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Protein

Protein DGCR6L

Gene

DGCR6L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

HGNCiHGNC:18551. DGCR6L.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38570.

Polymorphism and mutation databases

BioMutaiDGCR6L.
DMDMi22001579.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 220220Protein DGCR6LPRO_0000070260Add
BLAST

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BY27.
MaxQBiQ9BY27.
PaxDbiQ9BY27.
PeptideAtlasiQ9BY27.
PRIDEiQ9BY27.

PTM databases

iPTMnetiQ9BY27.

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

BgeeiQ9BY27.
CleanExiHS_DGCR6L.
ExpressionAtlasiQ9BY27. baseline and differential.
GenevisibleiQ9BY27. HS.

Organism-specific databases

HPAiHPA047905.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC67E9PJR53EBI-742953,EBI-10177066
CCDC67Q05D603EBI-742953,EBI-748597
KRT31Q153233EBI-742953,EBI-948001
LZTS2Q9BRK43EBI-742953,EBI-741037
MID2Q9UJV3-23EBI-742953,EBI-10172526
RIMBP3Q9UFD93EBI-742953,EBI-10182375
taxP140793EBI-742953,EBI-9675698From a different organism.

Protein-protein interaction databases

BioGridi124488. 12 interactions.
IntActiQ9BY27. 14 interactions.
STRINGi9606.ENSP00000248879.

Structurei

3D structure databases

ProteinModelPortaliQ9BY27.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili76 – 15984Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the gonadal family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4810. Eukaryota.
ENOG4111RN8. LUCA.
GeneTreeiENSGT00390000017663.
HOGENOMiHOG000006852.
HOVERGENiHBG051343.
InParanoidiQ9BY27.
OMAiMESESAE.
OrthoDBiEOG7MH11G.
PhylomeDBiQ9BY27.
TreeFamiTF324608.

Family and domain databases

InterProiIPR010849. Gonadal.
[Graphical view]
PANTHERiPTHR13054. PTHR13054. 1 hit.
PfamiPF07324. DGCR6. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141G → S in AAK15585 (PubMed:11157784).Curated
Sequence conflicti81 – 811Q → R in BAG50932 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151V → L.
Corresponds to variant rs1056818 [ dbSNP | Ensembl ].
VAR_055870
Natural varianti195 – 1951N → K.
Corresponds to variant rs1056804 [ dbSNP | Ensembl ].
VAR_055871

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

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 interactions.
IntActiQ9BY27. 14 interactions.
STRINGi9606.ENSP00000248879.

PTM databases

iPTMnetiQ9BY27.

Polymorphism and mutation databases

BioMutaiDGCR6L.
DMDMi22001579.

Proteomic databases

EPDiQ9BY27.
MaxQBiQ9BY27.
PaxDbiQ9BY27.
PeptideAtlasiQ9BY27.
PRIDEiQ9BY27.

Protocols and materials databases

DNASUi85359.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi85359.
GeneCardsiDGCR6L.
H-InvDBHIX0016257.
HGNCiHGNC:18551. DGCR6L.
HPAiHPA047905.
MIMi609459. gene.
neXtProtiNX_Q9BY27.
PharmGKBiPA38570.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4810. Eukaryota.
ENOG4111RN8. LUCA.
GeneTreeiENSGT00390000017663.
HOGENOMiHOG000006852.
HOVERGENiHBG051343.
InParanoidiQ9BY27.
OMAiMESESAE.
OrthoDBiEOG7MH11G.
PhylomeDBiQ9BY27.
TreeFamiTF324608.

Miscellaneous databases

ChiTaRSiDGCR6L. human.
GenomeRNAii85359.
PROiQ9BY27.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BY27.
CleanExiHS_DGCR6L.
ExpressionAtlasiQ9BY27. baseline and differential.
GenevisibleiQ9BY27. HS.

Family and domain databases

InterProiIPR010849. Gonadal.
[Graphical view]
PANTHERiPTHR13054. PTHR13054. 1 hit.
PfamiPF07324. DGCR6. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus."
    Edelmann L., Stankiewicz P., Spiteri E., Pandita R.K., Shaffer L., Lupski J., Morrow B.E.
    Genome Res. 11:208-217(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
    Tissue: Fetal spleen.
  2. "Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes."
    Pfuhl T., Duerr M., Spurk A., Schwalbert B., Nord R., Mysliwietz J., Kremmer E., Graesser F.A.
    Hum. Genet. 117:70-80(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, PHOSPHORYLATION.
    Tissue: Fetal brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hippocampus.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.

Entry informationi

Entry nameiDGC6L_HUMAN
AccessioniPrimary (citable) accession number: Q9BY27
Secondary accession number(s): A8K1N7
, B3KMC0, D3DX29, Q9BW33
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: July 26, 2002
Last modified: July 6, 2016
This is version 110 of the entry and version 2 of the sequence. [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. 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.