Reviewed, UniProtKB/Swiss-Prot O00165 (HAX1_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	279 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Mitochondrion Nucleus
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Cellular component	actin cytoskeleton Non-traceable author statement. Source: UniProtKB endoplasmic reticulum Ref.1 Traceable author statement. Source: ProtInc mitochondrion Ref.1 Inferred from direct assay. Source: UniProtKB nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell soluble fraction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	interleukin-1 binding Inferred from direct assay. Source: UniProtKB protein N-terminus binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Abcb11	O70127	1	EBI-357001,EBI-930036	From a different organism.
Abcb1a	Q6PSM0	1	EBI-357001,EBI-930055	From a different organism.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.6
	Chain	2 – 279	278	HCLS1-associated protein X-1		PRO_0000083906
Regions
	Region	114 – 279	166	Involved in HCLS1 binding
	Compositional bias	30 – 40	11	Asp/Glu-rich (highly acidic)
Amino acid modifications
	Modified residue	2	1	N-acetylserine Ref.6
Experimental info
	Sequence conflict	45	1	G → R in AAB51196. Ref.1
	Sequence conflict	151	1	S → G in AAH16730. Ref.5
	Sequence conflict	201	1	Q → T in AAB51196. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O00165-1 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: 87EEF0C46857704B	FASTA	279	31,621
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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
EMBLGenBankDDBJ	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.
IPI	IPI00010440.
RefSeq	NP_001018238.1. NP_006109.2.
UniGene	Hs.199625
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O00165. 10 interactions.
STRING	O00165.
Proteomic databases
PRIDE	O00165.
Genome annotation databases
Ensembl	ENST00000328703; 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]
GeneID	10456.
KEGG	hsa:10456.
UCSC	uc001fes.1. human.
Organism-specific databases
CTD	10456.
GeneCards	GC01P152512.
H-InvDB	HIX0001103.
HGNC	HGNC:16915. HAX1.
MIM	605998. gene. 610738. phenotype.
Orphanet	486. Autosomal dominant severe congenital neutropenia.
PharmGKB	PA142671700.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O00165.
HOVERGEN	O00165.
OMA	GRWFRSR.
Gene expression databases
ArrayExpress	O00165.
Bgee	O00165.
CleanEx	HS_HAX1.
Genevestigator	O00165.
GermOnline	ENSG00000143575. Homo sapiens.
Family and domain databases
InterPro	IPR017248. HS1--assoc_X-1. [Graphical view]
PIRSF	PIRSF037634. HS1-associating_X-1. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	39639.
PMAP-CutDB	O00165.
SOURCE	Search...

Entry information

Entry name

HAX1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.