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UniProtKB - Q69YN2 (C19L1_HUMAN)

Entry version 129 (12 Aug 2020)
Sequence version 2 (15 Jan 2008)
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Protein

CWF19-like protein 1

Gene

CWF19L1

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

Annotation score:3 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

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q69YN2

<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%5Fand%5Ftaxonomy%5Fsection">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:
CWF19-like protein 1
Short name:
C19L11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CWF19L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000095485.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:25613, CWF19L1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616120, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q69YN2

<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>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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation has been reported that affects an intronic splice donor site and causes exon 9 skipping, this leads to an out-of-frame stop codon after 60 aberrant amino acids. Patients carrying this mutation exhibit much lower mRNA and protein levels compared to unaffected controls, probably due to mRNA nonsense-mediated decay (PubMed:25361784).1 Publication
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability.
Related information in OMIM

<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 - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		55280

MalaCards human disease database

More...MalaCardsi		CWF19L1
MIMi616127, phenotype

Open Targets

More...OpenTargetsi		ENSG00000095485

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		453521, Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134864340

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q69YN2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CWF19L1

Domain mapping of disease mutations (DMDM)

More...DMDMi		166225917

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003156411 – 538CWF19-like protein 1Add BLAST538

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q69YN2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q69YN2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q69YN2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q69YN2

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

More...PaxDbi		Q69YN2

PeptideAtlas

More...PeptideAtlasi		Q69YN2

PRoteomics IDEntifications database

More...PRIDEi		Q69YN2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66161 [Q69YN2-1]
66162 [Q69YN2-2]
66163 [Q69YN2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q69YN2

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

More...PhosphoSitePlusi		Q69YN2

<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 many brain regions, including cerebellum, thalamus and occipital, parietal and temporal lobes (at protein level). Also expressed in the spinal cord (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000095485, Expressed in blood and 187 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q69YN2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q69YN2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000095485, Low tissue specificity

<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%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120568, 30 interactors

Protein interaction database and analysis system

More...IntActi		Q69YN2, 15 interactors

Molecular INTeraction database

More...MINTi		Q69YN2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000326411

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q69YN2, protein

<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

3D structure databases

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

More...SMRi		Q69YN2

Database of comparative protein structure models

More...ModBasei		Search...

<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

<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 CWF19 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2476, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156000

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_019955_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q69YN2

Identification of Orthologs from Complete Genome Data

More...OMAi		LKPRYHL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q69YN2

TreeFam database of animal gene trees

More...TreeFami		TF105790

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.428.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR040194, Cwf19-like
IPR006768, Cwf19-like_C_dom-1
IPR006767, Cwf19-like_C_dom-2
IPR036265, HIT-like_sf

The PANTHER Classification System

More...PANTHERi		PTHR12072, PTHR12072, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04677, CwfJ_C_1, 1 hit
PF04676, CwfJ_C_2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54197, SSF54197, 1 hit

<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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q69YN2-1) [UniParc]FASTAAdd to basket

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
MAQKPLRLLA CGDVEGKFDI LFNRVQAIQK KSGNFDLLLC VGNFFGSTQD 
        60         70         80         90        100
AEWEEYKTGI KKAPIQTYVL GANNQETVKY FQDADGCELA ENITYLGRKG 
       110        120        130        140        150
IFTGSSGLQI VYLSGTESLN EPVPGYSFSP KDVSSLRMML CTTSQFKGVD 
       160        170        180        190        200
ILLTSPWPKC VGNFGNSSGE VDTKKCGSAL VSSLATGLKP RYHFAALEKT 
       210        220        230        240        250
YYERLPYRNH IILQENAQHA TRFIALANVG NPEKKKYLYA FSIVPMKLMD 
       260        270        280        290        300
AAELVKQPPD VTENPYRKSG QEASIGKQIL APVEESACQF FFDLNEKQGR 
       310        320        330        340        350
KRSSTGRDSK SSPHPKQPRK PPQPPGPCWF CLASPEVEKH LVVNIGTHCY 
       360        370        380        390        400
LALAKGGLSD DHVLILPIGH YQSVVELSAE VVEEVEKYKA TLRRFFKSRG 
       410        420        430        440        450
KWCVVFERNY KSHHLQLQVI PVPISCSTTD DIKDAFITQA QEQQIELLEI 
       460        470        480        490        500
PEHSDIKQIA QPGAAYFYVE LDTGEKLFHR IKKNFPLQFG REVLASEAIL 
       510        520        530 
NVPDKSDWRQ CQISKEDEET LARRFRKDFE PYDFTLDD
Length:538
Mass (Da):60,619
Last modified:January 15, 2008 - v2
<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:i63237331F41AD6AE
GO
Isoform 2 (identifier: Q69YN2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-296: Missing.
     297-323: KQGRKRSSTGRDSKSSPHPKQPRKPPQ → MKSREGSVHPQVEIANLLLIQSSLANL

Show »
Length:242
Mass (Da):27,694
Checksum:i4DC2814A6DBF191E
GO
Isoform 3 (identifier: Q69YN2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-137: Missing.

