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O00165

- HAX1_HUMAN

UniProt

O00165 - HAX1_HUMAN

Protein

HCLS1-associated protein X-1

Gene

HAX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (23 Jan 2002)
      Previous versions | rss
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    Functioni

    Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools.6 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei127 – 1282Cleavage; by caspase-3

    GO - Molecular functioni

    1. interleukin-1 binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein N-terminus binding Source: UniProtKB

    GO - Biological processi

    1. cellular response to cytokine stimulus Source: BHF-UCL
    2. positive regulation of actin cytoskeleton reorganization Source: BHF-UCL
    3. positive regulation of granulocyte differentiation Source: BHF-UCL
    4. positive regulation of peptidyl-serine phosphorylation Source: BHF-UCL
    5. positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
    6. positive regulation of phosphatidylinositol 3-kinase signaling Source: BHF-UCL
    7. positive regulation of protein kinase B signaling Source: BHF-UCL
    8. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    9. regulation of actin filament polymerization Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HCLS1-associated protein X-1
    Alternative name(s):
    HS1-associating protein X-1
    Short name:
    HAX-1
    HS1-binding protein 1
    Short name:
    HSP1BP-1
    Gene namesi
    Name:HAX1
    Synonyms:HS1BP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:16915. HAX1.

    Subcellular locationi

    GO - Cellular componenti

    1. actin cytoskeleton Source: BHF-UCL
    2. cytoplasmic membrane-bounded vesicle Source: UniProtKB-SubCell
    3. endoplasmic reticulum Source: BHF-UCL
    4. lamellipodium Source: BHF-UCL
    5. mitochondrion Source: UniProtKB
    6. nuclear envelope Source: ProtInc
    7. nuclear membrane Source: UniProtKB-SubCell
    8. sarcoplasmic reticulum Source: UniProtKB-SubCell
    9. transcription factor complex Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Mitochondrion, Nucleus, Sarcoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms (PubMed:18337561).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti130 – 1301L → R in SCN3. 1 Publication
    Corresponds to variant rs179363871 [ dbSNP | Ensembl ].
    VAR_064514
    Natural varianti141 – 1411F → L in SCN3; mild form. 1 Publication
    Corresponds to variant rs179363870 [ dbSNP | Ensembl ].
    VAR_062259
    Natural varianti172 – 1721V → I in SCN3. 1 Publication
    Corresponds to variant rs141970914 [ dbSNP | Ensembl ].
    VAR_064515

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi610738. phenotype.
    Orphaneti99749. Kostmann syndrome.
    PharmGKBiPA142671700.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 279278HCLS1-associated protein X-1PRO_0000083906Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication

    Post-translational modificationi

    Proteolytically cleaved by caspase-3 during apoptosis.1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO00165.
    PaxDbiO00165.
    PRIDEiO00165.

    PTM databases

    PhosphoSiteiO00165.

    Miscellaneous databases

    PMAP-CutDBO00165.

    Expressioni

    Tissue specificityi

    Ubiquitous. Up-regulated in oral cancers.2 Publications

    Gene expression databases

    ArrayExpressiO00165.
    BgeeiO00165.
    CleanExiHS_HAX1.
    GenevestigatoriO00165.

    Organism-specific databases

    HPAiHPA055141.

    Interactioni

    Subunit structurei

    Interacts with ABCB1, ABCB4 and ABCB11 By similarity. Directly associates with HCLS1/HS1, through binding to its N-terminal region. Interacts with CTTN. Interacts with PKD2. Interacts with GNA13. Interacts with CASP9. Interacts with ITGB6. Interacts with PLN and ATP2A2; these interactions are inhibited by calcium. Interacts with GRB7. Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4.By similarity9 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ESR1P033722EBI-357001,EBI-78473
    GRB7Q144512EBI-357001,EBI-970191
    TPCN1Q9ULQ12EBI-357001,EBI-5239895
    TPCN2Q8NHX94EBI-357001,EBI-5239949

    Protein-protein interaction databases

    BioGridi115719. 37 interactions.
    IntActiO00165. 71 interactions.
    MINTiMINT-1137395.
    STRINGi9606.ENSP00000329002.

