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P49639

- HXA1_HUMAN

UniProt

P49639 - HXA1_HUMAN

Protein

Homeobox protein Hox-A1

Gene

HOXA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    Functioni

    Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi229 – 28860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. abducens nerve formation Source: DFLAT
    2. anatomical structure morphogenesis Source: DFLAT
    3. anterior/posterior pattern specification Source: Ensembl
    4. artery development Source: DFLAT
    5. artery morphogenesis Source: DFLAT
    6. central nervous system neuron differentiation Source: Ensembl
    7. cochlea development Source: DFLAT
    8. cochlea morphogenesis Source: DFLAT
    9. cognition Source: DFLAT
    10. embryonic neurocranium morphogenesis Source: DFLAT
    11. facial nerve structural organization Source: Ensembl
    12. facial nucleus development Source: Ensembl
    13. inner ear development Source: DFLAT
    14. motor neuron axon guidance Source: Ensembl
    15. multicellular organismal development Source: ProtInc
    16. neuromuscular process Source: DFLAT
    17. optokinetic behavior Source: DFLAT
    18. outer ear morphogenesis Source: DFLAT
    19. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    20. regulation of behavior Source: DFLAT
    21. rhombomere 3 development Source: Ensembl
    22. rhombomere 4 development Source: Ensembl
    23. rhombomere 5 development Source: Ensembl
    24. semicircular canal formation Source: DFLAT
    25. sensory perception of sound Source: DFLAT
    26. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Hox-A1
    Alternative name(s):
    Homeobox protein Hox-1F
    Gene namesi
    Name:HOXA1
    Synonyms:HOX1F
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:5099. HOXA1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi601536. phenotype.
    Orphaneti69739. Athabaskan brainstem dysgenesis syndrome.
    69737. Bosley-Salih-Alorainy syndrome.
    PharmGKBiPA29376.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 335335Homeobox protein Hox-A1PRO_0000200030Add
    BLAST

    Proteomic databases

    PaxDbiP49639.
    PRIDEiP49639.

    PTM databases

    PhosphoSiteiP49639.

    Expressioni

    Gene expression databases

    ArrayExpressiP49639.
    BgeeiP49639.
    CleanExiHS_HOXA1.
    GenevestigatoriP49639.

    Organism-specific databases

    HPAiHPA004933.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Hoxa1P090224EBI-740785,EBI-3957603From a different organism.
    PRNPP041564EBI-740785,EBI-977302
    SUV39H1O434632EBI-740785,EBI-349968

    Protein-protein interaction databases

    BioGridi109438. 54 interactions.
    IntActiP49639. 16 interactions.
    MINTiMINT-1437157.
    STRINGi9606.ENSP00000343246.

    Structurei

    3D structure databases

    ProteinModelPortaliP49639.
    SMRiP49639. Positions 202-290.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi204 – 2096Antp-type hexapeptide

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi65 – 7410Poly-His
    Compositional biasi142 – 1465Poly-His
    Compositional biasi314 – 3174Poly-Ser

    Sequence similaritiesi

    Belongs to the Antp homeobox family. Labial subfamily.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG236971.
    HOGENOMiHOG000247020.
    HOVERGENiHBG006089.
    InParanoidiP49639.
    KOiK09301.
    OrthoDBiEOG7PK91P.
    PhylomeDBiP49639.
    TreeFamiTF317730.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: P49639-1) [UniParc]FASTAAdd to Basket

    Also known as: 36 kDa

    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

    MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD    50
    DRFLVGRGVQ IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG 100
    SQNFSAPYSP YALNQEADVS GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA 150
    GGAVGSPQYI HHSYGQEHQS LALATYNNSL SPLHASHQEA CRSPASETSS 200
    PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ LTELEKEFHF 250
    NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP 300
    PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH 335
    Length:335
    Mass (Da):36,641
    Last modified:July 15, 1999 - v2
    Checksum:i3C3A2D0A59A4181C
    GO
    Isoform 1 (identifier: P49639-2) [UniParc]FASTAAdd to Basket

    Also known as: 14 kDa

    The sequence of this isoform differs from the canonical sequence as follows:
         119-137: VSGGYPQCAPAVYSGNLSS → PPRSLSLPRIGDIFSSADF
         138-335: Missing.

    Note: Lacks the homeobox domain.

    Show »
    Length:137
    Mass (Da):14,816
    Checksum:i9F0067A9E6AD51DE
    GO
    Isoform 2 (identifier: P49639-3) [UniParc]FASTAAdd to Basket

    Also known as: 24 kDa

    The sequence of this isoform differs from the canonical sequence as follows:
         219-227: KVGEYGYLG → QSCWLVDAP
         228-335: Missing.

    Note: Lacks the homeobox domain.

    Show »
    Length:227
    Mass (Da):24,489
    Checksum:i81A54EF51FB0F033
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731H → R Frequent polymorphism in individuals of European or African origin. 2 Publications
    Corresponds to variant rs10951154 [ dbSNP | Ensembl ].
    VAR_010305
    Natural varianti189 – 1891E → A.
    Corresponds to variant rs17500494 [ dbSNP | Ensembl ].
    VAR_030576

