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Protein

Death domain-containing protein 1

Gene

DTHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Death domain-containing protein 1
Gene namesi
Name:DTHD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000197057.8
HGNCiHGNC:37261 DTHD1
MIMi616979 gene
neXtProtiNX_Q6ZMT9

Pathology & Biotechi

Organism-specific databases

DisGeNETi401124
OpenTargetsiENSG00000197057
PharmGKBiPA165663634

Polymorphism and mutation databases

DMDMi300669694

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003492741 – 781Death domain-containing protein 1Add BLAST781

Proteomic databases

PaxDbiQ6ZMT9
PeptideAtlasiQ6ZMT9
PRIDEiQ6ZMT9

PTM databases

iPTMnetiQ6ZMT9
PhosphoSitePlusiQ6ZMT9

Expressioni

Gene expression databases

BgeeiENSG00000197057
ExpressionAtlasiQ6ZMT9 baseline and differential
GenevisibleiQ6ZMT9 HS

Structurei

3D structure databases

ProteinModelPortaliQ6ZMT9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini167 – 301ZU5 1PROSITE-ProRule annotationAdd BLAST135
Domaini302 – 483ZU5 2PROSITE-ProRule annotationAdd BLAST182
Domaini679 – 764DeathPROSITE-ProRule annotationAdd BLAST86

Phylogenomic databases

eggNOGiENOG410IFXG Eukaryota
ENOG410ZN6X LUCA
GeneTreeiENSGT00390000004546
HOGENOMiHOG000169251
HOVERGENiHBG108700
InParanoidiQ6ZMT9
PhylomeDBiQ6ZMT9
TreeFamiTF351910

Family and domain databases

InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR000906 ZU5_dom
PfamiView protein in Pfam
PF00531 Death, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
PROSITEiView protein in PROSITE
PS50017 DEATH_DOMAIN, 1 hit
PS51145 ZU5, 2 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZMT9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHDECTPQQT MSSIQDTKAA DIAARGELNV IETATVSPTN GEESHYTNQV
60 70 80 90 100
QLEKNKTHMS SALVEKENNT SLNGRVLGQE ESQNKMFPDN AENEDDKQIE
110 120 130 140 150
HMTVENINGN REETHGIIQT TETEIQETSE SPREEMTTSS IICDISKKYI
160 170 180 190 200
NSTLPNDSEN IKHKNNIMEK EYLDVLSDVT GPQVSCYITA PSYVLQQLEC
210 220 230 240 250
RIINHMSSLI VGDNEELVSN VITIECSDKE KRVPFPIGIA IPFTARYRGN
260 270 280 290 300
YRDIMVKVCD INLQSSYLNP NSLEGMKGGY KGTCASVKVY KLGIFSVVSC
310 320 330 340 350
LKKESFTVTK KGLALKSSMD SRISLNYPPG VFTSPVLVQL KIQPVDPALV
360 370 380 390 400
AHLKAQQDTF YSVQSTSPLI HIQHPSTYPF QKPVTLFLPC SPYLDKNNLG
410 420 430 440 450
SEIDHKRRAS ATINRITPSY FNRTKIASIR KPRKNASECL KLLGFRSQDS
460 470 480 490 500
GWCGLDDVVK TIQSGLVSVE LYEHLERFIV LHLSSTMDNS HLVTFVKSLE
510 520 530 540 550
EAMLSTTACI VLSHQKDNPH RIAVLVVPSK DLSQVLKDLH LEGFGGPPEP
560 570 580 590 600
SRHFQVREGE QLLLRFTGNI FASSNGKDYG KDYTLIFHLQ RKPRLELQIK
610 620 630 640 650
EVDEFGNYSC PHYKGTIVVY KVPKGKIVPN LNQSLVINEN HSQLPICKLP
660 670 680 690 700
LKLPKHKKLI NRPQSTKRVS KDPVEALWDN LLHWLAEELS EENAESLSST
710 720 730 740 750
LPLRRSTIQL IKLKNPDDLT EQIHEFLCFW KKSLPTFTDK LRLLARHLRK
760 770 780
IGRSDLAEEL KFKWENKVFT EPQQCFDVAP E
Length:781
Mass (Da):88,329
Last modified:July 13, 2010 - v3
Checksum:i3D92ADC3A73E613F
GO
Isoform 2 (identifier: Q6ZMT9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: Missing.
     166-171: NIMEKE → MCLEKR

Note: No experimental confirmation available.
Show »
Length:616
Mass (Da):69,841
Checksum:iECA47121F34919DB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti749R → S in BAG65199 (PubMed:14702039).Curated1
Sequence conflicti749R → S in BAH14894 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04633926G → R. Corresponds to variant dbSNP:rs16992035Ensembl.1
Natural variantiVAR_046340179V → D2 PublicationsCorresponds to variant dbSNP:rs1995319Ensembl.1
Natural variantiVAR_046341552R → C1 PublicationCorresponds to variant dbSNP:rs12507599Ensembl.1
Natural variantiVAR_046342662R → H1 PublicationCorresponds to variant dbSNP:rs9654132Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0353021 – 165Missing in isoform 2. 1 PublicationAdd BLAST165
Alternative sequenceiVSP_035303166 – 171NIMEKE → MCLEKR in isoform 2. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131492 mRNA Translation: BAD18636.1
AK304357 mRNA Translation: BAG65199.1
AK316523 mRNA Translation: BAH14894.1
AC104078 Genomic DNA No translation available.
BC157885 mRNA Translation: AAI57886.1
CCDSiCCDS54754.1 [Q6ZMT9-1]
RefSeqiNP_001130008.2, NM_001136536.4 [Q6ZMT9-2]
NP_001164171.1, NM_001170700.2 [Q6ZMT9-1]
UniGeneiHs.363407

Genome annotation databases

EnsembliENST00000357504; ENSP00000350103; ENSG00000197057 [Q6ZMT9-2]
ENST00000456874; ENSP00000401597; ENSG00000197057 [Q6ZMT9-1]
GeneIDi401124
KEGGihsa:401124
UCSCiuc011bxy.4 human [Q6ZMT9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDTHD1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMT9
Secondary accession number(s): B2RXK4, B4E2N7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: July 13, 2010
Last modified: April 25, 2018
This is version 101 of the entry and version 3 of the sequence. See 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

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