ROGDI_HUMAN
ID ROGDI_HUMAN Reviewed; 287 AA.
AC Q9GZN7; Q6IA00;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Protein rogdi homolog;
GN Name=ROGDI;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INVOLVEMENT IN KTZS.
RX PubMed=22424600; DOI=10.1016/j.ajhg.2012.02.012;
RA Schossig A., Wolf N.I., Fischer C., Fischer M., Stocker G., Pabinger S.,
RA Dander A., Steiner B., Tonz O., Kotzot D., Haberlandt E., Amberger A.,
RA Burwinkel B., Wimmer K., Fauth C., Grond-Ginsbach C., Koch M.J.,
RA Deichmann A., von Kalle C., Bartram C.R., Kohlschutter A., Trajanoski Z.,
RA Zschocke J.;
RT "Mutations in ROGDI cause Kohlschutter-Tonz syndrome.";
RL Am. J. Hum. Genet. 90:701-707(2012).
RN [7]
RP VARIANT KTZS 157-ARG--PHE-287 DEL, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=22482807; DOI=10.1016/j.ajhg.2012.03.005;
RA Mory A., Dagan E., Illi B., Duquesnoy P., Mordechai S., Shahor I.,
RA Romani S., Hawash-Moustafa N., Mandel H., Valente E.M., Amselem S.,
RA Gershoni-Baruch R.;
RT "A nonsense mutation in the human homolog of Drosophila rogdi causes
RT Kohlschutter-Tonz syndrome.";
RL Am. J. Hum. Genet. 90:708-714(2012).
RN [8]
RP VARIANT KTZS 16-GLU--LEU-34 DEL.
RX PubMed=25565929; DOI=10.1159/000366252;
RA Huckert M., Mecili H., Laugel-Haushalter V., Stoetzel C., Muller J.,
RA Flori E., Laugel V., Maniere M.C., Dollfus H., Bloch-Zupan A.;
RT "A Novel Mutation in the ROGDI Gene in a Patient with Kohlschuetter-Toenz
RT Syndrome.";
RL Mol. Syndromol. 5:293-298(2014).
RN [9]
RP VARIANT KTZS 134-TYR--PHE-287 DEL.
RX PubMed=29153277; DOI=10.1016/j.oooo.2017.09.016;
RA Aswath N., Ramakrishnan S.N., Teresa N., Ramanathan A.;
RT "A novel ROGDI gene mutation is associated with Kohlschutter-Tonz
RT syndrome.";
RL Oral Surg. Oral Med. Oral Pathol. Oral Radiol. 125:e8-e11(2018).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11] {ECO:0007744|PDB:5XQH, ECO:0007744|PDB:5XQI}
RP X-RAY CRYSTALLOGRAPHY (2.04 ANGSTROMS) OF 11-276, SUBUNIT, AND MUTAGENESIS
RP OF PHE-261 AND LEU-271.
RX PubMed=28638151; DOI=10.1038/s41598-017-04120-x;
RA Lee H., Jeong H., Choe J., Jun Y., Lim C., Lee C.;
RT "The crystal structure of human Rogdi provides insight into the causes of
RT Kohlschutter-Tonz Syndrome.";
RL Sci. Rep. 7:3972-3972(2017).
CC -!- SUBUNIT: Monomer. {ECO:0000269|PubMed:28638151}.
CC -!- INTERACTION:
CC Q9GZN7; Q96MT8-3: CEP63; NbExp=3; IntAct=EBI-713255, EBI-11522539;
CC -!- SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:22482807}.
CC Presynapse {ECO:0000250|UniProtKB:Q4V7D2}. Cell projection, axon
CC {ECO:0000250|UniProtKB:Q4V7D2}. Perikaryon
CC {ECO:0000250|UniProtKB:Q4V7D2}. Cell projection, dendrite
CC {ECO:0000250|UniProtKB:Q4V7D2}. Cytoplasmic vesicle, secretory vesicle,
CC synaptic vesicle {ECO:0000250|UniProtKB:Q4V7D2}. Note=Detected
CC primarily at presynaptic sites on axons, and to a lesser degree in soma
CC and dendrites. Not detected at post-synaptic sites.
CC {ECO:0000250|UniProtKB:Q4V7D2}.
CC -!- TISSUE SPECIFICITY: Widely expressed with highest levels in spinal
CC cord, brain, heart and bone marrow. Also expressed in fetal brain and
CC liver. {ECO:0000269|PubMed:22482807}.
