HEATR3
HEAT repeat-containing protein 3
Also known as: FLJ20718, HEAT3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z4Q2
- Gene
- HEATR3
- Ensembl
- ENSG00000155393
- Chromosome
- 16
- Canonical length
- 680 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
680 residues, UniProt reviewed canonical sequence.
>Q7Z4Q2|HEATR3
1 MGKSRTKRFK RPQFSPTGDC QAEAAAAANG TGGEEDDGPA AELLEKLQHP SAEVRECACA
61 GLARLVQQRP ALPGLARRDA VRRLGPLLLD PSLAVRETAA GALRNLSACG GFEVCDDMVT
121 KDIMTPLVAL LKECSAGLDS NEMSLQEKKD QNRNSIENIA NETVNVLWNI CECSSRAVSI
181 FNKEGCLEIV LKYLSRFPTN VDLAISVAYC LQTVTEDNPE LLKSFSATAL NMLESALLSP
241 VSSMESLLLK TLVAGTIWNL KDIIPCKSQA EIINALLKIL SEVLGMDAGE MVIQMKEAET
301 QRLKTAAEAE EILENTNGDD LIEDDEMEGI SHKRRVRRKT FVSDLLPPTD KELRETIALL
361 TAQQTALEII VNMCCNEDPS DDEWEELSSS DESDAFMENS FSECGGQLFS PLCLSHEVHT
421 ALTNYLIPKK IFEKTAFPNS IAVDLCSRNP TWKPLIRKMN TIQCRALFCL QSLVSLLDVE
481 HLGGAAALQT LAQHLSQLLF SQPDFAKHVD FLEAISSALR ALLQTMASKN ISQCMTPDQL
541 MTLCKAGIHS SNVGVRVNVV SILGITGSVL AKEDGTLETL KNIGCFLLEV TTKDPSLVVA
601 GEALDALFDV FADGKEAERA SIQIKLLSAL KEFQPVFKMK IRKEGRGNYS TDQLCVLDNV
661 KMNLRRFIAY QETVEKRLTSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HEATR3 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
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 5.3 nTPM
Expression across tissuesHPA
Tissue
- appendix: 5.3 nTPM
- skeletal muscle: 4.9 nTPM
- lymph node: 4.3 nTPM
- tongue: 4.1 nTPM
- tonsil: 4.1 nTPM
- rectum: 3.9 nTPM
Single-cell type
- monocytes: 64 nCPM
- macrophages: 57 nCPM
- kupffer cells: 50 nCPM
- myonuclei: 43 nCPM
- cone photoreceptor cells: 41 nCPM
- brain inhibitory neurons: 39 nCPM
Immune cell
- non-classical monocyte: 0.9 nTPM
- intermediate monocyte: 0.5 nTPM
- myeloid DC: 0.4 nTPM
- classical monocyte: 0.3 nTPM
- plasmacytoid DC: 0.3 nTPM
- gdT-cell: 0.2 nTPM
Brain region
- choroid plexus: 1.8 nTPM
- cerebellum: 1.7 nTPM
- basal ganglia: 1.3 nTPM
- cerebral cortex: 1.3 nTPM
- hypothalamus: 1.3 nTPM
- amygdala: 1.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HEATR3.
Disease | AllUniProt
Conditions HEATR3 is implicated in, by any mechanism.
- Diamond-Blackfan anemia 21 (DBA21) MIM:620072
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 113 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Diamond-Blackfan anemia 21
- Diamond-Blackfan anemia 1
- Diamond-Blackfan anemia
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)
- 0.83
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.14
- DepMap mean gene effect
- -0.29
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Protein domainsUniProt · Pfam · InterPro
- Armadillo-like helical
- Armadillo-type fold
- HEAT-like repeat
- SYO1-like
- SYO1-like, TPR repeats
- SYO1-like, TPR repeats
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HEATR3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HEATR3 as an antibody target. Whether an autoantibody or antibody against HEATR3 could matter depends on whether native HEATR3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HEATR3 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 HEATR3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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