Gene Gene information from NCBI Gene database.
Entrez ID 23085
Gene name ELKS/RAB6-interacting/CAST family member 1
Gene symbol ERC1
Synonyms (NCBI Gene)
Cast2ELKSERC-1RAB6IP2
Chromosome 12
Chromosome location 12p13.33
Summary The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1592108170 ->C Likely-pathogenic Frameshift variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1005
miRTarBase ID miRNA Experiments Reference
MIRT005238 hsa-let-7b-5p pSILAC 18668040
MIRT017354 hsa-miR-335-5p Microarray 18185580
MIRT024998 hsa-miR-183-5p Sequencing 20371350
MIRT029212 hsa-miR-26b-5p Microarray 19088304
MIRT032135 hsa-let-7d-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0002102 Component Podosome IEA
GO:0002102 Component Podosome ISS
GO:0005515 Function Protein binding IPI 12391317, 12923177, 16033967, 22107844, 27224062
GO:0005737 Component Cytoplasm IDA 15218148
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607127 17072 ENSG00000082805
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IUD2
Protein name ELKS/Rab6-interacting/CAST family member 1 (ERC-1) (Rab6-interacting protein 2)
Protein function Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10174 Cast 154 982 RIM-binding protein of the cytomatrix active zone Coiled-coil
PF09457 RBD-FIP 1068 1108 FIP domain Motif
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested. {ECO:0000269|PubMed:12203787}.
Sequence
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQ
SLNAAYATSGPMYLSDHENVGSETPKSTMTLGRSGGRLPYGVRMTAMGSSPNIASSGVAS
DTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLS
SSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHMQMTIQALQDELRIQR
DLNQLFQQDSSSRTGEPCVAELTEENFQRLHAEHERQAKELFLLRKTLEEMELRIETQKQ
TLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSML
REEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEERE
EEMKQMEVYRSHSKFMKNKVEQLKEELSSKEAQWEELKKKAAGLQAEIGQVKQELSRKDT
ELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNK
KTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKER
VKSLQADTTNTDTALTTLEEALAEKERTIERLKEQRDRDEREKQEEIDNYKKDLKDLKEK
VSLLQGDLSEKEASLLDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKA
HEAALEARASPEMSDRIQHLEREITRYKDESSKAQAEVDRLLEILKEVENEKNDKDKKIA
ELERQVKDQNKKVANLKHKEQVEKKKSAQMLEEARRREDNLNDSSQQLQDSLRKKDDRIE
ELEEALRESVQITAEREMVLAQEESARTNAEKQVEELLMAMEKVKQELESMKAKLSSTQQ
SLAEKETHLTNLRAERRKHLEEVLEMKQEALLAAISEKDANIALLELSSSKKKTQEEVAA
LKREKDRLVQQLKQQTQNRMKL
MADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNR
SKLKLYIGHLTTLCHDRDPLILRGLTPPASYNLDDDQAAWENELQKMTRGQLQDELEKGE
RDNAELQEFANAILQQIADHCPDILEQV
VNALEESS
Sequence length 1116
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  NF-kappa B signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Macrocephaly, dysmorphic facies, and psychomotor retardation Likely pathogenic rs1592108170 RCV000991444
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32768867 Associate
★☆☆☆☆
Found in Text Mining only
Apraxia, Developmental Verbal Apraxia BEFREE 22713806
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia Pubtator 22713806 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 24613754
★☆☆☆☆
Found in Text Mining only
Complete hydatidiform mole Complete Hydatidiform Mole BEFREE 29088863
★☆☆☆☆
Found in Text Mining only
Differentiated thyroid carcinoma Thyroid Carcinoma Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Distal monosomy 12p Distal Monosomy 12p ORPHANET_DG 22713806
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Distal monosomy 12p Distal Monosomy 12p Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Language Disorders Language development disorders Pubtator 28440294 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia LHGDN 17690697
★☆☆☆☆
Found in Text Mining only