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Q9NUG4 (CCM2L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | 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:
Cerebral cavernous malformations 2 protein-like

Short name=CCM2-like
Gene names
Name:CCM2L
Synonyms:C20orf160
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length571 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the CCM2 family.

Sequence caution

The sequence AAH32455.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NUG4-1)

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: Q9NUG4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     357-571: SESCHTDGTY...GSDAAEDNYL → IMAPRTPLKH...CPSRTIAQAC
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NUG4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     215-235: RAGGGGGGSLERQRAGARASG → PTRSTRRTPAPTPTATWSSWL
     236-571: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 571571Cerebral cavernous malformations 2 protein-like
PRO_0000079476

Regions

Compositional bias217 – 2226Poly-Gly
Compositional bias252 – 26110Poly-Gly
Compositional bias273 – 2786Poly-Gly
Compositional bias547 – 5548Poly-Asp

Natural variations

Alternative sequence215 – 23521RAGGG…ARASG → PTRSTRRTPAPTPTATWSSW L in isoform 3.
VSP_007634
Alternative sequence236 – 571336Missing in isoform 3.
VSP_007635
Alternative sequence357 – 571215SESCH…EDNYL → IMAPRTPLKHVTAARPHLLS MAPTAAAATTAVWAWSSYRI TWSRCGVSWGPSRSSSLRCC CGSTGWGCPSRTIAQAC in isoform 2.
VSP_007633

Sequences

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

Last modified June 20, 2003. Version 3.
Checksum: 369302A71BD00491

FASTA57162,179
        10         20         30         40         50         60 
MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL IDPQILLCDY 

        70         80         90        100        110        120 
LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTAEQDSI LSLSARCLLL 

       130        140        150        160        170        180 
TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGVDASP GGAGRDPGPP 

       190        200        210        220        230        240 
GGAPEKRRVG TAERRHTICS LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR 

       250        260        270        280        290        300 
QTFSGSWERR HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY 

       310        320        330        340        350        360 
CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER PWLCSRSESC 

       370        380        390        400        410        420 
HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS HCSGSDHSSL GLEQLQDYMV 

       430        440        450        460        470        480 
TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY 

       490        500        510        520        530        540 
FEGFLEGVGI REGGILTDSF GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD 

       550        560        570 
IEALAPDDDD DDEDEPRGSR GGSDAAEDNY L 

« Hide

Isoform 2 [UniParc].

Checksum: C29411F6849B3BC8
Show »

FASTA43346,728
Isoform 3 [UniParc].

Checksum: A1F3EF1377553E8D
Show »

FASTA23525,908

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] (ISOFORM 3).
Tissue: Small intestine.
[2]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] (ISOFORMS 1 AND 2).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057090 mRNA. Translation: BAB71363.1.
AL031658 Genomic DNA. Translation: CAI42581.1.
BC030254 mRNA. Translation: AAH30254.1.
BC032455 mRNA. Translation: AAH32455.1. Different initiation.
CCDSCCDS13195.1. [Q9NUG4-2]
RefSeqNP_542192.2. NM_080625.3. [Q9NUG4-2]
XP_006723769.1. XM_006723706.1. [Q9NUG4-2]
UniGeneHs.382151.
Hs.638682.

3D structure databases

ProteinModelPortalQ9NUG4.
SMRQ9NUG4. Positions 62-156, 415-491.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126664. 1 interaction.
IntActQ9NUG4. 3 interactions.
STRING9606.ENSP00000262659.

PTM databases

PhosphoSiteQ9NUG4.

Polymorphism databases

DMDM32171369.

Proteomic databases

PaxDbQ9NUG4.
PRIDEQ9NUG4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262659; ENSP00000262659; ENSG00000101331. [Q9NUG4-2]
ENST00000300415; ENSP00000300415; ENSG00000101331. [Q9NUG4-1]
GeneID140706.
KEGGhsa:140706.
UCSCuc002wxf.2. human. [Q9NUG4-2]

Organism-specific databases

CTD140706.
GeneCardsGC20P030601.
HGNCHGNC:16153. CCM2L.
HPAHPA008434.
neXtProtNX_Q9NUG4.
PharmGKBPA25702.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44028.
HOGENOMHOG000231916.
HOVERGENHBG054451.
InParanoidQ9NUG4.
OMARRHTICG.
OrthoDBEOG7SFHXM.
PhylomeDBQ9NUG4.
TreeFamTF328517.

Gene expression databases

ArrayExpressQ9NUG4.
BgeeQ9NUG4.
CleanExHS_C20orf160.
GenevestigatorQ9NUG4.

Family and domain databases

InterProIPR026159. Malcavernin.
[Graphical view]
PANTHERPTHR21642. PTHR21642. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi140706.
NextBio84275.

Entry information

Entry nameCCM2L_HUMAN
AccessionPrimary (citable) accession number: Q9NUG4
Secondary accession number(s): Q5JYR9 expand/collapse secondary AC list , Q8N5F1, Q8N6G8, Q96MD5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: June 20, 2003
Last modified: July 9, 2014
This is version 93 of the entry and version 3 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 chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM