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O00165

- HAX1_HUMAN

UniProt

O00165 - HAX1_HUMAN

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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

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 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
  10. regulation of apoptotic process Source: ParkinsonsUK-UCL
  11. regulation of mitochondrion degradation Source: ParkinsonsUK-UCL
  12. regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
Complete GO annotation...

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 vesicle Source: UniProtKB-KW
  3. endoplasmic reticulum Source: BHF-UCL
  4. lamellipodium Source: BHF-UCL
  5. membrane Source: UniProtKB-KW
  6. mitochondrion Source: UniProtKB
  7. nuclear envelope Source: ProtInc
  8. sarcoplasmic reticulum Source: UniProtKB-KW
  9. transcription factor complex Source: BHF-UCL
Complete GO annotation...

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

BgeeiO00165.
CleanExiHS_HAX1.
ExpressionAtlasiO00165. baseline and differential.
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. 99 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.
GeneTreeiENSGT00390000018324.
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) [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

        10         20         30         40         50
MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR
60 70 80 90 100
FHSPQHPPEE FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL
110 120 130 140 150
PSHPPELPGP ESETPGERLR EGQTLRDSML KYPDSHQPRI FGGVLESDAR
160 170 180 190 200
SESPQPAPDW GSQRPFHRFD DVWPMDPHPR TREDNDLDSQ VSQEGLGPVL
210 220 230 240 250
QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV TRHEADSSPR
260 270
GDPESPRPPA LDDAFSILDL FLGRWFRSR
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. 99 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.
GeneTreei ENSGT00390000018324.
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

Bgeei O00165.
CleanExi HS_HAX1.
ExpressionAtlasi O00165. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 137 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