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Protein

Taperin

Gene

TPRN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

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

Keywords - Biological processi

Hearing

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

HGNCiHGNC:26894. TPRN.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

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

Polymorphism and mutation databases

BioMutaiTPRN.
DMDMi187470857.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 711711TaperinPRO_0000330309Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei241 – 2411PhosphoserineCombined sources
Modified residuei362 – 3621PhosphoserineCombined sources
Modified residuei418 – 4181PhosphoserineBy similarity
Modified residuei463 – 4631PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ4KMQ1.
MaxQBiQ4KMQ1.
PaxDbiQ4KMQ1.
PeptideAtlasiQ4KMQ1.
PRIDEiQ4KMQ1.

PTM databases

iPTMnetiQ4KMQ1.
PhosphoSiteiQ4KMQ1.

Expressioni

Tissue specificityi

Expression is detected in fetal cochlea.1 Publication

Gene expression databases

BgeeiENSG00000176058.
CleanExiHS_C9orf75.
ExpressionAtlasiQ4KMQ1. baseline and differential.
GenevisibleiQ4KMQ1. HS.

Organism-specific databases

HPAiHPA020899.

Interactioni

Protein-protein interaction databases

BioGridi130345. 38 interactions.
IntActiQ4KMQ1. 33 interactions.
MINTiMINT-1033451.
STRINGi9606.ENSP00000387100.

Structurei

3D structure databases

ProteinModelPortaliQ4KMQ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi104 – 281178Pro-richAdd
BLAST
Compositional biasi528 – 5336Poly-Glu
Compositional biasi590 – 62738Glu-richAdd
BLAST

Sequence similaritiesi

Belongs to the taperin family.Curated

Phylogenomic databases

eggNOGiENOG410IHYC. Eukaryota.
ENOG410ZR6R. LUCA.
GeneTreeiENSGT00530000064035.
HOGENOMiHOG000111648.
HOVERGENiHBG106579.
InParanoidiQ4KMQ1.
OMAiRMPAWKR.
OrthoDBiEOG091G09R5.
PhylomeDBiQ4KMQ1.
TreeFamiTF333324.

Family and domain databases

InterProiIPR025903. Phostensin/Taperin_N_dom.
IPR025907. Phostensin/Taperin_PP1-bd_dom.
IPR026671. PPP1R18/Tprn.
IPR033359. TPRN.
[Graphical view]
PANTHERiPTHR21685. PTHR21685. 1 hit.
PTHR21685:SF1. PTHR21685:SF1. 1 hit.
PfamiPF13914. Phostensin. 1 hit.
PF13916. Phostensin_N. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti338 – 3381K → N in BAC11169 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 306306Missing in isoform 2 and isoform 3. 2 PublicationsVSP_033027Add
BLAST
Alternative sequencei1 – 305305Missing in isoform 4. 1 PublicationVSP_039038Add
BLAST
Alternative sequencei306 – 3116VMETIP → MVSITG in isoform 4. 1 PublicationVSP_039039
Alternative sequencei691 – 6911M → MVRCGGVERWGESDTRASPC VHILSSHFQ in isoform 3. 1 PublicationVSP_033028

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074735 mRNA. Translation: BAC11169.1.
AL929554 Genomic DNA. Translation: CAH72883.2.
AL929554 Genomic DNA. Translation: CAH72884.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074735 mRNA. Translation: BAC11169.1.
AL929554 Genomic DNA. Translation: CAH72883.2.
AL929554 Genomic DNA. Translation: CAH72884.1.
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. 38 interactions.
IntActiQ4KMQ1. 33 interactions.
MINTiMINT-1033451.
STRINGi9606.ENSP00000387100.

PTM databases

iPTMnetiQ4KMQ1.
PhosphoSiteiQ4KMQ1.

Polymorphism and mutation databases

BioMutaiTPRN.
DMDMi187470857.

Proteomic databases

EPDiQ4KMQ1.
MaxQBiQ4KMQ1.
PaxDbiQ4KMQ1.
PeptideAtlasiQ4KMQ1.
PRIDEiQ4KMQ1.

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

Phylogenomic databases

eggNOGiENOG410IHYC. Eukaryota.
ENOG410ZR6R. LUCA.
GeneTreeiENSGT00530000064035.
HOGENOMiHOG000111648.
HOVERGENiHBG106579.
InParanoidiQ4KMQ1.
OMAiRMPAWKR.
OrthoDBiEOG091G09R5.
PhylomeDBiQ4KMQ1.
TreeFamiTF333324.

Miscellaneous databases

ChiTaRSiTPRN. human.
GenomeRNAii286262.
PROiQ4KMQ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176058.
CleanExiHS_C9orf75.
ExpressionAtlasiQ4KMQ1. baseline and differential.
GenevisibleiQ4KMQ1. HS.

Family and domain databases

InterProiIPR025903. Phostensin/Taperin_N_dom.
IPR025907. Phostensin/Taperin_PP1-bd_dom.
IPR026671. PPP1R18/Tprn.
IPR033359. TPRN.
[Graphical view]
PANTHERiPTHR21685. PTHR21685. 1 hit.
PTHR21685:SF1. PTHR21685:SF1. 1 hit.
PfamiPF13914. Phostensin. 1 hit.
PF13916. Phostensin_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTPRN_HUMAN
AccessioniPrimary (citable) accession number: Q4KMQ1
Secondary accession number(s): B7ZKU5
, Q5VSG5, Q5VSG6, Q6IPP2, Q8NCH2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: September 7, 2016
This is version 90 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.