Show »
Length:401
Mass (Da):45,537
Checksum:iC75C41C6FDBD8F44
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A286YF56A0A286YF56_HUMAN
CWF19-like protein 1
CWF19L1
193Annotation 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>
A0A286YEP9A0A286YEP9_HUMAN
CWF19-like protein 1
CWF19L1
96Annotation 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>
A0A0S2Z5Q6A0A0S2Z5Q6_HUMAN
CWF19-like 1 cell cycle control iso...
CWF19L1
72Annotation 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>

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 conflicti63A → V in AAH08746 (PubMed:15489334).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_038264160C → Y. Corresponds to variant dbSNP:rs2270962EnsemblClinVar.1
Natural variantiVAR_038265259P → L. Corresponds to variant dbSNP:rs7073610EnsemblClinVar.1
Natural variantiVAR_038266523R → H. Corresponds to variant dbSNP:rs35490714Ensembl.1
Natural variantiVAR_038267526R → Q. Corresponds to variant dbSNP:rs7922946Ensembl.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_0305861 – 296Missing in isoform 2. 1 PublicationAdd BLAST296
Alternative sequenceiVSP_0305871 – 137Missing in isoform 3. 2 PublicationsAdd BLAST137
Alternative sequenceiVSP_030588297 – 323KQGRK…RKPPQ → MKSREGSVHPQVEIANLLLI QSSLANL in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK001860 mRNA Translation: BAA91947.1
AK023984 mRNA Translation: BAB14754.1
AL832515 mRNA Translation: CAH10625.1
AK295303 mRNA Translation: BAG58283.1
AL138921 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49838.1
CH471066 Genomic DNA Translation: EAW49839.1
CH471066 Genomic DNA Translation: EAW49843.1
CH471066 Genomic DNA Translation: EAW49844.1
BC008746 mRNA Translation: AAH08746.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7489.1 [Q69YN2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001290333.1, NM_001303404.1
NP_001290334.1, NM_001303405.1 [Q69YN2-3]
NP_001290335.1, NM_001303406.1 [Q69YN2-3]
NP_060764.3, NM_018294.5 [Q69YN2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000354105; ENSP00000326411; ENSG00000095485 [Q69YN2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55280

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55280

UCSC genome browser

More...UCSCi		uc001kqq.1, human [Q69YN2-1]

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
AK001860 mRNA Translation: BAA91947.1
AK023984 mRNA Translation: BAB14754.1
AL832515 mRNA Translation: CAH10625.1
AK295303 mRNA Translation: BAG58283.1
AL138921 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49838.1
CH471066 Genomic DNA Translation: EAW49839.1
CH471066 Genomic DNA Translation: EAW49843.1
CH471066 Genomic DNA Translation: EAW49844.1
BC008746 mRNA Translation: AAH08746.1
CCDSiCCDS7489.1 [Q69YN2-1]
RefSeqiNP_001290333.1, NM_001303404.1
NP_001290334.1, NM_001303405.1 [Q69YN2-3]
NP_001290335.1, NM_001303406.1 [Q69YN2-3]
NP_060764.3, NM_018294.5 [Q69YN2-1]

3D structure databases

SMRiQ69YN2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120568, 30 interactors
IntActiQ69YN2, 15 interactors
MINTiQ69YN2
STRINGi9606.ENSP00000326411

PTM databases

iPTMnetiQ69YN2
PhosphoSitePlusiQ69YN2

Polymorphism and mutation databases

BioMutaiCWF19L1
DMDMi166225917

Proteomic databases

EPDiQ69YN2
jPOSTiQ69YN2
MassIVEiQ69YN2
MaxQBiQ69YN2
PaxDbiQ69YN2
PeptideAtlasiQ69YN2
PRIDEiQ69YN2
ProteomicsDBi66161 [Q69YN2-1]
66162 [Q69YN2-2]
66163 [Q69YN2-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49159, 100 antibodies

Genome annotation databases

EnsembliENST00000354105; ENSP00000326411; ENSG00000095485 [Q69YN2-1]
GeneIDi55280
KEGGihsa:55280
UCSCiuc001kqq.1, human [Q69YN2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55280
DisGeNETi55280
EuPathDBiHostDB:ENSG00000095485.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		CWF19L1
HGNCiHGNC:25613, CWF19L1
HPAiENSG00000095485, Low tissue specificity
MalaCardsiCWF19L1
MIMi616120, gene
616127, phenotype
neXtProtiNX_Q69YN2
OpenTargetsiENSG00000095485
Orphaneti453521, Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
PharmGKBiPA134864340

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2476, Eukaryota
GeneTreeiENSGT00940000156000
HOGENOMiCLU_019955_2_0_1
InParanoidiQ69YN2
OMAiLKPRYHL
PhylomeDBiQ69YN2
TreeFamiTF105790

Enzyme and pathway databases

PathwayCommonsiQ69YN2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55280, 47 hits in 870 CRISPR screens

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

More...ChiTaRSi		CWF19L1, human

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

More...GenomeRNAii		55280
PharosiQ69YN2, Tbio

Protein Ontology

More...PROi		PR:Q69YN2
RNActiQ69YN2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000095485, Expressed in blood and 187 other tissues
ExpressionAtlasiQ69YN2, baseline and differential
GenevisibleiQ69YN2, HS

Family and domain databases

Gene3Di3.30.428.10, 1 hit
InterProiView protein in InterPro
IPR040194, Cwf19-like
IPR006768, Cwf19-like_C_dom-1
IPR006767, Cwf19-like_C_dom-2
IPR036265, HIT-like_sf
PANTHERiPTHR12072, PTHR12072, 1 hit
PfamiView protein in Pfam
PF04677, CwfJ_C_1, 1 hit
PF04676, CwfJ_C_2, 1 hit
SUPFAMiSSF54197, SSF54197, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiC19L1_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: Q69YN2
Secondary accession number(s): B4DHX1
, D3DR66, Q5W0I3, Q96HC3, Q9H865, Q9NV13
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: August 12, 2020
This is version 129 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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