ERICH3 (glutamate rich 3)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 127254
Gene name Glutamate rich 3
Gene symbol ERICH3
Synonyms (NCBI Gene)
C1orf173
Chromosome 1
Chromosome location 1p31.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IDA 33230203
GO:0005737 Component Cytoplasm IEA
GO:0005929 Component Cilium IDA 28282151
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620866 25346 ENSG00000178965
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5RHP9
Protein name Glutamate-rich protein 3
Protein function Component of the primary cilium that controls cilium formation and length (PubMed:31712586). May function within retrograde intraflagellar transport (IFT)-associated pathways to remove signaling proteins from primary cilia (PubMed:31712586). Als
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15257 DUF4590 299 → 412 Domain of unknown function (DUF4590) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in dopaminergic and serotoninergic neurons. {ECO:0000269|PubMed:33230203}.
Sequence 
MSHSHPAGLLAAYNSLMDKHLAGYFNNTRIRRHLLRSGLITRSGRILSEKEYKLNMMKRD
HQKYIRECLAQAIFHKVLDMERYHQLEIKKKLETLARKERIQRFKGEHTRRSVENNMPIL
SPHPPVGPKSNRGHSVLVDEGHSSPLALTAPRPYTAPGNMQPPIRLQPLPSNPAVETVPK
VTSRSRSKTSLLENEALFPIGGKKAVMKFRNSIGNSQRMNSYQLPNINSYMMPIPPPLPP
TGKITRENRSETWRRRRFRPTTAPNGLEPLLTKDSRRIHKTSLHSNAAITMIYLGKNVHL
SSDNPDFRDEIKVYQQHCGGENLCVYKGKLLEKETFQFISKRHHGFPFSLTFFLNGMQVN
RLSSCCEYKHRKGSRLGGKRGYFGFVCVERSSPCYKCIIAMGLDKKPSLPKSRKEKSTEK
GEELKKAEGKVRKEREYVIPKRNEIKENKTSVSAKFSAQEIKTGLKEVVTAVEEMTSKGK
PGQEVLEDDQENTLKYEYEEDFEVDEEKQGEKSNEEGQADVQMNGIPQSPLDDKKDNLDP
EKESETSSQKAPDARDNVKDENDGCSESELEEDKQDMKTASSTSSRSHPYSSDSEDESAV
GDREAHTDSSTDESARRSSSQELSENDKPRKSHLPIEESLEIEIEDQEITKADVETKPMP
IDESFENVLKEGTEKGTQEIAEGLSEKSGKHVSAEEKEKDKSKLWEESTAQVKDKKAGLP
GLEEGGKDSLPLAYVLALGAPTMNFMVDETAAINSNKESQQLVQKTYTLEKKEAMEEDEA
PQHRDADIVQGKGEAALWGEAGAVHEAPLRAWKPTAEQPELAEEFTEKREIPPGIERGAE
GAAEAEGVRRLGEGGSDPIGQAAAKDAVGLSKDEAPEKQALMLTVLETDKAASEGEQGLE
KAVLANEAAALNLEHLHEVAALREAATSEEGEAEGGVAVSDVGESEEEASIDLEDTGPME
DTASKREDGSEEAILGGEEPAKERKEVMRTETRLSPFTGEAEASRMQVSEGSPEEGSLAK
EAFLCKEDVEGEEMVTEAEANREDDRKEILPKELDLARERRKAERPKTSLRKTDSEREEV
TRANALKDEDAFKEEQKLKAEEGETETEVRAEEETKAPPNEMGSDAENEAPVEASELSDN
PGLLGEDSLKETVVPIFEATPGFEKSLENITALRKEGGGERLSEARDTEHKDREELSSRE
NRALKEGHRQDGEGALAAPEAEPAGKVQAPEGLIPATGQAEELAAKDHDSCAGLEGRAEG
QGGVDVVLRTQEAVAEEDPIMAEKFREEAVDEDPEEEEDKECTLETEAMQDRNSEGDGDM
EGEGNTQKNEGMGGGRVVAVEVLHGGGETAETAAEEREVLAGSETAEEKTIANKASSFSD
VAEEETWHQQDELVGKTAAAGKVVVEELARSGEEVPAAEEMTVTYTTEAGVGTPGALERK
TSGLGQEQEEGSEGQEAATGSGDGRQETGAAEKFRLGLSREGERELSPESLQAMATLPVK
PDFTETREKQQHMVQGESETADVSPNNVQV
Sequence length 1530
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PREECLAMPSIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Depressive Disorder Major Associate 26903268
★★★★★
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 31770211
★★★★★
★☆☆☆☆
Found in Text Mining only