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UniProtKB - Q9NS62 (THSD1_HUMAN)

Protein

Thrombospondin type-1 domain-containing protein 1

Gene

THSD1

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

Functioni

Enzyme and pathway databases

ReactomeiR-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins

Names & Taxonomyi

Protein namesi
Recommended name:
Thrombospondin type-1 domain-containing protein 1
Alternative name(s):
Transmembrane molecule with thrombospondin module
Gene namesi
Name:THSD1
Synonyms:TMTSP
ORF Names:UNQ3010/PRO9769
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000136114.15
HGNCiHGNC:17754 THSD1
neXtProtiNX_Q9NS62

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 413ExtracellularSequence analysisAdd BLAST389
Transmembranei414 – 434HelicalSequence analysisAdd BLAST21
Topological domaini435 – 852CytoplasmicSequence analysisAdd BLAST418

Keywords - Cellular componenti

Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi55901
OpenTargetsiENSG00000136114
PharmGKBiPA134937912

Polymorphism and mutation databases

BioMutaiTHSD1
DMDMi74752936

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000024958425 – 852Thrombospondin type-1 domain-containing protein 1Add BLAST828

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi39N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi58N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi80N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi304N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi352 ↔ 387PROSITE-ProRule annotation
Disulfide bondi356 ↔ 392PROSITE-ProRule annotation
Disulfide bondi367 ↔ 377PROSITE-ProRule annotation
Modified residuei463PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9NS62
PaxDbiQ9NS62
PeptideAtlasiQ9NS62
PRIDEiQ9NS62
ProteomicsDBi82492
82493 [Q9NS62-2]
82494 [Q9NS62-3]

PTM databases

iPTMnetiQ9NS62
PhosphoSitePlusiQ9NS62

Expressioni

Gene expression databases

BgeeiENSG00000136114 Expressed in 89 organ(s), highest expression level in lung
CleanExiHS_THSD1
ExpressionAtlasiQ9NS62 baseline and differential
GenevisibleiQ9NS62 HS

Organism-specific databases

HPAiCAB020796
HPA012611

Interactioni

Protein-protein interaction databases

IntActiQ9NS62, 1 interactor
STRINGi9606.ENSP00000258613

Structurei

3D structure databases

ProteinModelPortaliQ9NS62
SMRiQ9NS62
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini340 – 393TSP type-1PROSITE-ProRule annotationAdd BLAST54

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG2S Eukaryota
ENOG410Z44J LUCA
GeneTreeiENSGT00390000013335
HOGENOMiHOG000230926
HOVERGENiHBG079998
InParanoidiQ9NS62
OMAiQRNIETW
OrthoDBiEOG091G01H1
PhylomeDBiQ9NS62
TreeFamiTF333148

Family and domain databases

Gene3Di2.20.100.10, 1 hit
InterProiView protein in InterPro
IPR038877 THSD1
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PANTHERiPTHR16311 PTHR16311, 1 hit
PfamiView protein in Pfam
PF00090 TSP_1, 1 hit
SMARTiView protein in SMART
SM00209 TSP1, 1 hit
SUPFAMiSSF82895 SSF82895, 1 hit
PROSITEiView protein in PROSITE
PS50092 TSP1, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NS62-1) [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
MKPMLKDFSN LLLVVLCDYV LGEAEYLLLR EPGHVALSND TVYVDFQYFD 
        60         70         80         90        100
GANGTLRNVS VLLLEANTNQ TVTTKYLLTN QSQGTLKFEC FYFKEAGDYW 
       110        120        130        140        150
FTMTPEATDN STPFPWWEKS AFLKVEWPVF HVDLNRSAKA AEGTFQVGLF 
       160        170        180        190        200
TSQPLCPFPV DKPNIVVDVI FTNSLPEARR NSRQPLEIRT SKRTELAQGQ 
       210        220        230        240        250
WVEFGCAPLG PEAYVTVVLK LLGRDSVITS TGPIDLAQKF GYKLVMVPEL 
       260        270        280        290        300
TCESGVEVTV LPPPCTFVQG VVTVFKEAPR YPGKRTIHLA ENSLPLGERR 
       310        320        330        340        350
TIFNCTLFDM GKNKYCFDFG ISSRSHFSAK EECMLIQRNT ETWGLWQPWS 
       360        370        380        390        400
QCSATCGDGV RERRRVCLTS FPSSPVCPGM SLEASLCSLE ECAAFQPSSP 
       410        420        430        440        450
SPLQPQGPVK SNNIVTVTGI SLCLFIIIAT VLITLWRRFG RPAKCSTPAR 
       460        470        480        490        500
HNSIHSPSFR KNSDEENICE LSEQRGSFSD GGDGPTGSPG DTGIPLTYRR 
       510        520        530        540        550
SGPVPPEDDA SGSESFQSNA QKIIPPLFSY RLAQQQLKEM KKKGLTETTK 
       560        570        580        590        600
VYHVSQSPLT DTAIDAAPSA PLDLESPEEA AANKFRIKSP FPEQPAVSAG 
       610        620        630        640        650
ERPPSRLDLN VTQASCAISP SQTLIRKSQA RHVGSRGGPS ERSHARNAHF 
       660        670        680        690        700
RRTASFHEAR QARPFRERSM STLTPRQAPA YSSRTRTCEQ AEDRFRPQSR 
       710        720        730        740        750
GAHLFPEKLE HFQEASGTRG PLNPLPKSYT LGQPLRKPDL GDHQAGLVAG 
       760        770        780        790        800
IERTEPHRAR RGPSPSHKSV SRKQSSPISP KDNYQRVSSL SPSQCRKDKC 
       810        820        830        840        850
QSFPTHPEFA FYDNTSFGLT EAEQRMLDLP GYFGSNEEDE TTSTLSVEKL 

VI
Length:852
Mass (Da):94,584
Last modified:October 1, 2000 - v1
Checksum:i597461CFDDC07147
GO
Isoform 2 (identifier: Q9NS62-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-393: Missing.

