UniProtKB - Q69YN2 (C19L1_HUMAN)
Protein
CWF19-like protein 1
Gene
CWF19L1
Organism
Homo sapiens (Human)
Status
Functioni
GO - Molecular functioni
- RNA lariat debranching enzyme activator activity Source: GO_Central
GO - Biological processi
- mRNA splicing, via spliceosome Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q69YN2 |
Names & Taxonomyi
Protein namesi | Recommended name: CWF19-like protein 1Short name: C19L11 Publication |
Gene namesi | Name:CWF19L1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25613, CWF19L1 |
MIMi | 616120, gene |
neXtProti | NX_Q69YN2 |
VEuPathDBi | HostDB:ENSG00000095485.16 |
Pathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17)1 Publication
The disease is caused by variants 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 OMIMKeywords - Diseasei
NeurodegenerationOrganism-specific databases
DisGeNETi | 55280 |
MalaCardsi | CWF19L1 |
MIMi | 616127, phenotype |
OpenTargetsi | ENSG00000095485 |
Orphaneti | 453521, Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
PharmGKBi | PA134864340 |
Miscellaneous databases
Pharosi | Q69YN2, Tbio |
Genetic variation databases
BioMutai | CWF19L1 |
DMDMi | 166225917 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000315641 | 1 – 538 | CWF19-like protein 1Add BLAST | 538 |
Proteomic databases
EPDi | Q69YN2 |
jPOSTi | Q69YN2 |
MassIVEi | Q69YN2 |
MaxQBi | Q69YN2 |
PaxDbi | Q69YN2 |
PeptideAtlasi | Q69YN2 |
PRIDEi | Q69YN2 |
ProteomicsDBi | 66161 [Q69YN2-1] 66162 [Q69YN2-2] 66163 [Q69YN2-3] |
PTM databases
iPTMneti | Q69YN2 |
PhosphoSitePlusi | Q69YN2 |
Expressioni
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
Bgeei | ENSG00000095485, Expressed in blood and 187 other tissues |
ExpressionAtlasi | Q69YN2, baseline and differential |
Genevisiblei | Q69YN2, HS |
Organism-specific databases
HPAi | ENSG00000095485, Low tissue specificity |
Interactioni
Binary interactionsi
Q69YN2
With | #Exp. | IntAct |
---|---|---|
CWF19L2 [Q2TBE0] | 3 | EBI-719164,EBI-5453285 |
Protein-protein interaction databases
BioGRIDi | 120568, 35 interactors |
IntActi | Q69YN2, 15 interactors |
MINTi | Q69YN2 |
STRINGi | 9606.ENSP00000326411 |
Miscellaneous databases
RNActi | Q69YN2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the CWF19 family.Curated
Phylogenomic databases
eggNOGi | KOG2476, Eukaryota |
GeneTreei | ENSGT00940000156000 |
HOGENOMi | CLU_019955_2_0_1 |
InParanoidi | Q69YN2 |
OMAi | LKPRYHL |
PhylomeDBi | Q69YN2 |
TreeFami | TF105790 |
Family and domain databases
Gene3Di | 3.30.428.10, 1 hit |
InterProi | View protein in InterPro IPR040194, Cwf19-like IPR006768, Cwf19-like_C_dom-1 IPR006767, Cwf19-like_C_dom-2 IPR036265, HIT-like_sf |
PANTHERi | PTHR12072, PTHR12072, 2 hits |
Pfami | View protein in Pfam PF04677, CwfJ_C_1, 1 hit PF04676, CwfJ_C_2, 1 hit |
SUPFAMi | SSF54197, SSF54197, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A286YF56 | A0A286YF56_HUMAN | CWF19-like protein 1 | CWF19L1 | 193 | Annotation score: | ||
A0A286YEP9 | A0A286YEP9_HUMAN | CWF19-like protein 1 | CWF19L1 | 96 | Annotation score: | ||
A0A0S2Z5Q6 | A0A0S2Z5Q6_HUMAN | CWF19-like 1 cell cycle control iso... | CWF19L1 | 72 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 63 | A → V in AAH08746 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038264 | 160 | C → Y. Corresponds to variant dbSNP:rs2270962EnsemblClinVar. | 1 | |
Natural variantiVAR_038265 | 259 | P → L. Corresponds to variant dbSNP:rs7073610EnsemblClinVar. | 1 | |
