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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-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

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
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:25613. CWF19L1.

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).

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

MIMi616127. phenotype.
PharmGKBiPA134864340.

Polymorphism and mutation databases

BioMutaiCWF19L1.
DMDMi166225917.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 538538CWF19-like protein 1PRO_0000315641Add
BLAST

Proteomic databases

MaxQBiQ69YN2.
PaxDbiQ69YN2.
PeptideAtlasiQ69YN2.
PRIDEiQ69YN2.

PTM databases

PhosphoSiteiQ69YN2.

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

BgeeiQ69YN2.
CleanExiHS_CWF19L1.
ExpressionAtlasiQ69YN2. baseline and differential.
GenevisibleiQ69YN2. HS.

Organism-specific databases

HPAiHPA036889.
HPA036890.

Interactioni

Protein-protein interaction databases

BioGridi120568. 6 interactions.
IntActiQ69YN2. 1 interaction.
MINTiMINT-3053442.
STRINGi9606.ENSP00000326411.

Structurei

3D structure databases

ProteinModelPortaliQ69YN2.
SMRiQ69YN2. Positions 12-238.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CWF19 family.Curated

Phylogenomic databases

eggNOGiNOG244783.
GeneTreeiENSGT00530000063414.
HOVERGENiHBG098124.
InParanoidiQ69YN2.
OMAiKPRYHFC.
OrthoDBiEOG71CFKR.
PhylomeDBiQ69YN2.
TreeFamiTF105790.

Family and domain databases

Gene3Di3.60.21.10. 1 hit.
InterProiIPR006768. Cwf19-like_C_dom-1.
IPR006767. Cwf19-like_C_dom-2.
IPR011146. HIT-like.
IPR029052. Metallo-depent_PP-like.
[Graphical view]
PfamiPF04677. CwfJ_C_1. 1 hit.
PF04676. CwfJ_C_2. 1 hit.
[Graphical view]
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 CAH72402.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti63 – 631A → V in AAH08746 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601C → Y.
Corresponds to variant rs2270962 [ dbSNP | Ensembl ].
VAR_038264
Natural varianti259 – 2591P → L.
Corresponds to variant rs7073610 [ dbSNP | Ensembl ].
VAR_038265
Natural varianti523 – 5231R → H.
Corresponds to variant rs35490714 [ dbSNP | Ensembl ].
VAR_038266
Natural varianti526 – 5261R → Q.
Corresponds to variant rs7922946 [ dbSNP | Ensembl ].
VAR_038267

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 296296Missing in isoform 2. 1 PublicationVSP_030586Add
BLAST
Alternative sequencei1 – 137137Missing in isoform 3. 2 PublicationsVSP_030587Add
BLAST
Alternative sequencei297 – 32327KQGRK…RKPPQ → MKSREGSVHPQVEIANLLLI QSSLANL in isoform 2. 1 PublicationVSP_030588Add
BLAST

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.
GeneIDi55280.
KEGGihsa:55280.
UCSCiuc001kqq.1. human. [Q69YN2-1]
uc001kqt.1. human. [Q69YN2-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 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.

3D structure databases

ProteinModelPortaliQ69YN2.
SMRiQ69YN2. Positions 12-238.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120568. 6 interactions.
IntActiQ69YN2. 1 interaction.
MINTiMINT-3053442.
STRINGi9606.ENSP00000326411.

PTM databases

PhosphoSiteiQ69YN2.

Polymorphism and mutation databases

BioMutaiCWF19L1.
DMDMi166225917.

Proteomic databases

MaxQBiQ69YN2.
PaxDbiQ69YN2.
PeptideAtlasiQ69YN2.
PRIDEiQ69YN2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354105; ENSP00000326411; ENSG00000095485.
GeneIDi55280.
KEGGihsa:55280.
UCSCiuc001kqq.1. human. [Q69YN2-1]
uc001kqt.1. human. [Q69YN2-2]

Organism-specific databases

CTDi55280.
GeneCardsiGC10M101982.
HGNCiHGNC:25613. CWF19L1.
HPAiHPA036889.
HPA036890.
MIMi616120. gene.
616127. phenotype.
neXtProtiNX_Q69YN2.
PharmGKBiPA134864340.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG244783.
GeneTreeiENSGT00530000063414.
HOVERGENiHBG098124.
InParanoidiQ69YN2.
OMAiKPRYHFC.
OrthoDBiEOG71CFKR.
PhylomeDBiQ69YN2.
TreeFamiTF105790.

Miscellaneous databases

ChiTaRSiCWF19L1. human.
GenomeRNAii55280.
NextBioi59426.
PROiQ69YN2.
SOURCEiSearch...

Gene expression databases

BgeeiQ69YN2.
CleanExiHS_CWF19L1.
ExpressionAtlasiQ69YN2. baseline and differential.
GenevisibleiQ69YN2. HS.

Family and domain databases

Gene3Di3.60.21.10. 1 hit.
InterProiIPR006768. Cwf19-like_C_dom-1.
IPR006767. Cwf19-like_C_dom-2.
IPR011146. HIT-like.
IPR029052. Metallo-depent_PP-like.
[Graphical view]
PfamiPF04677. CwfJ_C_1. 1 hit.
PF04676. CwfJ_C_2. 1 hit.
[Graphical view]
SUPFAMiSSF54197. SSF54197. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
    Tissue: Caudate nucleus, Placenta and Retinoblastoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Melanoma.
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Skin.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome."
    Burns R., Majczenko K., Xu J., Peng W., Yapici Z., Dowling J.J., Li J.Z., Burmeister M.
    Neurology 83:2175-2182(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCAR17, TISSUE SPECIFICITY.

Entry informationi

Entry nameiC19L1_HUMAN
AccessioniPrimary (citable) accession number: Q69YN2
Secondary accession number(s): B4DHX1
, D3DR66, Q5W0I3, Q96HC3, Q9H865, Q9NV13
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 22, 2015
This is version 92 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.