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Protein

CWF19-like protein 1

Gene

CWF19L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
CWF19-like protein 1
Short name:
C19L11 Publication
Gene namesi
Name:CWF19L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000095485.16
HGNCiHGNC:25613 CWF19L1
MIMi616120 gene
neXtProtiNX_Q69YN2

Pathology & Biotechi

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 descriptionSpinocerebellar ataxia defines 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.
See also OMIM:616127

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi55280
MalaCardsiCWF19L1
MIMi616127 phenotype
OpenTargetsiENSG00000095485
PharmGKBiPA134864340

Polymorphism and mutation databases

BioMutaiCWF19L1
DMDMi166225917

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003156411 – 538CWF19-like protein 1Add BLAST538

Proteomic databases

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

PTM databases

iPTMnetiQ69YN2
PhosphoSitePlusiQ69YN2

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

BgeeiENSG00000095485
CleanExiHS_CWF19L1
ExpressionAtlasiQ69YN2 baseline and differential
GenevisibleiQ69YN2 HS

Organism-specific databases

HPAiHPA036889
HPA036890

Interactioni

Protein-protein interaction databases

BioGridi120568, 22 interactors
IntActiQ69YN2, 4 interactors
MINTiQ69YN2
STRINGi9606.ENSP00000326411

Structurei

3D structure databases

ProteinModelPortaliQ69YN2
SMRiQ69YN2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CWF19 family.Curated

Phylogenomic databases

eggNOGiKOG2476 Eukaryota
ENOG410XNRG LUCA
GeneTreeiENSGT00530000063414
HOVERGENiHBG098124
InParanoidiQ69YN2
OMAiLPYRNHV
OrthoDBiEOG091G04X7
PhylomeDBiQ69YN2
TreeFamiTF105790

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Note: No experimental confirmation available.
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

Sequence cautioni

The sequence CAH72402 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti63A → V in AAH08746 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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 Translation: CAH72402.1 Sequence problems.
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]
UniGeneiHs.215502

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiC19L1_HUMAN
AccessioniPrimary (citable) accession number: Q69YN2
Secondary accession number(s): B4DHX1
, D3DR66, Q5W0I3, Q96HC3, Q9H865, Q9NV13
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: June 20, 2018
This is version 114 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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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