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei119 – 13719VSGGY…GNLSS → PPRSLSLPRIGDIFSSADF in isoform 1. 1 PublicationVSP_002376Add
    BLAST
    Alternative sequencei138 – 335198Missing in isoform 1. 1 PublicationVSP_002377Add
    BLAST
    Alternative sequencei219 – 2279KVGEYGYLG → QSCWLVDAP in isoform 2. 1 PublicationVSP_002378
    Alternative sequencei228 – 335108Missing in isoform 2. 1 PublicationVSP_002379Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U10421 mRNA. Translation: AAA86954.1.
    AK313514 mRNA. Translation: BAG36294.1.
    AC004079 Genomic DNA. Translation: AAS00374.1.
    CH236948 Genomic DNA. Translation: EAL24228.1.
    CH471073 Genomic DNA. Translation: EAW93861.1.
    BC032547 mRNA. Translation: AAH32547.1.
    U37431 mRNA. Translation: AAC50248.1.
    U37431 mRNA. Translation: AAC50249.1.
    U37431 mRNA. Translation: AAC50250.1.
    S79869 mRNA. Translation: AAB35424.2.
    S79871 mRNA. Translation: AAB35425.1.
    S79910 mRNA. Translation: AAB35423.2.
    CCDSiCCDS5401.1. [P49639-1]
    CCDS5402.2. [P49639-2]
    PIRiG01448.
    RefSeqiNP_005513.1. NM_005522.4. [P49639-1]
    NP_705873.2. NM_153620.2. [P49639-2]
    UniGeneiHs.67397.

    Genome annotation databases

    EnsembliENST00000343060; ENSP00000343246; ENSG00000105991.
    GeneIDi3198.
    KEGGihsa:3198.
    UCSCiuc003syd.3. human. [P49639-2]
    uc003sye.3. human. [P49639-1]
    uc022aao.1. human. [P49639-3]

    Polymorphism databases

    DMDMi6166216.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U10421 mRNA. Translation: AAA86954.1 .
    AK313514 mRNA. Translation: BAG36294.1 .
    AC004079 Genomic DNA. Translation: AAS00374.1 .
    CH236948 Genomic DNA. Translation: EAL24228.1 .
    CH471073 Genomic DNA. Translation: EAW93861.1 .
    BC032547 mRNA. Translation: AAH32547.1 .
    U37431 mRNA. Translation: AAC50248.1 .
    U37431 mRNA. Translation: AAC50249.1 .
    U37431 mRNA. Translation: AAC50250.1 .
    S79869 mRNA. Translation: AAB35424.2 .
    S79871 mRNA. Translation: AAB35425.1 .
    S79910 mRNA. Translation: AAB35423.2 .
    CCDSi CCDS5401.1. [P49639-1 ]
    CCDS5402.2. [P49639-2 ]
    PIRi G01448.
    RefSeqi NP_005513.1. NM_005522.4. [P49639-1 ]
    NP_705873.2. NM_153620.2. [P49639-2 ]
    UniGenei Hs.67397.

    3D structure databases

    ProteinModelPortali P49639.
    SMRi P49639. Positions 202-290.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109438. 54 interactions.
    IntActi P49639. 16 interactions.
    MINTi MINT-1437157.
    STRINGi 9606.ENSP00000343246.

    Chemistry

    BindingDBi P49639.

    PTM databases

    PhosphoSitei P49639.

    Polymorphism databases

    DMDMi 6166216.

    Proteomic databases

    PaxDbi P49639.
    PRIDEi P49639.

    Protocols and materials databases

    DNASUi 3198.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343060 ; ENSP00000343246 ; ENSG00000105991 .
    GeneIDi 3198.
    KEGGi hsa:3198.
    UCSCi uc003syd.3. human. [P49639-2 ]
    uc003sye.3. human. [P49639-1 ]
    uc022aao.1. human. [P49639-3 ]

    Organism-specific databases

    CTDi 3198.
    GeneCardsi GC07M027099.
    HGNCi HGNC:5099. HOXA1.
    HPAi HPA004933.
    MIMi 142955. gene.
    601536. phenotype.
    neXtProti NX_P49639.
    Orphaneti 69739. Athabaskan brainstem dysgenesis syndrome.
    69737. Bosley-Salih-Alorainy syndrome.
    PharmGKBi PA29376.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236971.
    HOGENOMi HOG000247020.
    HOVERGENi HBG006089.
    InParanoidi P49639.
    KOi K09301.
    OrthoDBi EOG7PK91P.
    PhylomeDBi P49639.
    TreeFami TF317730.

    Miscellaneous databases

    GeneWikii Homeobox_A1.
    GenomeRNAii 3198.
    NextBioi 12718.
    PROi P49639.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P49639.
    Bgeei P49639.
    CleanExi HS_HOXA1.
    Genevestigatori P49639.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure and function of the HOX A1 human homeobox gene cDNA."
      Hong Y.S., Kim S.Y., Bhattacharya A., Pratt D.R., Hong W.K., Tainsky M.A.
      Gene 159:209-214(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Ovary.
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ARG-73.
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 3).
      Tissue: Skin.
    7. "Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells."
      Chariot A., Moreau L., Senterre G., Sobel M., Castronovo V.
      Biochem. Biophys. Res. Commun. 215:713-720(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-335 (ISOFORMS 1; 2 AND 3).
    8. "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders."
      Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R., Rodier P.M.
      Teratology 62:393-405(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-73.
    9. "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development."
      Tischfield M.A., Bosley T.M., Salih M.A.M., Alorainy I.A., Sener E.C., Nester M.J., Oystreck D.T., Chan W.-M., Andrews C., Erickson R.P., Engle E.C.
      Nat. Genet. 37:1035-1037(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ABDS AND BSAS.

    Entry informationi

    Entry nameiHXA1_HUMAN
    AccessioniPrimary (citable) accession number: P49639
    Secondary accession number(s): A4D184, B2R8U7, O43363
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 152 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, Reference proteome

    Documents

    1. Vertebrate homeotic Hox proteins
      Nomenclature of vertebrate homeotic Hox proteins and list of entries
    2. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3