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Protein

Tetratricopeptide repeat protein 12

Gene

TTC12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000149292.16
HGNCiHGNC:23700 TTC12
MIMi610732 gene
neXtProtiNX_Q9H892

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi54970
OpenTargetsiENSG00000149292
PharmGKBiPA134886066

Polymorphism and mutation databases

BioMutaiTTC12
DMDMi317373286

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063951 – 705Tetratricopeptide repeat protein 12Add BLAST705

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei71PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H892
MaxQBiQ9H892
PaxDbiQ9H892
PeptideAtlasiQ9H892
PRIDEiQ9H892

PTM databases

iPTMnetiQ9H892
PhosphoSitePlusiQ9H892

Expressioni

Gene expression databases

BgeeiENSG00000149292
CleanExiHS_TTC12
ExpressionAtlasiQ9H892 baseline and differential
GenevisibleiQ9H892 HS

Organism-specific databases

HPAiHPA038542
HPA038543
HPA061364

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120307, 4 interactors
IntActiQ9H892, 6 interactors
MINTiQ9H892
STRINGi9606.ENSP00000433757

Structurei

3D structure databases

ProteinModelPortaliQ9H892
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati106 – 139TPR 1Add BLAST34
Repeati140 – 173TPR 2Add BLAST34
Repeati174 – 207TPR 3Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG0548 Eukaryota
ENOG410XTCJ LUCA
GeneTreeiENSGT00730000110724
HOGENOMiHOG000013164
HOVERGENiHBG060890
InParanoidiQ9H892
OMAiYFHMGKA
PhylomeDBiQ9H892
TreeFamiTF332406

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR001440 TPR_1
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF00515 TPR_1, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 3 hits
SUPFAMiSSF48371 SSF48371, 3 hits
SSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 3 hits
PS50293 TPR_REGION, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti361F → Y in BAA91242 (PubMed:14702039).Curated1
Sequence conflicti649Q → R in BAA91242 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03143173M → L1 PublicationCorresponds to variant dbSNP:rs723077Ensembl.1
Natural variantiVAR_031432468M → L. Corresponds to variant dbSNP:rs35852218Ensembl.1
Natural variantiVAR_061903563V → A. Corresponds to variant dbSNP:rs35303225Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009119682 – 705FAAQL…YISDS → VPAESSHLQFGRESAAPEAL SPRRWEEMFHMLVFSLSSVD PPPPPPQTCYP in isoform 2. 1 PublicationAdd BLAST24

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

Similar proteinsi

Entry informationi

Entry nameiTTC12_HUMAN
AccessioniPrimary (citable) accession number: Q9H892
Secondary accession number(s): Q8N5H9, Q9NWY3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 2003
Last sequence update: January 11, 2011
Last modified: May 23, 2018
This is version 143 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 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

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