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ERC1 ELKS/RAB6-interacting/CAST family member 1 [ Homo sapiens (human) ]

Gene ID: 23085, updated on 12-Aug-2018

Summary

Official Symbol
ERC1provided by HGNC
Official Full Name
ELKS/RAB6-interacting/CAST family member 1provided by HGNC
Primary source
HGNC:HGNC:17072
See related
Ensembl:ENSG00000082805 MIM:607127
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELKS; Cast2; ERC-1; RAB6IP2
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 to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in thyroid (RPKM 7.0), esophagus (RPKM 6.1) and 25 other tissues See more
Orthologs

Genomic context

See ERC1 in Genome Data Viewer
Location:
12p13.33
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (990030..1495933)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1100404..1605099)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929432 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene RAD52 homolog, DNA repair protein Neighboring gene 5-hydroxytryptamine receptor 1D pseudogene 1 Neighboring gene uncharacterized LOC107987182 Neighboring gene collagen alpha-1(I) chain-like Neighboring gene long intergenic non-protein coding RNA 942 Neighboring gene Wnt family member 5B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31750, KIAA1081, MGC12974

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Rab GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
cadherin binding HDA PubMed 
leucine zipper domain binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
I-kappaB phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
retrograde transport, endosome to Golgi ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
IkappaB kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
presynaptic membrane TAS
Traceable Author Statement
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ELKS/Rab6-interacting/CAST family member 1
Names
RAB6 interacting protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001301248.1NP_001288177.1  ELKS/Rab6-interacting/CAST family member 1 isoform zeta

    Status: REVIEWED

    Description
    Transcript Variant: This variant (zeta) contains an additional exon that results in an alternate 3' coding region and 3' UTR, compared to variant epsilon. The encoded isoform (zeta) has a distinct C-terminus and is shorter than isoform epsilon. The 5' UTR of this variant is incomplete due to lack of full-length transcript support and splice site ambiguity in the 5'-most exon.
    Source sequence(s)
    AC004671, AC004803, BC144287, BM984956
    Consensus CDS
    CCDS76504.1
    UniProtKB/TrEMBL
    G8JLD3
    Related
    ENSP00000347621.5, ENST00000355446.9
    Conserved Domains (3) summary
    pfam10174
    Location:155982
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:767832
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:918989
    ATP-synt_B; ATP synthase B/B' CF(0)
  2. NM_178039.3NP_829883.1  ELKS/Rab6-interacting/CAST family member 1 isoform delta

    See identical proteins and their annotated locations for NP_829883.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (delta) lacks an alternate in-frame exon in the central coding region, compared to variant epsilon, resulting in a shorter isoform (delta), compared to isoform epsilon.
    Source sequence(s)
    AB053470, AC004671, AC004803, BM984956, DR000847
    Consensus CDS
    CCDS53732.1
    UniProtKB/Swiss-Prot
    Q8IUD2
    Related
    ENSP00000438546.1, ENST00000543086.7
    Conserved Domains (4) summary
    pfam09457
    Location:10401080
    RBD-FIP; FIP domain
    pfam10174
    Location:155954
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:739804
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:890961
    ATP-synt_B; ATP synthase B/B' CF(0)
  3. NM_178040.3NP_829884.1  ELKS/Rab6-interacting/CAST family member 1 isoform epsilon

    See identical proteins and their annotated locations for NP_829884.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (epsilon) encodes the longest isoform (epsilon).
    Source sequence(s)
    AB053471, AC004671, AC004672, AC004803, BM984956, DR000847
    Consensus CDS
    CCDS8508.1
    UniProtKB/Swiss-Prot
    Q8IUD2
    Related
    ENSP00000354158.3, ENST00000360905.8
    Conserved Domains (4) summary
    pfam09457
    Location:10681108
    RBD-FIP; FIP domain
    pfam10174
    Location:155982
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:767832
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:918989
    ATP-synt_B; ATP synthase B/B' CF(0)

RNA

  1. NR_027946.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) uses an alternate splice site in the 5' terminal exon, lacks two internal exons, and contains two additional exons, compared to variant epsilon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant epsilon, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB015617, AC004671, AC004803, BM984956, DR000847
  2. NR_027948.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (beta) uses an alternate splice site in the 5' terminal exon, lacks one internal exon, and contains two additional exons, compared to variant epsilon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant epsilon, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB053468, AC004671, AC004803, BM984956, DR000847
  3. NR_027949.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (gamma) lacks five internal exons and contains two additional exons, compared to variant epsilon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant epsilon, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB053469, AC004671, AC004803, BM984956, DR000847

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    990030..1495933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019055.2XP_016874544.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  2. XM_017019054.1XP_016874543.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  3. XM_017019052.1XP_016874541.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  4. XM_017019068.1XP_016874557.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/TrEMBL
    G8JLD3
    Conserved Domains (3) summary
    pfam10174
    Location:155982
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:767832
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:918989
    ATP-synt_B; ATP synthase B/B' CF(0)
  5. XM_017019064.1XP_016874553.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/Swiss-Prot
    Q8IUD2
    Conserved Domains (4) summary
    pfam09457
    Location:10681108
    RBD-FIP; FIP domain
    pfam10174
    Location:155982
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:767832
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:918989
    ATP-synt_B; ATP synthase B/B' CF(0)
  6. XM_017019067.1XP_016874556.1  ELKS/Rab6-interacting/CAST family member 1 isoform X11

    UniProtKB/Swiss-Prot
    Q8IUD2
    Conserved Domains (4) summary
    pfam09457
    Location:10401080
    RBD-FIP; FIP domain
    pfam10174
    Location:155954
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:739804
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:890961
    ATP-synt_B; ATP synthase B/B' CF(0)
  7. XM_017019061.1XP_016874550.1  ELKS/Rab6-interacting/CAST family member 1 isoform X5

    Conserved Domains (3) summary
    pfam09457
    Location:10751115
    RBD-FIP; FIP domain
    pfam10174
    Location:155989
    Cast; RIM-binding protein of the cytomatrix active zone
    cl21478
    Location:925996
    ATP-synt_B; ATP synthase B/B' CF(0)
  8. XM_017019063.1XP_016874552.1  ELKS/Rab6-interacting/CAST family member 1 isoform X7

    Conserved Domains (4) summary
    pfam09457
    Location:10711111
    RBD-FIP; FIP domain
    pfam10174
    Location:155985
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:770835
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:921992
    ATP-synt_B; ATP synthase B/B' CF(0)
  9. XM_017019062.1XP_016874551.1  ELKS/Rab6-interacting/CAST family member 1 isoform X6

    UniProtKB/TrEMBL
    X6RLX0
    Related
    ENSP00000442739.2, ENST00000546231.6
    Conserved Domains (3) summary
    pfam09457
    Location:10721112
    RBD-FIP; FIP domain
    pfam10174
    Location:155986
    Cast; RIM-binding protein of the cytomatrix active zone
    cl21478
    Location:922993
    ATP-synt_B; ATP synthase B/B' CF(0)
  10. XM_017019066.1XP_016874555.1  ELKS/Rab6-interacting/CAST family member 1 isoform X10

    Related
    ENSP00000410064.2, ENST00000440394.7
  11. XM_017019069.1XP_016874558.1  ELKS/Rab6-interacting/CAST family member 1 isoform X12

    Related
    ENSP00000445336.2, ENST00000542302.6
  12. XM_017019059.1XP_016874548.1  ELKS/Rab6-interacting/CAST family member 1 isoform X3

  13. XM_017019057.1XP_016874546.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

  14. XM_017019060.1XP_016874549.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

  15. XM_017019070.1XP_016874559.1  ELKS/Rab6-interacting/CAST family member 1 isoform X13

  16. XM_017019065.1XP_016874554.1  ELKS/Rab6-interacting/CAST family member 1 isoform X9

  17. XM_017019071.1XP_016874560.1  ELKS/Rab6-interacting/CAST family member 1 isoform X14

    Related
    ENSP00000340054.6, ENST00000347735.10
  18. XM_017019072.1XP_016874561.1  ELKS/Rab6-interacting/CAST family member 1 isoform X15

  19. XM_017019073.1XP_016874562.1  ELKS/Rab6-interacting/CAST family member 1 isoform X16

  20. XM_017019056.1XP_016874545.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  21. XM_011520941.2XP_011519243.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    See identical proteins and their annotated locations for XP_011519243.1

    UniProtKB/Swiss-Prot
    Q8IUD2
    Conserved Domains (4) summary
    pfam09457
    Location:10681108
    RBD-FIP; FIP domain
    pfam10174
    Location:155982
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam10211
    Location:767832
    Ax_dynein_light; Axonemal dynein light chain
    cl21478
    Location:918989
    ATP-synt_B; ATP synthase B/B' CF(0)
  22. XM_017019053.1XP_016874542.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  23. XM_017019058.1XP_016874547.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

  24. XM_017019074.1XP_016874563.1  ELKS/Rab6-interacting/CAST family member 1 isoform X17

  25. XM_017019075.1XP_016874564.1  ELKS/Rab6-interacting/CAST family member 1 isoform X18

RNA

  1. XR_001748635.1 RNA Sequence

  2. XR_001748634.1 RNA Sequence

  3. XR_001748632.1 RNA Sequence

  4. XR_001748636.1 RNA Sequence

  5. XR_001748633.1 RNA Sequence

  6. XR_001748637.1 RNA Sequence

  7. XR_001748631.2 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_013171809.1 Reference GRCh38.p12 PATCHES

    Range
    38589..100408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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