CWF19L1

Protein identityUniProt · HPA

UniProt accession

Q69YN2

Gene

CWF19L1

Ensembl

ENSG00000095485

Chromosome

10

Canonical length

538 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Canonical amino-acid sequenceUniProt

538 residues, UniProt reviewed canonical sequence.

>Q69YN2|CWF19L1
     1  MAQKPLRLLA CGDVEGKFDI LFNRVQAIQK KSGNFDLLLC VGNFFGSTQD AEWEEYKTGI
    61  KKAPIQTYVL GANNQETVKY FQDADGCELA ENITYLGRKG IFTGSSGLQI VYLSGTESLN
   121  EPVPGYSFSP KDVSSLRMML CTTSQFKGVD ILLTSPWPKC VGNFGNSSGE VDTKKCGSAL
   181  VSSLATGLKP RYHFAALEKT YYERLPYRNH IILQENAQHA TRFIALANVG NPEKKKYLYA
   241  FSIVPMKLMD AAELVKQPPD VTENPYRKSG QEASIGKQIL APVEESACQF FFDLNEKQGR
   301  KRSSTGRDSK SSPHPKQPRK PPQPPGPCWF CLASPEVEKH LVVNIGTHCY LALAKGGLSD
   361  DHVLILPIGH YQSVVELSAE VVEEVEKYKA TLRRFFKSRG KWCVVFERNY KSHHLQLQVI
   421  PVPISCSTTD DIKDAFITQA QEQQIELLEI PEHSDIKQIA QPGAAYFYVE LDTGEKLFHR
   481  IKKNFPLQFG REVLASEAIL NVPDKSDWRQ CQISKEDEET LARRFRKDFE PYDFTLDD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CWF19L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CWF19L1.

Disease | AllUniProt

Conditions CWF19L1 is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17) MIM:616127

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 162 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive spinocerebellar ataxia 17
• Intellectual disability
• CWF19L1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

gnomAD missense Z

1.1

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• via spliceosome
• mRNA splicing

Molecular functions

• RNA lariat debranching enzyme activator activity

Cellular components

• post-mRNA release spliceosomal complex

Protein domainsUniProt · Pfam · InterPro

• Cwf19-like protein, C-terminal domain-2
• Cwf19-like, C-terminal domain-1
• HIT-like superfamily
• Cwf19-like protein
• Protein similar to CwfJ C-terminus 2
• Protein similar to CwfJ C-terminal

KeywordsUniProt

• Neurodegeneration

InteractionsUniProt · HPA

Protein binding partners of CWF19L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAJC17