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Protein

Intestine-specific homeobox

Gene

ISX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi612019 gene
neXtProtiNX_Q2M1V0

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
ProteomicsDBi61342

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
GeneTreeiENSGT00900000140809
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: June 20, 2018
This is version 110 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

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