Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Death domain-containing protein 1

Gene

DTHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:37261. DTHD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.
PRIDEiQ6ZMT9.

PTM databases

iPTMnetiQ6ZMT9.
PhosphoSitePlusiQ6ZMT9.

Expressioni

Gene expression databases

BgeeiENSG00000197057.
ExpressionAtlasiQ6ZMT9. baseline and differential.
GenevisibleiQ6ZMT9. HS.

Organism-specific databases

HPAiHPA037761.
HPA037762.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000401597.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMT9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini679 – 764DeathPROSITE-ProRule annotationAdd BLAST86

Sequence similaritiesi

Contains 1 death domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFXG. Eukaryota.
ENOG410ZN6X. LUCA.
GeneTreeiENSGT00390000004546.
HOGENOMiHOG000169251.
HOVERGENiHBG108700.
InParanoidiQ6ZMT9.
PhylomeDBiQ6ZMT9.
TreeFamiTF351910.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR011029. DEATH-like_dom.
IPR000488. Death_domain.
[Graphical view]
PfamiPF00531. Death. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
PROSITEiPS50017. DEATH_DOMAIN. 1 hit.
[Graphical view]

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 rs16992035dbSNPEnsembl.1
Natural variantiVAR_046340179V → D.2 PublicationsCorresponds to variant rs1995319dbSNPEnsembl.1
Natural variantiVAR_046341552R → C.1 PublicationCorresponds to variant rs12507599dbSNPEnsembl.1
Natural variantiVAR_046342662R → H.1 PublicationCorresponds to variant rs9654132dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ6ZMT9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000401597.

PTM databases

iPTMnetiQ6ZMT9.
PhosphoSitePlusiQ6ZMT9.

Polymorphism and mutation databases

DMDMi300669694.

Proteomic databases

PaxDbiQ6ZMT9.
PRIDEiQ6ZMT9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi401124.
DisGeNETi401124.
GeneCardsiDTHD1.
HGNCiHGNC:37261. DTHD1.
HPAiHPA037761.
HPA037762.
MIMi616979. gene.
neXtProtiNX_Q6ZMT9.
OpenTargetsiENSG00000197057.
PharmGKBiPA165663634.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFXG. Eukaryota.
ENOG410ZN6X. LUCA.
GeneTreeiENSGT00390000004546.
HOGENOMiHOG000169251.
HOVERGENiHBG108700.
InParanoidiQ6ZMT9.
PhylomeDBiQ6ZMT9.
TreeFamiTF351910.

Miscellaneous databases

GenomeRNAii401124.
PROiQ6ZMT9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197057.
ExpressionAtlasiQ6ZMT9. baseline and differential.
GenevisibleiQ6ZMT9. HS.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR011029. DEATH-like_dom.
IPR000488. Death_domain.
[Graphical view]
PfamiPF00531. Death. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
PROSITEiPS50017. DEATH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDTHD1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMT9
Secondary accession number(s): B2RXK4, B4E2N7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: July 13, 2010
Last modified: November 2, 2016
This is version 91 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.