UniProtKB - Q13901 (C1D_HUMAN)
Protein
Nuclear nucleic acid-binding protein C1D
Gene
C1D
Organism
Homo sapiens (Human)
Status
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: GO_Central
- RNA binding Source: UniProtKB
GO - Biological processi
- apoptotic process Source: UniProtKB-KW
- maturation of 5.8S rRNA Source: UniProtKB
- regulation of gene expression Source: GO_Central
- rRNA processing Source: Reactome
Keywordsi
Molecular function | DNA-binding, Repressor, RNA-binding |
Biological process | Apoptosis, rRNA processing, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q13901 |
Reactomei | R-HSA-6791226, Major pathway of rRNA processing in the nucleolus and cytosol |
SIGNORi | Q13901 |
Names & Taxonomyi
Protein namesi | Recommended name: Nuclear nucleic acid-binding protein C1DShort name: hC1D |
Gene namesi | Name:C1D |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29911, C1D |
MIMi | 606997, gene |
neXtProti | NX_Q13901 |
VEuPathDBi | HostDB:ENSG00000197223.11 |
Subcellular locationi
Nucleus
- nuclear exosome (RNase complex) Source: UniProtKB
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: ProtInc
Other locations
- cytoplasm Source: UniProtKB-SubCell
- exosome (RNase complex) Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 10438 |
OpenTargetsi | ENSG00000197223 |
PharmGKBi | PA164717007 |
Miscellaneous databases
Pharosi | Q13901, Tbio |
Genetic variation databases
BioMutai | C1D |
DMDMi | 74754472 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000316300 | 1 – 141 | Nuclear nucleic acid-binding protein C1DAdd BLAST | 141 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 119 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 126 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 132 | Glycyl 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 conjugationProteomic databases
EPDi | Q13901 |
jPOSTi | Q13901 |
MassIVEi | Q13901 |
MaxQBi | Q13901 |
PaxDbi | Q13901 |
PeptideAtlasi | Q13901 |
PRIDEi | Q13901 |
ProteomicsDBi | 59719 |
TopDownProteomicsi | Q13901 |
PTM databases
iPTMneti | Q13901 |
PhosphoSitePlusi | Q13901 |
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
Bgeei | ENSG00000197223, Expressed in islet of Langerhans and 118 other tissues |
ExpressionAtlasi | Q13901, baseline and differential |
Genevisiblei | Q13901, HS |
Organism-specific databases
HPAi | ENSG00000197223, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsQ13901
Protein-protein interaction databases
BioGRIDi | 115705, 42 interactors |
CORUMi | Q13901 |
IntActi | Q13901, 36 interactors |
MINTi | Q13901 |
STRINGi | 9606.ENSP00000348107 |
Miscellaneous databases
RNActi | Q13901, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 100 | Required for transcriptional repressionBy similarityAdd BLAST | 100 | |
Regioni | 50 – 100 | Interaction with NR1D1By similarityAdd BLAST | 51 | |
Regioni | 100 – 141 | Interaction with NCOR1 and NCOR2By similarityAdd BLAST | 42 |
Sequence similaritiesi
Belongs to the C1D family.Curated
Phylogenomic databases
eggNOGi | KOG4835, Eukaryota |
GeneTreei | ENSGT00390000015405 |
HOGENOMi | CLU_064339_4_1_1 |
InParanoidi | Q13901 |
OMAi | NALWEPN |
OrthoDBi | 1436833at2759 |
PhylomeDBi | Q13901 |
TreeFami | TF314651 |
Family and domain databases
InterProi | View protein in InterPro IPR011082, Exosome-assoc_fac/DNA_repair IPR007146, Sas10/Utp3/C1D |
PANTHERi | PTHR15341, PTHR15341, 1 hit |
Pfami | View protein in Pfam PF04000, Sas10_Utp3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q13901-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketJ3KPZ4 | J3KPZ4_HUMAN | Nuclear nucleic acid-binding protei... | C1D | 180 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 76 | V → I in BAF83140 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053990 | 127 | S → 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 |
CCDSi | CCDS1883.1 |
RefSeqi | NP_001177192.1, NM_001190263.1 NP_001177194.1, NM_001190265.1 NP_006324.1, NM_006333.3 NP_775269.1, NM_173177.2 |
Genome annotation databases
Ensembli | ENST00000355848; ENSP00000348107; ENSG00000197223 ENST00000409302; ENSP00000386779; ENSG00000197223 ENST00000410067; ENSP00000386468; ENSG00000197223 |
GeneIDi | 10438 |
KEGGi | hsa:10438 |
UCSCi | uc002seb.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS1883.1 |
RefSeqi | NP_001177192.1, NM_001190263.1 NP_001177194.1, NM_001190265.1 NP_006324.1, NM_006333.3 NP_775269.1, NM_173177.2 |
3D structure databases
SMRi | Q13901 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115705, 42 interactors |
CORUMi | Q13901 |
IntActi | Q13901, 36 interactors |
MINTi | Q13901 |
STRINGi | 9606.ENSP00000348107 |
PTM databases
iPTMneti | Q13901 |
PhosphoSitePlusi | Q13901 |
Genetic variation databases
BioMutai | C1D |
DMDMi | 74754472 |
Proteomic databases
EPDi | Q13901 |
jPOSTi | Q13901 |
MassIVEi | Q13901 |
MaxQBi | Q13901 |
PaxDbi | Q13901 |
PeptideAtlasi | Q13901 |
PRIDEi | Q13901 |
ProteomicsDBi | 59719 |
TopDownProteomicsi | Q13901 |
Protocols and materials databases
Antibodypediai | 30893, 282 antibodies |
DNASUi | 10438 |
Genome annotation databases
Ensembli | ENST00000355848; ENSP00000348107; ENSG00000197223 ENST00000409302; ENSP00000386779; ENSG00000197223 ENST00000410067; ENSP00000386468; ENSG00000197223 |
GeneIDi | 10438 |
KEGGi | hsa:10438 |
UCSCi | uc002seb.4, human |
Organism-specific databases
CTDi | 10438 |
DisGeNETi | 10438 |
GeneCardsi | C1D |
HGNCi | HGNC:29911, C1D |
HPAi | ENSG00000197223, Low tissue specificity |
MIMi | 606997, gene |
neXtProti | NX_Q13901 |
OpenTargetsi | ENSG00000197223 |
PharmGKBi | PA164717007 |
VEuPathDBi | HostDB:ENSG00000197223.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4835, Eukaryota |
GeneTreei | ENSGT00390000015405 |
HOGENOMi | CLU_064339_4_1_1 |
InParanoidi | Q13901 |
OMAi | NALWEPN |
OrthoDBi | 1436833at2759 |
PhylomeDBi | Q13901 |
TreeFami | TF314651 |
Enzyme and pathway databases
PathwayCommonsi | Q13901 |
Reactomei | R-HSA-6791226, Major pathway of rRNA processing in the nucleolus and cytosol |
SIGNORi | Q13901 |
Miscellaneous databases
BioGRID-ORCSi | 10438, 249 hits in 965 CRISPR screens |
ChiTaRSi | C1D, human |
GeneWikii | C1D |
GenomeRNAii | 10438 |
Pharosi | Q13901, Tbio |
PROi | PR:Q13901 |
RNActi | Q13901, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197223, Expressed in islet of Langerhans and 118 other tissues |
ExpressionAtlasi | Q13901, baseline and differential |
Genevisiblei | Q13901, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011082, Exosome-assoc_fac/DNA_repair IPR007146, Sas10/Utp3/C1D |
PANTHERi | PTHR15341, PTHR15341, 1 hit |
Pfami | View protein in Pfam PF04000, Sas10_Utp3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | C1D_HUMAN | |
Accessioni | Q13901Primary (citable) accession number: Q13901 Secondary accession number(s): A8K336, D6W5F8, Q05D64 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 5, 2008 |
Last sequence update: | November 1, 1996 | |
Last modified: | April 7, 2021 | |
This is version 158 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families