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Protein

Protein rogdi homolog

Gene

ROGDI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May act as a positive regulator of cell proliferation.By similarity

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.

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

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

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.

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

Protein-protein interaction databases

BioGridi122769. 12 interactors.
IntActiQ9GZN7. 7 interactors.
MINTiMINT-1386701.

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XQHX-ray2.04A11-276[»]
5XQIX-ray2.80A/B/C/D1-287[»]
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:rs2305659Ensembl.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: November 22, 2017
This is version 115 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