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Protein

Protein DGCR6L

Gene

DGCR6L

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.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein DGCR6L
Alternative name(s):
DiGeorge syndrome critical region 6-like protein
Gene namesi
Name:DGCR6L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000128185.9
HGNCiHGNC:18551 DGCR6L
MIMi609459 gene
neXtProtiNX_Q9BY27

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

DisGeNETi85359
OpenTargetsiENSG00000128185
PharmGKBiPA38570

Polymorphism and mutation databases

BioMutaiDGCR6L
DMDMi22001579

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000702601 – 220Protein DGCR6LAdd BLAST220

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BY27
MaxQBiQ9BY27
PaxDbiQ9BY27
PeptideAtlasiQ9BY27
PRIDEiQ9BY27
ProteomicsDBi79570

PTM databases

iPTMnetiQ9BY27
PhosphoSitePlusiQ9BY27

Expressioni

Tissue specificityi

Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.2 Publications

Gene expression databases

BgeeiENSG00000128185 Expressed in 90 organ(s), highest expression level in right testis
CleanExiHS_DGCR6L
ExpressionAtlasiQ9BY27 baseline and differential
GenevisibleiQ9BY27 HS

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi124488, 12 interactors
IntActiQ9BY27, 28 interactors
MINTiQ9BY27
STRINGi9606.ENSP00000248879

Structurei

3D structure databases

ProteinModelPortaliQ9BY27
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili76 – 159Sequence analysisAdd BLAST84

Sequence similaritiesi

Belongs to the gonadal family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4810 Eukaryota
ENOG4111RN8 LUCA
GeneTreeiENSGT00390000017663
HOGENOMiHOG000006852
HOVERGENiHBG051343
InParanoidiQ9BY27
OMAiKELPRCA
OrthoDBiEOG091G0U3W
PhylomeDBiQ9BY27
TreeFamiTF324608

Family and domain databases

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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9BY27-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MERYAAALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD
60 70 80 90 100
LALALLDGTV FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH
110 120 130 140 150
QEAQQACRPH NLPVVQAAQQ RELEAVEHRI REEQRAMDQK IILELDRKVA
160 170 180 190 200
DQQSTLEKAG VAGFYVTTNP QELMLQMNLL ELIRKLQQRG CRAGNAALGL
210 220
GGPWQSPAAQ CDQKGSPVPP
Length:220
Mass (Da):24,932
Last modified:July 26, 2002 - v2
Checksum:i558F15EA4B95405B
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MCQ4B5MCQ4_HUMAN
Protein DGCR6L
DGCR6L
182Annotation score:
F8WCX1F8WCX1_HUMAN
Protein DGCR6L
DGCR6L
97Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14G → S in AAK15585 (PubMed:11157784).Curated1
Sequence conflicti81Q → R in BAG50932 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055870115V → L. Corresponds to variant dbSNP:rs1056818Ensembl.1
Natural variantiVAR_055871195N → K. Corresponds to variant dbSNP:rs1056804Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF228708 mRNA Translation: AAK15585.1
CR456361 mRNA Translation: CAG30247.1
AK001528 mRNA Translation: BAG50932.1
AK289952 mRNA Translation: BAF82641.1
CH471176 Genomic DNA Translation: EAX02973.1
CH471176 Genomic DNA Translation: EAX02974.1
BC000682 mRNA Translation: AAH00682.1
CCDSiCCDS13778.1
RefSeqiNP_150282.2, NM_033257.3
UniGeneiHs.410965

Genome annotation databases

EnsembliENST00000248879; ENSP00000248879; ENSG00000128185
GeneIDi85359
KEGGihsa:85359
UCSCiuc002zrx.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF228708 mRNA Translation: AAK15585.1
CR456361 mRNA Translation: CAG30247.1
AK001528 mRNA Translation: BAG50932.1
AK289952 mRNA Translation: BAF82641.1
CH471176 Genomic DNA Translation: EAX02973.1
CH471176 Genomic DNA Translation: EAX02974.1
BC000682 mRNA Translation: AAH00682.1
CCDSiCCDS13778.1
RefSeqiNP_150282.2, NM_033257.3
UniGeneiHs.410965

3D structure databases

ProteinModelPortaliQ9BY27
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124488, 12 interactors
IntActiQ9BY27, 28 interactors
MINTiQ9BY27
STRINGi9606.ENSP00000248879

PTM databases

iPTMnetiQ9BY27
PhosphoSitePlusiQ9BY27

Polymorphism and mutation databases

BioMutaiDGCR6L
DMDMi22001579

Proteomic databases

EPDiQ9BY27
MaxQBiQ9BY27
PaxDbiQ9BY27
PeptideAtlasiQ9BY27
PRIDEiQ9BY27
ProteomicsDBi79570

Protocols and materials databases

DNASUi85359
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000248879; ENSP00000248879; ENSG00000128185
GeneIDi85359
KEGGihsa:85359
UCSCiuc002zrx.4 human

Organism-specific databases

CTDi85359
DisGeNETi85359
EuPathDBiHostDB:ENSG00000128185.9
GeneCardsiDGCR6L
H-InvDBiHIX0016257
HGNCiHGNC:18551 DGCR6L
MIMi609459 gene
neXtProtiNX_Q9BY27
OpenTargetsiENSG00000128185
PharmGKBiPA38570
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4810 Eukaryota
ENOG4111RN8 LUCA
GeneTreeiENSGT00390000017663
HOGENOMiHOG000006852
HOVERGENiHBG051343
InParanoidiQ9BY27
OMAiKELPRCA
OrthoDBiEOG091G0U3W
PhylomeDBiQ9BY27
TreeFamiTF324608

Miscellaneous databases

ChiTaRSiDGCR6L human
GenomeRNAii85359
PROiPR:Q9BY27
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128185 Expressed in 90 organ(s), highest expression level in right testis
CleanExiHS_DGCR6L
ExpressionAtlasiQ9BY27 baseline and differential
GenevisibleiQ9BY27 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 nameiDGC6L_HUMAN
AccessioniPrimary (citable) accession number: Q9BY27
Secondary accession number(s): A8K1N7
, B3KMC0, D3DX29, Q9BW33
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: July 26, 2002
Last modified: September 12, 2018
This is version 123 of the entry and version 2 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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