CARL3_HUMAN
ID CARL3_HUMAN Reviewed; 1372 AA.
AC Q8ND23; Q8TEF7; Q96HS9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Capping protein, Arp2/3 and myosin-I linker protein 3 {ECO:0000303|PubMed:19846667};
DE AltName: Full=Capping protein regulator and myosin 1 linker protein 3;
DE AltName: Full=Leucine-rich repeat-containing protein 16B;
GN Name=CARMIL3 {ECO:0000312|HGNC:HGNC:20272}; Synonyms=C14orf121, LRRC16B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Spleen;
RX PubMed=12693554; DOI=10.1093/dnares/10.1.49;
RA Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N.,
RA Ohara O.;
RT "Characterization of long cDNA clones from human adult spleen. II. The
RT complete sequences of 81 cDNA clones.";
RL DNA Res. 10:49-57(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1133-1372.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION.
RX PubMed=19846667; DOI=10.1091/mbc.e08-10-1071;
RA Liang Y., Niederstrasser H., Edwards M., Jackson C.E., Cooper J.A.;
RT "Distinct roles for CARMIL isoforms in cell migration.";
RL Mol. Biol. Cell 20:5290-5305(2009).
RN [6]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=21102520; DOI=10.1038/onc.2010.451;
RA Hsu C.C., Chiang C.W., Cheng H.C., Chang W.T., Chou C.Y., Tsai H.W.,
RA Lee C.T., Wu Z.H., Lee T.Y., Chao A., Chow N.H., Ho C.L.;
RT "Identifying LRRC16B as an oncofetal gene with transforming enhancing
RT capability using a combined bioinformatics and experimental approach.";
RL Oncogene 30:654-667(2011).
RN [7]
RP SUBCELLULAR LOCATION, AND DOMAIN.
RX PubMed=26578515; DOI=10.1074/jbc.m115.676882;
RA Lanier M.H., McConnell P., Cooper J.A.;
RT "Cell migration and invadopodia formation require a membrane-binding domain
RT of CARMIL2.";
RL J. Biol. Chem. 291:1076-1091(2016).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21102520}. Cell
CC membrane {ECO:0000269|PubMed:26578515}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8ND23-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8ND23-2; Sequence=VSP_032305, VSP_032309;
CC Name=3;
CC IsoId=Q8ND23-3; Sequence=VSP_032306, VSP_032307, VSP_032308;
CC -!- TISSUE SPECIFICITY: Widely expressed, with much higher levels in fetal
CC tissues than in adult ones. Up-regulated in certain cancer tissues.
CC {ECO:0000269|PubMed:21102520}.
CC -!- DOMAIN: The C-terminus is necessary for localization to the cell
CC membrane (PubMed:26578515). {ECO:0000269|PubMed:21102520}.
CC -!- SIMILARITY: Belongs to the CARMIL family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB84993.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK074167; BAB84993.1; ALT_INIT; mRNA.
DR EMBL; AL834197; CAD38886.1; -; mRNA.
DR EMBL; AL136295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008134; AAH08134.2; -; mRNA.
DR CCDS; CCDS32054.1; -. [Q8ND23-1]
DR RefSeq; NP_612369.3; NM_138360.3. [Q8ND23-1]
DR AlphaFoldDB; Q8ND23; -.
DR SMR; Q8ND23; -.
DR BioGRID; 124752; 2.
DR IntAct; Q8ND23; 1.
DR MINT; Q8ND23; -.
DR STRING; 9606.ENSP00000340467; -.
DR iPTMnet; Q8ND23; -.
DR PhosphoSitePlus; Q8ND23; -.
DR BioMuta; CARMIL3; -.
DR DMDM; 172045774; -.
DR EPD; Q8ND23; -.
DR MassIVE; Q8ND23; -.
DR PaxDb; Q8ND23; -.
DR PeptideAtlas; Q8ND23; -.
DR PRIDE; Q8ND23; -.
DR Antibodypedia; 22575; 40 antibodies from 12 providers.
