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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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921HelicalSequence analysisAdd
BLAST
Transmembranei94 – 11421HelicalSequence analysisAdd
BLAST
Transmembranei136 – 15823HelicalSequence analysisAdd
BLAST
Transmembranei167 – 18721HelicalSequence analysisAdd
BLAST
Transmembranei194 – 21421HelicalSequence analysisAdd
BLAST
Transmembranei232 – 25221HelicalSequence analysisAdd
BLAST
Transmembranei318 – 33821HelicalSequence analysisAdd
BLAST
Transmembranei354 – 37421HelicalSequence analysisAdd
BLAST
Transmembranei377 – 39721HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670720.

Polymorphism and mutation databases

BioMutaiTMTC3.
DMDMi134035047.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 915915Transmembrane and TPR repeat-containing protein 3PRO_0000280293Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi117 – 1171N-linked (GlcNAc...)Sequence analysis
Glycosylationi494 – 4941N-linked (GlcNAc...)Sequence analysis
Modified residuei503 – 5031PhosphotyrosineCombined sources
Glycosylationi541 – 5411N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6ZXV5.
MaxQBiQ6ZXV5.
PaxDbiQ6ZXV5.
PeptideAtlasiQ6ZXV5.
PRIDEiQ6ZXV5.

PTM databases

iPTMnetiQ6ZXV5.
SwissPalmiQ6ZXV5.

Expressioni

Gene expression databases

BgeeiQ6ZXV5.
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 interactions.
IntActiQ6ZXV5. 4 interactions.
STRINGi9606.ENSP00000266712.

Structurei

3D structure databases

ProteinModelPortaliQ6ZXV5.
SMRiQ6ZXV5. Positions 412-803.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati412 – 44534TPR 1Add
BLAST
Repeati446 – 47934TPR 2Add
BLAST
Repeati481 – 51333TPR 3Add
BLAST
Repeati528 – 56235TPR 4Add
BLAST
Repeati563 – 59634TPR 5Add
BLAST
Repeati597 – 63135TPR 6Add
BLAST
Repeati669 – 70234TPR 7Add
BLAST
Repeati704 – 73633TPR 8Add
BLAST
Repeati737 – 77135TPR 9Add
BLAST
Repeati773 – 80533TPR 10Add
BLAST

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.
OMAiCVVFVER.
OrthoDBiEOG72RMXM.
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 BAC11325.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti120 – 1201S → R in CAH18164 (PubMed:17974005).Curated
Sequence conflicti158 – 1581S → P in BAC11325 (PubMed:15489334).Curated
Sequence conflicti201 – 2011Y → C in BAC11325 (PubMed:15489334).Curated
Sequence conflicti348 – 3481V → G in CAD98046 (PubMed:17974005).Curated
Sequence conflicti489 – 4891T → A in CAH18100 (PubMed:17974005).Curated
Sequence conflicti538 – 5381I → V in CAI45938 (PubMed:17974005).Curated
Sequence conflicti639 – 6391A → V in CAD98046 (PubMed:17974005).Curated
Sequence conflicti864 – 8641D → N in CAD98046 (PubMed:17974005).Curated
Sequence conflicti883 – 8831T → A in CAD98046 (PubMed:17974005).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei618 – 6181Missing in isoform 2. 4 PublicationsVSP_023619

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. Positions 412-803.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127757. 21 interactions.
IntActiQ6ZXV5. 4 interactions.
STRINGi9606.ENSP00000266712.

PTM databases

iPTMnetiQ6ZXV5.
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.
GeneCardsiTMTC3.
HGNCiHGNC:26899. TMTC3.
HPAiHPA038550.
neXtProtiNX_Q6ZXV5.
PharmGKBiPA142670720.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1124. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00550000074327.
HOVERGENiHBG094080.
InParanoidiQ6ZXV5.
OMAiCVVFVER.
OrthoDBiEOG72RMXM.
PhylomeDBiQ6ZXV5.
TreeFamiTF328339.

Miscellaneous databases

ChiTaRSiTMTC3. human.
GenomeRNAii160418.
PROiQ6ZXV5.

Gene expression databases

BgeeiQ6ZXV5.
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...

Publicationsi

« Hide 'large scale' publications
  1. "SMILE, a new gene expressed by human odontoblasts."
    Bleicher F., Heidet E., Carrouel F., Couble M.L., Magloire H.
    Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Tooth.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Amygdala, Endometrial tumor, Uterine endothelium and Uterus.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 52-876 (ISOFORM 2).
    Tissue: Teratocarcinoma.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-503, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

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: July 6, 2016
This is version 108 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.