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    CARMIL3 capping protein regulator and myosin 1 linker 3 [ Homo sapiens (human) ]

    Gene ID: 90668, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CARMIL3provided by HGNC
    Official Full Name
    capping protein regulator and myosin 1 linker 3provided by HGNC
    Primary source
    HGNC:HGNC:20272
    See related
    Ensembl:ENSG00000186648 MIM:614716; AllianceGenome:HGNC:20272
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    crml-1; LRRC16B; C14orf121
    Summary
    Predicted to be involved in cell migration and regulation of Arp2/3 complex-mediated actin nucleation. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in skin (RPKM 2.9), brain (RPKM 2.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CARMIL3 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24052009..24069729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18250326..18268045)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24521218..24538938)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5614 Neighboring gene dehydrogenase/reductase 4 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5615 Neighboring gene dehydrogenase/reductase 4 like 1 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24521876-24522575 Neighboring gene uncharacterized LOC105370412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8184 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:24544925-24546124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24551461-24552375 Neighboring gene copine 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24558209-24558708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24563543-24564192 Neighboring gene neural retina leucine zipper Neighboring gene phosphoenolpyruvate carboxykinase 2, mitochondrial

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Capping Protein Regulator and Myosin 1 Linker 3 Is Required for Tumor Metastasis. Wang H, et al. Mol Cancer Res, 2020 Feb. PMID 31694931
    2. Identifying LRRC16B as an oncofetal gene with transforming enhancing capability using a combined bioinformatics and experimental approach. Hsu CC, et al. Oncogene, 2011 Feb 10. PMID 21102520
    3. Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2. Lanier MH, et al. J Biol Chem, 2016 Jan 15. PMID 26578515, Free PMC Article
    4. Distinct roles for CARMIL isoforms in cell migration. Liang Y, et al. Mol Biol Cell, 2009 Dec. PMID 19846667, Free PMC Article
    5. Bridging expressed sequence alignments through targeted cDNA sequencing. Xie H, et al. Genomics, 2004 Apr. PMID 15028280

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Capping Protein Regulator and Myosin 1 Linker 3 Is Required for Tumor Metastasis.
      Title: Capping Protein Regulator and Myosin 1 Linker 3 Is Required for Tumor Metastasis.
    2. a novel oncofetal-like gene, LRRC16B, was indentified.
      Title: Identifying LRRC16B as an oncofetal gene with transforming enhancing capability using a combined bioinformatics and experimental approach.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    capping protein, Arp2/3 and myosin-I linker protein 3
    Names
    capping protein regulator and myosin 1 linker protein 3
    leucine rich repeat containing 16B
    leucine-rich repeat-containing protein 16B

    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_138360.4 → NP_612369.3  capping protein, Arp2/3 and myosin-I linker protein 3

      See identical proteins and their annotated locations for NP_612369.3

      Status: VALIDATED

      Source sequence(s)
      AI017934, AK074167, AL136295, AL834197, BC008134, BG913168, BU102125, DA121863, DT932621
      Consensus CDS
      CCDS32054.1
      UniProtKB/Swiss-Prot
      Q8ND23, Q8TEF7, Q96HS9
      Related
      ENSP00000340467.5, ENST00000342740.6
      Conserved Domains (4) summary
      cd00116
      Location:339 → 600
      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 ...
      sd00033
      Location:275 → 303
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:245 → 273
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam16000
      Location:778 → 1063
      CARMIL_C; CARMIL C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24052009..24069729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431880.1 → XP_047287836.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X1

    2. XM_047431882.1 → XP_047287838.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X3

    3. XM_047431883.1 → XP_047287839.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X4

    4. XM_047431885.1 → XP_047287841.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X6

    5. XM_047431887.1 → XP_047287843.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X8

    6. XM_047431889.1 → XP_047287845.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X10

    7. XM_047431891.1 → XP_047287847.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X12

    8. XM_047431881.1 → XP_047287837.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X2

    9. XM_047431884.1 → XP_047287840.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X5

    10. XM_047431886.1 → XP_047287842.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X7

    11. XM_047431888.1 → XP_047287844.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X9

    12. XM_047431890.1 → XP_047287846.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X11

    13. XM_047431892.1 → XP_047287848.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X13

    14. XM_047431893.1 → XP_047287849.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X14

    15. XM_047431896.1 → XP_047287852.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X17

    16. XM_047431894.1 → XP_047287850.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X15

    17. XM_047431895.1 → XP_047287851.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X16

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      352987..370707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332354.1 → XP_054188329.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X3

    2. XM_054332357.1 → XP_054188332.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X6

    3. XM_054332361.1 → XP_054188336.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X10

    4. XM_054332363.1 → XP_054188338.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X12

    5. XM_054332358.1 → XP_054188333.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X7

    6. XM_054332362.1 → XP_054188337.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X11

    7. XM_054332365.1 → XP_054188340.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X14

    8. XM_054332352.1 → XP_054188327.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X1

    9. XM_054332355.1 → XP_054188330.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X4

    10. XM_054332359.1 → XP_054188334.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X8

    11. XM_054332353.1 → XP_054188328.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X2

    12. XM_054332356.1 → XP_054188331.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X5

    13. XM_054332360.1 → XP_054188335.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X9

    14. XM_054332364.1 → XP_054188339.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X13

    15. XM_054332368.1 → XP_054188343.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X17

    16. XM_054332366.1 → XP_054188341.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X15

    17. XM_054332367.1 → XP_054188342.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18250326..18268045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376928.1 → XP_054232903.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X3

    2. XM_054376931.1 → XP_054232906.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X6

    3. XM_054376935.1 → XP_054232910.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X10

    4. XM_054376937.1 → XP_054232912.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X12

    5. XM_054376932.1 → XP_054232907.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X7

    6. XM_054376936.1 → XP_054232911.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X11

    7. XM_054376939.1 → XP_054232914.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X14

    8. XM_054376926.1 → XP_054232901.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X1

    9. XM_054376929.1 → XP_054232904.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X4

    10. XM_054376933.1 → XP_054232908.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X8

    11. XM_054376927.1 → XP_054232902.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X2

    12. XM_054376930.1 → XP_054232905.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X5

    13. XM_054376934.1 → XP_054232909.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X9

    14. XM_054376938.1 → XP_054232913.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X13

    15. XM_054376942.1 → XP_054232917.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X17

    16. XM_054376940.1 → XP_054232915.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X15

    17. XM_054376941.1 → XP_054232916.1  capping protein, Arp2/3 and myosin-I linker protein 3 isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8ND23.2 GenPept UniProtKB/Swiss-Prot:Q8ND23

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