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Q5T280

- CI114_HUMAN

UniProt

Q5T280 - CI114_HUMAN

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Protein

Putative methyltransferase C9orf114

Gene

C9orf114

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
Putative methyltransferase C9orf114Curated (EC:2.1.1.-Curated)
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:26933. C9orf114.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134958095.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 376376Putative methyltransferase C9orf114PRO_0000238468Add
BLAST

Proteomic databases

MaxQBiQ5T280.
PaxDbiQ5T280.
PRIDEiQ5T280.

PTM databases

PhosphoSiteiQ5T280.

Expressioni

Gene expression databases

BgeeiQ5T280.
CleanExiHS_C9orf114.
ExpressionAtlasiQ5T280. baseline and differential.
GenevestigatoriQ5T280.

Organism-specific databases

HPAiHPA022990.

Interactioni

Protein-protein interaction databases

BioGridi119567. 8 interactions.
IntActiQ5T280. 3 interactions.
MINTiMINT-4826834.
STRINGi9606.ENSP00000354812.

Structurei

3D structure databases

ProteinModelPortaliQ5T280.
SMRiQ5T280. Positions 75-364.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG2106.
GeneTreeiENSGT00390000016537.
HOGENOMiHOG000230622.
HOVERGENiHBG058241.
InParanoidiQ5T280.
KOiK09142.
OMAiYLNTCPS.
OrthoDBiEOG773XGP.
PhylomeDBiQ5T280.
TreeFamiTF105821.

Family and domain databases

Gene3Di3.40.1280.10. 2 hits.
InterProiIPR029028. Alpha/beta_knot_MTases.
IPR012340. NA-bd_OB-fold.
IPR003750. Put_MeTrfase.
IPR029026. tRNA_m1G_MTases_N.
[Graphical view]
PANTHERiPTHR12150. PTHR12150. 1 hit.
PfamiPF02598. Methyltrn_RNA_3. 1 hit.
[Graphical view]
SUPFAMiSSF50249. SSF50249. 1 hit.
SSF75217. SSF75217. 2 hits.

Sequencei

Sequence statusi: Complete.

Q5T280-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAERGRKRPC GPGEHGQRIE WRKWKQQKKE EKKKWKDLKL MKKLERQRAQ
60 70 80 90 100
EEQAKRLEEE EAAAEKEDRG RPYTLSVALP GSILDNAQSP ELRTYLAGQI
110 120 130 140 150
ARACAIFCVD EIVVFDEEGQ DAKTVEGEFT GVGKKGQACV QLARILQYLE
160 170 180 190 200
CPQYLRKAFF PKHQDLQFAG LLNPLDSPHH MRQDEESEFR EGIVVDRPTR
210 220 230 240 250
PGHGSFVNCG MKKEVKIDKN LEPGLRVTVR LNQQQHPDCK TYHGKVVSSQ
260 270 280 290 300
DPRTKAGLYW GYTVRLASCL SAVFAEAPFQ DGYDLTIGTS ERGSDVASAQ
310 320 330 340 350
LPNFRHALVV FGGLQGLEAG ADADPNLEVA EPSVLFDLYV NTCPGQGSRT
360 370
IRTEEAILIS LAALQPGLIQ AGARHT
Length:376
Mass (Da):42,009
Last modified:February 20, 2007 - v3
Checksum:i30A5AA406834DC27
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti343 – 3431C → Y in AAH33677. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631A → V.
Corresponds to variant rs34500948 [ dbSNP | Ensembl ].
VAR_050844
Natural varianti130 – 1301T → R.1 Publication
Corresponds to variant rs6478854 [ dbSNP | Ensembl ].
VAR_026552
Natural varianti369 – 3691I → T.1 Publication
Corresponds to variant rs2280843 [ dbSNP | Ensembl ].
VAR_026553

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL441992 Genomic DNA. Translation: CAI15413.1.
BC010579 mRNA. Translation: AAH10579.1.
BC033677 mRNA. Translation: AAH33677.1.
BC039590 mRNA. Translation: AAH39590.1.
BC046133 mRNA. Translation: AAH46133.1.
BC063644 mRNA. Translation: AAH63644.1.
BC021273 mRNA. Translation: AAH21273.1.
CCDSiCCDS6913.1.
RefSeqiNP_057474.2. NM_016390.3.
UniGeneiHs.224137.

Genome annotation databases

EnsembliENST00000361256; ENSP00000354812; ENSG00000198917.
GeneIDi51490.
KEGGihsa:51490.
UCSCiuc004bwd.3. human.

Polymorphism databases

DMDMi126302532.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL441992 Genomic DNA. Translation: CAI15413.1 .
BC010579 mRNA. Translation: AAH10579.1 .
BC033677 mRNA. Translation: AAH33677.1 .
BC039590 mRNA. Translation: AAH39590.1 .
BC046133 mRNA. Translation: AAH46133.1 .
BC063644 mRNA. Translation: AAH63644.1 .
BC021273 mRNA. Translation: AAH21273.1 .
CCDSi CCDS6913.1.
RefSeqi NP_057474.2. NM_016390.3.
UniGenei Hs.224137.

3D structure databases

ProteinModelPortali Q5T280.
SMRi Q5T280. Positions 75-364.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119567. 8 interactions.
IntActi Q5T280. 3 interactions.
MINTi MINT-4826834.
STRINGi 9606.ENSP00000354812.

PTM databases

PhosphoSitei Q5T280.

Polymorphism databases

DMDMi 126302532.

Proteomic databases

MaxQBi Q5T280.
PaxDbi Q5T280.
PRIDEi Q5T280.

Protocols and materials databases

DNASUi 51490.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361256 ; ENSP00000354812 ; ENSG00000198917 .
GeneIDi 51490.
KEGGi hsa:51490.
UCSCi uc004bwd.3. human.

Organism-specific databases

CTDi 51490.
GeneCardsi GC09M131581.
HGNCi HGNC:26933. C9orf114.
HPAi HPA022990.
neXtProti NX_Q5T280.
PharmGKBi PA134958095.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2106.
GeneTreei ENSGT00390000016537.
HOGENOMi HOG000230622.
HOVERGENi HBG058241.
InParanoidi Q5T280.
KOi K09142.
OMAi YLNTCPS.
OrthoDBi EOG773XGP.
PhylomeDBi Q5T280.
TreeFami TF105821.

Miscellaneous databases

GenomeRNAii 51490.
NextBioi 55150.

Gene expression databases

Bgeei Q5T280.
CleanExi HS_C9orf114.
ExpressionAtlasi Q5T280. baseline and differential.
Genevestigatori Q5T280.

Family and domain databases

Gene3Di 3.40.1280.10. 2 hits.
InterProi IPR029028. Alpha/beta_knot_MTases.
IPR012340. NA-bd_OB-fold.
IPR003750. Put_MeTrfase.
IPR029026. tRNA_m1G_MTases_N.
[Graphical view ]
PANTHERi PTHR12150. PTHR12150. 1 hit.
Pfami PF02598. Methyltrn_RNA_3. 1 hit.
[Graphical view ]
SUPFAMi SSF50249. SSF50249. 1 hit.
SSF75217. SSF75217. 2 hits.
ProtoNeti Search...

Publicationsi

  1. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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], VARIANTS ARG-130 AND THR-369.
    Tissue: Brain, Eye, Leukocyte, Ovary and Testis.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCI114_HUMAN
AccessioniPrimary (citable) accession number: Q5T280
Secondary accession number(s): Q0D2P6
, Q6P469, Q6PGP9, Q6PIJ1, Q6PJV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: February 20, 2007
Last modified: October 29, 2014
This is version 75 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 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3