    Structurei

    3D structure databases

    ProteinModelPortaliO00165.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 4140Required for localization in mitochondriaBy similarityAdd
    BLAST
    Regioni114 – 279166Involved in HCLS1 bindingAdd
    BLAST
    Regioni175 – 20632Involved in CASP9 bindingAdd
    BLAST
    Regioni176 – 24772Involved in GNA13 bindingAdd
    BLAST
    Regioni183 – 27997Required for localization in sarcoplasmic reticulumBy similarityAdd
    BLAST
    Regioni184 – 27996Involved in PKD2 bindingAdd
    BLAST
    Regioni203 – 24543Involved in ATP2A2 bindingAdd
    BLAST
    Regioni203 – 22523Involved in PLN bindingAdd
    BLAST
    Regioni270 – 27910Required for ITGB6 binding

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi30 – 4011Asp/Glu-rich (highly acidic)Add
    BLAST

    Sequence similaritiesi

    Belongs to the HAX1 family.Curated

    Phylogenomic databases

    eggNOGiNOG45051.
    HOVERGENiHBG002991.
    InParanoidiO00165.
    KOiK16220.
    OMAiPKPAPDW.
    OrthoDBiEOG7HTHJ5.
    PhylomeDBiO00165.
    TreeFamiTF328619.

    Family and domain databases

    InterProiIPR017248. HS1--assoc_X-1.
    [Graphical view]
    PIRSFiPIRSF037634. HS1-associating_X-1. 1 hit.

    Sequences (6)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: O00165-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR    50
    FHSPQHPPEE FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL 100
    PSHPPELPGP ESETPGERLR EGQTLRDSML KYPDSHQPRI FGGVLESDAR 150
    SESPQPAPDW GSQRPFHRFD DVWPMDPHPR TREDNDLDSQ VSQEGLGPVL 200
    QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV TRHEADSSPR 250
    GDPESPRPPA LDDAFSILDL FLGRWFRSR 279
    Length:279
    Mass (Da):31,621
    Last modified:January 23, 2002 - v2
    Checksum:i87EEF0C46857704B
    GO
    Isoform 2 (identifier: O00165-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         105-105: P → PANTCHLSA

    Show »
    Length:287
    Mass (Da):32,418
    Checksum:i762F6F8897C11AB9
    GO
    Isoform 3 (identifier: O00165-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-26: Missing.

    Show »
    Length:253
    Mass (Da):28,646
    Checksum:iA7F85EF8A7E6E0AB
    GO
    Isoform 4 (identifier: O00165-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         106-124: ELPGPESETPGERLREGQT → GVWLSLRGNLWFLVGWWVK
         125-279: Missing.

    Show »
    Length:124
    Mass (Da):14,235
    Checksum:iB59B40DC8DF641E3
    GO
    Isoform 5 (identifier: O00165-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         18-65: Missing.

    Show »
    Length:231
    Mass (Da):26,100
    Checksum:i25EF194EC019C474
    GO
    Isoform 6 (identifier: O00165-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         85-264: VRDFNSIFSD...SPRPPALDDA → NFQVLSQRHL...SPNPISRASL
         265-279: Missing.

