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Reviewed, UniProtKB/Swiss-Prot O00165 (HAX1_HUMAN)

Last modified November 3, 2009. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    HCLS1-associated protein X-1
Alternative name(s):
    HS1-associating protein X-1
      Short name=HAX-1
    HS1-binding protein 1
Gene names
Name: HAX1
Synonyms: HS1BP1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length279 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

May function in promoting cell survival. Ref.1

Subunit structure

Directly associates with HCLS1/HS1, through binding to its N-terminal region. May also associate with cortactin/EMS1 in non-lymphoid cells.

Subcellular location

Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Note: Predominantly mitochondrial, but also to a lesser extent in endoplasmic reticulum and nuclear envelope. Ref.1

Tissue specificity

Ubiquitous. Ref.1

Involvement in disease

Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia type 3 (SCN3) [MIM:610738]; also known as 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. Ref.7

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Abcb11O701271EBI-357001,EBI-930036From a different organism.
Abcb1aQ6PSM01EBI-357001,EBI-930055From a different organism.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 279278HCLS1-associated protein X-1
PRO_0000083906

Regions

Region114 – 279166Involved in HCLS1 binding
Compositional bias30 – 4011Asp/Glu-rich (highly acidic)

Amino acid modifications

Modified residue21N-acetylserine Ref.6

Experimental info

Sequence conflict451G → R in AAB51196. Ref.1
Sequence conflict1511S → G in AAH16730. Ref.5
Sequence conflict2011Q → T in AAB51196. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O00165-1 [UniParc].

Last modified January 23, 2002. Version 2.
Checksum: 87EEF0C46857704B

FASTA27931,621
        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 

« Hide

References

« Hide 'large scale' references
[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: 9058808] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH HSCL1, TISSUE SPECIFICITY.
Tissue: Cervix adenocarcinoma.
[2]"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. expand/collapse author list , 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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Heart.
[3]"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. expand/collapse author list , 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: 16710414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain, Lung and Skin.
[6]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, MASS SPECTROMETRY.
Tissue: Hepatoma.
[7]"HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)."
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.
Nat. Genet. 39:86-92(2007) [PubMed: 17187068] [Abstract]
Cited for: INVOLVEMENT IN SCN3.
[8]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+Additional computationally mapped references.

Web resources

HAX1base

HAX1 mutation db

Cross-references

Sequence databases

U68566 mRNA. Translation: AAB51196.1.
AK290626 mRNA. Translation: BAF83315.1.
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.
IPIIPI00010440.
RefSeqNP_001018238.1.
NP_006109.2.
UniGeneHs.199625

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO00165. 10 interactions.
STRINGO00165.

Proteomic databases

PRIDEO00165.

Genome annotation databases

EnsemblENST00000328703; ENSP00000329002; ENSG00000143575; Homo sapiens. [Genome view]
ENST00000435087; ENSP00000394920; ENSG00000143575; Homo sapiens. [Genome view]
ENST00000447768; ENSP00000403848; ENSG00000143575; Homo sapiens. [Genome view]
ENST00000453365; ENSP00000397781; ENSG00000143575; Homo sapiens. [Genome view]
ENST00000457918; ENSP00000411448; ENSG00000143575; Homo sapiens. [Genome view]
GeneID10456.
KEGGhsa:10456.
UCSCuc001fes.1. human.

Organism-specific databases

CTD10456.
GeneCardsGC01P152512.
H-InvDBHIX0001103.
HGNCHGNC:16915. HAX1.
MIM605998. gene.
610738. phenotype.
Orphanet486. Autosomal dominant severe congenital neutropenia.
PharmGKBPA142671700.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO00165.
HOVERGENO00165.
OMAGRWFRSR.

Gene expression databases

ArrayExpressO00165.
BgeeO00165.
CleanExHS_HAX1.
GenevestigatorO00165.
GermOnlineENSG00000143575. Homo sapiens.

Family and domain databases

InterProIPR017248. HS1--assoc_X-1.
[Graphical view]
PIRSFPIRSF037634. HS1-associating_X-1. 1 hit.
ProtoNetSearch...

Other Resources

NextBio39639.
PMAP-CutDBO00165.
SOURCESearch...

Entry information

Entry nameHAX1_HUMAN
AccessionPrimary (citable) accession number: O00165
Secondary accession number(s): Q5VYD5, Q96AU4, Q9BS80
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2002
Last modified: November 3, 2009
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents