DTHD1_HUMAN
ID DTHD1_HUMAN Reviewed; 781 AA.
AC Q6ZMT9; B2RXK4; B4E2N7;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 3.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Death domain-containing protein 1;
GN Name=DTHD1;
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 2), AND VARIANTS ASP-179
RP AND HIS-662.
RC TISSUE=Trachea;
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 MRNA] (ISOFORM 1), AND VARIANTS ASP-179
RP AND CYS-552.
RC TISSUE=Brain;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZMT9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZMT9-2; Sequence=VSP_035302, VSP_035303;
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DR EMBL; AK131492; BAD18636.1; -; mRNA.
DR EMBL; AK304357; BAG65199.1; -; mRNA.
DR EMBL; AK316523; BAH14894.1; -; mRNA.
DR EMBL; AC104078; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC157885; AAI57886.1; -; mRNA.
DR RefSeq; NP_001130008.2; NM_001136536.4. [Q6ZMT9-2]
DR RefSeq; NP_001164171.1; NM_001170700.2.
DR AlphaFoldDB; Q6ZMT9; -.
DR BioGRID; 134936; 1.
DR IntAct; Q6ZMT9; 1.
DR STRING; 9606.ENSP00000401597; -.
DR iPTMnet; Q6ZMT9; -.
DR PhosphoSitePlus; Q6ZMT9; -.
DR BioMuta; DTHD1; -.
DR DMDM; 300669694; -.
DR jPOST; Q6ZMT9; -.
DR MassIVE; Q6ZMT9; -.
DR PaxDb; Q6ZMT9; -.
DR PeptideAtlas; Q6ZMT9; -.
DR PRIDE; Q6ZMT9; -.
DR Antibodypedia; 52334; 6 antibodies from 2 providers.
DR DNASU; 401124; -.
DR Ensembl; ENST00000357504.7; ENSP00000350103.3; ENSG00000197057.10. [Q6ZMT9-2]
DR Ensembl; ENST00000456874.3; ENSP00000401597.2; ENSG00000197057.10. [Q6ZMT9-1]
DR GeneID; 401124; -.
DR KEGG; hsa:401124; -.
DR UCSC; uc011bxy.4; human. [Q6ZMT9-1]
DR CTD; 401124; -.
DR DisGeNET; 401124; -.
DR GeneCards; DTHD1; -.
DR HGNC; HGNC:37261; DTHD1.
DR HPA; ENSG00000197057; Tissue enhanced (brain, fallopian tube).
DR MIM; 616979; gene.
DR neXtProt; NX_Q6ZMT9; -.
DR OpenTargets; ENSG00000197057; -.
DR PharmGKB; PA165663634; -.
DR VEuPathDB; HostDB:ENSG00000197057; -.
DR eggNOG; ENOG502QTTM; Eukaryota.
DR GeneTree; ENSGT00940000153404; -.
DR HOGENOM; CLU_013631_0_0_1; -.
DR InParanoid; Q6ZMT9; -.
DR OrthoDB; 1115198at2759; -.
DR PhylomeDB; Q6ZMT9; -.
DR TreeFam; TF351910; -.
DR PathwayCommons; Q6ZMT9; -.
DR SignaLink; Q6ZMT9; -.
DR BioGRID-ORCS; 401124; 10 hits in 1025 CRISPR screens.
DR ChiTaRS; DTHD1; human.
DR GenomeRNAi; 401124; -.
DR Pharos; Q6ZMT9; Tdark.
DR PRO; PR:Q6ZMT9; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6ZMT9; protein.
DR Bgee; ENSG00000197057; Expressed in right uterine tube and 85 other tissues.
DR ExpressionAtlas; Q6ZMT9; baseline and differential.
DR Genevisible; Q6ZMT9; HS.
DR GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR Gene3D; 1.10.533.10; -; 1.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR000488; Death_domain.
DR InterPro; IPR000906; ZU5_dom.
DR Pfam; PF00531; Death; 1.
DR SUPFAM; SSF47986; SSF47986; 1.
DR PROSITE; PS50017; DEATH_DOMAIN; 1.
DR PROSITE; PS51145; ZU5; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..781
FT /note="Death domain-containing protein 1"
FT /id="PRO_0000349274"
FT DOMAIN 167..301
FT /note="ZU5 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00485"
FT DOMAIN 302..483
FT /note="ZU5 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00485"
FT DOMAIN 679..764
FT /note="Death"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00064"
FT VAR_SEQ 1..165
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035302"
FT VAR_SEQ 166..171
FT /note="NIMEKE -> MCLEKR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035303"
FT VARIANT 26
FT /note="G -> R (in dbSNP:rs16992035)"
FT /id="VAR_046339"
FT VARIANT 179
FT /note="V -> D (in dbSNP:rs1995319)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_046340"
FT VARIANT 552
FT /note="R -> C (in dbSNP:rs12507599)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_046341"
FT VARIANT 662
FT /note="R -> H (in dbSNP:rs9654132)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_046342"
FT CONFLICT 749
FT /note="R -> S (in Ref. 1; BAG65199/BAH14894)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 781 AA; 88329 MW; 3D92ADC3A73E613F CRC64;
MHDECTPQQT MSSIQDTKAA DIAARGELNV IETATVSPTN GEESHYTNQV QLEKNKTHMS
SALVEKENNT SLNGRVLGQE ESQNKMFPDN AENEDDKQIE HMTVENINGN REETHGIIQT
TETEIQETSE SPREEMTTSS IICDISKKYI NSTLPNDSEN IKHKNNIMEK EYLDVLSDVT
GPQVSCYITA PSYVLQQLEC RIINHMSSLI VGDNEELVSN VITIECSDKE KRVPFPIGIA
IPFTARYRGN YRDIMVKVCD INLQSSYLNP NSLEGMKGGY KGTCASVKVY KLGIFSVVSC
LKKESFTVTK KGLALKSSMD SRISLNYPPG VFTSPVLVQL KIQPVDPALV AHLKAQQDTF
YSVQSTSPLI HIQHPSTYPF QKPVTLFLPC SPYLDKNNLG SEIDHKRRAS ATINRITPSY
FNRTKIASIR KPRKNASECL KLLGFRSQDS GWCGLDDVVK TIQSGLVSVE LYEHLERFIV
LHLSSTMDNS HLVTFVKSLE EAMLSTTACI VLSHQKDNPH RIAVLVVPSK DLSQVLKDLH
LEGFGGPPEP SRHFQVREGE QLLLRFTGNI FASSNGKDYG KDYTLIFHLQ RKPRLELQIK
EVDEFGNYSC PHYKGTIVVY KVPKGKIVPN LNQSLVINEN HSQLPICKLP LKLPKHKKLI
NRPQSTKRVS KDPVEALWDN LLHWLAEELS EENAESLSST LPLRRSTIQL IKLKNPDDLT
EQIHEFLCFW KKSLPTFTDK LRLLARHLRK IGRSDLAEEL KFKWENKVFT EPQQCFDVAP
E
