UniProtKB - Q5T4D3 (TMTC4_HUMAN)
Protein O-mannosyl-transferase TMTC4
TMTC4
Functioni
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.
1 PublicationCatalytic activityi
- dolichyl β-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(α-D-mannosyl)-L-seryl-[protein] + dolichyl phosphate + H+1 PublicationEC:2.4.1.1091 PublicationThis reaction proceeds in the forward1 Publication direction.
- dolichyl β-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(α-D-mannosyl)-L-threonyl-[protein] + dolichyl phosphate + H+1 PublicationEC:2.4.1.1091 PublicationThis reaction proceeds in the forward1 Publication direction.
: protein glycosylation Pathwayi
This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 PublicationView all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.
GO - Molecular functioni
- ATPase binding Source: MGI
- dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: UniProtKB-EC
- mannosyltransferase activity Source: UniProtKB
GO - Biological processi
- endoplasmic reticulum unfolded protein response Source: Ensembl
- outer hair cell apoptotic process Source: Ensembl
- positive regulation of endoplasmic reticulum calcium ion concentration Source: Ensembl
- protein O-linked mannosylation Source: UniProtKB
- sensory perception of sound Source: Ensembl
Keywordsi
Molecular function | Transferase |
Enzyme and pathway databases
PathwayCommonsi | Q5T4D3 |
SignaLinki | Q5T4D3 |
UniPathwayi | UPA00378 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein O-mannosyl-transferase TMTC4Curated (EC:2.4.1.1091 Publication)Alternative name(s): Transmembrane and TPR repeat-containing protein 4Imported |
Gene namesi | Name:TMTC4Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25904, TMTC4 |
MIMi | 618203, gene |
neXtProti | NX_Q5T4D3 |
VEuPathDBi | HostDB:ENSG00000125247 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum Curated
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum Source: MGI
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 15 – 35 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 112 – 132 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 142 – 162 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 166 – 186 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 199 – 219 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 225 – 245 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 269 – 288 | HelicalSequence analysisAdd BLAST | 20 | |
Transmembranei | 318 – 337 | HelicalSequence analysisAdd BLAST | 20 | |
Transmembranei | 355 – 375 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 383 – 403 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 413 – 433 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 441 – 461 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 84899 |
OpenTargetsi | ENSG00000125247 |
PharmGKBi | PA142670721 |
Miscellaneous databases
Pharosi | Q5T4D3, Tdark |
Genetic variation databases
BioMutai | TMTC4 |
DMDMi | 134035049 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000280295 | 1 – 741 | Protein O-mannosyl-transferase TMTC4Add BLAST | 741 |
Proteomic databases
EPDi | Q5T4D3 |
jPOSTi | Q5T4D3 |
MassIVEi | Q5T4D3 |
MaxQBi | Q5T4D3 |
PaxDbi | Q5T4D3 |
PeptideAtlasi | Q5T4D3 |
PRIDEi | Q5T4D3 |
ProteomicsDBi | 64449 [Q5T4D3-1] 64450 [Q5T4D3-2] 64451 [Q5T4D3-3] 6752 |
PTM databases
GlyGeni | Q5T4D3, 1 site |
iPTMneti | Q5T4D3 |
PhosphoSitePlusi | Q5T4D3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000125247, Expressed in forebrain and 211 other tissues |
ExpressionAtlasi | Q5T4D3, baseline and differential |
