Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane and TPR repeat-containing protein 3

Gene

TMTC3

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:
Transmembrane and TPR repeat-containing protein 3
Alternative name(s):
Protein SMILE
Gene namesi
Name:TMTC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26899. TMTC3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei136 – 158HelicalSequence analysisAdd BLAST23
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Transmembranei232 – 252HelicalSequence analysisAdd BLAST21
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi160418.
OpenTargetsiENSG00000139324.
PharmGKBiPA142670720.

Polymorphism and mutation databases

BioMutaiTMTC3.
DMDMi134035047.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802931 – 915Transmembrane and TPR repeat-containing protein 3Add BLAST915

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi117N-linked (GlcNAc...)Sequence analysis1
Glycosylationi494N-linked (GlcNAc...)Sequence analysis1
Modified residuei503PhosphotyrosineCombined sources1
Glycosylationi541N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6ZXV5.
MaxQBiQ6ZXV5.
PaxDbiQ6ZXV5.
PeptideAtlasiQ6ZXV5.
PRIDEiQ6ZXV5.

PTM databases

iPTMnetiQ6ZXV5.
PhosphoSitePlusiQ6ZXV5.
SwissPalmiQ6ZXV5.

Expressioni

Gene expression databases

BgeeiENSG00000139324.
CleanExiHS_TMTC3.
ExpressionAtlasiQ6ZXV5. baseline and differential.
GenevisibleiQ6ZXV5. HS.

Organism-specific databases

HPAiHPA038550.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DAB1O755533EBI-10188441,EBI-7875264

Protein-protein interaction databases

BioGridi127757. 21 interactors.
IntActiQ6ZXV5. 4 interactors.
STRINGi9606.ENSP00000266712.

Structurei

3D structure databases

ProteinModelPortaliQ6ZXV5.
SMRiQ6ZXV5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati412 – 445TPR 1Add BLAST34
Repeati446 – 479TPR 2Add BLAST34
Repeati481 – 513TPR 3Add BLAST33
Repeati528 – 562TPR 4Add BLAST35
Repeati563 – 596TPR 5Add BLAST34
Repeati597 – 631TPR 6Add BLAST35
Repeati669 – 702TPR 7Add BLAST34
Repeati704 – 736TPR 8Add BLAST33
Repeati737 – 771TPR 9Add BLAST35
Repeati773 – 805TPR 10Add BLAST33

Sequence similaritiesi

Belongs to the TMTC family.Curated
Contains 10 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1124. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00550000074327.
HOVERGENiHBG094080.
InParanoidiQ6ZXV5.
OMAiHNLCVVF.
OrthoDBiEOG091G0FWN.
PhylomeDBiQ6ZXV5.
TreeFamiTF328339.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF13174. TPR_6. 1 hit.
PF13181. TPR_8. 5 hits.
[Graphical view]
SMARTiSM00028. TPR. 9 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 9 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: Q6ZXV5-1) [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
MANINLKEIT LIVGVVTACY WNSLFCGFVF DDVSAILDNK DLHPSTPLKT
60 70 80 90 100
LFQNDFWGTP MSEERSHKSY RPLTVLTFRL NYLLSELKPM SYHLLNMIFH
110 120 130 140 150
AVVSVIFLKV CKLFLDNKSS VIASLLFAVH PIHTEAVTGV VGRAELLSSI
160 170 180 190 200
FFLAAFLSYT RSKGPDNSII WTPIALTVFL VAVATLCKEQ GITVVGICCV
210 220 230 240 250
YEVFIAQGYT LPLLCTTAGQ FLRGKGSIPF SMLQTLVKLI VLMFSTLLLV
260 270 280 290 300
VIRVQVIQSQ LPVFTRFDNP AAVSPTPTRQ LTFNYLLPVN AWLLLNPSEL
310 320 330 340 350
CCDWTMGTIP LIESLLDIRN LATFTFFCFL GMLGVFSIRY SGDSSKTVLM
360 370 380 390 400
ALCLMALPFI PASNLFFPVG FVVAERVLYV PSMGFCILVA HGWQKISTKS
410 420 430 440 450
VFKKLSWICL SMVILTHSLK TFHRNWDWES EYTLFMSALK VNKNNAKLWN
460 470 480 490 500
NVGHALENEK NFERALKYFL QATHVQPDDI GAHMNVGRTY KNLNRTKEAE
510 520 530 540 550
ESYMMAKSLM PQIIPGKKYA ARIAPNHLNV YINLANLIRA NESRLEEADQ
560 570 580 590 600
LYRQAISMRP DFKQAYISRG ELLLKMNKPL KAKEAYLKAL ELDRNNADLW
610 620 630 640 650
YNLAIVHIEL KEPNEALKKN FNRALELNPK HKLALFNSAI VMQESGEVKL
660 670 680 690 700
RPEARKRLLS YINEEPLDAN GYFNLGMLAM DDKKDNEAEI WMKKAIKLQA
710 720 730 740 750
DFRSALFNLA LLYSQTAKEL KALPILEELL RYYPDHIKGL ILKGDILMNQ
760 770 780 790 800
KKDILGAKKC FERILEMDPS NVQGKHNLCV VYFEEKDLLK AERCLLETLA
810 820 830 840 850
LAPHEEYIQR HLNIVRDKIS SSSFIEPIFP TSKISSVEGK KIPTESVKEI
860 870 880 890 900
RGESRQTQIV KTSDNKSQSK SNKQLGKNGD EETPHKTTKD IKEIEKKRVA
910
ALKRLEEIER ILNGE
Length:915
Mass (Da):104,009
Last modified:March 20, 2007 - v2
Checksum:i2B6787CE1B7CB83C
GO
Isoform 2 (identifier: Q6ZXV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     618-618: Missing.

Show »
Length:914
Mass (Da):103,881
Checksum:i45BD2C36C36B9E1D
GO

Sequence cautioni

The sequence BAC11325 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti120S → R in CAH18164 (PubMed:17974005).Curated1
Sequence conflicti158S → P in BAC11325 (PubMed:15489334).Curated1
Sequence conflicti201Y → C in BAC11325 (PubMed:15489334).Curated1
Sequence conflicti348V → G in CAD98046 (PubMed:17974005).Curated1
Sequence conflicti489T → A in CAH18100 (PubMed:17974005).Curated1
Sequence conflicti538I → V in CAI45938 (PubMed:17974005).Curated1
Sequence conflicti639A → V in CAD98046 (PubMed:17974005).Curated1
Sequence conflicti864D → N in CAD98046 (PubMed:17974005).Curated1
Sequence conflicti883T → A in CAD98046 (PubMed:17974005).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023619618Missing in isoform 2. 4 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ697717 mRNA. Translation: CAG26973.1.
BX538169 mRNA. Translation: CAD98046.1.
CR749244 mRNA. Translation: CAH18100.1.
CR749309 mRNA. Translation: CAH18164.1.
CR933632 mRNA. Translation: CAI45938.1.
CR936640 mRNA. Translation: CAI56780.1.
BC117175 mRNA. Translation: AAI17176.1.
BC117177 mRNA. Translation: AAI17178.1.
AK074973 mRNA. Translation: BAC11325.1. Different initiation.
CCDSiCCDS9032.1. [Q6ZXV5-2]
RefSeqiNP_861448.2. NM_181783.3. [Q6ZXV5-2]
UniGeneiHs.331268.

Genome annotation databases

EnsembliENST00000266712; ENSP00000266712; ENSG00000139324. [Q6ZXV5-2]
GeneIDi160418.
KEGGihsa:160418.
UCSCiuc001tau.3. human. [Q6ZXV5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ697717 mRNA. Translation: CAG26973.1.
BX538169 mRNA. Translation: CAD98046.1.
CR749244 mRNA. Translation: CAH18100.1.
CR749309 mRNA. Translation: CAH18164.1.
CR933632 mRNA. Translation: CAI45938.1.
CR936640 mRNA. Translation: CAI56780.1.
BC117175 mRNA. Translation: AAI17176.1.
BC117177 mRNA. Translation: AAI17178.1.
AK074973 mRNA. Translation: BAC11325.1. Different initiation.
CCDSiCCDS9032.1. [Q6ZXV5-2]
RefSeqiNP_861448.2. NM_181783.3. [Q6ZXV5-2]
UniGeneiHs.331268.

3D structure databases

ProteinModelPortaliQ6ZXV5.
SMRiQ6ZXV5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127757. 21 interactors.
IntActiQ6ZXV5. 4 interactors.
STRINGi9606.ENSP00000266712.

PTM databases

iPTMnetiQ6ZXV5.
PhosphoSitePlusiQ6ZXV5.
SwissPalmiQ6ZXV5.

Polymorphism and mutation databases

BioMutaiTMTC3.
DMDMi134035047.

Proteomic databases

EPDiQ6ZXV5.
MaxQBiQ6ZXV5.
PaxDbiQ6ZXV5.
PeptideAtlasiQ6ZXV5.
PRIDEiQ6ZXV5.

Protocols and materials databases

DNASUi160418.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266712; ENSP00000266712; ENSG00000139324. [Q6ZXV5-2]
GeneIDi160418.
KEGGihsa:160418.
UCSCiuc001tau.3. human. [Q6ZXV5-1]

Organism-specific databases

CTDi160418.
DisGeNETi160418.
GeneCardsiTMTC3.
HGNCiHGNC:26899. TMTC3.
HPAiHPA038550.
neXtProtiNX_Q6ZXV5.
OpenTargetsiENSG00000139324.
PharmGKBiPA142670720.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1124. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00550000074327.
HOVERGENiHBG094080.
InParanoidiQ6ZXV5.
OMAiHNLCVVF.
OrthoDBiEOG091G0FWN.
PhylomeDBiQ6ZXV5.
TreeFamiTF328339.

Miscellaneous databases

ChiTaRSiTMTC3. human.
GenomeRNAii160418.
PROiQ6ZXV5.

Gene expression databases

BgeeiENSG00000139324.
CleanExiHS_TMTC3.
ExpressionAtlasiQ6ZXV5. baseline and differential.
GenevisibleiQ6ZXV5. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF13174. TPR_6. 1 hit.
PF13181. TPR_8. 5 hits.
[Graphical view]
SMARTiSM00028. TPR. 9 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 9 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMTC3_HUMAN
AccessioniPrimary (citable) accession number: Q6ZXV5
Secondary accession number(s): Q5CZ86
, Q5H9T6, Q68DQ6, Q68DX0, Q7Z332, Q8NC50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: November 2, 2016
This is version 111 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. 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.