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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
Complete GO annotation...

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

HGNCiHGNC:29478. ROGDI.

Subcellular locationi

GO - Cellular componenti

  • intracellular Source: LIFEdb
  • nuclear envelope Source: HGNC
Complete GO annotation...

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

MalaCardsiROGDI.
MIMi226750. phenotype.
Orphaneti1946. Amelo-cerebro-hypohidrotic syndrome.
PharmGKBiPA143485597.

Polymorphism and mutation databases

BioMutaiROGDI.
DMDMi74733500.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 287286Protein rogdi homologPRO_0000315664Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9GZN7.
MaxQBiQ9GZN7.
PaxDbiQ9GZN7.
PeptideAtlasiQ9GZN7.
PRIDEiQ9GZN7.

PTM databases

iPTMnetiQ9GZN7.
PhosphoSiteiQ9GZN7.

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

BgeeiQ9GZN7.
CleanExiHS_ROGDI.
ExpressionAtlasiQ9GZN7. baseline and differential.
GenevisibleiQ9GZN7. HS.

Organism-specific databases

HPAiHPA041000.

Interactioni

Protein-protein interaction databases

BioGridi122769. 12 interactions.
IntActiQ9GZN7. 6 interactions.
MINTiMINT-1386701.

Structurei

3D structure databases

ProteinModelPortaliQ9GZN7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the rogdi family.Curated

Phylogenomic databases

eggNOGiKOG3992. Eukaryota.
ENOG410Y6JZ. LUCA.
GeneTreeiENSGT00390000007164.
HOGENOMiHOG000008516.
HOVERGENiHBG087014.
InParanoidiQ9GZN7.
OMAiTKNFKPA.
OrthoDBiEOG7KWSJ2.
PhylomeDBiQ9GZN7.
TreeFamiTF105859.

Family and domain databases

InterProiIPR028241. RAVE2/Rogdi.
[Graphical view]
PANTHERiPTHR13618:SF1. PTHR13618:SF1. 1 hit.
PfamiPF10259. Rogdi_lz. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti203 – 2031V → A in CAG33636 (Ref. 3) Curated
Sequence conflicti265 – 2651L → P in CAG33636 (Ref. 3) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591E → K.
Corresponds to variant rs2305659 [ dbSNP | Ensembl ].
VAR_038273

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9GZN7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122769. 12 interactions.
IntActiQ9GZN7. 6 interactions.
MINTiMINT-1386701.

PTM databases

iPTMnetiQ9GZN7.
PhosphoSiteiQ9GZN7.

Polymorphism and mutation databases

BioMutaiROGDI.
DMDMi74733500.

Proteomic databases

EPDiQ9GZN7.
MaxQBiQ9GZN7.
PaxDbiQ9GZN7.
PeptideAtlasiQ9GZN7.
PRIDEiQ9GZN7.

Protocols and materials databases

DNASUi79641.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79641.
GeneCardsiROGDI.
HGNCiHGNC:29478. ROGDI.
HPAiHPA041000.
MalaCardsiROGDI.
MIMi226750. phenotype.
614574. gene.
neXtProtiNX_Q9GZN7.
Orphaneti1946. Amelo-cerebro-hypohidrotic syndrome.
PharmGKBiPA143485597.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3992. Eukaryota.
ENOG410Y6JZ. LUCA.
GeneTreeiENSGT00390000007164.
HOGENOMiHOG000008516.
HOVERGENiHBG087014.
InParanoidiQ9GZN7.
OMAiTKNFKPA.
OrthoDBiEOG7KWSJ2.
PhylomeDBiQ9GZN7.
TreeFamiTF105859.

Miscellaneous databases

GenomeRNAii79641.
PROiQ9GZN7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9GZN7.
CleanExiHS_ROGDI.
ExpressionAtlasiQ9GZN7. baseline and differential.
GenevisibleiQ9GZN7. HS.

Family and domain databases

InterProiIPR028241. RAVE2/Rogdi.
[Graphical view]
PANTHERiPTHR13618:SF1. PTHR13618:SF1. 1 hit.
PfamiPF10259. Rogdi_lz. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. "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].
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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: Ovary.
  6. Cited for: INVOLVEMENT IN KTZS.
  7. "A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome."
    Mory A., Dagan E., Illi B., Duquesnoy P., Mordechai S., Shahor I., Romani S., Hawash-Moustafa N., Mandel H., Valente E.M., Amselem S., Gershoni-Baruch R.
    Am. J. Hum. Genet. 90:708-714(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN KTZS, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiROGDI_HUMAN
AccessioniPrimary (citable) accession number: Q9GZN7
Secondary accession number(s): Q6IA00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2001
Last modified: July 6, 2016
This is version 106 of the entry and version 1 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 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. 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.