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UniProtKB - Q14129 (DGCR6_HUMAN)
Protein
Protein DGCR6
Gene
DGCR6
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.
GO - Biological processi
- animal organ morphogenesis Source: ProtInc
- cell adhesion Source: ProtInc
Enzyme and pathway databases
PathwayCommonsi | Q14129 |
SignaLinki | Q14129 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein DGCR6Alternative name(s): DiGeorge syndrome critical region 6 |
Gene namesi | Name:DGCR6 |
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:2846, DGCR6 |
MIMi | 601279, gene |
neXtProti | NX_Q14129 |
VEuPathDBi | HostDB:ENSG00000183628 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Note: Predominantly nuclear.
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- extracellular matrix Source: ProtInc
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 8214 |
GeneReviewsi | DGCR6 |
MalaCardsi | DGCR6 |
OpenTargetsi | ENSG00000183628 |
PharmGKBi | PA27308 |
Miscellaneous databases
Pharosi | Q14129, Tbio |
Genetic variation databases
BioMutai | DGCR6 |
DMDMi | 22002047 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000070259 | 1 – 220 | Protein DGCR6Add BLAST | 220 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q14129 |
MaxQBi | Q14129 |
PaxDbi | Q14129 |
PeptideAtlasi | Q14129 |
PRIDEi | Q14129 |
ProteomicsDBi | 33959 59830 [Q14129-1] |
PTM databases
GlyGeni | Q14129, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q14129 |
PhosphoSitePlusi | Q14129 |
Expressioni
Tissue specificityi
Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.2 Publications
Inductioni
Increased levels in several tumor cell lines, including lung and colon adenocarcinomas and mammary carcinomas. Strongly induced in Burkitt's lymphoma and lymphocytes transformed by EBV.
Gene expression databases
Bgeei | ENSG00000183628, Expressed in cerebellum and 117 other tissues |
ExpressionAtlasi | Q14129, baseline and differential |
Genevisiblei | Q14129, HS |
Organism-specific databases
HPAi | ENSG00000183628, Group enriched (heart muscle, skeletal muscle) |
Interactioni
Binary interactionsi
Q14129
Protein-protein interaction databases
BioGRIDi | 113850, 70 interactors |
IntActi | Q14129, 16 interactors |
STRINGi | 9606.ENSP00000331681 |
Miscellaneous databases
RNActi | Q14129, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 76 – 142 | Sequence analysisAdd BLAST | 67 |
Sequence similaritiesi
Belongs to the gonadal family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4810, Eukaryota |
GeneTreei | ENSGT00390000017663 |
HOGENOMi | CLU_096921_1_1_1 |
InParanoidi | Q14129 |
OMAi | GHDINTE |
PhylomeDBi | Q14129 |
TreeFami | TF324608 |
Family and domain databases
InterProi | View protein in InterPro IPR010849, Gonadal |
PANTHERi | PTHR13054, PTHR13054, 1 hit |
Pfami | View protein in Pfam PF07324, DGCR6, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q14129-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD
60 70 80 90 100
LALALLDGTV FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH
110 120 130 140 150
QEAQQACRPH NLPVLQAAQQ RELEAVEHRI REEQRAMDQK IVLELDRKVA
160 170 180 190 200
DQQSTLEKAG VAGFYVTTNP QELMLQMNLL ELIRKLQQRG CWAGKAALGL
210 220
GGPWQLPAAQ CDQKGSPVPP
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EPQ2 | K7EPQ2_HUMAN | Protein DGCR6 | DGCR6 | 104 | Annotation score: | ||
Q6FGH4 | Q6FGH4_HUMAN | DGCR6 protein | DGCR6 | 84 | Annotation score: | ||
K7ELY4 | K7ELY4_HUMAN | Protein DGCR6 | DGCR6 | 144 | Annotation score: |
Sequence cautioni
The sequence CAA65339 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1 – 12 | MERYA…LEEVA → PKGAKAGYQPRG (PubMed:8733130).CuratedAdd BLAST | 12 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033866 | 117 | A → V. Corresponds to variant dbSNP:rs16983281Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055898 | 92 – 162 | LRQAL…KAGVA → PRTFWNPLETCRDSGVGGWR RLASSPVQTPLWPGCSAGLC SGRRCGRSTRKPSRPAGPIT CLCFRRLSSEN in isoform 2. 1 PublicationAdd BLAST | 71 | |
Alternative sequenceiVSP_055899 | 163 – 220 | Missing in isoform 2. 1 PublicationAdd BLAST | 58 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF228707 mRNA Translation: AAK15584.1 X96484 mRNA Translation: CAA65339.1 Frameshift. KJ535003 mRNA Translation: AHW56642.1 CR456434 mRNA Translation: CAG30320.1 AK315115 mRNA Translation: BAG37572.1 AC007326 Genomic DNA No translation available. CH471176 Genomic DNA Translation: EAX03075.1 CH471176 Genomic DNA Translation: EAX03077.1 BC047039 mRNA Translation: AAH47039.1 |
CCDSi | CCDS13753.1 [Q14129-1] |
RefSeqi | NP_005666.2, NM_005675.4 [Q14129-1] XP_006724997.1, XM_006724934.1 |
Genome annotation databases
Ensembli | ENST00000331444.12; ENSP00000331681.6; ENSG00000183628.14 ENST00000427407.5; ENSP00000397633.2; ENSG00000183628.14 [Q14129-2] |
GeneIDi | 8214 |
KEGGi | hsa:8214 |
MANE-Selecti | ENST00000331444.12; ENSP00000331681.6; NM_005675.6; NP_005666.2 |
UCSCi | uc062bjm.1, human [Q14129-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF228707 mRNA Translation: AAK15584.1 X96484 mRNA Translation: CAA65339.1 Frameshift. KJ535003 mRNA Translation: AHW56642.1 CR456434 mRNA Translation: CAG30320.1 AK315115 mRNA Translation: BAG37572.1 AC007326 Genomic DNA No translation available. CH471176 Genomic DNA Translation: EAX03075.1 CH471176 Genomic DNA Translation: EAX03077.1 BC047039 mRNA Translation: AAH47039.1 |
CCDSi | CCDS13753.1 [Q14129-1] |
RefSeqi | NP_005666.2, NM_005675.4 [Q14129-1] XP_006724997.1, XM_006724934.1 |
3D structure databases
AlphaFoldDBi | Q14129 |
SMRi | Q14129 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 113850, 70 interactors |
IntActi | Q14129, 16 interactors |
STRINGi | 9606.ENSP00000331681 |
PTM databases
GlyGeni | Q14129, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q14129 |
PhosphoSitePlusi | Q14129 |
Genetic variation databases
BioMutai | DGCR6 |
DMDMi | 22002047 |
Proteomic databases
MassIVEi | Q14129 |
MaxQBi | Q14129 |
PaxDbi | Q14129 |
PeptideAtlasi | Q14129 |
PRIDEi | Q14129 |
ProteomicsDBi | 33959 59830 [Q14129-1] |
Protocols and materials databases
Antibodypediai | 22788, 89 antibodies from 16 providers |
DNASUi | 8214 |
Genome annotation databases
Ensembli | ENST00000331444.12; ENSP00000331681.6; ENSG00000183628.14 ENST00000427407.5; ENSP00000397633.2; ENSG00000183628.14 [Q14129-2] |
GeneIDi | 8214 |
KEGGi | hsa:8214 |
MANE-Selecti | ENST00000331444.12; ENSP00000331681.6; NM_005675.6; NP_005666.2 |
UCSCi | uc062bjm.1, human [Q14129-1] |
Organism-specific databases
CTDi | 8214 |
DisGeNETi | 8214 |
GeneCardsi | DGCR6 |
GeneReviewsi | DGCR6 |
HGNCi | HGNC:2846, DGCR6 |
HPAi | ENSG00000183628, Group enriched (heart muscle, skeletal muscle) |
MalaCardsi | DGCR6 |
MIMi | 601279, gene |
neXtProti | NX_Q14129 |
OpenTargetsi | ENSG00000183628 |
PharmGKBi | PA27308 |
VEuPathDBi | HostDB:ENSG00000183628 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4810, Eukaryota |
GeneTreei | ENSGT00390000017663 |
HOGENOMi | CLU_096921_1_1_1 |
InParanoidi | Q14129 |
OMAi | GHDINTE |
PhylomeDBi | Q14129 |
TreeFami | TF324608 |
Enzyme and pathway databases
PathwayCommonsi | Q14129 |
SignaLinki | Q14129 |
Miscellaneous databases
BioGRID-ORCSi | 102724770, 0 hits in 4 CRISPR screens 8214, 41 hits in 1005 CRISPR screens |
ChiTaRSi | DGCR6, human |
GeneWikii | DGCR6 |
Pharosi | Q14129, Tbio |
PROi | PR:Q14129 |
RNActi | Q14129, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183628, Expressed in cerebellum and 117 other tissues |
ExpressionAtlasi | Q14129, baseline and differential |
Genevisiblei | Q14129, HS |
Family and domain databases
InterProi | View protein in InterPro IPR010849, Gonadal |
PANTHERi | PTHR13054, PTHR13054, 1 hit |
Pfami | View protein in Pfam PF07324, DGCR6, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DGCR6_HUMAN | |
Accessioni | Q14129Primary (citable) accession number: Q14129 Secondary accession number(s): B2RCH5 Q9BY28 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | July 26, 2002 | |
Last modified: | May 25, 2022 | |
This is version 158 of the entry and version 3 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 22
Human chromosome 22: 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