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Entry version 143 (16 Oct 2019)
Sequence version 1 (07 Dec 2004)
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Protein

F-actin-uncapping protein LRRC16A

Gene

CARMIL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments (PubMed:16054028). Plays a role in lamellipodial protrusion formations and cell migration (PubMed:19846667).2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
F-actin-uncapping protein LRRC16ACurated
Alternative name(s):
CARMIL homologBy similarity
Capping protein regulator and myosin 1 linker protein 1Imported
Capping protein, Arp2/3 and myosin-I linker homolog 1By similarity
Capping protein, Arp2/3 and myosin-I linker protein 11 Publication
Leucine-rich repeat-containing protein 16AImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CARMIL11 PublicationImported
Synonyms:CARMILBy similarity, LRRC16, LRRC16A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21581 CARMIL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609593 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5VZK9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
55604

Open Targets

More...
OpenTargetsi
ENSG00000079691

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162394368

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5VZK9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CARMIL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74762279

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003258151 – 1371F-actin-uncapping protein LRRC16AAdd BLAST1371

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei122PhosphoserineCombined sources1
Modified residuei916PhosphothreonineCombined sources1
Modified residuei968PhosphoserineCombined sources1
Modified residuei1067PhosphoserineCombined sources1
Modified residuei1094PhosphoserineCombined sources1
Modified residuei1228PhosphothreonineCombined sources1
Modified residuei1280PhosphoserineCombined sources1
Modified residuei1288PhosphoserineCombined sources1
Modified residuei1291PhosphoserineCombined sources1
Modified residuei1315PhosphoserineCombined sources1
Modified residuei1324PhosphoserineCombined sources1
Modified residuei1331PhosphoserineCombined sources1
Modified residuei1360PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5VZK9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5VZK9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5VZK9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5VZK9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5VZK9

PeptideAtlas

More...
PeptideAtlasi
Q5VZK9

PRoteomics IDEntifications database

More...
PRIDEi
Q5VZK9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65702 [Q5VZK9-1]
65703 [Q5VZK9-2]
65704 [Q5VZK9-3]
65705 [Q5VZK9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5VZK9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5VZK9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in lung, placenta, small intestine, liver, thymus, colon, skeletal muscle, heart and brain. Higher expression in kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000079691 Expressed in 175 organ(s), highest expression level in oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5VZK9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5VZK9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029038
HPA029039

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:19846667).

Interacts (via C-terminus) with heterodimer capping protein (CP); this interaction uncaps barbed ends capped by CP, enhances barbed-end actin polymerization and promotes lamellipodial formation and cell migration (By similarity).

Interacts with heterodimer capping protein (CP) (PubMed:19846667).

Interacts with MYO1E (PubMed:19846667).

Interacts with TRIO (PubMed:19846667).

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120745, 23 interactors

Database of interacting proteins

More...
DIPi
DIP-56920N

Protein interaction database and analysis system

More...
IntActi
Q5VZK9, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000331983

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11371
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5VZK9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q5VZK9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati245 – 269LRR 1Add BLAST25
Repeati275 – 298LRR 2Add BLAST24
Repeati304 – 327LRR 3Add BLAST24
Repeati336 – 363LRR 4Add BLAST28
Repeati391 – 418LRR 5Add BLAST28
Repeati423 – 447LRR 6Add BLAST25
Repeati481 – 506LRR 7Add BLAST26
Repeati543 – 566LRR 8Add BLAST24
Repeati570 – 593LRR 9Add BLAST24
Repeati654 – 678LRR 10Add BLAST25
Repeati958 – 981LRR 11Add BLAST24

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni958 – 1082Inhibits capping activity of CAPZA2By similarityAdd BLAST125
Regioni1055 – 1089Necessary for localization at the cell membrane1 PublicationAdd BLAST35

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili710 – 734Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1243 – 1250Poly-Ser8

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CARMIL family.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4242 Eukaryota
ENOG410Y5JZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155112

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230565

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5VZK9

KEGG Orthology (KO)

More...
KOi
K20493

Identification of Orthologs from Complete Genome Data

More...
OMAi
IDEPWEG

Database of Orthologous Groups

More...
OrthoDBi
208951at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5VZK9

TreeFam database of animal gene trees

More...
TreeFami
TF316381

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 1 hit
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029764 CARMIL1
IPR031943 CARMIL_C
IPR041245 CARMIL_PH
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR011993 PH-like_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR24112:SF39 PTHR24112:SF39, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17888 Carm_PH, 1 hit
PF16000 CARMIL_C, 1 hit
PF13516 LRR_6, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VZK9-1) [UniParc]FASTAAdd to basket
Also known as: CARMIL1a1 Publication

