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Protein

Transmembrane and TPR repeat-containing protein 3

Gene

TMTC3

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

Functioni

Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.1 Publication

GO - Biological processi

  • positive regulation of proteasomal protein catabolic process Source: UniProtKB
  • response to endoplasmic reticulum stress Source: UniProtKB

Protein family/group databases

TCDBi8.A.95.1.1 the transmembrane and tpr repeat-containing protein 3 (tmtc3) family

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

EuPathDBiHostDB:ENSG00000139324.11
HGNCiHGNC:26899 TMTC3
MIMi617218 gene
neXtProtiNX_Q6ZXV5

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

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Lissencephaly 8 (LIS8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive.
See also OMIM:617255
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07790067H → D in LIS8. 1 Publication1
Natural variantiVAR_077901384G → E in LIS8. 1 Publication1

Keywords - Diseasei

Disease mutation, Lissencephaly

Organism-specific databases

DisGeNETi160418
MalaCardsiTMTC3
MIMi617255 phenotype
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...) asparagineSequence analysis1
Glycosylationi494N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei503PhosphotyrosineCombined sources1
Glycosylationi541N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6ZXV5
MaxQBiQ6ZXV5
PaxDbiQ6ZXV5
PeptideAtlasiQ6ZXV5
PRIDEiQ6ZXV5
ProteomicsDBi68498
68499 [Q6ZXV5-2]

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, 27 interactors
IntActiQ6ZXV5, 5 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

Keywords - Domaini

Repeat, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1124 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00550000074327
HOVERGENiHBG094080
InParanoidiQ6ZXV5
OMAiSDYVQAY
OrthoDBiEOG091G0FWN
PhylomeDBiQ6ZXV5
TreeFamiTF328339

Family and domain databases

Gene3Di1.25.40.10, 4 hits
InterProiView protein in InterPro
IPR013618 DUF1736
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF08409 DUF1736, 1 hit
PF13174 TPR_6, 1 hit
PF13181 TPR_8, 3 hits
SMARTiView protein in SMART
SM00028 TPR, 9 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 9 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: 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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07790067H → D in LIS8. 1 Publication1
Natural variantiVAR_077901384G → E in LIS8. 1 Publication1

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

Similar proteinsi

Entry informationi

Entry nameiTMTC3_HUMAN
AccessioniPrimary (citable) accession number: Q6ZXV5
Secondary accession number(s): Q5CZ86
, Q5H9T6, Q68DQ6, Q68DX0, Q7Z332, Q8NC50
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: June 20, 2018
This is version 124 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 12
    Human chromosome 12: 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

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