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Q69YN2 (C19L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
CWF19-like protein 1
Gene names
Name:CWF19L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length538 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the CWF19 family.

Sequence caution

The sequence CAH72402.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functioncatalytic activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q69YN2-1)

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.
Isoform 2 (identifier: Q69YN2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-296: Missing.
     297-323: KQGRKRSSTGRDSKSSPHPKQPRKPPQ → MKSREGSVHPQVEIANLLLIQSSLANL
Note: No experimental confirmation available.
Isoform 3 (identifier: Q69YN2-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 538538CWF19-like protein 1
PRO_0000315641

Natural variations

Alternative sequence1 – 296296Missing in isoform 2.
VSP_030586
Alternative sequence1 – 137137Missing in isoform 3.
VSP_030587
Alternative sequence297 – 32327KQGRK…RKPPQ → MKSREGSVHPQVEIANLLLI QSSLANL in isoform 2.
VSP_030588
Natural variant1601C → Y.
Corresponds to variant rs2270962 [ dbSNP | Ensembl ].
VAR_038264
Natural variant2591P → L.
Corresponds to variant rs7073610 [ dbSNP | Ensembl ].
VAR_038265
Natural variant5231R → H.
Corresponds to variant rs35490714 [ dbSNP | Ensembl ].
VAR_038266
Natural variant5261R → Q.
Corresponds to variant rs7922946 [ dbSNP | Ensembl ].
VAR_038267

Experimental info

Sequence conflict631A → V in AAH08746. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 63237331F41AD6AE

FASTA53860,619
        10         20         30         40         50         60 
MAQKPLRLLA CGDVEGKFDI LFNRVQAIQK KSGNFDLLLC VGNFFGSTQD AEWEEYKTGI 

        70         80         90        100        110        120 
KKAPIQTYVL GANNQETVKY FQDADGCELA ENITYLGRKG IFTGSSGLQI VYLSGTESLN 

       130        140        150        160        170        180 
EPVPGYSFSP KDVSSLRMML CTTSQFKGVD ILLTSPWPKC VGNFGNSSGE VDTKKCGSAL 

       190        200        210        220        230        240 
VSSLATGLKP RYHFAALEKT YYERLPYRNH IILQENAQHA TRFIALANVG NPEKKKYLYA 

       250        260        270        280        290        300 
FSIVPMKLMD AAELVKQPPD VTENPYRKSG QEASIGKQIL APVEESACQF FFDLNEKQGR 

       310        320        330        340        350        360 
KRSSTGRDSK SSPHPKQPRK PPQPPGPCWF CLASPEVEKH LVVNIGTHCY LALAKGGLSD 

       370        380        390        400        410        420 
DHVLILPIGH YQSVVELSAE VVEEVEKYKA TLRRFFKSRG KWCVVFERNY KSHHLQLQVI 

       430        440        450        460        470        480 
PVPISCSTTD DIKDAFITQA QEQQIELLEI PEHSDIKQIA QPGAAYFYVE LDTGEKLFHR 

       490        500        510        520        530 
IKKNFPLQFG REVLASEAIL NVPDKSDWRQ CQISKEDEET LARRFRKDFE PYDFTLDD 

« Hide

Isoform 2 [UniParc].

Checksum: 4DC2814A6DBF191E
Show »

FASTA24227,694
Isoform 3 [UniParc].

Checksum: C75C41C6FDBD8F44
Show »

FASTA40145,537

References

[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS7489.1. [Q69YN2-1]
RefSeqNP_060764.3. NM_018294.4. [Q69YN2-1]
UniGeneHs.215502.

3D structure databases

ProteinModelPortalQ69YN2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120568. 3 interactions.
IntActQ69YN2. 1 interaction.
MINTMINT-3053442.
STRING9606.ENSP00000326411.

PTM databases

PhosphoSiteQ69YN2.

Polymorphism databases

DMDM166225917.

Proteomic databases

MaxQBQ69YN2.
PaxDbQ69YN2.
PeptideAtlasQ69YN2.
PRIDEQ69YN2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354105; ENSP00000326411; ENSG00000095485. [Q69YN2-1]
GeneID55280.
KEGGhsa:55280.
UCSCuc001kqq.1. human. [Q69YN2-1]
uc001kqt.1. human. [Q69YN2-2]

Organism-specific databases

CTD55280.
GeneCardsGC10M101982.
HGNCHGNC:25613. CWF19L1.
HPAHPA036889.
HPA036890.
neXtProtNX_Q69YN2.
PharmGKBPA134864340.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG244783.
HOVERGENHBG098124.
InParanoidQ69YN2.
OMATLKPRYH.
OrthoDBEOG71CFKR.
PhylomeDBQ69YN2.
TreeFamTF105790.

Gene expression databases

ArrayExpressQ69YN2.
BgeeQ69YN2.
CleanExHS_CWF19L1.
GenevestigatorQ69YN2.

Family and domain databases

Gene3D3.60.21.10. 1 hit.
InterProIPR006768. Cwf19-like_C_dom-1.
IPR006767. Cwf19-like_C_dom-2.
IPR011146. HIT-like.
IPR029052. Metallo-depent_PP-like.
[Graphical view]
PfamPF04677. CwfJ_C_1. 1 hit.
PF04676. CwfJ_C_2. 1 hit.
[Graphical view]
SUPFAMSSF54197. SSF54197. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi55280.
NextBio59426.
PROQ69YN2.

Entry information

Entry nameC19L1_HUMAN
AccessionPrimary (citable) accession number: Q69YN2
Secondary accession number(s): B4DHX1 expand/collapse secondary AC list , D3DR66, Q5W0I3, Q96HC3, Q9H865, Q9NV13
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 83 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM