Carmil2 capping protein regulator and myosin 1 linker 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Carmil2provided by MGI
Official Full Name: capping protein regulator and myosin 1 linker 2provided by MGI
Primary source: MGI:MGI:2685431
See related: Ensembl:ENSMUSG00000050357 AllianceGenome:MGI:2685431
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: Gm585; Rltpr; CG1399-PB; D130029J02Rik
Summary: Predicted to enable phospholipid binding activity. Acts upstream of or within several processes, including T cell receptor signaling pathway; positive regulation of T cell activation; and positive regulation of cytokine production. Located in cell-cell junction; cytoplasm; and immunological synapse. Part of F-actin capping protein complex. Human ortholog(s) of this gene implicated in immunodeficiency 58. Orthologous to human CARMIL2 (capping protein regulator and myosin 1 linker 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in thymus adult (RPKM 117.5), spleen adult (RPKM 27.1) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.04 cM

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (106412642..106424827)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (105686010..105698195)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

the scaffolding role of RLTPR predominates during CD28 co-stimulation and underpins the similar function of RLTPR in human and mouse T cells.
Title: The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.
Rltpr is needed to convey CD28 signaling by recruiting PKC and Carma1 to the immunological synapse.
Title: The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament network formation	ISO Inferred from Sequence Orthology more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of cell polarity	ISO Inferred from Sequence Orthology more info
involved_in establishment or maintenance of monopolar cell polarity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of barbed-end actin filament capping	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of extracellular matrix disassembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of interleukin-2 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lamellipodium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lamellipodium organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of regulatory T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ruffle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Arp2/3 complex-mediated actin nucleation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing, spreading of cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of F-actin capping protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cell leading edge	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
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
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in macropinosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: capping protein, Arp2/3 and myosin-I linker protein 2

Names: F-actin-uncapping protein RLTPR; RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing; RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein; leucine-rich repeat-containing protein 16C

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_001357333.1 → NP_001344262.1 capping protein, Arp2/3 and myosin-I linker protein 2

Status: VALIDATED

Source sequence(s)

BE988965, HF678090

Consensus CDS

CCDS90452.1

UniProtKB/Swiss-Prot

Q3V3V9

UniProtKB/TrEMBL

S0DHL8

Related

ENSMUSP00000148422.2, ENSMUST00000213019.2

Conserved Domains (4) summary

sd00033
Location:459 → 484

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:221 → 245

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:781 → 1071

CARMIL_C; CARMIL C-terminus

cl26161
Location:278 → 643

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

106412642..106424827

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017312742.2 → XP_017168231.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X7

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:461 → 486

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:223 → 247

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:783 → 1072

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 119

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:280 → 645

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_017312741.3 → XP_017168230.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X4

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:461 → 486

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:223 → 247

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:783 → 1072

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 119

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:280 → 645

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_017312740.2 → XP_017168229.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X3

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:450 → 475

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:212 → 236

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:772 → 1061

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 116

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:269 → 634

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_017312739.2 → XP_017168228.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X2

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:461 → 486

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:223 → 247

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:783 → 1072

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 119

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:280 → 645

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_011248358.3 → XP_011246660.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X5

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:461 → 486

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:223 → 247

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:783 → 1072

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 119

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:280 → 645

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_006530898.4 → XP_006530961.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X6

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:459 → 484

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:221 → 245

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:781 → 1070

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 119

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:278 → 643

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_006530899.5 → XP_006530962.1 capping protein, Arp2/3 and myosin-I linker protein 2 isoform X1

UniProtKB/Swiss-Prot

Q3V3V9

Conserved Domains (5) summary

sd00033
Location:459 → 484

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:221 → 245

LRR_AMN1; leucine-rich repeat [structural motif]

pfam16000
Location:781 → 1070

CARMIL_C; CARMIL C-terminus

pfam17888
Location:41 → 119

Carm_PH; Carmil pleckstrin homology domain

cl39015
Location:278 → 643

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001033320.2: Suppressed sequence

Description

NM_001033320.2: This RefSeq was removed because currently there is insufficient support for the transcript and protein.