Genevisiblei | Q5T4D3, HS |
Organism-specific databases
HPAi | ENSG00000125247, Tissue enhanced (brain) |
Interactioni
GO - Molecular functioni
- ATPase binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 124339, 50 interactors |
IntActi | Q5T4D3, 20 interactors |
STRINGi | 9606.ENSP00000343871 |
Miscellaneous databases
RNActi | Q5T4D3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 448 – 481 | TPR 1Add BLAST | 34 | |
Repeati | 482 – 515 | TPR 2Add BLAST | 34 | |
Repeati | 517 – 549 | TPR 3Add BLAST | 33 | |
Repeati | 550 – 583 | TPR 4Add BLAST | 34 | |
Repeati | 584 – 617 | TPR 5Add BLAST | 34 | |
Repeati | 619 – 651 | TPR 6Add BLAST | 33 | |
Repeati | 652 – 685 | TPR 7Add BLAST | 34 | |
Repeati | 686 – 719 | TPR 8Add BLAST | 34 |
Sequence similaritiesi
Keywords - Domaini
Repeat, TPR repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1124, Eukaryota |
GeneTreei | ENSGT00940000158521 |
HOGENOMi | CLU_011615_2_0_1 |
InParanoidi | Q5T4D3 |
OMAi | KAWANIL |
OrthoDBi | 1320023at2759 |
PhylomeDBi | Q5T4D3 |
TreeFami | TF328339 |
Family and domain databases
Gene3Di | 1.25.40.10, 3 hits |
InterProi | View protein in InterPro IPR013618, TMTC_DUF1736 IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat |
Pfami | View protein in Pfam PF08409, DUF1736, 1 hit PF13181, TPR_8, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 7 hits |
SUPFAMi | SSF48452, SSF48452, 1 hit |
PROSITEi | View protein in PROSITE PS50005, TPR, 7 hits PS50293, TPR_REGION, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVLDTDLDH ILPSSVLPPF WAKLVVGSVA IVCFARSYDG DFVFDDSEAI
60 70 80 90 100
VNNKDLQAET PLGDLWHHDF WGSRLSSNTS HKSYRPLTVL TFRINYYLSG
110 120 130 140 150
GFHPVGFHVV NILLHSGISV LMVDVFSVLF GGLQYTSKGR RLHLAPRASL
160 170 180 190 200
LAALLFAVHP VHTECVAGVV GRADLLCALF FLLSFLGYCK AFRESNKEGA
210 220 230 240 250
HSSTFWVLLS IFLGAVAMLC KEQGITVLGL NAVFDILVIG KFNVLEIVQK
260 270 280 290 300
VLHKDKSLEN LGMLRNGGLL FRMTLLTSGG AGMLYVRWRI MGTGPPAFTE
310 320 330 340 350
VDNPASFADS MLVRAVNYNY YYSLNAWLLL CPWWLCFDWS MGCIPLIKSI
360 370 380 390 400
SDWRVIALAA LWFCLIGLIC QALCSEDGHK RRILTLGLGF LVIPFLPASN
410 420 430 440 450
LFFRVGFVVA ERVLYLPSVG YCVLLTFGFG ALSKHTKKKK LIAAVVLGIL
460 470 480 490 500
FINTLRCVLR SGEWRSEEQL FRSALSVCPL NAKVHYNIGK NLADKGNQTA
510 520 530 540 550
AIRYYREAVR LNPKYVHAMN NLGNILKERN ELQEAEELLS LAVQIQPDFA
560 570 580 590 600
AAWMNLGIVQ NSLKRFEAAE QSYRTAIKHR RKYPDCYYNL GRLYADLNRH
610 620 630 640 650
VDALNAWRNA TVLKPEHSLA WNNMIILLDN TGNLAQAEAV GREALELIPN
660 670 680 690 700
DHSLMFSLAN VLGKSQKYKE SEALFLKAIK ANPNAASYHG NLAVLYHRWG
710 720 730 740
HLDLAKKHYE ISLQLDPTAS GTKENYGLLR RKLELMQKKA V
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketX6RF05 | X6RF05_HUMAN | Protein O-mannosyl-transferase TMTC... | TMTC4 | 54 | Annotation score: | ||
C9K0R2 | C9K0R2_HUMAN | Protein O-mannosyl-transferase TMTC... | TMTC4 | 73 | Annotation score: | ||
H7C095 | H7C095_HUMAN | Protein O-mannosyl-transferase TMTC... | TMTC4 | 114 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 441 | L → P in BAB55179 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 504 | Y → N in BAB55179 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 667 | K → E in BAB55179 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031117 | 286 | V → M. Corresponds to variant dbSNP:rs3809371Ensembl. | 1 | |
Natural variantiVAR_031118 | 419 | V → I. Corresponds to variant dbSNP:rs946837Ensembl. | 1 | |
Natural variantiVAR_036455 | 655 | M → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs144940475Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038261 | 1 | M → MIPNQHNAGAGSHQPAVFRM in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_054873 | 55 – 165 | Missing in isoform 4. 1 PublicationAdd BLAST | 111 | |
