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Protein

Thrombospondin-type laminin G domain and EAR repeat-containing protein

Gene

TSPEAR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May play a role in development or function of the auditory system.

GO - Biological processi

  • sensory perception of sound Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Thrombospondin-type laminin G domain and EAR repeat-containing protein
Short name:
TSP-EAR
Gene namesi
Name:TSPEAR
Synonyms:C21orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:1268. TSPEAR.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 98 (DFNB98)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:614861

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MalaCardsiTSPEAR.
MIMi614861. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA25824.

Polymorphism and mutation databases

BioMutaiTSPEAR.
DMDMi26006900.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence analysisAdd
BLAST
Chaini20 – 669650Thrombospondin-type laminin G domain and EAR repeat-containing proteinPRO_0000022597Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi320 – 3201N-linked (GlcNAc...)Sequence analysis
Glycosylationi468 – 4681N-linked (GlcNAc...)Sequence analysis
Glycosylationi497 – 4971N-linked (GlcNAc...)Sequence analysis
Glycosylationi556 – 5561N-linked (GlcNAc...)Sequence analysis
Glycosylationi569 – 5691N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8WU66.
PRIDEiQ8WU66.

PTM databases

iPTMnetiQ8WU66.
PhosphoSiteiQ8WU66.

Expressioni

Gene expression databases

BgeeiQ8WU66.
CleanExiHS_C21orf29.
ExpressionAtlasiQ8WU66. baseline and differential.
GenevisibleiQ8WU66. HS.

Organism-specific databases

HPAiCAB034203.
CAB034204.

Interactioni

Protein-protein interaction databases

IntActiQ8WU66. 1 interaction.
STRINGi9606.ENSP00000321987.

Structurei

3D structure databases

ProteinModelPortaliQ8WU66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini58 – 277220Laminin G-likeAdd
BLAST
Repeati313 – 35846EAR 1Add
BLAST
Repeati359 – 40850EAR 2Add
BLAST
Repeati411 – 46050EAR 3Add
BLAST
Repeati463 – 51250EAR 4Add
BLAST
Repeati513 – 57058EAR 5Add
BLAST
Repeati573 – 62250EAR 6Add
BLAST
Repeati624 – 66845EAR 7Add
BLAST

Sequence similaritiesi

Contains 7 EAR repeats.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS7E. Eukaryota.
ENOG410Y3VC. LUCA.
GeneTreeiENSGT00510000047718.
HOGENOMiHOG000293200.
HOVERGENiHBG069001.
InParanoidiQ8WU66.
OMAiWEAFNTT.
OrthoDBiEOG7VTDMG.
PhylomeDBiQ8WU66.
TreeFamiTF329841.

Family and domain databases

InterProiIPR013320. ConA-like_dom.
IPR009039. EAR.
IPR005492. EPTP.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF03736. EPTP. 5 hits.
[Graphical view]
SMARTiSM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS50912. EAR. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q8WU66-1) [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
MSALLSLCFV LPLAAPGHGT QGWEPCTDLR PLDILAEVVP SDGATSGIRI
60 70 80 90 100
VQVHGARGLQ LSVAAPRTMS FPASRIFSQC DLFPEEFSIV VTLRVPNLPP
110 120 130 140 150
KRNEYLLTVV AEESDLLLLG LRLSPAQLHF LFLREDTAGA WQTRVSFRSP
160 170 180 190 200
ALVDGRWHTL VLAVSAGVFS LTTDCGLPVD IMADVPFPAT LSVKGARFFV
210 220 230 240 250
GSRRRAKGLF MGLVRQLVLL PGSDATPRLC PSRNAPLAVL SIPRVLQALT
260 270 280 290 300
GKPEDNEVLK YPYETNIRVT LGPQPPCTEV EDAQFWFDAS RKGLYLCVGN
310 320 330 340 350
EWVSVLAAKE RLDYVEEHQN LSTNSETLGI EVFRIPQVGL FVATANRKAT
360 370 380 390 400
SAVYKWTEEK FVSYQNIPTH QAQAWRHFTI GKKIFLAVAN FEPDEKGQEF
410 420 430 440 450
SVIYKWSHRK LKFTPYQSIA THSARDWEAF EVDGEHFLAV ANHREGDNHN
460 470 480 490 500
IDSVIYKWNP ATRLFEANQT IATSGAYDWE FFSVGPYSFL VVANTFNGTS
510 520 530 540 550
TKVHSHLYIR LLGSFQLFQS FPTFGAADWE VFQIGERIFL AVANSHSYDV
560 570 580 590 600
EMQVQNDSYV INSVIYELNV TAQAFVKFQD ILTCSALDWE FFSVGEDYFL
610 620 630 640 650
VVANSFDGRT FSVNSIIYRW QGYEGFVAVH SLPTVGCRDW EAFSTTAGAY
660
LIYSSAKEPL SRVLRLRTR
Length:669
Mass (Da):74,924
Last modified:November 28, 2002 - v2
Checksum:iE3E880708B63812E
GO
Isoform 2 (identifier: Q8WU66-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     586-598: ALDWEFFSVGEDY → GGRRGLHARRAEG
     599-669: Missing.

