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

Gene ID: 23085, updated on 4-Dec-2022

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; AllianceGenome:HGNC:17072
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
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Try the new Transcript table

Genomic context

See ERC1 in Genome Data Viewer
Location:
12p13.33
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (989959..1495933)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (987116..1490194)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1100389..1605099)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene uncharacterized LOC124902855 Neighboring gene RAD52 homolog, DNA repair protein Neighboring gene uncharacterized LOC124902857 Neighboring gene 5-hydroxytryptamine receptor 1D pseudogene 1 Neighboring gene uncharacterized LOC124902854 Neighboring gene uncharacterized LOC107987182 Neighboring gene uncharacterized LOC124902856 Neighboring gene uncharacterized LOC107984507 Neighboring gene long intergenic non-protein coding RNA 942

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

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
enables PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables cadherin binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables structural constituent of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in I-kappaB phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in maintenance of presynaptic active zone structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde transport, endosome to Golgi ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
part_of IkappaB kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in presynaptic membrane TAS
Traceable Author Statement
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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_178039.4NP_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_178040.4NP_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, Q9UPS1
    Related
    ENSP00000354158.3, ENST00000360905.9
    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_027946.3 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_027948.3 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_027949.3 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    989959..1495933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428566.1XP_047284522.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/Swiss-Prot
    Q9UPS1
  2. XM_047428562.1XP_047284518.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

  3. XM_017019055.3XP_016874544.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  4. XM_047428563.1XP_047284519.1  ELKS/Rab6-interacting/CAST family member 1 isoform X7

  5. XM_047428558.1XP_047284514.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

  6. XM_047428570.1XP_047284526.1  ELKS/Rab6-interacting/CAST family member 1 isoform X9

  7. XM_047428576.1XP_047284532.1  ELKS/Rab6-interacting/CAST family member 1 isoform X12

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

  9. XM_047428557.1XP_047284513.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

  10. XM_047428561.1XP_047284517.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

  11. XM_047428565.1XP_047284521.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/Swiss-Prot
    Q9UPS1
  12. XM_047428568.1XP_047284524.1  ELKS/Rab6-interacting/CAST family member 1 isoform X9

  13. XM_047428572.1XP_047284528.1  ELKS/Rab6-interacting/CAST family member 1 isoform X10

  14. XM_047428574.1XP_047284530.1  ELKS/Rab6-interacting/CAST family member 1 isoform X12

  15. XM_047428579.1XP_047284535.1  ELKS/Rab6-interacting/CAST family member 1 isoform X15

  16. XM_017019052.2XP_016874541.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  17. XM_017019061.2XP_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)
  18. XM_017019069.2XP_016874558.1  ELKS/Rab6-interacting/CAST family member 1 isoform X13

  19. XM_017019059.2XP_016874548.1  ELKS/Rab6-interacting/CAST family member 1 isoform X3

  20. XM_017019063.2XP_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)
  21. XM_017019057.2XP_016874546.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

  22. XM_017019062.2XP_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)
  23. XM_017019060.2XP_016874549.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

    Conserved Domains (1) summary
    COG1196
    Location:261986
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  24. XM_017019064.2XP_016874553.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/Swiss-Prot
    Q8IUD2, Q9UPS1
    Related
    ENSP00000380386.4, ENST00000397203.7
    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)
  25. XM_017019070.2XP_016874559.1  ELKS/Rab6-interacting/CAST family member 1 isoform X14

  26. XM_017019065.2XP_016874554.1  ELKS/Rab6-interacting/CAST family member 1 isoform X9

  27. XM_017019066.2XP_016874555.1  ELKS/Rab6-interacting/CAST family member 1 isoform X11

    Related
    ENSP00000410064.2, ENST00000440394.7
  28. XM_047428571.1XP_047284527.1  ELKS/Rab6-interacting/CAST family member 1 isoform X10

  29. XM_017019067.2XP_016874556.1  ELKS/Rab6-interacting/CAST family member 1 isoform X12

    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)
  30. XM_047428578.1XP_047284534.1  ELKS/Rab6-interacting/CAST family member 1 isoform X15

  31. XM_017019072.2XP_016874561.1  ELKS/Rab6-interacting/CAST family member 1 isoform X16

  32. XM_047428580.1XP_047284536.1  ELKS/Rab6-interacting/CAST family member 1 isoform X17

  33. XM_047428583.1XP_047284539.1  ELKS/Rab6-interacting/CAST family member 1 isoform X20

  34. XM_047428581.1XP_047284537.1  ELKS/Rab6-interacting/CAST family member 1 isoform X18

  35. XM_047428584.1XP_047284540.1  ELKS/Rab6-interacting/CAST family member 1 isoform X21

    UniProtKB/TrEMBL
    X6RM00
    Related
    ENSP00000445336.2, ENST00000542302.6
  36. XM_047428582.1XP_047284538.1  ELKS/Rab6-interacting/CAST family member 1 isoform X19

  37. XM_017019056.2XP_016874545.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

  38. XM_047428559.1XP_047284515.1  ELKS/Rab6-interacting/CAST family member 1 isoform X3

  39. XM_047428564.1XP_047284520.1  ELKS/Rab6-interacting/CAST family member 1 isoform X7

  40. XM_047428556.1XP_047284512.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

  41. XM_047428560.1XP_047284516.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

  42. XM_047428567.1XP_047284523.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/Swiss-Prot
    Q9UPS1
    Related
    ENSP00000468263.1, ENST00000589028.6
  43. XM_047428577.1XP_047284533.1  ELKS/Rab6-interacting/CAST family member 1 isoform X14

  44. XM_047428569.1XP_047284525.1  ELKS/Rab6-interacting/CAST family member 1 isoform X9

  45. XM_047428573.1XP_047284529.1  ELKS/Rab6-interacting/CAST family member 1 isoform X10

  46. XM_047428575.1XP_047284531.1  ELKS/Rab6-interacting/CAST family member 1 isoform X12

  47. XM_017019074.2XP_016874563.1  ELKS/Rab6-interacting/CAST family member 1 isoform X22

RNA

  1. XR_001748631.3 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_013171809.1 Reference GRCh38.p14 PATCHES

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    987116..1490194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)