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Protein

Taperin

Gene

TPRN

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

Functioni

GO - Molecular functioni

GO - Biological processi

  • sensory perception of sound Source: UniProtKB
  • stereocilium maintenance Source: Ensembl

Keywordsi

Biological processHearing

Names & Taxonomyi

Protein namesi
Recommended name:
Taperin
Gene namesi
Name:TPRN
Synonyms:C9orf75
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000176058.11
HGNCiHGNC:26894 TPRN
MIMi613354 gene
neXtProtiNX_Q4KMQ1

Subcellular locationi

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 79 (DFNB79)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction.
See also OMIM:613307

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi286262
MalaCardsiTPRN
MIMi613307 phenotype
OpenTargetsiENSG00000176058
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA165586341

Polymorphism and mutation databases

BioMutaiTPRN
DMDMi187470857

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003303091 – 711TaperinAdd BLAST711

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei241PhosphoserineCombined sources1
Modified residuei362PhosphoserineCombined sources1
Modified residuei418PhosphoserineBy similarity1
Modified residuei463PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ4KMQ1
MaxQBiQ4KMQ1
PaxDbiQ4KMQ1
PeptideAtlasiQ4KMQ1
PRIDEiQ4KMQ1
ProteomicsDBi62199
62200 [Q4KMQ1-2]
62201 [Q4KMQ1-3]
62202 [Q4KMQ1-4]

PTM databases

iPTMnetiQ4KMQ1
PhosphoSitePlusiQ4KMQ1

Expressioni

Tissue specificityi

Expression is detected in fetal cochlea.1 Publication

Gene expression databases

BgeeiENSG00000176058 Expressed in 152 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_C9orf75
ExpressionAtlasiQ4KMQ1 baseline and differential
GenevisibleiQ4KMQ1 HS

Organism-specific databases

HPAiHPA020899

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PPP1CAP621363EBI-3942777,EBI-357253

GO - Molecular functioni

Protein-protein interaction databases

BioGridi130345, 40 interactors
IntActiQ4KMQ1, 39 interactors
STRINGi9606.ENSP00000387100

Structurei

3D structure databases

ProteinModelPortaliQ4KMQ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi104 – 281Pro-richAdd BLAST178
Compositional biasi528 – 533Poly-Glu6
Compositional biasi590 – 627Glu-richAdd BLAST38

Sequence similaritiesi

Belongs to the taperin family.Curated

Phylogenomic databases

eggNOGiENOG410IHYC Eukaryota
ENOG410ZR6R LUCA
GeneTreeiENSGT00530000064035
HOGENOMiHOG000111648
HOVERGENiHBG107679
InParanoidiQ4KMQ1
OMAiNSFTVHP
OrthoDBiEOG091G09R5
PhylomeDBiQ4KMQ1
TreeFamiTF333324

Family and domain databases

InterProiView protein in InterPro
IPR025903 Phostensin/Taperin_N_dom
IPR025907 Phostensin/Taperin_PP1-bd_dom
IPR026671 PPP1R18/Tprn
IPR033359 TPRN
PANTHERiPTHR21685 PTHR21685, 1 hit
PTHR21685:SF1 PTHR21685:SF1, 1 hit
PfamiView protein in Pfam
PF13914 Phostensin, 1 hit
PF13916 Phostensin_N, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q4KMQ1-1) [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
MAALGRPGSG PRAAVPAWKR EILERKRAKL AALGGGAGPG AAEPEQRVLA
60 70 80 90 100
ESLGPLRENP FMLLEAERRR GGGAAGARLL ERYRRVPGVR ALRADSVLII
110 120 130 140 150
ETVPGFPPAP PAPGAAQIRA AEVLVYGAPP GRVSRLLERF DPPAAPRRRG
160 170 180 190 200
SPERARPPPP PPPPAPPRPP PAAPSPPAAP GPRGGGASPG ARRSDFLQKT
210 220 230 240 250
GSNSFTVHPR GLHRGAGARL LSNGHSAPEP RAGPANRLAG SPPGSGQWKP
260 270 280 290 300
KVESGDPSLH PPPSPGTPSA TPASPPASAT PSQRQCVSAA TSTNDSFEIR
310 320 330 340 350
PAPKPVMETI PLGDLQARAL ASLRANSRNS FMVIPKSKAS GAPPPEGRQS
360 370 380 390 400
VELPKGDLGP ASPSQELGSQ PVPGGDGAPA LGKSPLEVEA QWAVEEGACP
410 420 430 440 450
RTATALADRA IRWQRPSSPP PFLPAASEEA EPAEGLRVPG LAKNSREYVR
460 470 480 490 500
PGLPVTFIDE VDSEEAPQAA KLPYLPHPAR PLHPARPGCV AELQPRGSNT
510 520 530 540 550
FTVVPKRKPG TLQDQHFSQA NREPRPREAE EEEASCLLGP TLKKRYPTVH
560 570 580 590 600
EIEVIGGYLA LQKSCLTKAG SSRKKMKISF NDKSLQTTFE YPSESSLEQE
610 620 630 640 650
EEVDQQEEEE EEEEEEEEEE EGSGSEEKPF ALFLPRATFV SSVRPESSRL
660 670 680 690 700
PEGSSGLSSY TPKHSVAFSK WQEQALEQAP REAEPPPVEA MLTPASQNDL
710
SDFRSEPALY F
Length:711
Mass (Da):75,556
Last modified:April 29, 2008 - v2
Checksum:iB85D155DF1DD2147
GO
Isoform 2 (identifier: Q4KMQ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-306: Missing.

