Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23085
Gene name Gene Name - the full gene name approved by the HGNC.
ELKS/RAB6-interacting/CAST family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERC1
Synonyms (NCBI Gene) Gene synonyms aliases
Cast2, ELKS, ERC-1, RAB6IP2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 12391317, 12923177, 16033967, 27224062
GO:0005737 Component Cytoplasm ISS
GO:0005737 Component Cytoplasm TAS 15218148
GO:0005813 Component Centrosome IDA 27224062
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607127 17072 ENSG00000082805
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Papillary thyroid carcinoma Papillary thyroid carcinoma rs751409106 10337992
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 32768867
Apraxias Associate 22713806
Language Disorders Associate 28440294
Neoplasms Associate 37437062
Thyroid Neoplasms Associate 32737449