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Protein

DDRGK domain-containing protein 1

Gene

DDRGK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription (PubMed:25219498). May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIB, the inhibitor of NF-kappa-B (PubMed:23675531). May also play a role in the cellular response to endoplasmic reticulum stress (By similarity).By similarity2 Publications

GO - Molecular functioni

  • ubiquitin-like protein ligase binding Source: UniProtKB

GO - Biological processi

  • positive regulation of I-kappaB phosphorylation Source: UniProtKB
  • positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
  • positive regulation of proteasomal protein catabolic process Source: UniProtKB
  • protein K69-linked ufmylation Source: UniProtKB
  • regulation of intracellular estrogen receptor signaling pathway Source: UniProtKB
  • response to endoplasmic reticulum stress Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33762-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
DDRGK domain-containing protein 1Curated
Alternative name(s):
Dashurin1 Publication
UFM1-binding and PCI domain-containing protein 1Curated
Gene namesi
Name:DDRGK1Imported
Synonyms:C20orf116Imported, UFBP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16110. DDRGK1.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi116K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi121K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi124K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi128K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi193K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi224K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi227K → R: Weak or no effect on ufmylation. 1 Publication1
Mutagenesisi267K → R: Impairs ufmylation. Impairs interaction with UFL1. 2 Publications1

Organism-specific databases

DisGeNETi65992.
OpenTargetsiENSG00000198171.
PharmGKBiPA164718734.

Polymorphism and mutation databases

BioMutaiDDRGK1.
DMDMi37077728.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000002103329 – 314DDRGK domain-containing protein 1Add BLAST286

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei72PhosphoserineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Cross-linki267Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in UFM1)1 Publication

Post-translational modificationi

Ubiquitinated. Ubiquitination probably triggers proteasomal degradation and is negatively regulated by UFL1, the enzyme involved in the ufmylation of DDRGK1.1 Publication
Ufmylated. Conjugated to ubiquitin-like protein UFM1, probably at Lys-267 by UFL1.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96HY6.
MaxQBiQ96HY6.
PaxDbiQ96HY6.
PeptideAtlasiQ96HY6.
PRIDEiQ96HY6.

PTM databases

iPTMnetiQ96HY6.
PhosphoSitePlusiQ96HY6.

Expressioni

Tissue specificityi

Widely expressed (at protein level). In the brain, highest levels in medulla oblongata, followed by cerebral cortex, cerebellum and frontal lobe.2 Publications

Gene expression databases

BgeeiENSG00000198171.
CleanExiHS_DDRGK1.
ExpressionAtlasiQ96HY6. baseline and differential.
GenevisibleiQ96HY6. HS.

Organism-specific databases

HPAiHPA013373.

Interactioni

Subunit structurei

Interacts with TRIP4; the interaction with TRIP4 is direct (PubMed:25219498). Interacts with UFL1 (PubMed:25219498). Interacts with NFKBIB (PubMed:23675531). Interacts with CDK5RAP3 (PubMed:20228063).3 Publications

GO - Molecular functioni

  • ubiquitin-like protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi122441. 32 interactors.
IntActiQ96HY6. 6 interactors.
STRINGi9606.ENSP00000346483.

Structurei

3D structure databases

ProteinModelPortaliQ96HY6.
SMRiQ96HY6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini229 – 273PCIAdd BLAST45

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 114Mediates interaction with CDK5RAP31 PublicationAdd BLAST114
Regioni118 – 216Mediates interaction with TRIP41 PublicationAdd BLAST99
Regioni216 – 314Mediates interaction with UFL11 PublicationAdd BLAST99

Sequence similaritiesi

Belongs to the DDRGK1 family.Curated
Contains 1 PCI domain.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3054. Eukaryota.
ENOG4111IPW. LUCA.
GeneTreeiENSGT00390000017193.
HOGENOMiHOG000005758.
HOVERGENiHBG051191.
InParanoidiQ96HY6.
OMAiEERGAGM.
OrthoDBiEOG091G0SU6.
PhylomeDBiQ96HY6.
TreeFamiTF314645.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR019153. DDRGK_dom-contain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF09756. DDRGK. 1 hit.
[Graphical view]
SMARTiSM01128. DDRGK. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q96HY6-1) [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
MVAPVWYLVA AALLVGFILF LTRSRGRAAS AGQEPLHNEE LAGAGRVAQP
60 70 80 90 100
GPLEPEEPRA GGRPRRRRDL GSRLQAQRRA QRVAWAEADE NEEEAVILAQ
110 120 130 140 150
EEEGVEKPAE THLSGKIGAK KLRKLEEKQA RKAQREAEEA EREERKRLES
160 170 180 190 200
QREAEWKKEE ERLRLEEEQK EEEERKAREE QAQREHEEYL KLKEAFVVEE
210 220 230 240 250
EGVGETMTEE QSQSFLTEFI NYIKQSKVVL LEDLASQVGL RTQDTINRIQ
260 270 280 290 300
DLLAEGTITG VIDDRGKFIY ITPEELAAVA NFIRQRGRVS IAELAQASNS
310
LIAWGRESPA QAPA
Length:314
Mass (Da):35,611
Last modified:September 26, 2003 - v2
Checksum:i2190D30B0D6D674A
GO
Isoform 2 (identifier: Q96HY6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     244-299: DTINRIQDLL...SIAELAQASN → VSPGTWPAVC...SPGTLGILHF

