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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: -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

Keywordsi

Biological processHearing

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

EuPathDBiHostDB:ENSG00000175894.14
HGNCiHGNC:1268 TSPEAR
MIMi612920 gene
neXtProtiNX_Q8WU66

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

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

DisGeNETi54084
MalaCardsiTSPEAR
MIMi614861 phenotype
OpenTargetsiENSG00000175894
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA25824

Polymorphism and mutation databases

BioMutaiTSPEAR
DMDMi26006900

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000002259720 – 669Thrombospondin-type laminin G domain and EAR repeat-containing proteinAdd BLAST650

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi320N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi468N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi556N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi569N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8WU66
PeptideAtlasiQ8WU66
PRIDEiQ8WU66

PTM databases

iPTMnetiQ8WU66
PhosphoSitePlusiQ8WU66

Expressioni

Gene expression databases

BgeeiENSG00000175894
CleanExiHS_C21orf29
ExpressionAtlasiQ8WU66 baseline and differential
GenevisibleiQ8WU66 HS

Organism-specific databases

HPAiCAB034203
CAB034204
HPA052995

Interactioni

Protein-protein interaction databases

IntActiQ8WU66, 1 interactor
STRINGi9606.ENSP00000321987

Structurei

3D structure databases

ProteinModelPortaliQ8WU66
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini58 – 277Laminin G-likeAdd BLAST220
Repeati313 – 358EAR 1PROSITE-ProRule annotationAdd BLAST46
Repeati360 – 408EAR 2PROSITE-ProRule annotationAdd BLAST49
Repeati412 – 460EAR 3PROSITE-ProRule annotationAdd BLAST49
Repeati464 – 506EAR 4PROSITE-ProRule annotationAdd BLAST43
Repeati514 – 570EAR 5PROSITE-ProRule annotationAdd BLAST57
Repeati574 – 622EAR 6PROSITE-ProRule annotationAdd BLAST49
Repeati625 – 668EAR 7PROSITE-ProRule annotationAdd BLAST44

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS7E Eukaryota
ENOG410Y3VC LUCA
GeneTreeiENSGT00510000047718
HOGENOMiHOG000293200
HOVERGENiHBG069001
InParanoidiQ8WU66
OMAiFDGNTFS
OrthoDBiEOG091G05QR
PhylomeDBiQ8WU66
TreeFamiTF329841

Family and domain databases

InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR009039 EAR
IPR005492 EPTP
IPR001791 Laminin_G
PfamiView protein in Pfam
PF03736 EPTP, 5 hits
SMARTiView protein in SMART
SM00210 TSPN, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50912 EAR, 7 hits

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 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036271166A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs782068174Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004006586 – 598ALDWE…VGEDY → GGRRGLHARRAEG in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_004007599 – 669Missing in isoform 2. 1 PublicationAdd BLAST71

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

Similar proteinsi

Entry informationi

Entry nameiTSEAR_HUMAN
AccessioniPrimary (citable) accession number: Q8WU66
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: November 28, 2002
Last modified: February 28, 2018
This is version 131 of the entry and version 2 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 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

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