Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
90459 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Exoribonuclease 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ERI1 |
SynonymsGene synonyms aliases
|
3'HEXO, HEXO, HXAL, SEMDGC, SEMDGS, THEX1 |
ChromosomeChromosome number
|
8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
8p23.1 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1563322318 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q8IV48 |
Protein name |
3'-5' exoribonuclease 1 (EC 3.1.13.1) (3'-5' exonuclease ERI1) (Eri-1 homolog) (Histone mRNA 3'-end-specific exoribonuclease) (Histone mRNA 3'-exonuclease 1) (Protein 3'hExo) (HEXO) |
Protein function |
RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication (PubMed:14536070, PubMed:16912046, PubMed:17135487, PubMed:37352860). A 2' and 3'-hyd |
PDB |
1W0H
,
1ZBH
,
1ZBU
,
4L8R
,
4QOZ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02037 |
SAP |
76 → 110 |
SAP domain |
Family |
PF00929 |
RNase_T |
131 → 306 |
Exonuclease |
Family |
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Sequence |
|
Sequence length |
349 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Renal aplasia |
Unilateral agenesis of kidney |
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