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

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: human all
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Genomic context

Location:: 6; 6 F1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109	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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELKS1 controls mast cell degranulation by regulating the transcription of Stxbp2 and Syntaxin 4 via Kdm2b stabilization.
Title: ELKS1 controls mast cell degranulation by regulating the transcription of Stxbp2 and Syntaxin 4 via Kdm2b stabilization.
ELKS1 Captures Rab6-Marked Vesicular Cargo in Presynaptic Nerve Terminals.
Title: ELKS1 Captures Rab6-Marked Vesicular Cargo in Presynaptic Nerve Terminals.
Double deletion of the active zone proteins CAST/ELKS in the mouse forebrain causes high mortality of newborn pups.
Title: Double deletion of the active zone proteins CAST/ELKS in the mouse forebrain causes high mortality of newborn pups.
The ERC1 scaffold protein implicated in cell motility drives the assembly of a liquid phase.
Title: The ERC1 scaffold protein implicated in cell motility drives the assembly of a liquid phase.
ELKS and voltage-dependent Ca(2+) channel form a potent insulin secretion complex at the vascular side of the beta cell plasma membrane for polarized Ca(2+) influx.
Title: ELKS/Voltage-Dependent Ca(2+) Channel-β Subunit Module Regulates Polarized Ca(2+) Influx in Pancreatic β Cells.
These data identify distinct roles for CAST/ELKS as positive regulators of CaV2.1 channel density.
Title: CAST/ELKS Proteins Control Voltage-Gated Ca(2+) Channel Density and Synaptic Release Probability at a Mammalian Central Synapse.
These results suggest that CAST and ELKS work in concert to promote retinal synapse formation, transmission, and maintenance.
Title: Cytomatrix proteins CAST and ELKS regulate retinal photoreceptor development and maintenance.
Several studies had established that ELKS is a redundant scaffold at the active zone, and that disruption of this scaffold impairs fusion of synaptic vesicles. In non-neuronal cells, scaffolding and exocytotic functions of ELKS seem to be important for constitutive secretion of other cargo. [review]
Title: ELKS active zone proteins as multitasking scaffolds for secretion.
SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome.
Title: SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
Our results reveal that ELKS is required for normal Ca(2+) influx at nerve terminals of inhibitory hippocampal neurons.
Title: The active zone protein family ELKS supports Ca2+ influx at nerve terminals of inhibitory hippocampal neurons.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (8) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235538

AW121159 (e-PCR)
- UniSTS:208022

Homology

Orthologs from Annotation Pipeline: 327 organisms have orthologs with human gene Erc1
Orthologs

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	PubMed
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	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	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	PubMed
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	PubMed
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

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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)

NM_053204.2 → NP_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/TrEMBL

F8VPM7

Related

ENSMUSP00000139031.2, ENSMUST00000183703.8

Conserved Domains (2) summary

pfam09457
Location:1072 → 1112

RBD-FIP; FIP domain

pfam10174
Location:155 → 986

Cast; RIM-binding protein of the cytomatrix active zone
NM_178085.3 → NP_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

UniProtKB/TrEMBL

A0A8C6IMX0

Related

ENSMUSP00000078534.4, ENSMUST00000079582.5

Conserved Domains (1) summary

pfam14941
Location:286 → 359

OAF; Transcriptional regulator, Out at first

RNA

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
NR_155458.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC125102, AC128662, AC161060

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

119547757..119830985 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_006505436.1

Related

ENSMUSP00000139152.2, ENSMUST00000185139.8

Conserved Domains (2) summary

pfam09457
Location:1044 → 1084

RBD-FIP; FIP domain

pfam10174
Location:155 → 958

Cast; RIM-binding protein of the cytomatrix active zone
XM_006505378.5 → XP_006505441.1 ELKS/Rab6-interacting/CAST family member 1 isoform X8

Conserved Domains (2) summary

pfam09457
Location:848 → 888

RBD-FIP; FIP domain

pfam10174
Location:1 → 762

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255109.2 → XP_030110969.1 ELKS/Rab6-interacting/CAST family member 1 isoform X7