Show »
Length:313
Mass (Da):35,475
Checksum:i74054100E216036A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016923303A → T.1 PublicationCorresponds to variant rs11591dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008391244 – 299DTINR…AQASN → VSPGTWPAVCSVARGLWLAE RTCPKDRVLMHRLPCPQPRV SSAQKSPGTLGILHF in isoform 2. CuratedAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121891 Genomic DNA. Translation: CAD55939.1.
AL121891 Genomic DNA. Translation: CAD55940.1.
CH471133 Genomic DNA. Translation: EAX10544.1.
BC000643 mRNA. Translation: AAH00643.1.
BC007957 mRNA. Translation: AAH07957.1.
BC011851 mRNA. Translation: AAH11851.1.
CCDSiCCDS13050.1. [Q96HY6-1]
RefSeqiNP_076424.1. NM_023935.2. [Q96HY6-1]
UniGeneiHs.471975.

Genome annotation databases

EnsembliENST00000354488; ENSP00000346483; ENSG00000198171. [Q96HY6-1]
GeneIDi65992.
KEGGihsa:65992.
UCSCiuc002wic.4. human. [Q96HY6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121891 Genomic DNA. Translation: CAD55939.1.
AL121891 Genomic DNA. Translation: CAD55940.1.
CH471133 Genomic DNA. Translation: EAX10544.1.
BC000643 mRNA. Translation: AAH00643.1.
BC007957 mRNA. Translation: AAH07957.1.
BC011851 mRNA. Translation: AAH11851.1.
CCDSiCCDS13050.1. [Q96HY6-1]
RefSeqiNP_076424.1. NM_023935.2. [Q96HY6-1]
UniGeneiHs.471975.

3D structure databases

ProteinModelPortaliQ96HY6.
SMRiQ96HY6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122441. 32 interactors.
IntActiQ96HY6. 6 interactors.
STRINGi9606.ENSP00000346483.

PTM databases

iPTMnetiQ96HY6.
PhosphoSitePlusiQ96HY6.

Polymorphism and mutation databases

BioMutaiDDRGK1.
DMDMi37077728.

Proteomic databases

EPDiQ96HY6.
MaxQBiQ96HY6.
PaxDbiQ96HY6.
PeptideAtlasiQ96HY6.
PRIDEiQ96HY6.

Protocols and materials databases

DNASUi65992.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354488; ENSP00000346483; ENSG00000198171. [Q96HY6-1]
GeneIDi65992.
KEGGihsa:65992.
UCSCiuc002wic.4. human. [Q96HY6-1]

Organism-specific databases

CTDi65992.
DisGeNETi65992.
GeneCardsiDDRGK1.
HGNCiHGNC:16110. DDRGK1.
HPAiHPA013373.
MIMi616177. gene.
neXtProtiNX_Q96HY6.
OpenTargetsiENSG00000198171.
PharmGKBiPA164718734.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3054. Eukaryota.
ENOG4111IPW. LUCA.
GeneTreeiENSGT00390000017193.
HOGENOMiHOG000005758.
HOVERGENiHBG051191.
InParanoidiQ96HY6.
OMAiEERGAGM.
OrthoDBiEOG091G0SU6.
PhylomeDBiQ96HY6.
TreeFamiTF314645.

Enzyme and pathway databases

BioCyciZFISH:G66-33762-MONOMER.

Miscellaneous databases

ChiTaRSiDDRGK1. human.
GenomeRNAii65992.
PROiQ96HY6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198171.
CleanExiHS_DDRGK1.
ExpressionAtlasiQ96HY6. baseline and differential.
GenevisibleiQ96HY6. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR019153. DDRGK_dom-contain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF09756. DDRGK. 1 hit.
[Graphical view]
SMARTiSM01128. DDRGK. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDDRGK_HUMAN
AccessioniPrimary (citable) accession number: Q96HY6
Secondary accession number(s): A6NIU5, C9JSZ5, Q9BW47
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: November 30, 2016
This is version 130 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 20
    Human chromosome 20: 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.