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Protein

Thrombospondin type-1 domain-containing protein 1

Gene

THSD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:17754. THSD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 413389ExtracellularSequence analysisAdd
BLAST
Transmembranei414 – 43421HelicalSequence analysisAdd
BLAST
Topological domaini435 – 852418CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134937912.

Polymorphism and mutation databases

BioMutaiTHSD1.
DMDMi74752936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence analysisAdd
BLAST
Chaini25 – 852828Thrombospondin type-1 domain-containing protein 1PRO_0000249584Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi39 – 391N-linked (GlcNAc...)Sequence analysis
Glycosylationi53 – 531N-linked (GlcNAc...)Sequence analysis
Glycosylationi58 – 581N-linked (GlcNAc...)Sequence analysis
Glycosylationi69 – 691N-linked (GlcNAc...)Sequence analysis
Glycosylationi80 – 801N-linked (GlcNAc...)Sequence analysis
Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence analysis
Glycosylationi304 – 3041N-linked (GlcNAc...)Sequence analysis
Disulfide bondi352 ↔ 387PROSITE-ProRule annotation
Disulfide bondi356 ↔ 392PROSITE-ProRule annotation
Disulfide bondi367 ↔ 377PROSITE-ProRule annotation
Modified residuei463 – 4631PhosphoserineBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9NS62.
PaxDbiQ9NS62.
PeptideAtlasiQ9NS62.
PRIDEiQ9NS62.

PTM databases

iPTMnetiQ9NS62.
PhosphoSiteiQ9NS62.

Expressioni

Gene expression databases

BgeeiQ9NS62.
CleanExiHS_THSD1.
ExpressionAtlasiQ9NS62. baseline and differential.
GenevisibleiQ9NS62. HS.

Organism-specific databases

HPAiCAB020796.
HPA012611.

Interactioni

Protein-protein interaction databases

IntActiQ9NS62. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9NS62.
SMRiQ9NS62. Positions 343-392.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini340 – 39354TSP type-1PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 TSP type-1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG2S. Eukaryota.
ENOG410Z44J. LUCA.
GeneTreeiENSGT00390000013335.
HOGENOMiHOG000230926.
HOVERGENiHBG079998.
InParanoidiQ9NS62.
OMAiLITLWRK.
OrthoDBiEOG7MKW5N.
PhylomeDBiQ9NS62.
TreeFamiTF333148.

Family and domain databases

InterProiIPR000884. TSP1_rpt.
[Graphical view]
PfamiPF00090. TSP_1. 1 hit.
[Graphical view]
SMARTiSM00209. TSP1. 1 hit.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 1 hit.
PROSITEiPS50092. TSP1. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251V → G.
Corresponds to variant rs13313279 [ dbSNP | Ensembl ].
VAR_027474
Natural varianti224 – 2241R → G.
Corresponds to variant rs9536062 [ dbSNP | Ensembl ].
VAR_027475
Natural varianti491 – 4911D → H.
Corresponds to variant rs56013270 [ dbSNP | Ensembl ].
VAR_061920
Natural varianti768 – 7681K → R.
Corresponds to variant rs9536041 [ dbSNP | Ensembl ].
VAR_027476

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei341 – 39353Missing in isoform 2. 1 PublicationVSP_020521Add
BLAST
Alternative sequencei394 – 42936AFQPS…FIIIA → GGFSLCCPGWSAVARSWLTT SSASRVHAILLPQPPE in isoform 3. 1 PublicationVSP_020522Add
BLAST
Alternative sequencei430 – 852423Missing in isoform 3. 1 PublicationVSP_020523Add
BLAST

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. Translation: CAH71657.1.
AL359513 Genomic DNA. Translation: CAM14602.1.
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

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. Translation: CAH71657.1.
AL359513 Genomic DNA. Translation: CAM14602.1.
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. Positions 343-392.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9NS62. 1 interaction.

PTM databases

iPTMnetiQ9NS62.
PhosphoSiteiQ9NS62.

Polymorphism and mutation databases

BioMutaiTHSD1.
DMDMi74752936.

Proteomic databases

EPDiQ9NS62.
PaxDbiQ9NS62.
PeptideAtlasiQ9NS62.
PRIDEiQ9NS62.

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.
GeneCardsiTHSD1.
HGNCiHGNC:17754. THSD1.
HPAiCAB020796.
HPA012611.
neXtProtiNX_Q9NS62.
PharmGKBiPA134937912.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG2S. Eukaryota.
ENOG410Z44J. LUCA.
GeneTreeiENSGT00390000013335.
HOGENOMiHOG000230926.
HOVERGENiHBG079998.
InParanoidiQ9NS62.
OMAiLITLWRK.
OrthoDBiEOG7MKW5N.
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.
PROiQ9NS62.

Gene expression databases

BgeeiQ9NS62.
CleanExiHS_THSD1.
ExpressionAtlasiQ9NS62. baseline and differential.
GenevisibleiQ9NS62. HS.

Family and domain databases

InterProiIPR000884. TSP1_rpt.
[Graphical view]
PfamiPF00090. TSP_1. 1 hit.
[Graphical view]
SMARTiSM00209. TSP1. 1 hit.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 1 hit.
PROSITEiPS50092. TSP1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Transmembrane molecule with thrombospondin module."
    Hiroyama T., Atsushi I., Yukio N., Hiromitsu N.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Placenta.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: PNS.

Entry informationi

Entry nameiTHSD1_HUMAN
AccessioniPrimary (citable) accession number: Q9NS62
Secondary accession number(s): A2A3J3
, B2RCF5, Q6P3U1, Q6UXZ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: October 1, 2000
Last modified: July 6, 2016
This is version 113 of the entry and version 1 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 13
    Human chromosome 13: 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. 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.