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CARMIL1 capping protein regulator and myosin 1 linker 1 [ Homo sapiens (human) ]

Gene ID: 55604, updated on 4-Dec-2022

Summary

Official Symbol
CARMIL1provided by HGNC
Official Full Name
capping protein regulator and myosin 1 linker 1provided by HGNC
Primary source
HGNC:HGNC:21581
See related
Ensembl:ENSG00000079691 MIM:609593; AllianceGenome:HGNC:21581
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
CARMIL; LRRC16; LRRC16A; CARMIL1a; dJ501N12.1; dJ501N12.5
Summary
Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 7.4), small intestine (RPKM 6.3) and 24 other tissues See more
Orthologs
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Genomic context

See CARMIL1 in Genome Data Viewer
Location:
6p22.2
Exon count:
41
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (25279374..25620530)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (25145130..25486328)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25279602..25620758)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928663 Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 5 Neighboring gene ribosomal protein L21 pseudogene 68 Neighboring gene uncharacterized LOC124901281 Neighboring gene RNA, U6 small nuclear 987, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124901284 Neighboring gene PRELID1 pseudogene 2 Neighboring gene secretagogin, EF-hand calcium binding protein

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
EBI GWAS Catalog
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of leucine rich repeat containing 16A (LRRC16A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20048, FLJ43708

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament network formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in actin filament organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in barbed-end actin filament uncapping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in macropinocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of barbed-end actin filament capping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of lamellipodium organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading 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
PubMed 
involved_in regulation of actin cytoskeleton reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ruffle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
part_of filamentous actin ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in macropinosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
F-actin-uncapping protein LRRC16A
Names
CARMIL homolog
capping protein regulator and myosin 1 linker protein 1
capping protein, Arp2/3 and myosin-I linker homolog 1
capping protein, Arp2/3 and myosin-I linker protein 1
capping protein, Arp2/3, and Myosin-I Linker homolog 1
leucine rich repeat containing 16
leucine rich repeat containing 16A
leucine-rich repeat-containing protein 16A
testicular tissue protein Li 107

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_001173977.2NP_001167448.1  F-actin-uncapping protein LRRC16A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal 6-aa segment near the C-terminus, compared to isoform 1.
    Source sequence(s)
    AL022170, AL024509, AL160037
    Consensus CDS
    CCDS93871.1
    Related
    ENSP00000515137.1, ENST00000700669.1
    Conserved Domains (4) summary
    cd00116
    Location:229373
    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:484507
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:248277
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7861078
    CARMIL_C; CARMIL C-terminus
  2. NM_017640.6NP_060110.4  F-actin-uncapping protein LRRC16A isoform 1

    See identical proteins and their annotated locations for NP_060110.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL022170, AL024509, AL160037
    Consensus CDS
    CCDS54973.1
    UniProtKB/Swiss-Prot
    Q5VZK9, Q9NXU7
    Related
    ENSP00000331983.6, ENST00000329474.7
    Conserved Domains (4) summary
    cd00116
    Location:229373
    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:484507
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:248277
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7861078
    CARMIL_C; CARMIL C-terminus

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    25279374..25620530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011008.2XP_016866497.1  F-actin-uncapping protein LRRC16A isoform X1

  2. XM_017011009.2XP_016866498.1  F-actin-uncapping protein LRRC16A isoform X2

  3. XM_017011015.2XP_016866504.1  F-actin-uncapping protein LRRC16A isoform X12

  4. XM_017011012.2XP_016866501.1  F-actin-uncapping protein LRRC16A isoform X5

  5. XM_024446484.2XP_024302252.1  F-actin-uncapping protein LRRC16A isoform X6

    Conserved Domains (5) summary
    sd00033
    Location:488511
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:248277
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7901088
    CARMIL_C; CARMIL C-terminus
    cl26161
    Location:229373
    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 ...
    cl28033
    Location:10991348
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  6. XM_024446485.2XP_024302253.1  F-actin-uncapping protein LRRC16A isoform X14

    Conserved Domains (5) summary
    sd00033
    Location:488511
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:248277
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7901088
    CARMIL_C; CARMIL C-terminus
    cl26161
    Location:229373
    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 ...
    cl28033
    Location:10991345
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  7. XM_017011011.2XP_016866500.1  F-actin-uncapping protein LRRC16A isoform X4

  8. XM_017011016.2XP_016866505.1  F-actin-uncapping protein LRRC16A isoform X13

  9. XM_017011013.2XP_016866502.1  F-actin-uncapping protein LRRC16A isoform X9

  10. XM_047418997.1XP_047274953.1  F-actin-uncapping protein LRRC16A isoform X15

  11. XM_017011010.2XP_016866499.1  F-actin-uncapping protein LRRC16A isoform X3

  12. XM_005249218.2XP_005249275.1  F-actin-uncapping protein LRRC16A isoform X7

    Conserved Domains (4) summary
    cd00116
    Location:229373
    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:484507
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:248277
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7861078
    CARMIL_C; CARMIL C-terminus
  13. XM_047418994.1XP_047274950.1  F-actin-uncapping protein LRRC16A isoform X8

  14. XM_047418995.1XP_047274951.1  F-actin-uncapping protein LRRC16A isoform X10

  15. XM_047418996.1XP_047274952.1  F-actin-uncapping protein LRRC16A isoform X11

  16. XM_047418998.1XP_047274954.1  F-actin-uncapping protein LRRC16A isoform X16

  17. XM_047418999.1XP_047274955.1  F-actin-uncapping protein LRRC16A isoform X17

  18. XM_017011017.2XP_016866506.1  F-actin-uncapping protein LRRC16A isoform X18

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    25145130..25486328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)