Natural variantiVAR_038266 | 523 | R → H. Corresponds to variant dbSNP:rs35490714Ensembl. | 1 | |
Natural variantiVAR_038267 | 526 | R → Q. Corresponds to variant dbSNP:rs7922946EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030586 | 1 – 296 | Missing in isoform 2. 1 PublicationAdd BLAST | 296 | |
Alternative sequenceiVSP_030587 | 1 – 137 | Missing in isoform 3. 2 PublicationsAdd BLAST | 137 | |
Alternative sequenceiVSP_030588 | 297 – 323 | KQGRK…RKPPQ → MKSREGSVHPQVEIANLLLI QSSLANL in isoform 2. 1 PublicationAdd BLAST | 27 |
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 |
CCDSi | CCDS7489.1 [Q69YN2-1] |
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
Ensembli | ENST00000354105; ENSP00000326411; ENSG00000095485 [Q69YN2-1] |
GeneIDi | 55280 |
KEGGi | hsa:55280 |
UCSCi | uc001kqq.1, human [Q69YN2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS7489.1 [Q69YN2-1] |
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] |
3D structure databases
SMRi | Q69YN2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120568, 35 interactors |
IntActi | Q69YN2, 15 interactors |
MINTi | Q69YN2 |
STRINGi | 9606.ENSP00000326411 |
PTM databases
iPTMneti | Q69YN2 |
PhosphoSitePlusi | Q69YN2 |
Genetic variation databases
BioMutai | CWF19L1 |
DMDMi | 166225917 |
Proteomic databases
EPDi | Q69YN2 |
jPOSTi | Q69YN2 |
MassIVEi | Q69YN2 |
MaxQBi | Q69YN2 |
PaxDbi | Q69YN2 |
PeptideAtlasi | Q69YN2 |
PRIDEi | Q69YN2 |
ProteomicsDBi | 66161 [Q69YN2-1] 66162 [Q69YN2-2] 66163 [Q69YN2-3] |
Protocols and materials databases
Antibodypediai | 49159, 104 antibodies |
Genome annotation databases
Ensembli | ENST00000354105; ENSP00000326411; ENSG00000095485 [Q69YN2-1] |
GeneIDi | 55280 |
KEGGi | hsa:55280 |
UCSCi | uc001kqq.1, human [Q69YN2-1] |
Organism-specific databases
CTDi | 55280 |
DisGeNETi | 55280 |
GeneCardsi | CWF19L1 |
HGNCi | HGNC:25613, CWF19L1 |
HPAi | ENSG00000095485, Low tissue specificity |
MalaCardsi | CWF19L1 |
MIMi | 616120, gene 616127, phenotype |
neXtProti | NX_Q69YN2 |
OpenTargetsi | ENSG00000095485 |
Orphaneti | 453521, Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
PharmGKBi | PA134864340 |
VEuPathDBi | HostDB:ENSG00000095485.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2476, Eukaryota |
GeneTreei | ENSGT00940000156000 |
HOGENOMi | CLU_019955_2_0_1 |
InParanoidi | Q69YN2 |
OMAi | LKPRYHL |
PhylomeDBi | Q69YN2 |
TreeFami | TF105790 |
Enzyme and pathway databases
PathwayCommonsi | Q69YN2 |
Miscellaneous databases
BioGRID-ORCSi | 55280, 52 hits in 959 CRISPR screens |
ChiTaRSi | CWF19L1, human |
GenomeRNAii | 55280 |
Pharosi | Q69YN2, Tbio |
PROi | PR:Q69YN2 |
RNActi | Q69YN2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000095485, Expressed in blood and 187 other tissues |
ExpressionAtlasi | Q69YN2, baseline and differential |
Genevisiblei | Q69YN2, HS |
Family and domain databases
Gene3Di | 3.30.428.10, 1 hit |
InterProi | View protein in InterPro IPR040194, Cwf19-like IPR006768, Cwf19-like_C_dom-1 IPR006767, Cwf19-like_C_dom-2 IPR036265, HIT-like_sf |
PANTHERi | PTHR12072, PTHR12072, 2 hits |
Pfami | View protein in Pfam PF04677, CwfJ_C_1, 1 hit PF04676, CwfJ_C_2, 1 hit |
SUPFAMi | SSF54197, SSF54197, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | C19L1_HUMAN | |
Accessioni | Q69YN2Primary (citable) accession number: Q69YN2 Secondary accession number(s): B4DHX1 Q9NV13 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | January 15, 2008 | |
Last modified: | April 7, 2021 | |
This is version 133 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families