TXD15_HUMAN
ID TXD15_HUMAN Reviewed; 360 AA.
AC Q96J42; D3DQA9; Q96MT2; Q9H639;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Thioredoxin domain-containing protein 15;
DE Flags: Precursor;
GN Name=TXNDC15; Synonyms=C5orf14; ORFNames=UNQ335/PRO534;
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] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Small intestine, and Teratocarcinoma;
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 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Kidney, and Pancreas;
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 GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-293.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [6]
RP VARIANT [LARGE SCALE ANALYSIS] PRO-248.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [7]
RP PROBABLE INVOLVEMENT IN MECKEL SYNDROME, AND FUNCTION.
RX PubMed=27894351; DOI=10.1186/s13059-016-1099-5;
RG Ciliopathy WorkingGroup;
RA Shaheen R., Szymanska K., Basu B., Patel N., Ewida N., Faqeih E.,
RA Al Hashem A., Derar N., Alsharif H., Aldahmesh M.A., Alazami A.M.,
RA Hashem M., Ibrahim N., Abdulwahab F.M., Sonbul R., Alkuraya H., Alnemer M.,
RA Al Tala S., Al-Husain M., Morsy H., Seidahmed M.Z., Meriki N., Al-Owain M.,
RA AlShahwan S., Tabarki B., Salih M.A., Faquih T., El-Kalioby M., Ueffing M.,
RA Boldt K., Logan C.V., Parry D.A., Al Tassan N., Monies D., Megarbane A.,
RA Abouelhoda M., Halees A., Johnson C.A., Alkuraya F.S.;
RT "Characterizing the morbid genome of ciliopathies.";
RL Genome Biol. 17:R242.1-R242.11(2016).
RN [8]
RP VARIANT PRO-212, AND PROBABLE INVOLVEMENT IN MECKEL SYNDROME.
RX PubMed=30851085; DOI=10.1002/mgg3.614;
RA Ridnoi K., Sois M., Vaidla E., Pajusalu S., Kelder L., Reimand T.,
RA Ounap K.;
RT "A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound
RT heterozygous pathogenic variants in the TXNDC15 gene.";
RL Mol. Genet. Genomic Med. 7:E614-E614(2019).
CC -!- FUNCTION: Acts as a positive regulator of ciliary hedgehog signaling
CC (By similarity). Involved in ciliogenesis (PubMed:27894351).
CC {ECO:0000250|UniProtKB:Q6P6J9, ECO:0000269|PubMed:27894351}.
CC -!- INTERACTION:
CC Q96J42; Q12797-6: ASPH; NbExp=3; IntAct=EBI-2908241, EBI-12092171;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC {ECO:0000250|UniProtKB:Q6P6J9}; Single-pass type I membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96J42-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96J42-2; Sequence=VSP_027129;
CC -!- DISEASE: Note=Defects in TXNDC15 may be involved in a form of Meckel
CC syndrome, a disorder characterized by a combination of renal cysts and
CC variably associated features including developmental anomalies of the
CC central nervous system (typically encephalocele), hepatic ductal
CC dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:27894351,
CC ECO:0000269|PubMed:30851085}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-13 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AY358649; AAQ89012.1; -; mRNA.
DR EMBL; AK026278; BAB15427.1; -; mRNA.
DR EMBL; AK056512; BAB71199.1; -; mRNA.
DR EMBL; CH471062; EAW62231.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW62233.1; -; Genomic_DNA.
DR EMBL; BC001615; AAH01615.1; -; mRNA.
DR EMBL; BC032568; AAH32568.1; -; mRNA.
DR CCDS; CCDS4180.1; -. [Q96J42-1]
DR RefSeq; NP_078991.3; NM_024715.3. [Q96J42-1]
DR AlphaFoldDB; Q96J42; -.
DR SMR; Q96J42; -.
DR BioGRID; 122874; 62.
DR IntAct; Q96J42; 36.
DR STRING; 9606.ENSP00000351157; -.
DR GlyConnect; 1801; 13 N-Linked glycans (2 sites).
DR GlyGen; Q96J42; 7 sites, 12 N-linked glycans (2 sites).
DR iPTMnet; Q96J42; -.
DR PhosphoSitePlus; Q96J42; -.
DR BioMuta; TXNDC15; -.
DR DMDM; 74732127; -.
DR EPD; Q96J42; -.
DR jPOST; Q96J42; -.
DR MassIVE; Q96J42; -.
DR MaxQB; Q96J42; -.
DR PaxDb; Q96J42; -.
DR PeptideAtlas; Q96J42; -.
