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Q2M1V0

- ISX_HUMAN

UniProt

Q2M1V0 - ISX_HUMAN

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Protein

Intestine-specific homeobox

Gene

ISX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 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

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
Complete GO annotation...

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-KW
Complete GO annotation...

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.
GeneTreeiENSGT00760000118958.
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

        10         20         30         40         50
MCAEVGPALC RGMERNSLGC CEAPKKLSLS FSIEAILKRP ARRSDMDRPE
60 70 80 90 100
GPGEEGPGEA AASGSGLEKP PKDQPQEGRK SKRRVRTTFT TEQLHELEKI
110 120 130 140 150
FHFTHYPDVH IRSQLAARIN LPEARVQIWF QNQRAKWRKQ EKIGNLGAPQ
160 170 180 190 200
QLSEASVALP TNLDVAGPTW TSTALRRLAP PTSCCPSAQD QLASAWFPAW
210 220 230 240
ITLLPAHPWE TQPVPGLPIH QTCIPVLCIL PPPHPKWGSI CATST
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.
GeneTreei ENSGT00760000118958.
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 29, 2014
This is version 78 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