DR Ensembl; ENST00000342740.6; ENSP00000340467.5; ENSG00000186648.15. [Q8ND23-1]
DR Ensembl; ENST00000646442.2; ENSP00000493710.1; ENSG00000284765.2. [Q8ND23-1]
DR GeneID; 90668; -.
DR KEGG; hsa:90668; -.
DR MANE-Select; ENST00000342740.6; ENSP00000340467.5; NM_138360.4; NP_612369.3.
DR UCSC; uc001wlj.3; human. [Q8ND23-1]
DR CTD; 90668; -.
DR DisGeNET; 90668; -.
DR GeneCards; CARMIL3; -.
DR HGNC; HGNC:20272; CARMIL3.
DR HPA; ENSG00000186648; Group enriched (brain, pituitary gland, skin, testis).
DR MIM; 614716; gene.
DR neXtProt; NX_Q8ND23; -.
DR OpenTargets; ENSG00000186648; -.
DR PharmGKB; PA162394445; -.
DR VEuPathDB; HostDB:ENSG00000186648; -.
DR eggNOG; KOG4242; Eukaryota.
DR GeneTree; ENSGT00940000157990; -.
DR HOGENOM; CLU_003119_3_2_1; -.
DR InParanoid; Q8ND23; -.
DR OMA; NHEHEET; -.
DR OrthoDB; 208951at2759; -.
DR PhylomeDB; Q8ND23; -.
DR TreeFam; TF316381; -.
DR PathwayCommons; Q8ND23; -.
DR SignaLink; Q8ND23; -.
DR BioGRID-ORCS; 90668; 10 hits in 1063 CRISPR screens.
DR GenomeRNAi; 90668; -.
DR Pharos; Q8ND23; Tdark.
DR PRO; PR:Q8ND23; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8ND23; protein.
DR Bgee; ENSG00000186648; Expressed in right hemisphere of cerebellum and 92 other tissues.
DR Genevisible; Q8ND23; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0030027; C:lamellipodium; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0016477; P:cell migration; IBA:GO_Central.
DR GO; GO:2000249; P:regulation of actin cytoskeleton reorganization; IBA:GO_Central.
DR GO; GO:0034315; P:regulation of Arp2/3 complex-mediated actin nucleation; IBA:GO_Central.
DR Gene3D; 2.30.29.30; -; 1.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR029766; CARMIL3.
DR InterPro; IPR031943; CARMIL_C.
DR InterPro; IPR041245; CARMIL_PH.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR011993; PH-like_dom_sf.
DR PANTHER; PTHR24112:SF43; PTHR24112:SF43; 1.
DR Pfam; PF17888; Carm_PH; 1.
DR Pfam; PF16000; CARMIL_C; 1.
DR Pfam; PF13516; LRR_6; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Cytoplasm; Leucine-rich repeat;
KW Membrane; Reference proteome; Repeat.
