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Q2M1V0 (ISX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Intestine-specific homeobox
Alternative name(s):
RAX-like homeobox
Gene names
Name:ISX
Synonyms:RAXLX
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length245 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 245245Intestine-specific homeobox
PRO_0000288602

Regions

DNA binding82 – 14160Homeobox

Natural variations

Natural variant281S → G. Ref.3
Corresponds to variant rs361863 [ dbSNP | Ensembl ].
VAR_032448
Natural variant571P → S. Ref.3
Corresponds to variant rs362090 [ dbSNP | Ensembl ].
VAR_032449
Natural variant831R → Q.
Corresponds to variant rs8140287 [ dbSNP | Ensembl ].
VAR_032450
Natural variant1581A → V.
Corresponds to variant rs7291048 [ dbSNP | Ensembl ].
VAR_032451

Sequences

Sequence LengthMass (Da)Tools
Q2M1V0 [UniParc].

Last modified May 29, 2007. Version 2.
Checksum: 361FB0447DC6C02D

FASTA24527,011
        10         20         30         40         50         60 
MCAEVGPALC RGMERNSLGC CEAPKKLSLS FSIEAILKRP ARRSDMDRPE GPGEEGPGEA 

        70         80         90        100        110        120 
AASGSGLEKP PKDQPQEGRK SKRRVRTTFT TEQLHELEKI FHFTHYPDVH IRSQLAARIN 

       130        140        150        160        170        180 
LPEARVQIWF QNQRAKWRKQ EKIGNLGAPQ QLSEASVALP TNLDVAGPTW TSTALRRLAP 

       190        200        210        220        230        240 
PTSCCPSAQD QLASAWFPAW ITLLPAHPWE TQPVPGLPIH QTCIPVLCIL PPPHPKWGSI 


CATST 

« Hide

References

[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS33640.1.
RefSeqNP_001008494.1. NM_001008494.1.
UniGeneHs.567637.

3D structure databases

ProteinModelPortalQ2M1V0.
SMRQ2M1V0. Positions 84-141.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124838. 2 interactions.
IntActQ2M1V0. 1 interaction.
STRING9606.ENSP00000311492.

PTM databases

PhosphoSiteQ2M1V0.

Polymorphism databases

DMDM150387849.

Proteomic databases

PRIDEQ2M1V0.

Protocols and materials databases

DNASU91464.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308700; ENSP00000311492; ENSG00000175329.
ENST00000404699; ENSP00000386037; ENSG00000175329.
GeneID91464.
KEGGhsa:91464.
UCSCuc003anj.3. human.

Organism-specific databases

CTD91464.
GeneCardsGC22P035462.
HGNCHGNC:28084. ISX.
HPAHPA060328.
MIM612019. gene.
neXtProtNX_Q2M1V0.
PharmGKBPA147357909.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG252360.
HOGENOMHOG000052524.
HOVERGENHBG096596.
InParanoidQ2M1V0.
OMACCEAPKK.
OrthoDBEOG7MSMQF.
PhylomeDBQ2M1V0.
TreeFamTF315976.

Gene expression databases

BgeeQ2M1V0.
CleanExHS_ISX.
GenevestigatorQ2M1V0.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi91464.
NextBio77268.
PROQ2M1V0.
SOURCESearch...

Entry information

Entry nameISX_HUMAN
AccessionPrimary (citable) accession number: Q2M1V0
Secondary accession number(s): Q68DJ5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: July 9, 2014
This is version 76 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM