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Q04741

- EMX1_HUMAN

UniProt

Q04741 - EMX1_HUMAN

Protein

Homeobox protein EMX1

Gene

EMX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (04 Jan 2005)
      Previous versions | rss
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    Functioni

    Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi159 – 21860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. brain morphogenesis Source: Ensembl
    2. cerebral cortex neuron differentiation Source: Ensembl
    3. cerebral cortex regionalization Source: Ensembl
    4. post-embryonic development Source: Ensembl
    5. response to drug Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein EMX1
    Alternative name(s):
    Empty spiracles homolog 1
    Empty spiracles-like protein 1
    Gene namesi
    Name:EMX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:3340. EMX1.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation. Cytoplasm 1 Publication
    Note: Might be shuttling between the nucleus and the cytoplasm.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27777.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 257257Homeobox protein EMX1PRO_0000048866Add
    BLAST

    Proteomic databases

    PaxDbiQ04741.
    PRIDEiQ04741.

    Expressioni

    Tissue specificityi

    Cerebral cortex.

    Gene expression databases

    ArrayExpressiQ04741.
    BgeeiQ04741.
    CleanExiHS_EMX1.
    GenevestigatoriQ04741.

    Organism-specific databases

    HPAiHPA006421.

    Interactioni

    Protein-protein interaction databases

    BioGridi108331. 7 interactions.
    STRINGi9606.ENSP00000258106.

    Structurei

    3D structure databases

    ProteinModelPortaliQ04741.
    SMRiQ04741. Positions 157-216.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG266219.
    HOGENOMiHOG000247032.
    HOVERGENiHBG005024.
    InParanoidiQ04741.
    KOiK09317.
    PhylomeDBiQ04741.
    TreeFamiTF317015.

    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 (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q04741-1) [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

    MFQPAAKRGF TIESLVAKDG GTGGGTGGGG AGSHLLAAAA SEEPLRPTAL    50
    NYPHPSAAEA AFVSGFPAAA AAGAGRSLYG GPELVFPEAM NHPALTVHPA 100
    HQLGASPLQP PHSFFGAQHR DPLHFYPWVL RNRFFGHRFQ ASDVPQDGLL 150
    LHGPFARKPK RIRTAFSPSQ LLRLERAFEK NHYVVGAERK QLAGSLSLSE 200
    TQVKVWFQNR RTKYKRQKLE EEGPESEQKK KGSHHINRWR IATKQANGED 250
    IDVTSND 257
    Length:257
    Mass (Da):28,039
    Last modified:January 4, 2005 - v2
    Checksum:i127B0BE676F14B46
    GO
    Isoform 2 (identifier: Q04741-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-138: Missing.
         139-140: FQ → MV

    Note: No experimental confirmation available.

    Show »
    Length:119
    Mass (Da):13,725
    Checksum:i38BE4315E2F30532
    GO

    Sequence cautioni

    The sequence AAH45762.2 differs from that shown. Reason: Erroneous initiation.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 138138Missing in isoform 2. 1 PublicationVSP_022145Add
    BLAST
    Alternative sequencei139 – 1402FQ → MV in isoform 2. 1 PublicationVSP_022146

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC012366 Genomic DNA. Translation: AAY14744.1.
    BC037242 mRNA. Translation: AAH37242.1.
    BC045762 mRNA. Translation: AAH45762.2. Different initiation.
    X68879 mRNA. Translation: CAA48750.1.
    PIRiS22721.
    RefSeqiNP_004088.2. NM_004097.2.
    UniGeneiHs.516090.

    Genome annotation databases

    EnsembliENST00000258106; ENSP00000258106; ENSG00000135638.
    GeneIDi2016.
    KEGGihsa:2016.
    UCSCiuc002sin.1. human. [Q04741-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC012366 Genomic DNA. Translation: AAY14744.1 .
    BC037242 mRNA. Translation: AAH37242.1 .
    BC045762 mRNA. Translation: AAH45762.2 . Different initiation.
    X68879 mRNA. Translation: CAA48750.1 .
    PIRi S22721.
    RefSeqi NP_004088.2. NM_004097.2.
    UniGenei Hs.516090.

    3D structure databases

    ProteinModelPortali Q04741.
    SMRi Q04741. Positions 157-216.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108331. 7 interactions.
    STRINGi 9606.ENSP00000258106.

    Proteomic databases

    PaxDbi Q04741.
    PRIDEi Q04741.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258106 ; ENSP00000258106 ; ENSG00000135638 .
    GeneIDi 2016.
    KEGGi hsa:2016.
    UCSCi uc002sin.1. human. [Q04741-1 ]

    Organism-specific databases

    CTDi 2016.
    GeneCardsi GC02P073148.
    HGNCi HGNC:3340. EMX1.
    HPAi HPA006421.
    MIMi 600034. gene.
    neXtProti NX_Q04741.
    PharmGKBi PA27777.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG266219.
    HOGENOMi HOG000247032.
    HOVERGENi HBG005024.
    InParanoidi Q04741.
    KOi K09317.
    PhylomeDBi Q04741.
    TreeFami TF317015.

    Miscellaneous databases

    ChiTaRSi EMX1. human.
    GeneWikii EMX1.
    GenomeRNAii 2016.
    NextBioi 8167.
    PROi Q04741.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q04741.
    Bgeei Q04741.
    CleanExi HS_EMX1.
    Genevestigatori Q04741.

    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. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    3. "Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex."
      Simeone A., Gulisano M., Acampora D., Stornaiuolo A., Rambaldi M., Boncinelli E.
      EMBO J. 11:2541-2550(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 105-257.
    4. "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."
      Kim H.G., Ahn J.W., Kurth I., Ullmann R., Kim H.T., Kulharya A., Ha K.S., Itokawa Y., Meliciani I., Wenzel W., Lee D., Rosenberger G., Ozata M., Bick D.P., Sherins R.J., Nagase T., Tekin M., Kim S.H.
      , Kim C.H., Ropers H.H., Gusella J.F., Kalscheuer V., Choi C.Y., Layman L.C.
      Am. J. Hum. Genet. 87:465-479(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH WRD11.

    Entry informationi

    Entry nameiEMX1_HUMAN
    AccessioniPrimary (citable) accession number: Q04741
    Secondary accession number(s): Q0D2P0, Q53T30, Q86XB0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: January 4, 2005
    Last modified: October 1, 2014
    This is version 124 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. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3