FT CHAIN 1..1372
FT /note="Capping protein, Arp2/3 and myosin-I linker protein
FT 3"
FT /id="PRO_0000324608"
FT REPEAT 244..264
FT /note="LRR 1"
FT REPEAT 274..295
FT /note="LRR 2"
FT REPEAT 303..323
FT /note="LRR 3"
FT REPEAT 335..357
FT /note="LRR 4"
FT REPEAT 365..385
FT /note="LRR 5"
FT REPEAT 392..413
FT /note="LRR 6"
FT REPEAT 424..444
FT /note="LRR 7"
FT REPEAT 455..475
FT /note="LRR 8"
FT REPEAT 482..501
FT /note="LRR 9"
FT REPEAT 509..530
FT /note="LRR 10"
FT REGION 126..151
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 865..900
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 970..1003
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1024..1372
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1040..1073
FT /note="Necessary for localization at the cell membrane"
FT /evidence="ECO:0000269|PubMed:26578515"
FT COMPBIAS 134..151
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 882..897
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 980..994
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1075..1100
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1273..1287
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1344..1363
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..904
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_032305"
FT VAR_SEQ 1..580
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_032306"
FT VAR_SEQ 731..753
FT /note="LFPSLYELGHVLANDGPVRQRLE -> VSPPQATLPLKSGEPKKADHAKP
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_032307"
FT VAR_SEQ 754..1372
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_032308"
FT VAR_SEQ 1133..1175
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_032309"
FT VARIANT 1022
FT /note="L -> M (in dbSNP:rs10146906)"
FT /id="VAR_039845"
FT CONFLICT 1062
FT /note="R -> W (in Ref. 2; CAD38886)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1372 AA; 150230 MW; 005B21A69E88ADAB CRC64;
MAKPSVELTR ELQDSIRRCL SQGAVLQQHH VKLETKPKKF EDRVLALTSW RLHLFLLKVP
AKVESSFNVL EIRAFNTLSQ NQILVETERG MVSMRLPSAE SVDQVTRHVS SALSKVCPGP
GCLIRRGNAD TPEGPRDTSP NSETSTSTTH SVCGGFSETY AALCDYNGLH CREEVQWDVD
TIYHAEDNRE FNLLDFSHLE SRDLALMVAA LAYNQWFTKL YCKDLRLGSE VLEQVLHTLS
KSGSLEELVL DNAGLKTDFV QKLAGVFGEN GSCVLHALTL SHNPIEDKGF LSLSQQLLCF
PSGLTKLCLA KTAISPRGLQ ALGQTFGANP AFASSLRYLD LSKNPGLLAT DEANALYSFL
AQPNALVHLD LSGTDCVIDL LLGALLHGCC SHLTYLNLAR NSCSHRKGRE APPAFKQFFS
SAYTLSHVNL SATKLPLEAL RALLQGLSLN SHLSDLHLDL SSCELRSAGA QALQEQLGAV
TCVGSLDLSD NGFDSDLLTL VPALGKNKSL KHLFLGKNFN VKAKTLEEIL HKLVQLIQEE
DCSLQSLSVA DSRLKLRTSI LINALGSNTC LAKVDLSGNG MEDIGAKMLS KALQINSSLR
TILWDRNNTS ALGFLDIARA LESNHTLRFM SFPVSDISQA YRSAPERTED VWQKIQWCLV
RNNHSQTCPQ EQAFRLQQGL VTSSAEQMLQ RLCGRVQEEV RALRLCPLEP VQDELLYARD
LIKDAKNSRA LFPSLYELGH VLANDGPVRQ RLESVASEVS KAVDKELQVI LESMVSLTQE
LCPVAMRVAE GHNKMLSNVA ERVTVPRNFI RGALLEQAGQ DIQNKLDEVK LSVVTYLTSS
IVDEILQELY HSHKSLARHL TQLRTLSDPP GCPGQGQDLS SRGRGRNHDH EETTDDELGT
NIDTMAIKKQ KRCRKIRPVS AFISGSPQDM ESQLGNLGIP PGWFSGLGGS QPTASGSWEG
LSELPTHGYK LRHQTQGRPR PPRTTPPGPG RPSMPAPGTR QENGMATRLD EGLEDFFSRR
VLEESSSYPR TLRTVRPGLS EAPLPPLQKK RRRGLFHFRR PRSFKGDRGP GSPTTGLLLP
PPPPPPPTQE SPPSPDPPSL GNNSSPCWSP EEESSLLPGF GGGRGPSFRR KMGTEGSEPG
EGGPAPGTAQ QPRVHGVALP GLERAKGWSF DGKREGPGPD QEGSTQAWQK RRSSDDAGPG
SWKPPPPPQS TKPSFSAMRR AEATWHIAEE SAPNHSCQSP SPASQDGEEE KEGTLFPERT
LPARNAKLQD PALAPWPPKP VAVPRGRQPP QEPGVREEAE AGDAAPGVNK PRLRLSSQQD
QEEPEVQGPP DPGRRTAPLK PKRTRRAQSC DKLEPDRRRP PDPTGTSEPG TD
