cite journal  | author=Han Y, Chen YS, Liu Z, ''et al.'' |title=Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition. |journal=Circ. Res. |volume=99 |issue= 4 |pages= 415-23 |year= 2006 |pmid= 16857965 |doi= 10.1161/01.RES.0000237387.05259.a5 }}
*{{cite journal  | author=Han Y |title=Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition |journal=Circ. Res. |volume=99 |issue= 4 |pages= 415–23 |year= 2006 |pmid= 16857965 |doi= 10.1161/01.RES.0000237387.05259.a5 |name-list-format=vanc| author2=Chen YS  | author3=Liu Z  | display-authors=3  | last4=Bodyak  | first4=N  | last5=Rigor  | first5=D  | last6=Bisping  | first6=E  | last7=Pu  | first7=WT  | last8=Kang  | first8=PM }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal  | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |name-list-format=vanc| author2=Venkatesan K  | author3=Hao T  | display-authors=3  | last4=Hirozane-Kishikawa  | first4=Tomoko  | last5=Dricot  | first5=Amélie  | last6=Li  | first6=Ning  | last7=Berriz  | first7=Gabriel F.  | last8=Gibbons  | first8=Francis D.  | last9=Dreze  | first9=Matija |bibcode=2005Natur.437.1173R}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Ortiz DF, Moseley J, Calderon G, ''et al.'' |title=Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cells. |journal=J. Biol. Chem. |volume=279 |issue= 31 |pages= 32761-70 |year= 2004 |pmid= 15159385 |doi= 10.1074/jbc.M404337200 }}
*{{cite journal  | author=Ortiz DF |title=Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cells |journal=J. Biol. Chem. |volume=279 |issue= 31 |pages= 32761–70 |year= 2004 |pmid= 15159385 |doi= 10.1074/jbc.M404337200 |name-list-format=vanc| author2=Moseley J  | author3=Calderon G  | display-authors=3  | last4=Swift  | first4=AL  | last5=Li  | first5=S  | last6=Arias  | first6=IM }}
*{{cite journal  | author=Bouwmeester T, Bauch A, Ruffner H, ''et al.'' |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97-105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 }}
*{{cite journal  | author=Bouwmeester T |title=A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway |journal=Nat. Cell Biol. |volume=6 |issue= 2 |pages= 97–105 |year= 2004 |pmid= 14743216 |doi= 10.1038/ncb1086 |name-list-format=vanc| author2=Bauch A  | author3=Ruffner H  | display-authors=3  | last4=Angrand  | first4=Pierre-Olivier  | last5=Bergamini  | first5=Giovanna  | last6=Croughton  | first6=Karen  | last7=Cruciat  | first7=Cristina  | last8=Eberhard  | first8=Dirk  | last9=Gagneur  | first9=Julien }}
*{{cite journal  | author=Mirmohammadsadegh A, Tartler U, Michel G, ''et al.'' |title=HAX-1, identified by differential display reverse transcription polymerase chain reaction, is overexpressed in lesional psoriasis. |journal=J. Invest. Dermatol. |volume=120 |issue= 6 |pages= 1045-51 |year= 2003 |pmid= 12787133 |doi= 10.1046/j.1523-1747.2003.12247.x }}
*{{cite journal  | author=Mirmohammadsadegh A |title=HAX-1, identified by differential display reverse transcription polymerase chain reaction, is overexpressed in lesional psoriasis |journal=J. Invest. Dermatol. |volume=120 |issue= 6 |pages= 1045–51 |year= 2003 |pmid= 12787133 |doi= 10.1046/j.1523-1747.2003.12247.x |name-list-format=vanc| author2=Tartler U  | author3=Michel G  | display-authors=3  | last4=Baer  | first4=Annett  | last5=Walz  | first5=Markus  | last6=Wolf  | first6=Ronald  | last7=Ruzicka  | first7=Thomas  | last8=Hengge  | first8=Ulrich R }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD |bibcode=2002PNAS...9916899M}}
*{{cite journal  | author=Yin H, Morioka H, Towle CA, ''et al.'' |title=Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding protein. |journal=Cytokine |volume=15 |issue= 3 |pages= 122-37 |year= 2001 |pmid= 11554782 |doi= 10.1006/cyto.2001.0891 }}
*{{cite journal  | author=Yin H |title=Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding protein |journal=Cytokine |volume=15 |issue= 3 |pages= 122–37 |year= 2001 |pmid= 11554782 |doi= 10.1006/cyto.2001.0891  |name-list-format=vanc| author2=Morioka H  | author3=Towle CA | display-authors=| last4=Vidal  | first4=| last5=Watanabe  | first5=| last6=Weissbach  | first6=L }}
*{{cite journal | author=Gallagher AR, Cedzich A, Gretz N, ''et al.'' |title=The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 8 |pages= 4017-22 |year= 2000 |pmid= 10760273 |doi= }}
*{{cite journal | author=Suzuki Y, Demoliere C, Kitamura D, ''et al.'' |title=HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. |journal=J. Immunol. |volume=158 |issue= 6 |pages= 2736-44 |year= 1997 |pmid= 9058808 |doi= }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 19:40, 23 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.[1][2][3]

The protein encoded by this gene is known to associate with HS1, a substrate of Src family tyrosine kinases. It also interacts with the product of PKD2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Two transcript variants encoding different isoforms have been found for this gene.[3]

In 2015, localization of the protein to P-bodies was demonstrated.[4]

Severe congenital neutropenia

Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia,[5] also known as Kostmann syndrome.

Interactions

HAX1 has been shown to interact with IL1A.[6] The protein has also been shown to interact with the 3' untranslated regions of vimentin and DNA polymerase B transcripts.[4]

References

  1. Suzuki Y, Demoliere C, Kitamura D, Takeshita H, Deuschle U, Watanabe T (Apr 1997). "HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases". J Immunol. 158 (6): 2736–44. PMID 9058808.
  2. Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R (May 2000). "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton". Proc Natl Acad Sci U S A. 97 (8): 4017–22. Bibcode:2000PNAS...97.4017G. doi:10.1073/pnas.97.8.4017. PMC 18134. PMID 10760273.
  3. 3.0 3.1 "Entrez Gene: HAX1 HCLS1 associated protein X-1".
  4. 4.0 4.1 Zayat V, Balcerak A, Korczynski J, Trebinska A, Wysocki J, Sarnowska E, Chmielarczyk M, Macech E, Konopiński R, Dziembowska M, Grzybowska EA (1 January 2015). "HAX-1: A Novel P-Body Protein". DNA and Cell Biology. 34: 43–54. doi:10.1089/dna.2014.2657. PMC 4281894. PMID 25289648.
  5. Klein C, Grudzien M, Appaswamy G, et al. (January 2007). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nat. Genet. 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068.
  6. Yin, H; Morioka H; Towle C A; Vidal M; Watanabe T; Weissbach L (Aug 2001). "Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding protein". Cytokine. United States. 15 (3): 122–37. doi:10.1006/cyto.2001.0891. ISSN 1043-4666. PMID 11554782.

Further reading