ISX
Intestine-specific homeobox
Also known as: ISX_HUMAN, RAXLX
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q2M1V0
- Gene
- ISX
- Ensembl
- ENSG00000175329
- Chromosome
- 22
- Canonical length
- 245 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
245 residues, UniProt reviewed canonical sequence.
>Q2M1V0|ISX
1 MCAEVGPALC RGMERNSLGC CEAPKKLSLS FSIEAILKRP ARRSDMDRPE GPGEEGPGEA
61 AASGSGLEKP PKDQPQEGRK SKRRVRTTFT TEQLHELEKI FHFTHYPDVH IRSQLAARIN
121 LPEARVQIWF QNQRAKWRKQ EKIGNLGAPQ QLSEASVALP TNLDVAGPTW TSTALRRLAP
181 PTSCCPSAQD QLASAWFPAW ITLLPAHPWE TQPVPGLPIH QTCIPVLCIL PPPHPKWGSI
241 CATSTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ISX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 35 nTPM
- colon: 26 nTPM
- small intestine: 26 nTPM
- rectum: 24 nTPM
- smooth muscle: 0.5 nTPM
- appendix: 0.4 nTPM
Single-cell type
- enterocytes: 33 nCPM
- colonocytes: 32 nCPM
- enteric stem cells: 25 nCPM
- enteric transient amplifying cells: 23 nCPM
- goblet cells: 19 nCPM
- podocytes: 15 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 0.2 nTPM
- cerebral cortex: 0.1 nTPM
- thalamus: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.66
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.43
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ISX as an antibody target. Whether an autoantibody or antibody against ISX could matter depends on whether native ISX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ISX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ISX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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