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UniProtKB/Swiss-Prot entry O00165


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name HAX1_HUMAN
Primary accession number O00165
Secondary accession numbers Q5VYD5 Q96AU4 Q9BS80
Integrated into Swiss-Prot on July 15, 1998
Sequence was last modified on January 23, 2002 (Sequence version 2)
Annotations were last modified on    May 26, 2009 (Entry version 81)
Name and origin of the protein
Protein name HCLS1-associated protein X-1
Synonyms HS1-associating protein X-1
HAX-1
HS1-binding protein 1
Gene name
Name: HAX1
Synonyms: HS1BP1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH HSCL1, AND TISSUE SPECIFICITY.
TISSUE=Cervix adenocarcinoma;
PubMed=9058808 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki Y., Demoliere C., Kitamura D., Takeshita H., Deuschle U., Watanabe T.;
"HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases.";
J. Immunol. 158:2736-2744(1997).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Heart;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, Lung, and Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PROTEIN SEQUENCE OF 2-17 AND 140-150, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, AND MASS SPECTROMETRY.
TISSUE=Hepatoma;
Bienvenut W.V., Boldt K., von Kriegsheim A.F., Kolch W.;
Submitted (JUL-2007) to UniProtKB.
[7]
INVOLVEMENT IN SCN3.
DOI=10.1038/ng1940; PubMed=17187068 [NCBI, ExPASy, EBI, Israel, Japan]
Klein C., Grudzien M., Appaswamy G., Germeshausen M., Sandrock I., Schaeffer A.A., Rathinam C., Boztug K., Schwinzer B., Rezaei N., Bohn G., Melin M., Carlsson G., Fadeel B., Dahl N., Palmblad J., Henter J.-I., Zeidler C., Grimbacher B., Welte K.;
"HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).";
Nat. Genet. 39:86-92(2007).
[8]
IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J., Superti-Furga G., Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
Comments
  • FUNCTION: May function in promoting cell survival.
  • SUBUNIT: Directly associates with HCLS1/HS1, through binding to its N-terminal region. May also associate with cortactin/EMS1 in non-lymphoid cells.
  • INTERACTION:
    O70127:Abcb11 (xeno); NbExp=1; IntAct=EBI-357001, EBI-930036;
    Q6PSM0:Abcb1a (xeno); NbExp=1; IntAct=EBI-357001, EBI-930055;
  • SUBCELLULAR LOCATION: Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Note=Predominantly mitochondrial, but also to a lesser extent in endoplasmic reticulum and nuclear envelope.
  • TISSUE SPECIFICITY: Ubiquitous.
  • DISEASE: 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 primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening bacterial infections.
  • WEB RESOURCE: Name=HAX1base; Note=HAX1 mutation db; URL="http://bioinf.uta.fi/HAX1base/";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U68566; AAB51196.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK290626; BAF83315.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL354980; CAH70481.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471121; EAW53212.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC005240; AAH05240.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC014314; AAH14314.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC015209; AAH15209.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC016730; AAH16730.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00010440; -.
RefSeq NP_001018238.1; -.
NP_006109.2; -.
UniGene Hs.199625
3D structure databases
ModBase O00165.
Protein-protein interaction databases
IntAct O00165; 10.
PTM databases
PhosphoSite O00165; -.
Organism-specific databases
GeneCards GC01P152512; -.
H-InvDB HIX0001103; -.
HGNC HGNC:16915; HAX1.
GenAtlas HAX1.
MIM 605998; gene. [NCBI / EBI]
610738; phenotype. [NCBI / EBI]
Orphanet 486; Severe congenital neutropenia.
PharmGKB PA142671700; -.
Gene expression databases
ArrayExpress O00165; -.
Bgee O00165; -.
CleanEx HS_HAX1; -.
GermOnline ENSG00000143575; Homo sapiens.
Ontologies
GO
GO:0015629; Cellular component: actin cytoskeleton (non-traceable author statement from UniProtKB).
GO:0005783; Cellular component: endoplasmic reticulum (traceable author statement from ProtInc).
GO:0005739; Cellular component: mitochondrion (traceable author statement from ProtInc).
GO:0031965; Cellular component: nuclear membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005625; Cellular component: soluble fraction (traceable author statement from ProtInc).
GO:0019966; Molecular function: interleukin-1 binding (inferred from direct assay from UniProtKB).
GO:0047485; Molecular function: protein N-terminus binding (inferred from direct assay from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR017248; HS1--assoc_X-1.
Graphical view of domain structure.
PIRSF PIRSF037634; HS1-associating_X-1; 1.
Proteomic databases
PRIDE O00165; -.
Genome annotation databases
Ensembl ENSG00000143575; Homo sapiens. [Contig view]
GeneID 10456; -.
KEGG hsa:10456; -.
Phylogenomic databases
HOGENOM O00165; -.
HOVERGEN O00165; -.
OMA O00165; GRWFRSR.
Other
NextBio 39639; -.
PMAP-CutDB O00165; -.
SOURCE HAX1; Homo sapiens.
ProtoNet O00165.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Acetylation; Direct protein sequencing; Endoplasmic reticulum; Membrane; Mitochondrion; Nucleus.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
INIT_MET   1     1        Removed. 
CHAIN   2   279  278     HCLS1-associated protein X-1. PRO_0000083906
REGION   114   279  166     Involved in HCLS1 binding. 
COMPBIAS   30    40  11     Asp/Glu-rich (highly acidic). 
MOD_RES   2     2        N-acetylserine. 
CONFLICT   45    45        G -> R (in Ref. 1; AAB51196). 
CONFLICT   151   151        S -> G (in Ref. 5; AAH16730). 
CONFLICT   201   201        Q -> T (in Ref. 1; AAB51196). 
Sequence information
Length: 279 AA [This is the length of the unprocessed precursor] Molecular weight: 31621 Da [This is the MW of the unprocessed precursor] CRC64: 87EEF0C46857704B [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR FHSPQHPPEE 

        70         80         90        100        110        120 
FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL PSHPPELPGP ESETPGERLR 

       130        140        150        160        170        180 
EGQTLRDSML KYPDSHQPRI FGGVLESDAR SESPQPAPDW GSQRPFHRFD DVWPMDPHPR 

       190        200        210        220        230        240 
TREDNDLDSQ VSQEGLGPVL QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV 

       250        260        270 
TRHEADSSPR GDPESPRPPA LDDAFSILDL FLGRWFRSR 

O00165 in FASTA format

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