ID   HAX1_HUMAN              Reviewed;         279 AA.
AC   O00165; Q5VYD5; Q96AU4; Q9BS80;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2002, sequence version 2.
DT   03-NOV-2009, entry version 87.
DE   RecName: Full=HCLS1-associated protein X-1;
DE   AltName: Full=HS1-associating protein X-1;
DE            Short=HAX-1;
DE   AltName: Full=HS1-binding protein 1;
GN   Name=HAX1; Synonyms=HS1BP1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION,
RP   INTERACTION WITH HSCL1, AND TISSUE SPECIFICITY.
RC   TISSUE=Cervix adenocarcinoma;
RX   MEDLINE=97211841; PubMed=9058808;
RA   Suzuki Y., Demoliere C., Kitamura D., Takeshita H., Deuschle U.,
RA   Watanabe T.;
RT   "HAX-1, a novel intracellular protein, localized on mitochondria,
RT   directly associates with HS1, a substrate of Src family tyrosine
RT   kinases.";
RL   J. Immunol. 158:2736-2744(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Heart;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA   Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA   Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA   McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA   Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA   Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA   Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA   Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA   Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA   Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA   Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA   Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA   Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA   Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA   Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA   Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA   Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA   Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA   Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA   Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA   Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA   Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA   Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain, Lung, and Skin;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   PROTEIN SEQUENCE OF 2-17 AND 140-150, CLEAVAGE OF INITIATOR
RP   METHIONINE, ACETYLATION AT SER-2, AND MASS SPECTROMETRY.
RC   TISSUE=Hepatoma;
RA   Bienvenut W.V., Boldt K., von Kriegsheim A.F., Kolch W.;
RL   Submitted (JUL-2007) to UniProtKB.
RN   [7]
RP   INVOLVEMENT IN SCN3.
RX   PubMed=17187068; DOI=10.1038/ng1940;
RA   Klein C., Grudzien M., Appaswamy G., Germeshausen M., Sandrock I.,
RA   Schaeffer A.A., Rathinam C., Boztug K., Schwinzer B., Rezaei N.,
RA   Bohn G., Melin M., Carlsson G., Fadeel B., Dahl N., Palmblad J.,
RA   Henter J.-I., Zeidler C., Grimbacher B., Welte K.;
RT   "HAX1 deficiency causes autosomal recessive severe congenital
RT   neutropenia (Kostmann disease).";
RL   Nat. Genet. 39:86-92(2007).
RN   [8]
RP   IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RA   Colinge J., Superti-Furga G., Bennett K.L.;
RL   Submitted (OCT-2008) to UniProtKB.
CC   -!- FUNCTION: May function in promoting cell survival.
CC   -!- SUBUNIT: Directly associates with HCLS1/HS1, through binding to
CC       its N-terminal region. May also associate with cortactin/EMS1 in
CC       non-lymphoid cells.
CC   -!- INTERACTION:
CC       O70127:Abcb11 (xeno); NbExp=1; IntAct=EBI-357001, EBI-930036;
CC       Q6PSM0:Abcb1a (xeno); NbExp=1; IntAct=EBI-357001, EBI-930055;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion. Endoplasmic reticulum.
CC       Nucleus membrane. Note=Predominantly mitochondrial, but also to a
CC       lesser extent in endoplasmic reticulum and nuclear envelope.
CC   -!- TISSUE SPECIFICITY: Ubiquitous.
CC   -!- DISEASE: Defects in HAX1 are the cause of autosomal recessive
CC       severe congenital neutropenia type 3 (SCN3) [MIM:610738]; also
CC       known as Kostmann disease. Autosomal recessive SCN constitutes a
CC       primary immunodeficiency syndrome associated with increased
CC       apoptosis in myeloid cells. Individuals show a paucity of mature
CC       neutrophils in peripheral blood and bone marrow and develop life-
CC       threatening bacterial infections.
CC   -!- WEB RESOURCE: Name=HAX1base; Note=HAX1 mutation db;
CC       URL="http://bioinf.uta.fi/HAX1base/";
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DR   EMBL; U68566; AAB51196.1; -; mRNA.
DR   EMBL; AK290626; BAF83315.1; -; mRNA.