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTEESSDVPR ELIESIKDVI GRKIKISVKK KVKLEVKGDK VENKVLVLTS
60 70 80 90 100
CRAFLVTARI PTKLELTFSY LEIHGVVCSK SAQMIVETEK CSISMKMASP
110 120 130 140 150
EDVSEVLAHI GTCLRKIFPG LSPVRIMKKV SMEPSERLAS LQALWDSQTV
160 170 180 190 200
AEQGPCGGFS QMYACVCDWL GFSYREEVQW DVDTIYLTQD TRELNLQDFS
210 220 230 240 250
HLDHRDLIPI IAALEYNQWF TKLSSKDLKL STDVCEQILR VVSRSNRLEE
260 270 280 290 300
LVLENAGLRT DFAQKLASAL AHNPNSGLHT INLAGNPLED RGVSSLSIQF
310 320 330 340 350
AKLPKGLKHL NLSKTSLSPK GVNSLSQSLS ANPLTASTLV HLDLSGNVLR
360 370 380 390 400
GDDLSHMYNF LAQPNAIVHL DLSNTECSLD MVCGALLRGC LQYLAVLNLS
410 420 430 440 450
RTVFSHRKGK EVPPSFKQFF SSSLALMHIN LSGTKLSPEP LKALLLGLAC
460 470 480 490 500
NHNLKGVSLD LSNCELRSGG AQVLEGCIAE IHNITSLDIS DNGLESDLST
510 520 530 540 550
LIVWLSKNRS IQHLALGKNF NNMKSKNLTP VLDNLVQMIQ DEESPLQSLS
560 570 580 590 600
LADSKLKTEV TIIINALGSN TSLTKVDISG NGMGDMGAKM LAKALQINTK
610 620 630 640 650
LRTVIWDKNN ITAQGFQDIA VAMEKNYTLR FMPIPMYDAS QALKTNPEKT
660 670 680 690 700
EDALQKIENY LLRNHETRKY LQEQAYRLQQ GIVTSTTQQM IDRICVKVQD
710 720 730 740 750
HLNSLRNCGG DAIQEDLKSA ERLMRDAKNS KTLLPNLYHV GGASWAGASG
760 770 780 790 800
LLSSPIQETL ESMAGEVTRV VDEQLKALLE SMVDAAENLC PNVMKKAHIR
810 820 830 840 850
QDLIHASTEK ISIPRTFVKN VLLEQSGIDI LNKISEVKLT VASFLSDRIV
860 870 880 890 900
DEILDALSHC HHKLADHFSR RGKTLPQQES LEIELAEEKP VKRSIITVEE
910 920 930 940 950
LTEIERLEDL DTCMMTPKSK RKSIHSRMLR PVSRAFEMEF DLDKALEEVP
960 970 980 990 1000
IHIEDPPFPS LRQEKRSSGF ISELPSEEGK KLEHFTKLRP KRNKKQQPTQ
1010 1020 1030 1040 1050
AAVCAANIVS QDGEQNGLMG RVDEGVDEFF TKKVTKMDSK KWSTRGSESH
1060 1070 1080 1090 1100
ELNEGGDEKK KRDSRKSSGF LNLIKSRSKS ERPPTILMTE EPSSPKGAVR
1110 1120 1130 1140 1150
SPPVDCPRKD TKAAEHNGNS ERIEEIKTPD SFEESQGEEI GKVERSDSKS
1160 1170 1180 1190 1200
SPQAGRRYGV QVMGSGLLAE MKAKQEKRAA CAQKKLGNDA VSQDSSSPAL
1210 1220 1230 1240 1250
SGVERSDGGG AVPKLHPGLP ENRFGLGTPE KNTKAEPKAE AGSRSRSSSS
1260 1270 1280 1290 1300
TPTSPKPLLQ SPKPSLAARP VIPQKPRTAS RPDDIPDSPS SPKVALLPPV
1310 1320 1330 1340 1350
LKKVPSDKER DGQSSPQPSP RTFSQEVSRR SWGQQAQEYQ EQKQRSSSKD
1360 1370
GHQGSKSNDS GEEAEKEFIF V
Length:1,371
Mass (Da):151,557
Last modified:December 7, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6DECD6387FD73DCE
GO
Isoform 2 (identifier: Q5VZK9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1177-1221: Missing.

Note: No experimental confirmation available.
Show »
Length:1,326
Mass (Da):147,088
Checksum:iBC4881025483CA27
GO
Isoform 3 (identifier: Q5VZK9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     486-499: SLDISDNGLESDLS → QLGTRYRNAVLRVY
     500-1371: Missing.

Note: No experimental confirmation available.
Show »
Length:499
Mass (Da):55,117
Checksum:iA77D54FABEE374C8
GO
Isoform 4 (identifier: Q5VZK9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-161: Missing.
     292-337: GVSSLSIQFA...SLSANPLTAS → ETTTKIKRQN...NYYSDFSHDG
     338-1371: Missing.