DR PRIDE; Q96J42; -.
DR ProteomicsDB; 76884; -. [Q96J42-1]
DR ProteomicsDB; 76885; -. [Q96J42-2]
DR TopDownProteomics; Q96J42-1; -. [Q96J42-1]
DR Antibodypedia; 2125; 77 antibodies from 14 providers.
DR DNASU; 79770; -.
DR Ensembl; ENST00000358387.9; ENSP00000351157.5; ENSG00000113621.15. [Q96J42-1]
DR GeneID; 79770; -.
DR KEGG; hsa:79770; -.
DR MANE-Select; ENST00000358387.9; ENSP00000351157.5; NM_024715.4; NP_078991.3.
DR UCSC; uc003lac.2; human. [Q96J42-1]
DR CTD; 79770; -.
DR DisGeNET; 79770; -.
DR GeneCards; TXNDC15; -.
DR HGNC; HGNC:20652; TXNDC15.
DR HPA; ENSG00000113621; Low tissue specificity.
DR MalaCards; TXNDC15; -.
DR MIM; 617778; gene.
DR neXtProt; NX_Q96J42; -.
DR OpenTargets; ENSG00000113621; -.
DR Orphanet; 564; Meckel syndrome.
DR PharmGKB; PA162407473; -.
DR VEuPathDB; HostDB:ENSG00000113621; -.
DR eggNOG; KOG2640; Eukaryota.
DR GeneTree; ENSGT00390000002845; -.
DR HOGENOM; CLU_050221_0_0_1; -.
DR InParanoid; Q96J42; -.
DR OMA; TCEERNV; -.
DR PhylomeDB; Q96J42; -.
DR TreeFam; TF323528; -.
DR PathwayCommons; Q96J42; -.
DR SignaLink; Q96J42; -.
DR BioGRID-ORCS; 79770; 13 hits in 1079 CRISPR screens.
DR GenomeRNAi; 79770; -.
DR Pharos; Q96J42; Tdark.
DR PRO; PR:Q96J42; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96J42; protein.
DR Bgee; ENSG00000113621; Expressed in calcaneal tendon and 198 other tissues.
DR ExpressionAtlas; Q96J42; baseline and differential.
DR Genevisible; Q96J42; HS.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0045880; P:positive regulation of smoothened signaling pathway; ISS:UniProtKB.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR InterPro; IPR013766; Thioredoxin_domain.
DR InterPro; IPR042418; TXNDC15.
DR PANTHER; PTHR14684; PTHR14684; 1.
DR Pfam; PF00085; Thioredoxin; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
DR PROSITE; PS51352; THIOREDOXIN_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Disease variant; Glycoprotein;
KW Meckel syndrome; Membrane; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..32
FT /evidence="ECO:0000255"
FT CHAIN 33..360
FT /note="Thioredoxin domain-containing protein 15"
FT /id="PRO_0000296094"
FT TOPO_DOM 33..321
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 322..342
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 343..360
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 153..296
FT /note="Thioredoxin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00691"
FT REGION 141..173
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 187
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 194
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 206
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 293
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT VAR_SEQ 45..61
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027129"
FT VARIANT 212
FT /note="L -> P (found in a patient with Meckel syndrome;
FT unknown pathological significance; dbSNP:rs760579409)"
FT /evidence="ECO:0000269|PubMed:30851085"
FT /id="VAR_082162"
FT VARIANT 248
FT /note="S -> P (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036172"
FT CONFLICT 71
FT /note="Q -> R (in Ref. 2; BAB15427)"
FT /evidence="ECO:0000305"
FT CONFLICT 85
FT /note="D -> G (in Ref. 2; BAB71199)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 360 AA; 39885 MW; 708473B7238FCCF6 CRC64;
MVPAAGRRPP RVMRLLGWWQ VLLWVLGLPV RGVEVAEESG RLWSEEQPAH PLQVGAVYLG
EEELLHDPMG QDRAAEEANA VLGLDTQGDH MVMLSVIPGE AEDKVSSEPS GVTCGAGGAE
DSRCNVRESL FSLDGAGAHF PDREEEYYTE PEVAESDAAP TEDSNNTESL KSPKVNCEER
NITGLENFTL KILNMSQDLM DFLNPNGSDC TLVLFYTPWC RFSASLAPHF NSLPRAFPAL
HFLALDASQH SSLSTRFGTV AVPNILLFQG AKPMARFNHT DRTLETLKIF IFNQTGIEAK
KNVVVTQADQ IGPLPSTLIK SVDWLLVFSL FFLISFIMYA TIRTESIRWL IPGQEQEHVE