CC -!- DISEASE: Kohlschuetter-Toenz syndrome (KTZS) [MIM:226750]: An autosomal
CC recessive disorder characterized by severe global developmental delay,
CC early-onset intractable seizures, spasticity, and amelogenesis
CC imperfecta affecting both primary and secondary teeth and causing
CC yellow or brown discoloration of the teeth. Although the phenotype is
CC consistent, there is variability. Intellectual disability is related to
CC the severity of seizures, and the disorder can thus be considered an
CC epileptic encephalopathy. Some infants show normal development until
CC seizure onset, whereas others are delayed from birth. The most severely
CC affected individuals have profound intellectual disability, never
CC acquire speech, and become bedridden early in life.
CC {ECO:0000269|PubMed:22424600, ECO:0000269|PubMed:22482807,
CC ECO:0000269|PubMed:25565929, ECO:0000269|PubMed:29153277}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the rogdi family. {ECO:0000305}.
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DR EMBL; AL136675; CAB66610.1; -; mRNA.
DR EMBL; AK026039; BAB15331.1; -; mRNA.
DR EMBL; CR457355; CAG33636.1; -; mRNA.
DR EMBL; CR533547; CAG38578.1; -; mRNA.
DR EMBL; CH471112; EAW85260.1; -; Genomic_DNA.
DR EMBL; BC012901; AAH12901.1; -; mRNA.
DR CCDS; CCDS10523.1; -.
DR RefSeq; NP_078865.1; NM_024589.2.
DR PDB; 5XQH; X-ray; 2.04 A; A=11-276.
DR PDB; 5XQI; X-ray; 2.80 A; A/B/C/D=1-287.
DR PDBsum; 5XQH; -.
DR PDBsum; 5XQI; -.
DR AlphaFoldDB; Q9GZN7; -.
DR SMR; Q9GZN7; -.
DR BioGRID; 122769; 25.
DR IntAct; Q9GZN7; 15.
DR STRING; 9606.ENSP00000322832; -.
DR iPTMnet; Q9GZN7; -.
DR PhosphoSitePlus; Q9GZN7; -.
DR BioMuta; ROGDI; -.
DR DMDM; 74733500; -.
DR EPD; Q9GZN7; -.
DR jPOST; Q9GZN7; -.
DR MassIVE; Q9GZN7; -.
DR MaxQB; Q9GZN7; -.
DR PaxDb; Q9GZN7; -.
DR PeptideAtlas; Q9GZN7; -.
DR PRIDE; Q9GZN7; -.
DR ProteomicsDB; 80099; -.
DR Antibodypedia; 42735; 79 antibodies from 19 providers.
DR DNASU; 79641; -.
DR Ensembl; ENST00000322048.12; ENSP00000322832.6; ENSG00000067836.13.
DR GeneID; 79641; -.
DR KEGG; hsa:79641; -.
DR MANE-Select; ENST00000322048.12; ENSP00000322832.6; NM_024589.3; NP_078865.1.
DR UCSC; uc002cxv.5; human.
DR CTD; 79641; -.
DR DisGeNET; 79641; -.
DR GeneCards; ROGDI; -.
DR HGNC; HGNC:29478; ROGDI.
DR HPA; ENSG00000067836; Tissue enhanced (brain).
DR MalaCards; ROGDI; -.
DR MIM; 226750; phenotype.
DR MIM; 614574; gene.
DR neXtProt; NX_Q9GZN7; -.
DR OpenTargets; ENSG00000067836; -.
DR Orphanet; 1946; Amelocerebrohypohidrotic syndrome.
DR PharmGKB; PA143485597; -.
DR VEuPathDB; HostDB:ENSG00000067836; -.
DR eggNOG; KOG3992; Eukaryota.
DR GeneTree; ENSGT00390000007164; -.
DR HOGENOM; CLU_062094_0_1_1; -.
DR InParanoid; Q9GZN7; -.
DR OMA; NILMECA; -.
DR OrthoDB; 1051737at2759; -.
DR PhylomeDB; Q9GZN7; -.
DR TreeFam; TF105859; -.
DR PathwayCommons; Q9GZN7; -.
DR SignaLink; Q9GZN7; -.
DR BioGRID-ORCS; 79641; 15 hits in 1081 CRISPR screens.
DR GenomeRNAi; 79641; -.
DR Pharos; Q9GZN7; Tbio.
