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Protein

Intestine-specific homeobox

Gene

ISX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein 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)DescriptionActionsGraphical viewLength
DNA bindingi82 – 141HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000175329.12.
HGNCiHGNC:28084. ISX.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi91464.
OpenTargetsiENSG00000175329.
PharmGKBiPA147357909.

Polymorphism and mutation databases

BioMutaiISX.
DMDMi150387849.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002886021 – 245Intestine-specific homeoboxAdd BLAST245

Proteomic databases

PaxDbiQ2M1V0.
PeptideAtlasiQ2M1V0.
PRIDEiQ2M1V0.

PTM databases

PhosphoSitePlusiQ2M1V0.

Expressioni

Gene expression databases

BgeeiENSG00000175329.
CleanExiHS_ISX.
GenevisibleiQ2M1V0. HS.

Organism-specific databases

HPAiHPA060328.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
POU6F2P784244EBI-6426064,EBI-12029004

Protein-protein interaction databases

BioGridi124838. 4 interactors.
IntActiQ2M1V0. 2 interactors.
STRINGi9606.ENSP00000311492.

Structurei

3D structure databases

ProteinModelPortaliQ2M1V0.
SMRiQ2M1V0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00900000140776.
HOGENOMiHOG000052524.
HOVERGENiHBG096596.
InParanoidiQ2M1V0.
OMAiCCEAPKK.
OrthoDBiEOG091G0NQL.
PhylomeDBiQ2M1V0.
TreeFamiTF315976.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
InterProiView protein in InterPro
IPR009057. Homeobox-like_sf.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03244828S → G1 PublicationCorresponds to variant dbSNP:rs361863Ensembl.1
Natural variantiVAR_03244957P → S1 PublicationCorresponds to variant dbSNP:rs362090Ensembl.1
Natural variantiVAR_03245083R → Q. Corresponds to variant dbSNP:rs8140287Ensembl.1
Natural variantiVAR_032451158A → V. Corresponds to variant dbSNP:rs7291048Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749372 mRNA. Translation: CAH18225.1.
Z83853 Genomic DNA. No translation available.
AL024494 Genomic DNA. No translation available.
BC112212 mRNA. Translation: AAI12213.1.
BC113633 mRNA. Translation: AAI13634.1.
CCDSiCCDS33640.1.
RefSeqiNP_001290437.1. NM_001303508.1.
UniGeneiHs.567637.

Genome annotation databases

EnsembliENST00000308700; ENSP00000311492; ENSG00000175329.
ENST00000404699; ENSP00000386037; ENSG00000175329.
GeneIDi91464.
KEGGihsa:91464.
UCSCiuc003anj.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiISX_HUMAN
AccessioniPrimary (citable) accession number: Q2M1V0
Secondary accession number(s): Q68DJ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: November 22, 2017
This is version 105 of the entry and version 2 of the sequence. See 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