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Erc1 ELKS/RAB6-interacting/CAST family member 1 [ Mus musculus (house mouse) ]

Gene ID: 111173, updated on 18-Apr-2024

Summary

Official Symbol
Erc1provided by MGI
Official Full Name
ELKS/RAB6-interacting/CAST family member 1provided by MGI
Primary source
MGI:MGI:2151013
See related
Ensembl:ENSMUSG00000030172 AllianceGenome:MGI:2151013
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ELKS; CAST2; Elks1; Rab6ip2; RAB6IP2A; RAB6IP2B; mKIAA1081; 4930404L01Rik; 5033405M01Rik; 9630025C19Rik; B430107L16Rik
Summary
Enables small GTPase binding activity and voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels. A structural constituent of presynaptic active zone. Involved in synaptic vesicle priming. Acts upstream of or within retrograde transport, endosome to Golgi. Located in GABA-ergic synapse; cytoplasm; and glutamatergic synapse. Is expressed in several structures, including genitourinary system; gut gland; oral epithelium; retina; and telencephalon. Orthologous to human ERC1 (ELKS/RAB6-interacting/CAST family member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 12.2), whole brain E14.5 (RPKM 10.4) and 28 other tissues See more
Orthologs
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Genomic context

Location:
6 F1; 6 56.86 cM
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (119547757..119830985, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (119570796..119848184, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene wingless-type MMTV integration site family, member 5B Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:119472087-119472240 Neighboring gene predicted gene, 30690 Neighboring gene predicted gene, 52875 Neighboring gene STARR-seq mESC enhancer starr_17152 Neighboring gene RIKEN cDNA 3110021A11 gene Neighboring gene STARR-seq mESC enhancer starr_17154 Neighboring gene family with sequence similarity 76, member A pseudogene Neighboring gene RAD52 homolog, DNA repair protein

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Gene trapped (1) 
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables structural constituent of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
 
enables structural constituent of presynaptic active zone IDA
Inferred from Direct Assay
more info
PubMed 
enables structural constituent of presynaptic active zone IEP
Inferred from Expression Pattern
more info
PubMed 
enables structural constituent of presynaptic active zone IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in I-kappaB phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in maintenance of presynaptic active zone structure IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of NF-kappaB transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of presynaptic cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of presynaptic cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within retrograde transport, endosome to Golgi IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle priming IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle priming IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
part_of IkappaB kinase complex ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 
is_active_in presynaptic active zone cytoplasmic component ISO
Inferred from Sequence Orthology
more info
 
is_active_in presynaptic cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_053204.2NP_444434.2  ELKS/Rab6-interacting/CAST family member 1 isoform 1

    See identical proteins and their annotated locations for NP_444434.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC125102, AC128662, AC161060
    Consensus CDS
    CCDS39611.1
    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    F8VPM7
    Related
    ENSMUSP00000139031.2, ENSMUST00000183703.8
    Conserved Domains (2) summary
    pfam09457
    Location:10721112
    RBD-FIP; FIP domain
    pfam10174
    Location:155986
    Cast; RIM-binding protein of the cytomatrix active zone
  2. NM_178085.3NP_835186.1  ELKS/Rab6-interacting/CAST family member 1 isoform 2

    See identical proteins and their annotated locations for NP_835186.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC125102, AK048990
    Consensus CDS
    CCDS20476.1
    UniProtKB/Swiss-Prot
    Q99MI1
    Related
    ENSMUSP00000078534.4, ENSMUST00000079582.5
    Conserved Domains (1) summary
    pfam14941
    Location:286359
    OAF; Transcriptional regulator, Out at first

RNA

  1. NR_104484.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC125102, AC128662, AC161060
  2. NR_155458.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC125102, AC128662, AC161060

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    119547757..119830985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505373.4XP_006505436.1  ELKS/Rab6-interacting/CAST family member 1 isoform X3

    See identical proteins and their annotated locations for XP_006505436.1

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    Related
    ENSMUSP00000139152.2, ENSMUST00000185139.8
    Conserved Domains (2) summary
    pfam09457
    Location:10441084
    RBD-FIP; FIP domain
    pfam10174
    Location:155958
    Cast; RIM-binding protein of the cytomatrix active zone
  2. XM_006505378.5XP_006505441.1  ELKS/Rab6-interacting/CAST family member 1 isoform X8

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    Conserved Domains (2) summary
    pfam09457
    Location:848888
    RBD-FIP; FIP domain
    pfam10174
    Location:1762
    Cast; RIM-binding protein of the cytomatrix active zone
  3. XM_030255109.2XP_030110969.1  ELKS/Rab6-interacting/CAST family member 1 isoform X7