Note: No experimental confirmation available.
Show »
Length:598
Mass (Da):66,722
Checksum:i6903310628ABA00A
GO

Sequence cautioni

The sequence AAH21197.2 differs from that shown.Intron retention.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti166 – 1661A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036271

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei586 – 59813ALDWE…VGEDY → GGRRGLHARRAEG in isoform 2. 1 PublicationVSP_004006Add
BLAST
Alternative sequencei599 – 66971Missing in isoform 2. 1 PublicationVSP_004007Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ487962 mRNA. Translation: CAD32309.1.
BC021197 mRNA. Translation: AAH21197.2. Sequence problems.
CCDSiCCDS13712.1. [Q8WU66-1]
RefSeqiNP_001258966.1. NM_001272037.1.
NP_659428.2. NM_144991.2. [Q8WU66-1]
UniGeneiHs.660703.

Genome annotation databases

EnsembliENST00000323084; ENSP00000321987; ENSG00000175894. [Q8WU66-1]
GeneIDi54084.
KEGGihsa:54084.
UCSCiuc002zfe.1. human. [Q8WU66-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ487962 mRNA. Translation: CAD32309.1.
BC021197 mRNA. Translation: AAH21197.2. Sequence problems.
CCDSiCCDS13712.1. [Q8WU66-1]
RefSeqiNP_001258966.1. NM_001272037.1.
NP_659428.2. NM_144991.2. [Q8WU66-1]
UniGeneiHs.660703.

3D structure databases

ProteinModelPortaliQ8WU66.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8WU66. 1 interaction.
STRINGi9606.ENSP00000321987.

PTM databases

iPTMnetiQ8WU66.
PhosphoSiteiQ8WU66.

Polymorphism and mutation databases

BioMutaiTSPEAR.
DMDMi26006900.

Proteomic databases

PaxDbiQ8WU66.
PRIDEiQ8WU66.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323084; ENSP00000321987; ENSG00000175894. [Q8WU66-1]
GeneIDi54084.
KEGGihsa:54084.
UCSCiuc002zfe.1. human. [Q8WU66-1]

Organism-specific databases

CTDi54084.
GeneCardsiTSPEAR.
HGNCiHGNC:1268. TSPEAR.
HPAiCAB034203.
CAB034204.
MalaCardsiTSPEAR.
MIMi612920. gene.
614861. phenotype.
neXtProtiNX_Q8WU66.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA25824.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS7E. Eukaryota.
ENOG410Y3VC. LUCA.
GeneTreeiENSGT00510000047718.
HOGENOMiHOG000293200.
HOVERGENiHBG069001.
InParanoidiQ8WU66.
OMAiWEAFNTT.
OrthoDBiEOG7VTDMG.
PhylomeDBiQ8WU66.
TreeFamiTF329841.

Miscellaneous databases

ChiTaRSiTSPEAR. human.
GenomeRNAii54084.
PROiQ8WU66.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WU66.
CleanExiHS_C21orf29.
ExpressionAtlasiQ8WU66. baseline and differential.
GenevisibleiQ8WU66. HS.

Family and domain databases

InterProiIPR013320. ConA-like_dom.
IPR009039. EAR.
IPR005492. EPTP.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF03736. EPTP. 5 hits.
[Graphical view]
SMARTiSM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS50912. EAR. 7 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A common protein interaction domain links two recently identified epilepsy genes."
    Scheel H., Tomiuk S., Hofmann K.
    Hum. Mol. Genet. 11:1757-1762(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "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] OF 28-669 (ISOFORM 2).
    Tissue: Lung.
  3. "Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness."
    Delmaghani S., Aghaie A., Michalski N., Bonnet C., Weil D., Petit C.
    Hum. Mol. Genet. 21:3835-3844(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE FUNCTION, INVOLVEMENT IN DFNB98.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-166.

Entry informationi

Entry nameiTSEAR_HUMAN
AccessioniPrimary (citable) accession number: Q8WU66
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: November 28, 2002
Last modified: June 8, 2016
This is version 118 of the entry and version 2 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 21
    Human chromosome 21: 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.