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Protein

Nuclear nucleic acid-binding protein C1D

Gene

C1D

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

Functioni

Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity).By similarity4 Publications

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • ligand-dependent nuclear receptor binding Source: Ensembl
  • RNA binding Source: UniProtKB
  • transcription corepressor activity Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor, RNA-binding
Biological processApoptosis, rRNA processing, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
SIGNORiQ13901

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear nucleic acid-binding protein C1D
Short name:
hC1D
Gene namesi
Name:C1D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000197223.11
HGNCiHGNC:29911 C1D
MIMi606997 gene
neXtProtiNX_Q13901

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10438
OpenTargetsiENSG00000197223
PharmGKBiPA164717007

Polymorphism and mutation databases

BioMutaiC1D
DMDMi74754472

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003163001 – 141Nuclear nucleic acid-binding protein C1DAdd BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki119Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki126Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki132Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Phosphorylated by PRKDC.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ13901
MaxQBiQ13901
PaxDbiQ13901
PeptideAtlasiQ13901
PRIDEiQ13901
ProteomicsDBi59719
TopDownProteomicsiQ13901

PTM databases

iPTMnetiQ13901
PhosphoSitePlusiQ13901

Expressioni

Tissue specificityi

Ubiquitous. Expressed at very high levels in the hippocampus, medulla oblongata, mammary gland, thyroid and salivary gland. Expressed at high levels in the fetal; lung, liver and kidney. Expressed at low levels in skeletal muscle, appendix, heart, lung and colon.1 Publication

Inductioni

By gamma-radiation.1 Publication

Gene expression databases

BgeeiENSG00000197223
ExpressionAtlasiQ13901 baseline and differential
GenevisibleiQ13901 HS

Organism-specific databases

HPAiHPA037413
HPA037588

Interactioni

Subunit structurei

Monomer and homodimer. Interacts with NR1D1, THRA, THRB, NCOR1 and NCOR2 (By similarity). Interacts with EXOSC10; the interaction probably mediates the association with the nuclear form of the RNA exosome. The homodimeric form interacts with TSNAX following gamma-radiation. Interacts with RAC3.By similarity5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115705, 33 interactors
CORUMiQ13901
IntActiQ13901, 12 interactors
MINTiQ13901
STRINGi9606.ENSP00000348107

Structurei

3D structure databases

ProteinModelPortaliQ13901
SMRiQ13901
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 100Required for transcriptional repressionBy similarityAdd BLAST100
Regioni50 – 100Interaction with NR1D1By similarityAdd BLAST51
Regioni100 – 141Interaction with NCOR1 and NCOR2By similarityAdd BLAST42

Sequence similaritiesi

Belongs to the C1D family.Curated

Phylogenomic databases

eggNOGiKOG4835 Eukaryota
ENOG4111ZX6 LUCA
GeneTreeiENSGT00390000015405
HOGENOMiHOG000007644
HOVERGENiHBG097935
InParanoidiQ13901
KOiK12592
PhylomeDBiQ13901
TreeFamiTF314651

Family and domain databases

InterProiView protein in InterPro
IPR011082 Exosome-assoc_fac/DNA_repair
IPR007146 Sas10/Utp3/C1D
PANTHERiPTHR15341 PTHR15341, 1 hit
PfamiView protein in Pfam
PF04000 Sas10_Utp3, 1 hit

Sequencei

Sequence statusi: Complete.

Q13901-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGEEINEDY PVEIHEYLSA FENSIGAVDE MLKTMMSVSR NELLQKLDPL
60 70 80 90 100
EQAKVDLVSA YTLNSMFWVY LATQGVNPKE HPVKQELERI RVYMNRVKEI
110 120 130 140
TDKKKAGKLD RGAASRFVKN ALWEPKSKNA SKVANKGKSK S
Length:141
Mass (Da):16,019
Last modified:November 1, 1996 - v1
Checksum:i9976A3BBD5620D63
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76V → I in BAF83140 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053990127S → P. Corresponds to variant dbSNP:rs10444Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X95592 mRNA Translation: CAA64845.1
AK290451 mRNA Translation: BAF83140.1
AC079112 Genomic DNA Translation: AAX88887.1
CH471053 Genomic DNA Translation: EAW99884.1
CH471053 Genomic DNA Translation: EAW99885.1
BC005235 mRNA Translation: AAH05235.1
BC009584 mRNA Translation: AAH09584.1
BC009589 mRNA Translation: AAH09589.1
BC016284 mRNA Translation: AAH16284.1
CCDSiCCDS1883.1
RefSeqiNP_001177192.1, NM_001190263.1
NP_001177194.1, NM_001190265.1
NP_006324.1, NM_006333.3
NP_775269.1, NM_173177.2
UniGeneiHs.602900
Hs.697447

Genome annotation databases

EnsembliENST00000355848; ENSP00000348107; ENSG00000197223
ENST00000409302; ENSP00000386779; ENSG00000197223
ENST00000410067; ENSP00000386468; ENSG00000197223
GeneIDi10438
KEGGihsa:10438
UCSCiuc002seb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiC1D_HUMAN
AccessioniPrimary (citable) accession number: Q13901
Secondary accession number(s): A8K336, D6W5F8, Q05D64
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: November 1, 1996
Last modified: July 18, 2018
This is version 142 of the entry and version 1 of the sequence. See 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 2
    Human chromosome 2: 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

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