DR   EMBL; AL354980; CAH70481.1; -; Genomic_DNA.
DR   EMBL; CH471121; EAW53212.1; -; Genomic_DNA.
DR   EMBL; BC005240; AAH05240.1; -; mRNA.
DR   EMBL; BC014314; AAH14314.1; -; mRNA.
DR   EMBL; BC015209; AAH15209.1; -; mRNA.
DR   EMBL; BC016730; AAH16730.1; -; mRNA.
DR   IPI; IPI00010440; -.
DR   RefSeq; NP_001018238.1; -.
DR   RefSeq; NP_006109.2; -.
DR   UniGene; Hs.199625; -.
DR   IntAct; O00165; 10.
DR   STRING; O00165; -.
DR   PRIDE; O00165; -.
DR   Ensembl; ENST00000328703; ENSP00000329002; ENSG00000143575; Homo sapiens.
DR   Ensembl; ENST00000435087; ENSP00000394920; ENSG00000143575; Homo sapiens.
DR   Ensembl; ENST00000447768; ENSP00000403848; ENSG00000143575; Homo sapiens.
DR   Ensembl; ENST00000453365; ENSP00000397781; ENSG00000143575; Homo sapiens.
DR   Ensembl; ENST00000457918; ENSP00000411448; ENSG00000143575; Homo sapiens.
DR   GeneID; 10456; -.
DR   KEGG; hsa:10456; -.
DR   UCSC; uc001fes.1; human.
DR   CTD; 10456; -.
DR   GeneCards; GC01P152512; -.
DR   H-InvDB; HIX0001103; -.
DR   HGNC; HGNC:16915; HAX1.
DR   MIM; 605998; gene.
DR   MIM; 610738; phenotype.
DR   Orphanet; 486; Autosomal dominant severe congenital neutropenia.
DR   PharmGKB; PA142671700; -.
DR   HOGENOM; O00165; -.
DR   HOVERGEN; O00165; -.
DR   OMA; GRWFRSR; -.
DR   NextBio; 39639; -.
DR   PMAP-CutDB; O00165; -.
DR   ArrayExpress; O00165; -.
DR   Bgee; O00165; -.
DR   CleanEx; HS_HAX1; -.
DR   Genevestigator; O00165; -.
DR   GermOnline; ENSG00000143575; Homo sapiens.
DR   GO; GO:0015629; C:actin cytoskeleton; NAS:UniProtKB.
DR   GO; GO:0005783; C:endoplasmic reticulum; TAS:ProtInc.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005625; C:soluble fraction; TAS:ProtInc.
DR   GO; GO:0019966; F:interleukin-1 binding; IDA:UniProtKB.
DR   GO; GO:0047485; F:protein N-terminus binding; IDA:UniProtKB.
DR   InterPro; IPR017248; HS1--assoc_X-1.
DR   PIRSF; PIRSF037634; HS1-associating_X-1; 1.
PE   1: Evidence at protein level;
KW   Acetylation; Complete proteome; Direct protein sequencing;
KW   Endoplasmic reticulum; Membrane; Mitochondrion; Nucleus.
FT   INIT_MET      1      1       Removed.
FT   CHAIN         2    279       HCLS1-associated protein X-1.
FT                                /FTId=PRO_0000083906.
FT   REGION      114    279       Involved in HCLS1 binding.
FT   COMPBIAS     30     40       Asp/Glu-rich (highly acidic).
FT   MOD_RES       2      2       N-acetylserine.
FT   CONFLICT     45     45       G -> R (in Ref. 1; AAB51196).
FT   CONFLICT    151    151       S -> G (in Ref. 5; AAH16730).
FT   CONFLICT    201    201       Q -> T (in Ref. 1; AAB51196).
SQ   SEQUENCE   279 AA;  31621 MW;  87EEF0C46857704B CRC64;
     MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR FHSPQHPPEE
     FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL PSHPPELPGP ESETPGERLR
     EGQTLRDSML KYPDSHQPRI FGGVLESDAR SESPQPAPDW GSQRPFHRFD DVWPMDPHPR
     TREDNDLDSQ VSQEGLGPVL QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV
     TRHEADSSPR GDPESPRPPA LDDAFSILDL FLGRWFRSR
//