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Protein

Protein rogdi homolog

Gene

ROGDI

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

Functioni

GO - Biological processi

  • brain development Source: HGNC
  • hemopoiesis Source: Ensembl
  • neurogenesis Source: HGNC
  • odontogenesis of dentin-containing tooth Source: HGNC
  • positive regulation of cell proliferation Source: Ensembl

Names & Taxonomyi

Protein namesi
Recommended name:
Protein rogdi homolog
Gene namesi
Name:ROGDI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000067836.12
HGNCiHGNC:29478 ROGDI
MIMi614574 gene
neXtProtiNX_Q9GZN7

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

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Membrane, Nucleus, Synapse

Pathology & Biotechi

Involvement in diseasei

Kohlschuetter-Toenz syndrome (KTZS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life.
See also OMIM:226750

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi261F → A: Decreased protein stability. 1 Publication1
Mutagenesisi271L → A: Decreased protein stability. 1 Publication1

Keywords - Diseasei

Amelogenesis imperfecta, Epilepsy

Organism-specific databases

DisGeNETi79641
MalaCardsiROGDI
MIMi226750 phenotype
OpenTargetsiENSG00000067836
Orphaneti1946 Amelo-cerebro-hypohidrotic syndrome
PharmGKBiPA143485597

Polymorphism and mutation databases

BioMutaiROGDI
DMDMi74733500

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003156642 – 287Protein rogdi homologAdd BLAST286

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9GZN7
MaxQBiQ9GZN7
PaxDbiQ9GZN7
PeptideAtlasiQ9GZN7
PRIDEiQ9GZN7
ProteomicsDBi80099

PTM databases

iPTMnetiQ9GZN7
PhosphoSitePlusiQ9GZN7

Expressioni

Tissue specificityi

Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver.1 Publication

Gene expression databases

BgeeiENSG00000067836
CleanExiHS_ROGDI
ExpressionAtlasiQ9GZN7 baseline and differential
GenevisibleiQ9GZN7 HS

Organism-specific databases

HPAiHPA041000

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi122769, 12 interactors
IntActiQ9GZN7, 7 interactors

Structurei

Secondary structure

1287
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi2 – 6Combined sources5
Helixi26 – 45Combined sources20
Beta strandi60 – 63Combined sources4
Turni66 – 68Combined sources3
Beta strandi71 – 78Combined sources8
Beta strandi81 – 89Combined sources9
Beta strandi98 – 102Combined sources5
Helixi111 – 128Combined sources18
Helixi140 – 161Combined sources22
Helixi168 – 173Combined sources6
Helixi177 – 179Combined sources3
Beta strandi180 – 182Combined sources3
Beta strandi188 – 195Combined sources8
Beta strandi198 – 208Combined sources11
Beta strandi223 – 225Combined sources3
Beta strandi231 – 234Combined sources4
Beta strandi237 – 250Combined sources14
Helixi252 – 273Combined sources22

3D structure databases

ProteinModelPortaliQ9GZN7
SMRiQ9GZN7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the rogdi family.Curated

Phylogenomic databases

eggNOGiKOG3992 Eukaryota
ENOG410Y6JZ LUCA
GeneTreeiENSGT00390000007164
HOGENOMiHOG000008516
HOVERGENiHBG087014
InParanoidiQ9GZN7
OMAiCVFSQYK
OrthoDBiEOG091G0GOX
PhylomeDBiQ9GZN7
TreeFamiTF105859

Family and domain databases

InterProiView protein in InterPro
IPR028241 RAVE2/Rogdi
PANTHERiPTHR13618 PTHR13618, 1 hit
PfamiView protein in Pfam
PF10259 Rogdi_lz, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9GZN7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATVMAATAA ERAVLEEEFR WLLHDEVHAV LKQLQDILKE ASLRFTLPGS
60 70 80 90 100
GTEGPAKQEN FILGSCGTDQ VKGVLTLQGD ALSQADVNLK MPRNNQLLHF
110 120 130 140 150
AFREDKQWKL QQIQDARNHV SQAIYLLTSR DQSYQFKTGA EVLKLMDAVM
160 170 180 190 200
LQLTRARNRL TTPATLTLPE IAASGLTRMF APALPSDLLV NVYINLNKLC
210 220 230 240 250
LTVYQLHALQ PNSTKNFRPA GGAVLHSPGA MFEWGSQRLE VSHVHKVECV
260 270 280
IPWLNDALVY FTVSLQLCQQ LKDKISVFSS YWSYRPF
Length:287
Mass (Da):32,254
Last modified:March 1, 2001 - v1
Checksum:iE14BB4043E01A5D4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti203V → A in CAG33636 (Ref. 3) Curated1
Sequence conflicti265L → P in CAG33636 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03827359E → K. Corresponds to variant dbSNP:rs2305659EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136675 mRNA Translation: CAB66610.1
AK026039 mRNA Translation: BAB15331.1
CR457355 mRNA Translation: CAG33636.1
CR533547 mRNA Translation: CAG38578.1
CH471112 Genomic DNA Translation: EAW85260.1
BC012901 mRNA Translation: AAH12901.1
CCDSiCCDS10523.1
RefSeqiNP_078865.1, NM_024589.2
UniGeneiHs.459795

Genome annotation databases

EnsembliENST00000322048; ENSP00000322832; ENSG00000067836
GeneIDi79641
KEGGihsa:79641
UCSCiuc002cxv.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiROGDI_HUMAN
AccessioniPrimary (citable) accession number: Q9GZN7
Secondary accession number(s): Q6IA00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2001
Last modified: June 20, 2018
This is version 118 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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