    Show »
    Length:191
    Mass (Da):21,801
    Checksum:iE9D736737D3F978F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti25 – 251G → V in BAG62359. 1 PublicationCurated
    Sequence conflicti45 – 451G → R in AAB51196. (PubMed:9058808)Curated
    Sequence conflicti201 – 2011Q → T in AAB51196. (PubMed:9058808)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491P → S.
    Corresponds to variant rs11556344 [ dbSNP | Ensembl ].
    VAR_062258
    Natural varianti130 – 1301L → R in SCN3. 1 Publication
    Corresponds to variant rs179363871 [ dbSNP | Ensembl ].
    VAR_064514
    Natural varianti141 – 1411F → L in SCN3; mild form. 1 Publication
    Corresponds to variant rs179363870 [ dbSNP | Ensembl ].
    VAR_062259
    Natural varianti151 – 1511S → G.1 Publication
    Corresponds to variant rs17851425 [ dbSNP | Ensembl ].
    VAR_062260
    Natural varianti172 – 1721V → I in SCN3. 1 Publication
    Corresponds to variant rs141970914 [ dbSNP | Ensembl ].
    VAR_064515
    Natural varianti278 – 2781S → P.
    Corresponds to variant rs1804715 [ dbSNP | Ensembl ].
    VAR_062261

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2626Missing in isoform 3. 2 PublicationsVSP_038536Add
    BLAST
    Alternative sequencei18 – 6548Missing in isoform 5. 1 PublicationVSP_038543Add
    BLAST
    Alternative sequencei85 – 264180VRDFN…ALDDA → NFQVLSQRHLVRDYGRDRHF GTQCLSIQIVTSPGSLGGSW RVMQEVNPPNQHQTGAPRGH FIGLMMYGLWTPILEPERTM ILIPRFPRRVLARFYSPSPN PISRASL in isoform 6. 1 PublicationVSP_038544Add
    BLAST
    Alternative sequencei105 – 1051P → PANTCHLSA in isoform 2. 2 PublicationsVSP_038537
    Alternative sequencei106 – 12419ELPGP…REGQT → GVWLSLRGNLWFLVGWWVK in isoform 4. 3 PublicationsVSP_038538Add
    BLAST
    Alternative sequencei125 – 279155Missing in isoform 4. 3 PublicationsVSP_038539Add
    BLAST
    Alternative sequencei265 – 27915Missing in isoform 6. 1 PublicationVSP_038545Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U68566 mRNA. Translation: AAB51196.1.
    EU190982 mRNA. Translation: ABW73998.1.
    EU190983 mRNA. Translation: ABW73999.1.
    AK290626 mRNA. Translation: BAF83315.1.
    AK294298 mRNA. Translation: BAG57580.1.
    AK300676 mRNA. Translation: BAG62359.1.
    AL354980 Genomic DNA. Translation: CAH70479.1.
    AL354980 Genomic DNA. Translation: CAH70481.1.
    CH471121 Genomic DNA. Translation: EAW53212.1.
    BC005240 mRNA. Translation: AAH05240.1.
    BC014314 mRNA. Translation: AAH14314.1.
    BC015209 mRNA. Translation: AAH15209.1.
    BC016730 mRNA. Translation: AAH16730.1.
    CCDSiCCDS1064.1. [O00165-1]
    CCDS44230.1. [O00165-5]
    RefSeqiNP_001018238.1. NM_001018837.1. [O00165-5]
    NP_006109.2. NM_006118.3. [O00165-1]
    UniGeneiHs.199625.

    Genome annotation databases

    EnsembliENST00000328703; ENSP00000329002; ENSG00000143575. [O00165-1]
    ENST00000447768; ENSP00000403848; ENSG00000143575. [O00165-6]
    ENST00000457918; ENSP00000411448; ENSG00000143575. [O00165-5]
    ENST00000483970; ENSP00000435088; ENSG00000143575. [O00165-2]
    GeneIDi10456.
    KEGGihsa:10456.
    UCSCiuc001fes.3. human. [O00165-1]
    uc001fet.3. human. [O00165-5]
    uc009wou.3. human. [O00165-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    HAX1base