Show »
Length:799
Mass (Da):88,793
Checksum:i8EE64302930687B6
GO
Isoform 3 (identifier: Q9NS62-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-429: AFQPSSPSPLQPQGPVKSNNIVTVTGISLCLFIIIA → GGFSLCCPGWSAVARSWLTTSSASRVHAILLPQPPE
     430-852: Missing.

Show »
Length:429
Mass (Da):47,864
Checksum:i65F11FC187DAB6B0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027474125V → G. Corresponds to variant dbSNP:rs13313279Ensembl.1
Natural variantiVAR_027475224R → G. Corresponds to variant dbSNP:rs9536062Ensembl.1
Natural variantiVAR_061920491D → H. Corresponds to variant dbSNP:rs56013270Ensembl.1
Natural variantiVAR_027476768K → R. Corresponds to variant dbSNP:rs9536041Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020521341 – 393Missing in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_020522394 – 429AFQPS…FIIIA → GGFSLCCPGWSAVARSWLTT SSASRVHAILLPQPPE in isoform 3. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_020523430 – 852Missing in isoform 3. 1 PublicationAdd BLAST423

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044385 mRNA Translation: BAA96553.1
AY358149 mRNA Translation: AAQ88516.1
AK315087 mRNA Translation: BAG37552.1
AL359513 Genomic DNA No translation available.
CH471274 Genomic DNA Translation: EAW55891.1
CH471274 Genomic DNA Translation: EAW55894.1
BC063842 mRNA Translation: AAH63842.1
CCDSiCCDS9432.1 [Q9NS62-1]
CCDS9433.1 [Q9NS62-2]
RefSeqiNP_061146.1, NM_018676.3 [Q9NS62-1]
NP_954872.1, NM_199263.2 [Q9NS62-2]
UniGeneiHs.325667

Genome annotation databases

EnsembliENST00000258613; ENSP00000258613; ENSG00000136114 [Q9NS62-1]
ENST00000349258; ENSP00000340650; ENSG00000136114 [Q9NS62-2]
GeneIDi55901
KEGGihsa:55901
UCSCiuc001vgo.4 human [Q9NS62-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044385 mRNA Translation: BAA96553.1
AY358149 mRNA Translation: AAQ88516.1
AK315087 mRNA Translation: BAG37552.1
AL359513 Genomic DNA No translation available.
CH471274 Genomic DNA Translation: EAW55891.1
CH471274 Genomic DNA Translation: EAW55894.1
BC063842 mRNA Translation: AAH63842.1
CCDSiCCDS9432.1 [Q9NS62-1]
CCDS9433.1 [Q9NS62-2]
RefSeqiNP_061146.1, NM_018676.3 [Q9NS62-1]
NP_954872.1, NM_199263.2 [Q9NS62-2]
UniGeneiHs.325667

3D structure databases

ProteinModelPortaliQ9NS62
SMRiQ9NS62
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9NS62, 1 interactor
STRINGi9606.ENSP00000258613

PTM databases

iPTMnetiQ9NS62
PhosphoSitePlusiQ9NS62

Polymorphism and mutation databases

BioMutaiTHSD1
DMDMi74752936

Proteomic databases

EPDiQ9NS62
PaxDbiQ9NS62
PeptideAtlasiQ9NS62
PRIDEiQ9NS62
ProteomicsDBi82492
82493 [Q9NS62-2]
82494 [Q9NS62-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258613; ENSP00000258613; ENSG00000136114 [Q9NS62-1]
ENST00000349258; ENSP00000340650; ENSG00000136114 [Q9NS62-2]
GeneIDi55901
KEGGihsa:55901
UCSCiuc001vgo.4 human [Q9NS62-1]

Organism-specific databases

CTDi55901
DisGeNETi55901
EuPathDBiHostDB:ENSG00000136114.15
GeneCardsiTHSD1
HGNCiHGNC:17754 THSD1
HPAiCAB020796
HPA012611
neXtProtiNX_Q9NS62
OpenTargetsiENSG00000136114
PharmGKBiPA134937912
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG2S Eukaryota
ENOG410Z44J LUCA
GeneTreeiENSGT00390000013335
HOGENOMiHOG000230926
HOVERGENiHBG079998
InParanoidiQ9NS62
OMAiQRNIETW
OrthoDBiEOG091G01H1
PhylomeDBiQ9NS62
TreeFamiTF333148

Enzyme and pathway databases

ReactomeiR-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins

Miscellaneous databases

ChiTaRSiTHSD1 human
GeneWikiiTHSD1
GenomeRNAii55901
PROiPR:Q9NS62

Gene expression databases

BgeeiENSG00000136114 Expressed in 89 organ(s), highest expression level in lung
CleanExiHS_THSD1
ExpressionAtlasiQ9NS62 baseline and differential
GenevisibleiQ9NS62 HS

Family and domain databases

Gene3Di2.20.100.10, 1 hit
InterProiView protein in InterPro
IPR038877 THSD1
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PANTHERiPTHR16311 PTHR16311, 1 hit
PfamiView protein in Pfam
PF00090 TSP_1, 1 hit
SMARTiView protein in SMART
SM00209 TSP1, 1 hit
SUPFAMiSSF82895 SSF82895, 1 hit
PROSITEiView protein in PROSITE
PS50092 TSP1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTHSD1_HUMAN
AccessioniPrimary (citable) accession number: Q9NS62
Secondary accession number(s): A2A3J3
, B2RCF5, Q6P3U1, Q6UXZ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 127 of the entry and version 1 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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