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P50219

- MNX1_HUMAN

UniProt

P50219 - MNX1_HUMAN

Protein

Motor neuron and pancreas homeobox protein 1

Gene

MNX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 3 (22 Sep 2009)
      Previous versions | rss
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    Functioni

    Putative transcription factor involved in pancreas development and function.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi241 – 30060HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. diaphragm development Source: Ensembl
    3. dorsal/ventral neural tube patterning Source: Ensembl
    4. endocrine pancreas development Source: Ensembl
    5. humoral immune response Source: ProtInc
    6. motor neuron axon guidance Source: Ensembl
    7. nerve development Source: Ensembl
    8. neuron migration Source: Ensembl
    9. post-embryonic development Source: Ensembl
    10. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    11. spinal cord motor neuron cell fate specification Source: Ensembl
    12. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Motor neuron and pancreas homeobox protein 1
    Alternative name(s):
    Homeobox protein HB9
    Gene namesi
    Name:MNX1
    Synonyms:HLXB9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:4979. MNX1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Currarino syndrome (CURRAS) [MIM:176450]: The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti243 – 2431R → W in CURRAS. 1 Publication
    VAR_068473
    Natural varianti245 – 2451R → G in CURRAS. 1 Publication
    VAR_017874
    Natural varianti245 – 2451R → H in CURRAS. 1 Publication
    VAR_017875
    Natural varianti246 – 2461T → S in CURRAS. 1 Publication
    VAR_017876
    Natural varianti288 – 2881W → G in CURRAS. 2 Publications
    VAR_017877
    Natural varianti288 – 2881W → L in CURRAS. 1 Publication
    VAR_017878
    Natural varianti289 – 2891F → S in CURRAS. 1 Publication
    VAR_068474
    Natural varianti290 – 2901Q → P in CURRAS. 1 Publication
    VAR_017879
    Natural varianti292 – 2921R → W in CURRAS. 1 Publication
    VAR_017880
    Natural varianti293 – 2931R → Q in CURRAS. 1 Publication
    VAR_017881
    Natural varianti293 – 2931R → W in CURRAS. 1 Publication
    VAR_017882

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi176450. phenotype.
    Orphaneti1552. Currarino triad.
    PharmGKBiPA162396041.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 401401Motor neuron and pancreas homeobox protein 1PRO_0000048905Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP50219.
    PaxDbiP50219.
    PRIDEiP50219.

    PTM databases

    PhosphoSiteiP50219.

    Expressioni

    Tissue specificityi

    Expressed in lymphoid and pancreatic tissues.

    Gene expression databases

    ArrayExpressiP50219.
    BgeeiP50219.
    CleanExiHS_MNX1.
    GenevestigatoriP50219.

    Interactioni

    Protein-protein interaction databases

    BioGridi109355. 1 interaction.
    STRINGi9606.ENSP00000252971.

    Structurei

    3D structure databases

    ProteinModelPortaliP50219.
    SMRiP50219. Positions 239-300.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi35 – 384Poly-Ala
    Compositional biasi40 – 4910Poly-Gly
    Compositional biasi98 – 11215Poly-GlyAdd
    BLAST
    Compositional biasi121 – 13414Poly-AlaAdd
    BLAST
    Compositional biasi168 – 1769Poly-Ala
    Compositional biasi315 – 32410Poly-Gly

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG322049.
    HOGENOMiHOG000234345.
    HOVERGENiHBG051910.
    InParanoidiP50219.
    KOiK08025.
    OrthoDBiEOG7VHT0H.
    PhylomeDBiP50219.
    TreeFamiTF351530.

    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: P50219-1) [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

    MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA    50
    SGGTSGSCSP ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG 100
    GGGGGTGGGH GGPHHHAHPG AAAAAAAAAA AAAAGGLALG LHPGGAQGGA 150
    GLPAQAALYG HPVYGYSAAA AAAALAGQHP ALSYSYPQVQ GAHPAHPADP 200
    IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK CRRPRTAFTS 250
    QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK 300
    KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD 350
    LRDSDPEEDE DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP 400
    Q 401
    Length:401
    Mass (Da):40,569
    Last modified:September 22, 2009 - v3
    Checksum:i67527C8F789DFFDB
    GO
    Isoform 2 (identifier: P50219-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-212: Missing.
         213-231: WLRASTAGMILPKMPDFNS → MGGLSTVGACPGILGAQQA

    Note: Gene prediction based on EST data.