    HAX1 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U68566 mRNA. Translation: AAB51196.1 .
    EU190982 mRNA. Translation: ABW73998.1 .
    EU190983 mRNA. Translation: ABW73999.1 .
    AK290626 mRNA. Translation: BAF83315.1 .
    AK294298 mRNA. Translation: BAG57580.1 .
    AK300676 mRNA. Translation: BAG62359.1 .
    AL354980 Genomic DNA. Translation: CAH70479.1 .
    AL354980 Genomic DNA. Translation: CAH70481.1 .
    CH471121 Genomic DNA. Translation: EAW53212.1 .
    BC005240 mRNA. Translation: AAH05240.1 .
    BC014314 mRNA. Translation: AAH14314.1 .
    BC015209 mRNA. Translation: AAH15209.1 .
    BC016730 mRNA. Translation: AAH16730.1 .
    CCDSi CCDS1064.1. [O00165-1 ]
    CCDS44230.1. [O00165-5 ]
    RefSeqi NP_001018238.1. NM_001018837.1. [O00165-5 ]
    NP_006109.2. NM_006118.3. [O00165-1 ]
    UniGenei Hs.199625.

    3D structure databases

    ProteinModelPortali O00165.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115719. 37 interactions.
    IntActi O00165. 71 interactions.
    MINTi MINT-1137395.
    STRINGi 9606.ENSP00000329002.

    PTM databases

    PhosphoSitei O00165.

    Proteomic databases

    MaxQBi O00165.
    PaxDbi O00165.
    PRIDEi O00165.

    Protocols and materials databases

    DNASUi 10456.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000328703 ; ENSP00000329002 ; ENSG00000143575 . [O00165-1 ]
    ENST00000447768 ; ENSP00000403848 ; ENSG00000143575 . [O00165-6 ]
    ENST00000457918 ; ENSP00000411448 ; ENSG00000143575 . [O00165-5 ]
    ENST00000483970 ; ENSP00000435088 ; ENSG00000143575 . [O00165-2 ]
    GeneIDi 10456.
    KEGGi hsa:10456.
    UCSCi uc001fes.3. human. [O00165-1 ]
    uc001fet.3. human. [O00165-5 ]
    uc009wou.3. human. [O00165-2 ]

    Organism-specific databases

    CTDi 10456.
    GeneCardsi GC01P154244.
    HGNCi HGNC:16915. HAX1.
    HPAi HPA055141.
    MIMi 605998. gene.
    610738. phenotype.
    neXtProti NX_O00165.
    Orphaneti 99749. Kostmann syndrome.
    PharmGKBi PA142671700.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45051.
    HOVERGENi HBG002991.
    InParanoidi O00165.
    KOi K16220.
    OMAi PKPAPDW.
    OrthoDBi EOG7HTHJ5.
    PhylomeDBi O00165.
    TreeFami TF328619.

    Miscellaneous databases

    GeneWikii HAX1.
    GenomeRNAii 10456.
    NextBioi 39639.
    PMAP-CutDB O00165.
    PROi O00165.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00165.
    Bgeei O00165.
    CleanExi HS_HAX1.
    Genevestigatori O00165.

