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Q9NUG4

- CCM2L_HUMAN

UniProt

Q9NUG4 - CCM2L_HUMAN

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Protein
Cerebral cavernous malformations 2 protein-like
Gene
CCM2L, C20orf160
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Cerebral cavernous malformations 2 protein-like
Short name:
CCM2-like
Gene namesi
Name:CCM2L
Synonyms:C20orf160
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16153. CCM2L.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25702.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 571571Cerebral cavernous malformations 2 protein-like
PRO_0000079476Add
BLAST

Proteomic databases

PaxDbiQ9NUG4.
PRIDEiQ9NUG4.

PTM databases

PhosphoSiteiQ9NUG4.

Expressioni

Gene expression databases

ArrayExpressiQ9NUG4.
BgeeiQ9NUG4.
CleanExiHS_C20orf160.
GenevestigatoriQ9NUG4.

Organism-specific databases

HPAiHPA008434.

Interactioni

Protein-protein interaction databases

BioGridi126664. 1 interaction.
IntActiQ9NUG4. 3 interactions.
STRINGi9606.ENSP00000262659.

Structurei

3D structure databases

ProteinModelPortaliQ9NUG4.
SMRiQ9NUG4. Positions 62-156, 415-491.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi217 – 2226Poly-Gly
Compositional biasi252 – 26110Poly-Gly
Compositional biasi273 – 2786Poly-Gly
Compositional biasi547 – 5548Poly-Asp

Sequence similaritiesi

Belongs to the CCM2 family.

Phylogenomic databases

eggNOGiNOG44028.
HOGENOMiHOG000231916.
HOVERGENiHBG054451.
InParanoidiQ9NUG4.
OMAiRRHTICG.
OrthoDBiEOG7SFHXM.
PhylomeDBiQ9NUG4.
TreeFamiTF328517.

Family and domain databases

InterProiIPR026159. Malcavernin.
[Graphical view]
PANTHERiPTHR21642. PTHR21642. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NUG4-1) [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

MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL    50
IDPQILLCDY LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP 100
LKTTAEQDSI LSLSARCLLL TWRDNEELIL RIPTHEIAAA SYLQDDALHL 150
LVLKTGLGVD PVPAGVDASP GGAGRDPGPP GGAPEKRRVG TAERRHTICS 200
LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR QTFSGSWERR 250
HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY 300
CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER 350
PWLCSRSESC HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS 400
HCSGSDHSSL GLEQLQDYMV TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY 450
CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY FEGFLEGVGI REGGILTDSF 500
GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD IEALAPDDDD 550
DDEDEPRGSR GGSDAAEDNY L 571
Length:571
Mass (Da):62,179
Last modified:June 20, 2003 - v3
Checksum:i369302A71BD00491
GO
Isoform 2 (identifier: Q9NUG4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     357-571: SESCHTDGTY...GSDAAEDNYL → IMAPRTPLKH...CPSRTIAQAC

Note: No experimental confirmation available.

Show »
Length:433
Mass (Da):46,728
Checksum:iC29411F6849B3BC8
GO
Isoform 3 (identifier: Q9NUG4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-235: RAGGGGGGSLERQRAGARASG → PTRSTRRTPAPTPTATWSSWL
     236-571: Missing.

Note: No experimental confirmation available.

Show »
Length:235
Mass (Da):25,908
Checksum:iA1F3EF1377553E8D
GO

Sequence cautioni

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei215 – 23521RAGGG…ARASG → PTRSTRRTPAPTPTATWSSW L in isoform 3.
VSP_007634Add
BLAST
Alternative sequencei236 – 571336Missing in isoform 3.
VSP_007635Add
BLAST
Alternative sequencei357 – 571215SESCH…EDNYL → IMAPRTPLKHVTAARPHLLS MAPTAAAATTAVWAWSSYRI TWSRCGVSWGPSRSSSLRCC CGSTGWGCPSRTIAQAC in isoform 2.
VSP_007633Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057090 mRNA. Translation: BAB71363.1.
AL031658 Genomic DNA. Translation: CAI42581.1.
BC030254 mRNA. Translation: AAH30254.1.
BC032455 mRNA. Translation: AAH32455.1. Different initiation.
CCDSiCCDS13195.1. [Q9NUG4-2]
RefSeqiNP_542192.2. NM_080625.3. [Q9NUG4-2]
XP_006723769.1. XM_006723706.1. [Q9NUG4-2]
UniGeneiHs.382151.
Hs.638682.

Genome annotation databases

EnsembliENST00000262659; ENSP00000262659; ENSG00000101331. [Q9NUG4-2]
ENST00000300415; ENSP00000300415; ENSG00000101331. [Q9NUG4-1]
GeneIDi140706.
KEGGihsa:140706.
UCSCiuc002wxf.2. human. [Q9NUG4-2]

Polymorphism databases

DMDMi32171369.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057090 mRNA. Translation: BAB71363.1 .
AL031658 Genomic DNA. Translation: CAI42581.1 .
BC030254 mRNA. Translation: AAH30254.1 .
BC032455 mRNA. Translation: AAH32455.1 . Different initiation.
CCDSi CCDS13195.1. [Q9NUG4-2 ]
RefSeqi NP_542192.2. NM_080625.3. [Q9NUG4-2 ]
XP_006723769.1. XM_006723706.1. [Q9NUG4-2 ]
UniGenei Hs.382151.
Hs.638682.

3D structure databases

ProteinModelPortali Q9NUG4.
SMRi Q9NUG4. Positions 62-156, 415-491.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126664. 1 interaction.
IntActi Q9NUG4. 3 interactions.
STRINGi 9606.ENSP00000262659.

PTM databases

PhosphoSitei Q9NUG4.

Polymorphism databases

DMDMi 32171369.

Proteomic databases

PaxDbi Q9NUG4.
PRIDEi Q9NUG4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262659 ; ENSP00000262659 ; ENSG00000101331 . [Q9NUG4-2 ]
ENST00000300415 ; ENSP00000300415 ; ENSG00000101331 . [Q9NUG4-1 ]
GeneIDi 140706.
KEGGi hsa:140706.
UCSCi uc002wxf.2. human. [Q9NUG4-2 ]

Organism-specific databases

CTDi 140706.
GeneCardsi GC20P030601.
HGNCi HGNC:16153. CCM2L.
HPAi HPA008434.
neXtProti NX_Q9NUG4.
PharmGKBi PA25702.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44028.
HOGENOMi HOG000231916.
HOVERGENi HBG054451.
InParanoidi Q9NUG4.
OMAi RRHTICG.
OrthoDBi EOG7SFHXM.
PhylomeDBi Q9NUG4.
TreeFami TF328517.

Miscellaneous databases

GenomeRNAii 140706.
NextBioi 84275.

Gene expression databases

ArrayExpressi Q9NUG4.
Bgeei Q9NUG4.
CleanExi HS_C20orf160.
Genevestigatori Q9NUG4.

Family and domain databases

InterProi IPR026159. Malcavernin.
[Graphical view ]
PANTHERi PTHR21642. PTHR21642. 1 hit.
ProtoNeti Search...

Publicationsi

  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] (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.
    , 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).

Entry informationi

Entry nameiCCM2L_HUMAN
AccessioniPrimary (citable) accession number: Q9NUG4
Secondary accession number(s): Q5JYR9
, Q8N5F1, Q8N6G8, Q96MD5
Entry historyi
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 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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