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Protein

Protein DGCR6

Gene

DGCR6

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

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein DGCR6
Alternative name(s):
DiGeorge syndrome critical region 6
Gene namesi
Name:DGCR6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000183628.12
HGNCiHGNC:2846 DGCR6
MIMi601279 gene
neXtProtiNX_Q14129

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

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi8214
GeneReviewsiDGCR6
MalaCardsiDGCR6
OpenTargetsiENSG00000183628
PharmGKBiPA27308

Polymorphism and mutation databases

BioMutaiDGCR6
DMDMi22002047

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000702591 – 220Protein DGCR6Add BLAST220

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ14129
PaxDbiQ14129
PeptideAtlasiQ14129
PRIDEiQ14129
ProteomicsDBi59830

PTM databases

iPTMnetiQ14129
PhosphoSitePlusiQ14129

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

BgeeiENSG00000183628 Expressed in 92 organ(s), highest expression level in gastrocnemius
CleanExiHS_DGCR6
ExpressionAtlasiQ14129 baseline and differential
GenevisibleiQ14129 HS

Interactioni

Protein-protein interaction databases

BioGridi113850, 61 interactors
IntActiQ14129, 6 interactors
STRINGi9606.ENSP00000331681

Structurei

3D structure databases

ProteinModelPortaliQ14129
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili76 – 142Sequence analysisAdd BLAST67

Sequence similaritiesi

Belongs to the gonadal family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4810 Eukaryota
ENOG4111RN8 LUCA
GeneTreeiENSGT00390000017663
HOGENOMiHOG000006852
HOVERGENiHBG051343
InParanoidiQ14129
OMAiLYNQRQK
OrthoDBiEOG091G0U3W
PhylomeDBiQ14129
TreeFamiTF324608

Family and domain databases

InterProiView protein in InterPro
IPR010849 Gonadal
PANTHERiPTHR13054 PTHR13054, 1 hit
PfamiView protein in Pfam
PF07324 DGCR6, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
        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
Length:220
Mass (Da):24,989
Last modified:July 26, 2002 - v3
Checksum:iDF68DEAF5BF6B8BB
GO
Isoform 2 (identifier: Q14129-2) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     92-162: LRQALRQKHQ...QSTLEKAGVA → PRTFWNPLET...LCFRRLSSEN
     163-220: Missing.

Show »
Length:162
Mass (Da):18,244
Checksum:i3B4BBCA6F7587314
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6FGH4Q6FGH4_HUMAN
DGCR6 protein
DGCR6
84Annotation score:
K7ELY4K7ELY4_HUMAN
Protein DGCR6
DGCR6
144Annotation score:
K7EPQ2K7EPQ2_HUMAN
Protein DGCR6
DGCR6
104Annotation score:

Sequence cautioni

The sequence CAA65339 differs from that shown. Reason: Frameshift at position 69.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1 – 12MERYA…LEEVA → PKGAKAGYQPRG (PubMed:8733130).CuratedAdd BLAST12

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033866117A → V. Corresponds to variant dbSNP:rs16983281Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05589892 – 162LRQAL…KAGVA → PRTFWNPLETCRDSGVGGWR RLASSPVQTPLWPGCSAGLC SGRRCGRSTRKPSRPAGPIT CLCFRRLSSEN in isoform 2. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_055899163 – 220Missing in isoform 2. 1 PublicationAdd BLAST58

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
CCDSiCCDS13753.1 [Q14129-1]
RefSeqiNP_005666.2, NM_005675.4 [Q14129-1]
XP_006724997.1, XM_006724934.1 [Q14129-1]
UniGeneiHs.474185

Genome annotation databases

EnsembliENST00000331444; ENSP00000331681; ENSG00000183628 [Q14129-1]
ENST00000427407; ENSP00000397633; ENSG00000183628 [Q14129-2]
GeneIDi102724770
8214
KEGGihsa:102724770
hsa:8214
UCSCiuc062bjm.1 human [Q14129-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS13753.1 [Q14129-1]
RefSeqiNP_005666.2, NM_005675.4 [Q14129-1]
XP_006724997.1, XM_006724934.1 [Q14129-1]
UniGeneiHs.474185

3D structure databases

ProteinModelPortaliQ14129
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113850, 61 interactors
IntActiQ14129, 6 interactors
STRINGi9606.ENSP00000331681

PTM databases

iPTMnetiQ14129
PhosphoSitePlusiQ14129

Polymorphism and mutation databases

BioMutaiDGCR6
DMDMi22002047

Proteomic databases

EPDiQ14129
PaxDbiQ14129
PeptideAtlasiQ14129
PRIDEiQ14129
ProteomicsDBi59830

Protocols and materials databases

DNASUi8214
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331444; ENSP00000331681; ENSG00000183628 [Q14129-1]
ENST00000427407; ENSP00000397633; ENSG00000183628 [Q14129-2]
GeneIDi102724770
8214
KEGGihsa:102724770
hsa:8214
UCSCiuc062bjm.1 human [Q14129-1]

Organism-specific databases

CTDi8214
DisGeNETi8214
EuPathDBiHostDB:ENSG00000183628.12
GeneCardsiDGCR6
GeneReviewsiDGCR6
HGNCiHGNC:2846 DGCR6
MalaCardsiDGCR6
MIMi601279 gene
neXtProtiNX_Q14129
OpenTargetsiENSG00000183628
PharmGKBiPA27308
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4810 Eukaryota
ENOG4111RN8 LUCA
GeneTreeiENSGT00390000017663
HOGENOMiHOG000006852
HOVERGENiHBG051343
InParanoidiQ14129
OMAiLYNQRQK
OrthoDBiEOG091G0U3W
PhylomeDBiQ14129
TreeFamiTF324608

Miscellaneous databases

GeneWikiiDGCR6
PROiPR:Q14129
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183628 Expressed in 92 organ(s), highest expression level in gastrocnemius
CleanExiHS_DGCR6
ExpressionAtlasiQ14129 baseline and differential
GenevisibleiQ14129 HS

Family and domain databases

InterProiView protein in InterPro
IPR010849 Gonadal
PANTHERiPTHR13054 PTHR13054, 1 hit
PfamiView protein in Pfam
PF07324 DGCR6, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDGCR6_HUMAN
AccessioniPrimary (citable) accession number: Q14129
Secondary accession number(s): B2RCH5
, D3DX15, G5E9J8, Q9BY28
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 26, 2002
Last modified: September 12, 2018
This is version 136 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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