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

Gene ID: 55604, updated on 5-Aug-2018

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; Vega:OTTHUMG00000014393
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
Expression
Broad expression in testis (RPKM 7.4), small intestine (RPKM 6.3) and 24 other tissues See more
Orthologs

Genomic context

See CARMIL1 in Genome Data Viewer
Location:
6p22.2
Exon count:
41
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (25279428..25620530)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25279656..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 uncharacterized LOC105375106 Neighboring gene ribosomal protein L21 pseudogene 68 Neighboring gene RNA, U6 small nuclear 987, pseudogene Neighboring gene PRELI domain containing 1 pseudogene 2 Neighboring gene secretagogin, EF-hand calcium binding protein Neighboring gene histone cluster 1 H2A family member a Neighboring gene solute carrier family 17 member 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin filament network formation IDA
Inferred from Direct Assay
more info
PubMed 
actin filament organization NAS
Non-traceable Author Statement
more info
PubMed 
barbed-end actin filament uncapping ISS
Inferred from Sequence or Structural Similarity
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
macropinocytosis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of barbed-end actin filament capping ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of lamellipodium organization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
ruffle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
filamentous actin ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
macropinosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
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)

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_001173977.1NP_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
    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_017640.5NP_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
    Related
    ENSP00000331983.6, OTTHUMP00000016106, ENST00000329474.6, OTTHUMT00000040045
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    25279428..25620530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

  3. XM_017011015.1XP_016866504.1  F-actin-uncapping protein LRRC16A isoform X10

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

  5. XM_024446484.1XP_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_024446485.1XP_024302253.1  F-actin-uncapping protein LRRC16A isoform X12

    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_017011011.1XP_016866500.1  F-actin-uncapping protein LRRC16A isoform X4

  8. XM_017011016.1XP_016866505.1  F-actin-uncapping protein LRRC16A isoform X11

  9. XM_017011013.1XP_016866502.1  F-actin-uncapping protein LRRC16A isoform X8

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

  11. XM_005249218.1XP_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
  12. XM_017011014.1XP_016866503.1  F-actin-uncapping protein LRRC16A isoform X9

  13. XM_017011017.1XP_016866506.1  F-actin-uncapping protein LRRC16A isoform X13

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