Note: No experimental confirmation available.
Show »
Length:176
Mass (Da):20,181
Checksum:i806D8D31AAC2A04A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0U1RQQ1A0A0U1RQQ1_HUMAN
F-actin-uncapping protein LRRC16A
CARMIL1
932Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RR91A0A0U1RR91_HUMAN
F-actin-uncapping protein LRRC16A
CARMIL1
196Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA90912 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti255N → D in BAC85701 (PubMed:14702039).Curated1
Sequence conflicti889K → R in BAA90912 (PubMed:14702039).Curated1
Sequence conflicti1202G → S in ACI49709 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03992377V → I. Corresponds to variant dbSNP:rs9358856Ensembl.1
Natural variantiVAR_039924545P → L. Corresponds to variant dbSNP:rs12207840Ensembl.1
Natural variantiVAR_039925639A → G. Corresponds to variant dbSNP:rs7454756Ensembl.1
Natural variantiVAR_0399261117N → S. Corresponds to variant dbSNP:rs9885914Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0324151 – 161Missing in isoform 4. 1 PublicationAdd BLAST161
Alternative sequenceiVSP_032416292 – 337GVSSL…PLTAS → ETTTKIKRQNVPTVLQTYLV VCPSDYQPCPLPLGKDNYYS DFSHDG in isoform 4. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_032417338 – 1371Missing in isoform 4. 1 PublicationAdd BLAST1034
Alternative sequenceiVSP_032418486 – 499SLDIS…ESDLS → QLGTRYRNAVLRVY in isoform 3. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_032419500 – 1371Missing in isoform 3. 1 PublicationAdd BLAST872
Alternative sequenceiVSP_0324201177 – 1221Missing in isoform 2. 1 PublicationAdd BLAST45

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
FJ009082 mRNA Translation: ACI49709.1
AK123817 mRNA Translation: BAC85701.1
AK125696 mRNA Translation: BAC86250.1
AK000055 mRNA Translation: BAA90912.1 Different initiation.
AL022170 Genomic DNA No translation available.
AL024509 Genomic DNA No translation available.
AL160037 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS54973.1 [Q5VZK9-1]

NCBI Reference Sequences

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RefSeqi
NP_060110.4, NM_017640.5 [Q5VZK9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000329474; ENSP00000331983; ENSG00000079691 [Q5VZK9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55604

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55604

UCSC genome browser

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UCSCi
uc011djw.2 human [Q5VZK9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ009082 mRNA Translation: ACI49709.1
AK123817 mRNA Translation: BAC85701.1
AK125696 mRNA Translation: BAC86250.1
AK000055 mRNA Translation: BAA90912.1 Different initiation.
AL022170 Genomic DNA No translation available.
AL024509 Genomic DNA No translation available.
AL160037 Genomic DNA No translation available.
CCDSiCCDS54973.1 [Q5VZK9-1]
RefSeqiNP_060110.4, NM_017640.5 [Q5VZK9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3LK2X-ray2.20T961-1012[»]
3LK3X-ray2.68T964-1078[»]
SMRiQ5VZK9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi120745, 23 interactors
DIPiDIP-56920N
IntActiQ5VZK9, 11 interactors
STRINGi9606.ENSP00000331983

PTM databases

iPTMnetiQ5VZK9
PhosphoSitePlusiQ5VZK9

Polymorphism and mutation databases

BioMutaiCARMIL1
DMDMi74762279

Proteomic databases

EPDiQ5VZK9
jPOSTiQ5VZK9
MassIVEiQ5VZK9
MaxQBiQ5VZK9
PaxDbiQ5VZK9
PeptideAtlasiQ5VZK9
PRIDEiQ5VZK9
ProteomicsDBi65702 [Q5VZK9-1]
65703 [Q5VZK9-2]
65704 [Q5VZK9-3]
65705 [Q5VZK9-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55604

Genome annotation databases

EnsembliENST00000329474; ENSP00000331983; ENSG00000079691 [Q5VZK9-1]
GeneIDi55604
KEGGihsa:55604
UCSCiuc011djw.2 human [Q5VZK9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55604
DisGeNETi55604

GeneCards: human genes, protein and diseases

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GeneCardsi
CARMIL1
HGNCiHGNC:21581 CARMIL1
HPAiHPA029038
HPA029039
MIMi609593 gene
neXtProtiNX_Q5VZK9
OpenTargetsiENSG00000079691
PharmGKBiPA162394368

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4242 Eukaryota
ENOG410Y5JZ LUCA
GeneTreeiENSGT00940000155112
HOGENOMiHOG000230565
InParanoidiQ5VZK9
KOiK20493
OMAiIDEPWEG
OrthoDBi208951at2759
PhylomeDBiQ5VZK9
TreeFamiTF316381

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CARMIL1 human
EvolutionaryTraceiQ5VZK9

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LRRC16A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55604
PharosiQ5VZK9

Protein Ontology

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PROi
PR:Q5VZK9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000079691 Expressed in 175 organ(s), highest expression level in oocyte
ExpressionAtlasiQ5VZK9 baseline and differential
GenevisibleiQ5VZK9 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR029764 CARMIL1
IPR031943 CARMIL_C
IPR041245 CARMIL_PH
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR011993 PH-like_dom_sf
PANTHERiPTHR24112:SF39 PTHR24112:SF39, 1 hit
PfamiView protein in Pfam
PF17888 Carm_PH, 1 hit
PF16000 CARMIL_C, 1 hit
PF13516 LRR_6, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCARL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5VZK9
Secondary accession number(s): B8X1J0
, Q6ZUH5, Q6ZW07, Q9NXU7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: December 7, 2004
Last modified: October 16, 2019
This is version 143 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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