ERI1

Protein identityUniProt · HPA

UniProt accession

Q8IV48

Gene

ERI1

Ensembl

ENSG00000104626

Chromosome

8

Canonical length

349 aa

Protein class

Predicted intracellular proteins

Subcellular location

Vesicles,Microtubules

OverviewNCBI Gene

Enables 3'-5' exonuclease activity. Involved in maturation of 5.8S rRNA. Located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

349 residues, UniProt reviewed canonical sequence.

>Q8IV48|ERI1
     1  MEDPQSKEPA GEAVALALLE SPRPEGGEEP PRPSPEETQQ CKFDGQETKG SKFITSSASD
    61  FSDPVYKEIA ITNGCINRMS KEELRAKLSE FKLETRGVKD VLKKRLKNYY KKQKLMLKES
   121  NFADSYYDYI CIIDFEATCE EGNPPEFVHE IIEFPVVLLN THTLEIEDTF QQYVRPEINT
   181  QLSDFCISLT GITQDQVDRA DTFPQVLKKV IDWMKLKELG TKYKYSLLTD GSWDMSKFLN
   241  IQCQLSRLKY PPFAKKWINI RKSYGNFYKV PRSQTKLTIM LEKLGMDYDG RPHCGLDDSK
   301  NIARIAVRML QDGCELRINE KMHAGQLMSV SSSLPIEGTP PPQMPHFRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERI1 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)

0.34

Highest tissue expression

12 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERI1.

Disease | AllUniProt

Conditions ERI1 is implicated in, by any mechanism.

• Hoxha-Aliu syndrome (HXAL) MIM:620662
• Spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC) MIM:620663

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 128 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondyloepimetaphyseal dysplasia, Guo-Campeau type
• Hoxha-Aliu syndrome
• See cases
• Abnormal finger morphology
• Global developmental delay

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)

1.07

gnomAD pLI

0

gnomAD missense Z

-1.38

DepMap mean gene effect

0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
• maturation of 5.8S rRNA
• regulatory ncRNA-mediated gene silencing
• rRNA 3'-end processing

Molecular functions

• 3'-5' exonuclease activity
• 3'-5'-RNA exonuclease activity
• exoribonuclease II activity
• histone pre-mRNA stem-loop binding
• metal ion binding
• ribosome binding
• rRNA binding

Cellular components

• cytoplasm
• histone pre-mRNA 3'end processing complex
• nucleolus
• nucleus

Protein domainsUniProt · Pfam · InterPro

• SAP domain
• Ribonuclease H-like superfamily
• Ribonuclease H-like domain
• SAP domain superfamily
• Ribonuclease H superfamily
• ERI-1-like, DEDDh 3'-5' exonuclease domain
• 3'-5' Exoribonuclease
• Exonuclease
• SAP domain

KeywordsUniProt

• Cytoplasm
• Dwarfism
• Exonuclease
• Hydrolase
• Intellectual disability
• Magnesium
• Metal-binding
• Nuclease
• Nucleus
• Phosphoprotein
• RNA-binding
• RNA-mediated gene silencing
• rRNA processing