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Q2M1V0

- ISX_HUMAN

UniProt

Q2M1V0 - ISX_HUMAN

Protein

Intestine-specific homeobox

Gene

ISX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 2 (29 May 2007)
      Previous versions | rss
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    Functioni

    Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCMO1 expression in the intestine By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi82 – 14160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. regulation of transcription from RNA polymerase II promoter Source: Ensembl
    2. regulation of vitamin A metabolic process Source: Ensembl
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Intestine-specific homeobox
    Alternative name(s):
    RAX-like homeobox
    Gene namesi
    Name:ISX
    Synonyms:RAXLX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:28084. ISX.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA147357909.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 245245Intestine-specific homeoboxPRO_0000288602Add
    BLAST

    Proteomic databases

    PRIDEiQ2M1V0.

    PTM databases

    PhosphoSiteiQ2M1V0.

    Expressioni

    Gene expression databases

    BgeeiQ2M1V0.
    CleanExiHS_ISX.
    GenevestigatoriQ2M1V0.

    Organism-specific databases

    HPAiHPA060328.

    Interactioni

    Protein-protein interaction databases

    BioGridi124838. 2 interactions.
    IntActiQ2M1V0. 1 interaction.
    STRINGi9606.ENSP00000311492.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2M1V0.
    SMRiQ2M1V0. Positions 84-141.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG252360.
    HOGENOMiHOG000052524.
    HOVERGENiHBG096596.
    InParanoidiQ2M1V0.
    OMAiCCEAPKK.
    OrthoDBiEOG7MSMQF.
    PhylomeDBiQ2M1V0.
    TreeFamiTF315976.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q2M1V0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCAEVGPALC RGMERNSLGC CEAPKKLSLS FSIEAILKRP ARRSDMDRPE    50
    GPGEEGPGEA AASGSGLEKP PKDQPQEGRK SKRRVRTTFT TEQLHELEKI 100
    FHFTHYPDVH IRSQLAARIN LPEARVQIWF QNQRAKWRKQ EKIGNLGAPQ 150
    QLSEASVALP TNLDVAGPTW TSTALRRLAP PTSCCPSAQD QLASAWFPAW 200
    ITLLPAHPWE TQPVPGLPIH QTCIPVLCIL PPPHPKWGSI CATST 245
    Length:245
    Mass (Da):27,011
    Last modified:May 29, 2007 - v2
    Checksum:i361FB0447DC6C02D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → G.1 Publication
    Corresponds to variant rs361863 [ dbSNP | Ensembl ].
    VAR_032448
    Natural varianti57 – 571P → S.1 Publication
    Corresponds to variant rs362090 [ dbSNP | Ensembl ].
    VAR_032449
    Natural varianti83 – 831R → Q.
    Corresponds to variant rs8140287 [ dbSNP | Ensembl ].
    VAR_032450
    Natural varianti158 – 1581A → V.
    Corresponds to variant rs7291048 [ dbSNP | Ensembl ].
    VAR_032451

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CR749372 mRNA. Translation: CAH18225.1.
    Z83853, AL024494 Genomic DNA. Translation: CAI18752.1.
    AL024494, Z83853 Genomic DNA. Translation: CAI19818.1.
    BC112212 mRNA. Translation: AAI12213.1.
    BC113633 mRNA. Translation: AAI13634.1.
    CCDSiCCDS33640.1.
    RefSeqiNP_001008494.1. NM_001008494.1.
    UniGeneiHs.567637.

    Genome annotation databases

    EnsembliENST00000308700; ENSP00000311492; ENSG00000175329.
    ENST00000404699; ENSP00000386037; ENSG00000175329.
    GeneIDi91464.
    KEGGihsa:91464.
    UCSCiuc003anj.3. human.

    Polymorphism databases

    DMDMi150387849.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CR749372 mRNA. Translation: CAH18225.1 .
    Z83853 , AL024494 Genomic DNA. Translation: CAI18752.1 .
    AL024494 , Z83853 Genomic DNA. Translation: CAI19818.1 .
    BC112212 mRNA. Translation: AAI12213.1 .
    BC113633 mRNA. Translation: AAI13634.1 .
    CCDSi CCDS33640.1.
    RefSeqi NP_001008494.1. NM_001008494.1.
    UniGenei Hs.567637.

    3D structure databases

    ProteinModelPortali Q2M1V0.
    SMRi Q2M1V0. Positions 84-141.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124838. 2 interactions.
    IntActi Q2M1V0. 1 interaction.
    STRINGi 9606.ENSP00000311492.

    PTM databases

    PhosphoSitei Q2M1V0.

    Polymorphism databases

    DMDMi 150387849.

    Proteomic databases

    PRIDEi Q2M1V0.

    Protocols and materials databases

    DNASUi 91464.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308700 ; ENSP00000311492 ; ENSG00000175329 .
    ENST00000404699 ; ENSP00000386037 ; ENSG00000175329 .
    GeneIDi 91464.
    KEGGi hsa:91464.
    UCSCi uc003anj.3. human.

    Organism-specific databases

    CTDi 91464.
    GeneCardsi GC22P035462.
    HGNCi HGNC:28084. ISX.
    HPAi HPA060328.
    MIMi 612019. gene.
    neXtProti NX_Q2M1V0.
    PharmGKBi PA147357909.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG252360.
    HOGENOMi HOG000052524.
    HOVERGENi HBG096596.
    InParanoidi Q2M1V0.
    OMAi CCEAPKK.
    OrthoDBi EOG7MSMQF.
    PhylomeDBi Q2M1V0.
    TreeFami TF315976.

    Miscellaneous databases

    GenomeRNAii 91464.
    NextBioi 77268.
    PROi Q2M1V0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q2M1V0.
    CleanExi HS_ISX.
    Genevestigatori Q2M1V0.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Colon carcinoma.
    2. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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], VARIANTS GLY-28 AND SER-57.

    Entry informationi

    Entry nameiISX_HUMAN
    AccessioniPrimary (citable) accession number: Q2M1V0
    Secondary accession number(s): Q68DJ5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: May 29, 2007
    Last modified: October 1, 2014
    This is version 77 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 22
      Human chromosome 22: 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