DR PRO; PR:Q9GZN7; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9GZN7; protein.
DR Bgee; ENSG00000067836; Expressed in right hemisphere of cerebellum and 174 other tissues.
DR ExpressionAtlas; Q9GZN7; baseline and differential.
DR Genevisible; Q9GZN7; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0030424; C:axon; IEA:UniProtKB-SubCell.
DR GO; GO:0030425; C:dendrite; IEA:UniProtKB-SubCell.
DR GO; GO:0005635; C:nuclear envelope; IDA:HGNC.
DR GO; GO:0043204; C:perikaryon; IEA:UniProtKB-SubCell.
DR GO; GO:0043291; C:RAVE complex; IBA:GO_Central.
DR GO; GO:0008021; C:synaptic vesicle; IEA:UniProtKB-SubCell.
DR GO; GO:0007420; P:brain development; IMP:HGNC.
DR GO; GO:0030097; P:hemopoiesis; IEA:Ensembl.
DR GO; GO:0022008; P:neurogenesis; IMP:HGNC.
DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IMP:HGNC.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IEA:Ensembl.
DR DisProt; DP02747; -.
DR InterPro; IPR028241; RAVE2/Rogdi.
DR PANTHER; PTHR13618; PTHR13618; 1.
DR Pfam; PF10259; Rogdi_lz; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Amelogenesis imperfecta; Cell projection;
KW Cytoplasmic vesicle; Epilepsy; Nucleus; Reference proteome; Synapse.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..287
FT /note="Protein rogdi homolog"
FT /id="PRO_0000315664"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VARIANT 16..39
FT /note="Missing (in KTZS; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:25565929"
FT /id="VAR_084016"
FT VARIANT 59
FT /note="E -> K (in dbSNP:rs2305659)"
FT /id="VAR_038273"
FT VARIANT 134..287
FT /note="Missing (in KTZS; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:29153277"
FT /id="VAR_084017"
FT VARIANT 157..287
FT /note="Missing (in KTZS)"
FT /evidence="ECO:0000269|PubMed:22482807"
FT /id="VAR_084018"
FT MUTAGEN 261
FT /note="F->A: Decreased protein stability."
FT /evidence="ECO:0000269|PubMed:28638151"
FT MUTAGEN 271
FT /note="L->A: Decreased protein stability."
FT /evidence="ECO:0000269|PubMed:28638151"
FT CONFLICT 203
FT /note="V -> A (in Ref. 3; CAG33636)"
FT /evidence="ECO:0000305"
FT CONFLICT 265
FT /note="L -> P (in Ref. 3; CAG33636)"
FT /evidence="ECO:0000305"
FT HELIX 2..6
FT /evidence="ECO:0007829|PDB:5XQI"
FT HELIX 26..45
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 60..63
FT /evidence="ECO:0007829|PDB:5XQH"
FT TURN 66..68
FT /evidence="ECO:0007829|PDB:5XQI"
FT STRAND 71..78
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 81..89
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 98..102
FT /evidence="ECO:0007829|PDB:5XQH"
FT HELIX 111..128
FT /evidence="ECO:0007829|PDB:5XQH"
FT HELIX 140..161
FT /evidence="ECO:0007829|PDB:5XQH"
FT HELIX 168..173
FT /evidence="ECO:0007829|PDB:5XQH"
FT HELIX 177..179
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 180..182
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 188..195
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 198..208
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 223..225
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 231..234
FT /evidence="ECO:0007829|PDB:5XQH"
FT STRAND 237..250
FT /evidence="ECO:0007829|PDB:5XQH"
FT HELIX 252..273
FT /evidence="ECO:0007829|PDB:5XQH"
SQ SEQUENCE 287 AA; 32254 MW; E14BB4043E01A5D4 CRC64;
MATVMAATAA ERAVLEEEFR WLLHDEVHAV LKQLQDILKE ASLRFTLPGS GTEGPAKQEN
FILGSCGTDQ VKGVLTLQGD ALSQADVNLK MPRNNQLLHF AFREDKQWKL QQIQDARNHV
SQAIYLLTSR DQSYQFKTGA EVLKLMDAVM LQLTRARNRL TTPATLTLPE IAASGLTRMF
APALPSDLLV NVYINLNKLC LTVYQLHALQ PNSTKNFRPA GGAVLHSPGA MFEWGSQRLE
VSHVHKVECV IPWLNDALVY FTVSLQLCQQ LKDKISVFSS YWSYRPF
