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Protein

Tetratricopeptide repeat protein 12

Gene

TTC12

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

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 12
Short name:
TPR repeat protein 12
Gene namesi
Name:TTC12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:23700. TTC12.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: MGI
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134886066.

Polymorphism and mutation databases

BioMutaiTTC12.
DMDMi317373286.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 705705Tetratricopeptide repeat protein 12PRO_0000106395Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei71 – 711PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H892.
PaxDbiQ9H892.
PeptideAtlasiQ9H892.
PRIDEiQ9H892.

PTM databases

iPTMnetiQ9H892.
PhosphoSiteiQ9H892.

Expressioni

Gene expression databases

BgeeiENSG00000149292.
CleanExiHS_TTC12.
ExpressionAtlasiQ9H892. baseline and differential.
GenevisibleiQ9H892. HS.

Organism-specific databases

HPAiHPA038543.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HPCAL4Q9UM193EBI-10274410,EBI-744820
MIPOL1Q8TD103EBI-10274410,EBI-2548751

Protein-protein interaction databases

BioGridi120307. 4 interactions.
IntActiQ9H892. 5 interactions.
STRINGi9606.ENSP00000433757.

Structurei

3D structure databases

ProteinModelPortaliQ9H892.
SMRiQ9H892. Positions 48-305, 521-586, 606-689.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati106 – 13934TPR 1Add
BLAST
Repeati140 – 17334TPR 2Add
BLAST
Repeati174 – 20734TPR 3Add
BLAST

Sequence similaritiesi

Contains 3 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG0548. Eukaryota.
ENOG410XTCJ. LUCA.
GeneTreeiENSGT00730000110724.
HOGENOMiHOG000013164.
HOVERGENiHBG060890.
InParanoidiQ9H892.
OMAiLCLGNCM.
PhylomeDBiQ9H892.
TreeFamiTF332406.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
1.25.40.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00515. TPR_1. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
SSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 3 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9H892-1) [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
MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE
60 70 80 90 100
DQEEDECRTT LNKTMISPPQ TAMKSAEEIN SEAFLASVEK DAKERAKRRR
110 120 130 140 150
ENKVLADALK EKGNEAFAEG NYETAILRYS EGLEKLKDMK VLYTNRAQAY
160 170 180 190 200
MKLEDYEKAL VDCEWALKCD EKCTKAYFHM GKANLALKNY SVSRECYKKI
210 220 230 240 250
LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN TAVTTKNLLE
260 270 280 290 300
TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
310 320 330 340 350
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS
360 370 380 390 400
SKVLAIRQQS FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE
410 420 430 440 450
ANTAMGLFTD LALEERFQVW FQANLPGVLP ALTGVLKTDP KVSSSSALCQ
460 470 480 490 500
CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS LLARCEEDVD LFREVIYTLL
510 520 530 540 550
GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA AGVLSRTLSS
560 570 580 590 600
SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
610 620 630 640 650
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV
660 670 680 690 700
LLKLAGSDTQ KTAVQVNAGI ALGKLCTAEP RFAAQLRKLH GLEILNSTMK

YISDS
Length:705
Mass (Da):78,756
Last modified:January 11, 2011 - v2
Checksum:i2775D30CC9D83C2E
GO
Isoform 2 (identifier: Q9H892-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     682-705: FAAQLRKLHGLEILNSTMKYISDS → VPAESSHLQFGRESAAPEALSPRRWEEMFHMLVFSLSSVDPPPPPPQTCYP

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:732
Mass (Da):81,727
Checksum:iC7581B16717E3538
GO

Sequence cautioni

The sequence BAA91242 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti361 – 3611F → Y in BAA91242 (PubMed:14702039).Curated
Sequence conflicti649 – 6491Q → R in BAA91242 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731M → L.1 Publication
Corresponds to variant rs723077 [ dbSNP | Ensembl ].
VAR_031431
Natural varianti468 – 4681M → L.
Corresponds to variant rs35852218 [ dbSNP | Ensembl ].
VAR_031432
Natural varianti563 – 5631V → A.
Corresponds to variant rs35303225 [ dbSNP | Ensembl ].
VAR_061903

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei682 – 70524FAAQL…YISDS → VPAESSHLQFGRESAAPEAL SPRRWEEMFHMLVFSLSSVD PPPPPPQTCYP in isoform 2. 1 PublicationVSP_009119Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000542 mRNA. Translation: BAA91242.1. Different initiation.
AK023921 mRNA. Translation: BAB14725.1.
AP000880 Genomic DNA. No translation available.
AP002840 Genomic DNA. No translation available.
BC032355 mRNA. Translation: AAH32355.1.
CCDSiCCDS8360.2. [Q9H892-1]
RefSeqiNP_001305462.1. NM_001318533.1.
NP_060338.3. NM_017868.3. [Q9H892-1]
UniGeneiHs.288772.

Genome annotation databases

EnsembliENST00000314756; ENSP00000315160; ENSG00000149292. [Q9H892-2]
ENST00000494714; ENSP00000435291; ENSG00000149292. [Q9H892-2]
ENST00000529221; ENSP00000433757; ENSG00000149292. [Q9H892-1]
GeneIDi54970.
KEGGihsa:54970.
UCSCiuc001pnu.3. human. [Q9H892-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000542 mRNA. Translation: BAA91242.1. Different initiation.
AK023921 mRNA. Translation: BAB14725.1.
AP000880 Genomic DNA. No translation available.
AP002840 Genomic DNA. No translation available.
BC032355 mRNA. Translation: AAH32355.1.
CCDSiCCDS8360.2. [Q9H892-1]
RefSeqiNP_001305462.1. NM_001318533.1.
NP_060338.3. NM_017868.3. [Q9H892-1]
UniGeneiHs.288772.

3D structure databases

ProteinModelPortaliQ9H892.
SMRiQ9H892. Positions 48-305, 521-586, 606-689.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120307. 4 interactions.
IntActiQ9H892. 5 interactions.
STRINGi9606.ENSP00000433757.

PTM databases

iPTMnetiQ9H892.
PhosphoSiteiQ9H892.

Polymorphism and mutation databases

BioMutaiTTC12.
DMDMi317373286.

Proteomic databases

MaxQBiQ9H892.
PaxDbiQ9H892.
PeptideAtlasiQ9H892.
PRIDEiQ9H892.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314756; ENSP00000315160; ENSG00000149292. [Q9H892-2]
ENST00000494714; ENSP00000435291; ENSG00000149292. [Q9H892-2]
ENST00000529221; ENSP00000433757; ENSG00000149292. [Q9H892-1]
GeneIDi54970.
KEGGihsa:54970.
UCSCiuc001pnu.3. human. [Q9H892-1]

Organism-specific databases

CTDi54970.
GeneCardsiTTC12.
HGNCiHGNC:23700. TTC12.
HPAiHPA038543.
MIMi610732. gene.
neXtProtiNX_Q9H892.
PharmGKBiPA134886066.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0548. Eukaryota.
ENOG410XTCJ. LUCA.
GeneTreeiENSGT00730000110724.
HOGENOMiHOG000013164.
HOVERGENiHBG060890.
InParanoidiQ9H892.
OMAiLCLGNCM.
PhylomeDBiQ9H892.
TreeFamiTF332406.

Miscellaneous databases

ChiTaRSiTTC12. human.
GenomeRNAii54970.
PROiQ9H892.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149292.
CleanExiHS_TTC12.
ExpressionAtlasiQ9H892. baseline and differential.
GenevisibleiQ9H892. HS.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
1.25.40.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00515. TPR_1. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
SSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 3 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTTC12_HUMAN
AccessioniPrimary (citable) accession number: Q9H892
Secondary accession number(s): Q8N5H9, Q9NWY3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 2003
Last sequence update: January 11, 2011
Last modified: September 7, 2016
This is version 128 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 11
    Human chromosome 11: 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.