Show »
Length:405
Mass (Da):44,178
Checksum:i89050B82251F0E24
GO
Isoform 3 (identifier: Q4KMQ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-306: Missing.
     691-691: M → MVRCGGVERWGESDTRASPCVHILSSHFQ

Show »
Length:433
Mass (Da):47,275
Checksum:i72ED4CB73465E801
GO
Isoform 4 (identifier: Q4KMQ1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-305: Missing.
     306-311: VMETIP → MVSITG

Show »
Length:406
Mass (Da):44,195
Checksum:i25DC3D86A5F7CA7B
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BLU1H3BLU1_HUMAN
Taperin
TPRN
537Annotation score:

Sequence cautioni

The sequence AAI11501 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti338K → N in BAC11169 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0330271 – 306Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST306
Alternative sequenceiVSP_0390381 – 305Missing in isoform 4. 1 PublicationAdd BLAST305
Alternative sequenceiVSP_039039306 – 311VMETIP → MVSITG in isoform 4. 1 Publication6
Alternative sequenceiVSP_033028691M → MVRCGGVERWGESDTRASPC VHILSSHFQ in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074735 mRNA Translation: BAC11169.1
AL929554 Genomic DNA No translation available.
BC071831 mRNA Translation: AAH71831.1
BC098411 mRNA Translation: AAH98411.1
BC111500 mRNA Translation: AAI11501.1 Different initiation.
BC128601 mRNA Translation: AAI28602.1
BC143385 mRNA Translation: AAI43386.1
CCDSiCCDS56594.1 [Q4KMQ1-1]
RefSeqiNP_001121700.2, NM_001128228.2 [Q4KMQ1-1]
UniGeneiHs.323445

Genome annotation databases

EnsembliENST00000409012; ENSP00000387100; ENSG00000176058 [Q4KMQ1-1]
GeneIDi286262
KEGGihsa:286262
UCSCiuc004clu.4 human [Q4KMQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074735 mRNA Translation: BAC11169.1
AL929554 Genomic DNA No translation available.
BC071831 mRNA Translation: AAH71831.1
BC098411 mRNA Translation: AAH98411.1
BC111500 mRNA Translation: AAI11501.1 Different initiation.
BC128601 mRNA Translation: AAI28602.1
BC143385 mRNA Translation: AAI43386.1
CCDSiCCDS56594.1 [Q4KMQ1-1]
RefSeqiNP_001121700.2, NM_001128228.2 [Q4KMQ1-1]
UniGeneiHs.323445

3D structure databases

ProteinModelPortaliQ4KMQ1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130345, 40 interactors
IntActiQ4KMQ1, 39 interactors
STRINGi9606.ENSP00000387100

PTM databases

iPTMnetiQ4KMQ1
PhosphoSitePlusiQ4KMQ1

Polymorphism and mutation databases

BioMutaiTPRN
DMDMi187470857

Proteomic databases

EPDiQ4KMQ1
MaxQBiQ4KMQ1
PaxDbiQ4KMQ1
PeptideAtlasiQ4KMQ1
PRIDEiQ4KMQ1
ProteomicsDBi62199
62200 [Q4KMQ1-2]
62201 [Q4KMQ1-3]
62202 [Q4KMQ1-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409012; ENSP00000387100; ENSG00000176058 [Q4KMQ1-1]
GeneIDi286262
KEGGihsa:286262
UCSCiuc004clu.4 human [Q4KMQ1-1]

Organism-specific databases

CTDi286262
DisGeNETi286262
EuPathDBiHostDB:ENSG00000176058.11
GeneCardsiTPRN
HGNCiHGNC:26894 TPRN
HPAiHPA020899
MalaCardsiTPRN
MIMi613307 phenotype
613354 gene
neXtProtiNX_Q4KMQ1
OpenTargetsiENSG00000176058
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA165586341
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHYC Eukaryota
ENOG410ZR6R LUCA
GeneTreeiENSGT00530000064035
HOGENOMiHOG000111648
HOVERGENiHBG107679
InParanoidiQ4KMQ1
OMAiNSFTVHP
OrthoDBiEOG091G09R5
PhylomeDBiQ4KMQ1
TreeFamiTF333324

Miscellaneous databases

ChiTaRSiTPRN human
GenomeRNAii286262
PROiPR:Q4KMQ1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176058 Expressed in 152 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_C9orf75
ExpressionAtlasiQ4KMQ1 baseline and differential
GenevisibleiQ4KMQ1 HS

Family and domain databases

InterProiView protein in InterPro
IPR025903 Phostensin/Taperin_N_dom
IPR025907 Phostensin/Taperin_PP1-bd_dom
IPR026671 PPP1R18/Tprn
IPR033359 TPRN
PANTHERiPTHR21685 PTHR21685, 1 hit
PTHR21685:SF1 PTHR21685:SF1, 1 hit
PfamiView protein in Pfam
PF13914 Phostensin, 1 hit
PF13916 Phostensin_N, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTPRN_HUMAN
AccessioniPrimary (citable) accession number: Q4KMQ1
Secondary accession number(s): B7ZKU5
, Q5VSG5, Q5VSG6, Q6IPP2, Q8NCH2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: November 7, 2018
This is version 107 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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