    Show »
    Length:189
    Mass (Da):20,553
    Checksum:iF227EEDC4874B856
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti10 – 3728DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647. (PubMed:7914194)CuratedAdd
    BLAST
    Sequence conflicti121 – 1211A → AAA in AAB60647. (PubMed:7914194)Curated
    Sequence conflicti121 – 1211A → ARA in AAD41467. (PubMed:10329000)Curated
    Sequence conflicti262 – 2621L → F in AAB60647. (PubMed:7914194)Curated
    Sequence conflicti340 – 3401G → R in AAB60647. (PubMed:7914194)Curated
    Sequence conflicti346 – 3494RRLR → PPA in AAB60647. (PubMed:7914194)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti243 – 2431R → W in CURRAS. 1 Publication
    VAR_068473
    Natural varianti245 – 2451R → G in CURRAS. 1 Publication
    VAR_017874
    Natural varianti245 – 2451R → H in CURRAS. 1 Publication
    VAR_017875
    Natural varianti246 – 2461T → S in CURRAS. 1 Publication
    VAR_017876
    Natural varianti288 – 2881W → G in CURRAS. 2 Publications
    VAR_017877
    Natural varianti288 – 2881W → L in CURRAS. 1 Publication
    VAR_017878
    Natural varianti289 – 2891F → S in CURRAS. 1 Publication
    VAR_068474
    Natural varianti290 – 2901Q → P in CURRAS. 1 Publication
    VAR_017879
    Natural varianti292 – 2921R → W in CURRAS. 1 Publication
    VAR_017880
    Natural varianti293 – 2931R → Q in CURRAS. 1 Publication
    VAR_017881
    Natural varianti293 – 2931R → W in CURRAS. 1 Publication
    VAR_017882

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 212212Missing in isoform 2. CuratedVSP_046773Add
    BLAST
    Alternative sequencei213 – 23119WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2. CuratedVSP_046774Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U07664, U07663 Genomic DNA. Translation: AAB60647.1.
    AC006357 Genomic DNA. No translation available.
    AH007909 Genomic DNA. Translation: AAD41467.1.
    CCDSiCCDS34788.1. [P50219-1]
    CCDS55187.1. [P50219-2]
    RefSeqiNP_001158727.1. NM_001165255.1. [P50219-2]
    NP_005506.3. NM_005515.3. [P50219-1]
    UniGeneiHs.37035.

    Genome annotation databases

    EnsembliENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
    ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
    GeneIDi3110.
    KEGGihsa:3110.
    UCSCiuc003wna.3. human. [P50219-1]

    Polymorphism databases

    DMDMi259016336.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U07664 , U07663 Genomic DNA. Translation: AAB60647.1 .
    AC006357 Genomic DNA. No translation available.
    AH007909 Genomic DNA. Translation: AAD41467.1 .
    CCDSi CCDS34788.1. [P50219-1 ]
    CCDS55187.1. [P50219-2 ]
    RefSeqi NP_001158727.1. NM_001165255.1. [P50219-2 ]
    NP_005506.3. NM_005515.3. [P50219-1 ]
    UniGenei Hs.37035.

    3D structure databases

    ProteinModelPortali P50219.
    SMRi P50219. Positions 239-300.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109355. 1 interaction.
    STRINGi 9606.ENSP00000252971.

    PTM databases

    PhosphoSitei P50219.

    Polymorphism databases

    DMDMi 259016336.

    Proteomic databases

    MaxQBi P50219.
    PaxDbi P50219.
    PRIDEi P50219.

    Protocols and materials databases

    DNASUi 3110.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252971 ; ENSP00000252971 ; ENSG00000130675 . [P50219-1 ]
    ENST00000543409 ; ENSP00000438552 ; ENSG00000130675 . [P50219-2 ]
    GeneIDi 3110.
    KEGGi hsa:3110.
    UCSCi uc003wna.3. human. [P50219-1 ]

    Organism-specific databases

    CTDi 3110.
    GeneCardsi GC07M156786.
    H-InvDB HIX0033536.
    HGNCi HGNC:4979. MNX1.
    MIMi 142994. gene.
    176450. phenotype.
    neXtProti NX_P50219.
    Orphaneti 1552. Currarino triad.
    PharmGKBi PA162396041.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG322049.
    HOGENOMi HOG000234345.
    HOVERGENi HBG051910.
    InParanoidi P50219.
    KOi K08025.
    OrthoDBi EOG7VHT0H.
    PhylomeDBi P50219.
    TreeFami TF351530.

    Miscellaneous databases

    GeneWikii MNX1.
    GenomeRNAii 3110.
    NextBioi 12341.
    PROi P50219.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50219.
    Bgeei P50219.
    CleanExi HS_MNX1.
    Genevestigatori P50219.

    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. "A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues."
      Harrison K.A., Druey K.M., Deguchi Y., Tuscano J.M., Kehrl J.H.
      J. Biol. Chem. 269:19968-19975(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
      Tissue: Placenta.
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-353 (ISOFORM 1).
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: VARIANTS CURRAS SER-246 AND TRP-293.
    7. Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.
    8. Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.
    9. "Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype."
      Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T., Nordenskjold A.
      Gene 507:50-53(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CURRAS SER-289.

    Entry informationi

    Entry nameiMNX1_HUMAN
    AccessioniPrimary (citable) accession number: P50219
    Secondary accession number(s): F5H401, Q9Y648
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: September 22, 2009
    Last modified: October 1, 2014
    This is version 125 of the entry and version 3 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 7
      Human chromosome 7: 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