ODAPH_HUMAN
ID ODAPH_HUMAN Reviewed; 130 AA.
AC Q17RF5; B4DTI3; E7ETQ0; Q8TEC3;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-JUL-2006, sequence version 1.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Odontogenesis associated phosphoprotein {ECO:0000312|HGNC:HGNC:26300};
DE Flags: Precursor;
GN Name=ODAPH {ECO:0000312|HGNC:HGNC:26300}; Synonyms=C4orf26;
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] (ISOFORMS 1 AND 2), AND VARIANT
RP LEU-30.
RC TISSUE=Colon mucosa, and Placenta;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [5]
RP INVOLVEMENT IN AI2A4, FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=22901946; DOI=10.1016/j.ajhg.2012.07.020;
RA Parry D.A., Brookes S.J., Logan C.V., Poulter J.A., El-Sayed W.,
RA Al-Bahlani S., Al Harasi S., Sayed J., Raif el M., Shore R.C., Dashash M.,
RA Barron M., Morgan J.E., Carr I.M., Taylor G.R., Johnson C.A., Aldred M.J.,
RA Dixon M.J., Wright J.T., Kirkham J., Inglehearn C.F., Mighell A.J.;
RT "Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite
RT crystal nucleation and growth activity, cause amelogenesis imperfecta.";
RL Am. J. Hum. Genet. 91:565-571(2012).
RN [6]
RP INVOLVEMENT IN AI2A4.
RX PubMed=27558265; DOI=10.1177/0022034516663200;
RA Prasad M.K., Laouina S., El Alloussi M., Dollfus H., Bloch-Zupan A.;
RT "Amelogenesis Imperfecta: 1 family, 2 phenotypes, and 2 mutated Genes.";
RL J. Dent. Res. 95:1457-1463(2016).
CC -!- FUNCTION: May promote nucleation of hydroxyapatite.
CC {ECO:0000269|PubMed:22901946}.
CC -!- INTERACTION:
CC Q17RF5; P80188: LCN2; NbExp=3; IntAct=EBI-10239029, EBI-11911016;
CC Q17RF5; Q99750: MDFI; NbExp=6; IntAct=EBI-10239029, EBI-724076;
CC Q17RF5; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-10239029, EBI-947187;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q17RF5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q17RF5-2; Sequence=VSP_046356;
CC -!- TISSUE SPECIFICITY: Highly expressed in placenta.
CC {ECO:0000269|PubMed:22901946}.
CC -!- DISEASE: Amelogenesis imperfecta, hypomaturation type, 2A4 (AI2A4)
CC [MIM:614832]: A defect of enamel formation. The disorder involves both
CC primary and secondary dentitions. The teeth have a shiny agar jelly
CC appearance and the enamel is softer than normal. Brown pigment is
CC present in middle layers of enamel. {ECO:0000269|PubMed:22901946,
CC ECO:0000269|PubMed:27558265}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AK074237; BAB85027.1; -; mRNA.
DR EMBL; AK172776; BAD18758.1; -; mRNA.
DR EMBL; AK300227; BAG61995.1; -; mRNA.
DR EMBL; AC096759; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX05738.1; -; Genomic_DNA.
DR EMBL; BC117342; AAI17343.1; -; mRNA.
DR CCDS; CCDS3569.1; -. [Q17RF5-1]
DR CCDS; CCDS56334.1; -. [Q17RF5-2]
DR RefSeq; NP_001193910.1; NM_001206981.1. [Q17RF5-2]
DR RefSeq; NP_001244001.1; NM_001257072.1.
DR RefSeq; NP_848592.2; NM_178497.3. [Q17RF5-1]
DR RefSeq; XP_011529970.1; XM_011531668.2. [Q17RF5-2]
DR AlphaFoldDB; Q17RF5; -.
DR BioGRID; 127467; 56.
DR IntAct; Q17RF5; 40.
DR STRING; 9606.ENSP00000406925; -.
DR iPTMnet; Q17RF5; -.
DR PhosphoSitePlus; Q17RF5; -.
DR BioMuta; ODAPH; -.
DR PaxDb; Q17RF5; -.
DR PeptideAtlas; Q17RF5; -.
DR PRIDE; Q17RF5; -.