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    Conserved Domains (2) summary
    pfam09457
    Location:9961036
    RBD-FIP; FIP domain
    pfam10174
    Location:155910
    Cast; RIM-binding protein of the cytomatrix active zone
  4. XM_030255105.2XP_030110965.1  ELKS/Rab6-interacting/CAST family member 1 isoform X3

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    Conserved Domains (2) summary
    pfam09457
    Location:10441084
    RBD-FIP; FIP domain
    pfam10174
    Location:155958
    Cast; RIM-binding protein of the cytomatrix active zone
  5. XM_030255108.2XP_030110968.1  ELKS/Rab6-interacting/CAST family member 1 isoform X6

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    Conserved Domains (2) summary
    pfam09457
    Location:10241064
    RBD-FIP; FIP domain
    pfam10174
    Location:155938
    Cast; RIM-binding protein of the cytomatrix active zone
  6. XM_030255107.2XP_030110967.1  ELKS/Rab6-interacting/CAST family member 1 isoform X5

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    Conserved Domains (2) summary
    pfam09457
    Location:10281068
    RBD-FIP; FIP domain
    pfam10174
    Location:155942
    Cast; RIM-binding protein of the cytomatrix active zone
  7. XM_030255110.1XP_030110970.1  ELKS/Rab6-interacting/CAST family member 1 isoform X9

    Conserved Domains (2) summary
    pfam09457
    Location:820860
    RBD-FIP; FIP domain
    pfam10174
    Location:1734
    Cast; RIM-binding protein of the cytomatrix active zone
  8. XM_036165751.1XP_036021644.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    V9GXF0
    Related
    ENSMUSP00000139118.2, ENSMUST00000183911.8
    Conserved Domains (2) summary
    pfam09457
    Location:10401080
    RBD-FIP; FIP domain
    pfam10174
    Location:155954
    Cast; RIM-binding protein of the cytomatrix active zone
  9. XM_030255106.2XP_030110966.1  ELKS/Rab6-interacting/CAST family member 1 isoform X4

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    V9GXF0
    Conserved Domains (2) summary
    pfam09457
    Location:10401080
    RBD-FIP; FIP domain
    pfam10174
    Location:155954
    Cast; RIM-binding protein of the cytomatrix active zone
  10. XM_030255104.2XP_030110964.1  ELKS/Rab6-interacting/CAST family member 1 isoform X2

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    V9GXP8
    Related
    ENSMUSP00000139256.2, ENSMUST00000184864.8
    Conserved Domains (2) summary
    pfam09457
    Location:10681108
    RBD-FIP; FIP domain
    pfam10174
    Location:155982
    Cast; RIM-binding protein of the cytomatrix active zone
  11. XM_030255102.2XP_030110962.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    F8VPM7
    Conserved Domains (2) summary
    pfam09457
    Location:10721112
    RBD-FIP; FIP domain
    pfam10174
    Location:155986
    Cast; RIM-binding protein of the cytomatrix active zone
  12. XM_006505370.5XP_006505433.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

    See identical proteins and their annotated locations for XP_006505433.1

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    F8VPM7
    Related
    ENSMUSP00000138823.2, ENSMUST00000183880.8
    Conserved Domains (2) summary
    pfam09457
    Location:10721112
    RBD-FIP; FIP domain
    pfam10174
    Location:155986
    Cast; RIM-binding protein of the cytomatrix active zone
  13. XM_030255101.2XP_030110961.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    F8VPM7
    Related
    ENSMUSP00000139030.2, ENSMUST00000184838.8
    Conserved Domains (2) summary
    pfam09457
    Location:10721112
    RBD-FIP; FIP domain
    pfam10174
    Location:155986
    Cast; RIM-binding protein of the cytomatrix active zone
  14. XM_006505371.5XP_006505434.1  ELKS/Rab6-interacting/CAST family member 1 isoform X1

    See identical proteins and their annotated locations for XP_006505434.1

    UniProtKB/Swiss-Prot
    Q80TK7, Q8BPL1, Q8C7Y1, Q99MI1, Q99MI2
    UniProtKB/TrEMBL
    F8VPM7
    Conserved Domains (2) summary
    pfam09457
    Location:10721112
    RBD-FIP; FIP domain
    pfam10174
    Location:155986
    Cast; RIM-binding protein of the cytomatrix active zone

RNA

  1. XR_003956155.2 RNA Sequence

  2. XR_003956154.2 RNA Sequence

  3. XR_003956153.2 RNA Sequence

  4. XR_004942911.1 RNA Sequence

  5. XR_004942910.1 RNA Sequence

  6. XR_003956152.2 RNA Sequence