Conserved Domains (2) summary

pfam09457
Location:996 → 1036

RBD-FIP; FIP domain

pfam10174
Location:155 → 910

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255105.2 → XP_030110965.1 ELKS/Rab6-interacting/CAST family member 1 isoform X3

Conserved Domains (2) summary

pfam09457
Location:1044 → 1084

RBD-FIP; FIP domain

pfam10174
Location:155 → 958

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255108.2 → XP_030110968.1 ELKS/Rab6-interacting/CAST family member 1 isoform X6

Conserved Domains (2) summary

pfam09457
Location:1024 → 1064

RBD-FIP; FIP domain

pfam10174
Location:155 → 938

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255107.2 → XP_030110967.1 ELKS/Rab6-interacting/CAST family member 1 isoform X5

Conserved Domains (2) summary

pfam09457
Location:1028 → 1068

RBD-FIP; FIP domain

pfam10174
Location:155 → 942

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255110.1 → XP_030110970.1 ELKS/Rab6-interacting/CAST family member 1 isoform X9

Conserved Domains (2) summary

pfam09457
Location:820 → 860

RBD-FIP; FIP domain

pfam10174
Location:1 → 734

Cast; RIM-binding protein of the cytomatrix active zone
XM_036165751.1 → XP_036021644.1 ELKS/Rab6-interacting/CAST family member 1 isoform X4

UniProtKB/TrEMBL

V9GXF0

Related

ENSMUSP00000139118.2, ENSMUST00000183911.8

Conserved Domains (2) summary

pfam09457
Location:1040 → 1080

RBD-FIP; FIP domain

pfam10174
Location:155 → 954

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255106.2 → XP_030110966.1 ELKS/Rab6-interacting/CAST family member 1 isoform X4

UniProtKB/TrEMBL

V9GXF0

Conserved Domains (2) summary

pfam09457
Location:1040 → 1080

RBD-FIP; FIP domain

pfam10174
Location:155 → 954

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255104.2 → XP_030110964.1 ELKS/Rab6-interacting/CAST family member 1 isoform X2

UniProtKB/TrEMBL

V9GXP8

Related

ENSMUSP00000139256.2, ENSMUST00000184864.8

Conserved Domains (2) summary

pfam09457
Location:1068 → 1108

RBD-FIP; FIP domain

pfam10174
Location:155 → 982

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255102.2 → XP_030110962.1 ELKS/Rab6-interacting/CAST family member 1 isoform X1

UniProtKB/TrEMBL

F8VPM7

Conserved Domains (2) summary

pfam09457
Location:1072 → 1112

RBD-FIP; FIP domain

pfam10174
Location:155 → 986

Cast; RIM-binding protein of the cytomatrix active zone
XM_006505370.5 → XP_006505433.1 ELKS/Rab6-interacting/CAST family member 1 isoform X1

See identical proteins and their annotated locations for XP_006505433.1

UniProtKB/TrEMBL

F8VPM7

Related

ENSMUSP00000138823.2, ENSMUST00000183880.8

Conserved Domains (2) summary

pfam09457
Location:1072 → 1112

RBD-FIP; FIP domain

pfam10174
Location:155 → 986

Cast; RIM-binding protein of the cytomatrix active zone
XM_030255101.2 → XP_030110961.1 ELKS/Rab6-interacting/CAST family member 1 isoform X1

UniProtKB/TrEMBL

F8VPM7

Related

ENSMUSP00000139030.2, ENSMUST00000184838.8

Conserved Domains (2) summary

pfam09457
Location:1072 → 1112

RBD-FIP; FIP domain

pfam10174
Location:155 → 986

Cast; RIM-binding protein of the cytomatrix active zone
XM_006505371.5 → XP_006505434.1 ELKS/Rab6-interacting/CAST family member 1 isoform X1

See identical proteins and their annotated locations for XP_006505434.1

UniProtKB/TrEMBL

F8VPM7

Conserved Domains (2) summary

pfam09457
Location:1072 → 1112

RBD-FIP; FIP domain

pfam10174
Location:155 → 986

Cast; RIM-binding protein of the cytomatrix active zone