DR Antibodypedia; 68337; 35 antibodies from 9 providers.
DR DNASU; 152816; -.
DR Ensembl; ENST00000311623.9; ENSP00000311307.5; ENSG00000174792.11. [Q17RF5-1]
DR Ensembl; ENST00000435974.2; ENSP00000406925.2; ENSG00000174792.11. [Q17RF5-2]
DR GeneID; 152816; -.
DR KEGG; hsa:152816; -.
DR MANE-Select; ENST00000311623.9; ENSP00000311307.5; NM_178497.5; NP_848592.2.
DR UCSC; uc003hip.3; human. [Q17RF5-1]
DR CTD; 152816; -.
DR DisGeNET; 152816; -.
DR GeneCards; ODAPH; -.
DR HGNC; HGNC:26300; ODAPH.
DR HPA; ENSG00000174792; Group enriched (brain, placenta).
DR MalaCards; ODAPH; -.
DR MIM; 614829; gene.
DR MIM; 614832; phenotype.
DR neXtProt; NX_Q17RF5; -.
DR OpenTargets; ENSG00000174792; -.
DR Orphanet; 100033; Hypomaturation amelogenesis imperfecta.
DR PharmGKB; PA145008917; -.
DR VEuPathDB; HostDB:ENSG00000174792; -.
DR eggNOG; ENOG502TDW0; Eukaryota.
DR GeneTree; ENSGT00390000005348; -.
DR HOGENOM; CLU_157665_0_0_1; -.
DR InParanoid; Q17RF5; -.
DR OMA; RVHIRFP; -.
DR OrthoDB; 1284613at2759; -.
DR PhylomeDB; Q17RF5; -.
DR PathwayCommons; Q17RF5; -.
DR SignaLink; Q17RF5; -.
DR BioGRID-ORCS; 152816; 7 hits in 1047 CRISPR screens.
DR ChiTaRS; C4orf26; human.
DR GenomeRNAi; 152816; -.
DR Pharos; Q17RF5; Tbio.
DR PRO; PR:Q17RF5; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q17RF5; protein.
DR Bgee; ENSG00000174792; Expressed in placenta and 100 other tissues.
DR ExpressionAtlas; Q17RF5; baseline and differential.
DR Genevisible; Q17RF5; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0070169; P:positive regulation of biomineral tissue development; IMP:UniProtKB.
DR GO; GO:0070175; P:positive regulation of enamel mineralization; IMP:UniProtKB.
DR InterPro; IPR031706; ODAPH.
DR PANTHER; PTHR40376; PTHR40376; 1.
DR Pfam; PF15848; ODAPH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Amelogenesis imperfecta; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..130
FT /note="Odontogenesis associated phosphoprotein"
FT /id="PRO_0000301959"
FT VAR_SEQ 23..130
FT /note="GQEEVFTPPGDSQNNADATDCQIFTLTPPPAPRSPVTRAQPITKTPRCPFHF
FT FPRRPRIHFRFPNRPFVPSRCNHRFPFQPFYWPHRYLTYRYFPRRRLQRGSSSEES ->
FT ALSTFYLQQHINLHMDKKRYLRLLEIHKIMRTLPTARSLHSPLHLPRGVRSQGPSPSQR
FT HPGVPSIFFHEGPESILGFQTDLSSLQGVTTVFHSSHFIGHTVTLLIGISPEEDSREEA
FT HLRKAEREEKPKHTEAKKSLSFRKKQQKDFCFIFRN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046356"
FT VARIANT 30
FT /note="P -> L (in dbSNP:rs2306175)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_034915"
FT VARIANT 109
FT /note="R -> H (in dbSNP:rs2306174)"
FT /id="VAR_034916"
FT CONFLICT Q17RF5-2:45
FT /note="L -> F (in Ref. 1; BAG61995)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 130 AA; 15556 MW; 5E0FDD63FB5F2C75 CRC64;
MARRHCFSYW LLVCWLVVTV AEGQEEVFTP PGDSQNNADA TDCQIFTLTP PPAPRSPVTR
AQPITKTPRC PFHFFPRRPR IHFRFPNRPF VPSRCNHRFP FQPFYWPHRY LTYRYFPRRR
LQRGSSSEES