    Family and domain databases

    InterProi IPR017248. HS1--assoc_X-1.
    [Graphical view ]
    PIRSFi PIRSF037634. HS1-associating_X-1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases."
      Suzuki Y., Demoliere C., Kitamura D., Takeshita H., Deuschle U., Watanabe T.
      J. Immunol. 158:2736-2744(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH HCLS1, TISSUE SPECIFICITY.
      Tissue: Cervix adenocarcinoma.
    2. "Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues."
      Lees D.M., Hart I.R., Marshall J.F.
      J. Mol. Biol. 379:645-655(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6).
    3. Trebinska A., Grzybowska E.A.
      Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
      Tissue: Lung.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4).
      Tissue: Amygdala, Heart and Skeletal muscle.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-151.
      Tissue: Brain, Lung and Skin.
    8. Bienvenut W.V., Boldt K., von Kriegsheim A.F., Kolch W.
      Submitted (JUL-2007) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-17 AND 140-150, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Hepatoma.
    9. "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton."
      Gallagher A.R., Cedzich A., Gretz N., Somlo S., Witzgall R.
      Proc. Natl. Acad. Sci. U.S.A. 97:4017-4022(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PKD2.
    10. "Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1."
      Radhika V., Onesime D., Ha J.H., Dhanasekaran N.
      J. Biol. Chem. 279:49406-49413(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GNA13, FUNCTION.
    11. "Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition."
      Han Y., Chen Y.S., Liu Z., Bodyak N., Rigor D., Bisping E., Pu W.T., Kang P.M.
      Circ. Res. 99:415-423(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CASP9, FUNCTION.
    12. "HS1-associated protein X-1 regulates carcinoma cell migration and invasion via clathrin-mediated endocytosis of integrin alphavbeta6."
      Ramsay A.G., Keppler M.D., Jazayeri M., Thomas G.J., Parsons M., Violette S., Weinreb P., Hart I.R., Marshall J.F.
      Cancer Res. 67:5275-5284(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ITGB6, FUNCTION, TISSUE SPECIFICITY.
    13. "Phospholamban interacts with HAX-1, a mitochondrial protein with anti-apoptotic function."
      Vafiadaki E., Sanoudou D., Arvanitis D.A., Catino D.H., Kranias E.G., Kontrogianni-Konstantopoulos A.
      J. Mol. Biol. 367:65-79(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PLN.
    14. Cited for: INVOLVEMENT IN SCN3.
    15. "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations."
      Germeshausen M., Grudzien M., Zeidler C., Abdollahpour H., Yetgin S., Rezaei N., Ballmaier M., Grimbacher B., Welte K., Klein C.
      Blood 111:4954-4957(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SCN3, ISOFORM DEPENDENT GENOTYPE-PHENOTYPE ASSOCIATIONS.
    16. "HS 1-associated protein X-1 is cleaved by caspase-3 during apoptosis."
      Lee A.Y., Lee Y., Park Y.K., Bae K.-H., Cho S., Lee do H., Park B.C., Kang S., Park S.G.
      Mol. Cells 25:86-90(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CLEAVAGE SITE, FUNCTION.
    17. "The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival."
      Vafiadaki E., Arvanitis D.A., Pagakis S.N., Papalouka V., Sanoudou D., Kontrogianni-Konstantopoulos A., Kranias E.G.
      Mol. Biol. Cell 20:306-318(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ATP2A2 AND PLN, FUNCTION, SUBCELLULAR LOCATION.
    18. Cited for: INTERACTION WITH XIAP/BIRC4.
    19. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    20. "Grb7 binds to Hax-1 and undergoes an intramolecular domain association that offers a model for Grb7 regulation."
      Siamakpour-Reihani S., Peterson T.A., Bradford A.M., Argiros H.J., Haas L.L., Lor S.N., Haulsee Z.M., Spuches A.M., Johnson D.L., Rohrschneider L.R., Shuster C.B., Lyons B.A.
      J. Mol. Recognit. 24:314-321(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GRB7.
    21. "A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)."
      Faiyaz-Ul-Haque M., Al-Jefri A., Abalkhail H.A., Toulimat M., Al-Muallimi M.A., Pulicat M.S., Gaafar A., Alaiya A.A., Al-Dayel F., Peltekova I., Zaidi S.H.
      Clin. Genet. 76:569-572(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCN3 LEU-141.
    22. Cited for: VARIANTS SCN3 ARG-130 AND ILE-172.

    Entry informationi

    Entry nameiHAX1_HUMAN
    AccessioniPrimary (citable) accession number: O00165
    Secondary accession number(s): A8W4W9
    , A8W4X0, B4DUJ7, Q5VYD5, Q5VYD7, Q96AU4, Q9BS80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 23, 2002
    Last modified: October 1, 2014
    This is version 136 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3