Alternative sequenceiVSP_023622 | 594 – 612 | YADLN…RNATV → VSAGCPVPVEGKMGYFSYL in isoform 2. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_023623 | 613 – 741 | Missing in isoform 2. 1 PublicationAdd BLAST | 129 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK056409 mRNA No translation available. AK027530 mRNA Translation: BAB55179.1 Different initiation. AK299859 mRNA Translation: BAH13152.1 BX647956 mRNA No translation available. AL359085 Genomic DNA No translation available. BC018707 mRNA Translation: AAH18707.1 Different initiation. |
CCDSi | CCDS41904.1 [Q5T4D3-1] CCDS66575.1 [Q5T4D3-4] CCDS9497.2 [Q5T4D3-3] |
RefSeqi | NP_001073137.1, NM_001079669.2 [Q5T4D3-1] NP_001273382.1, NM_001286453.1 [Q5T4D3-4] NP_116202.2, NM_032813.3 [Q5T4D3-3] XP_016876285.1, XM_017020796.1 |
Genome annotation databases
Ensembli | ENST00000328767; ENSP00000365409; ENSG00000125247 [Q5T4D3-4] ENST00000342624; ENSP00000343871; ENSG00000125247 [Q5T4D3-3] ENST00000376234; ENSP00000365408; ENSG00000125247 |
GeneIDi | 84899 |
KEGGi | hsa:84899 |
MANE-Selecti | ENST00000342624.10; ENSP00000343871.5; NM_032813.5; NP_116202.2 [Q5T4D3-3] |
UCSCi | uc001vot.5, human [Q5T4D3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK056409 mRNA No translation available. AK027530 mRNA Translation: BAB55179.1 Different initiation. AK299859 mRNA Translation: BAH13152.1 BX647956 mRNA No translation available. AL359085 Genomic DNA No translation available. BC018707 mRNA Translation: AAH18707.1 Different initiation. |
CCDSi | CCDS41904.1 [Q5T4D3-1] CCDS66575.1 [Q5T4D3-4] CCDS9497.2 [Q5T4D3-3] |
RefSeqi | NP_001073137.1, NM_001079669.2 [Q5T4D3-1] NP_001273382.1, NM_001286453.1 [Q5T4D3-4] NP_116202.2, NM_032813.3 [Q5T4D3-3] XP_016876285.1, XM_017020796.1 |
3D structure databases
SMRi | Q5T4D3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124339, 50 interactors |
IntActi | Q5T4D3, 20 interactors |
STRINGi | 9606.ENSP00000343871 |
PTM databases
GlyGeni | Q5T4D3, 1 site |
iPTMneti | Q5T4D3 |
PhosphoSitePlusi | Q5T4D3 |
Genetic variation databases
BioMutai | TMTC4 |
DMDMi | 134035049 |
Proteomic databases
EPDi | Q5T4D3 |
jPOSTi | Q5T4D3 |
MassIVEi | Q5T4D3 |
MaxQBi | Q5T4D3 |
PaxDbi | Q5T4D3 |
PeptideAtlasi | Q5T4D3 |
PRIDEi | Q5T4D3 |
ProteomicsDBi | 64449 [Q5T4D3-1] 64450 [Q5T4D3-2] 64451 [Q5T4D3-3] 6752 |
Protocols and materials databases
Antibodypediai | 11042, 124 antibodies from 17 providers |
DNASUi | 84899 |
Genome annotation databases
Ensembli | ENST00000328767; ENSP00000365409; ENSG00000125247 [Q5T4D3-4] ENST00000342624; ENSP00000343871; ENSG00000125247 [Q5T4D3-3] ENST00000376234; ENSP00000365408; ENSG00000125247 |
GeneIDi | 84899 |
KEGGi | hsa:84899 |
MANE-Selecti | ENST00000342624.10; ENSP00000343871.5; NM_032813.5; NP_116202.2 [Q5T4D3-3] |
UCSCi | uc001vot.5, human [Q5T4D3-1] |
Organism-specific databases
CTDi | 84899 |
DisGeNETi | 84899 |
GeneCardsi | TMTC4 |
HGNCi | HGNC:25904, TMTC4 |
HPAi | ENSG00000125247, Tissue enhanced (brain) |
MIMi | 618203, gene |
neXtProti | NX_Q5T4D3 |
OpenTargetsi | ENSG00000125247 |
PharmGKBi | PA142670721 |
VEuPathDBi | HostDB:ENSG00000125247 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1124, Eukaryota |
GeneTreei | ENSGT00940000158521 |
HOGENOMi | CLU_011615_2_0_1 |
InParanoidi | Q5T4D3 |
OMAi | KAWANIL |
OrthoDBi | 1320023at2759 |
PhylomeDBi | Q5T4D3 |
TreeFami | TF328339 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
PathwayCommonsi | Q5T4D3 |
SignaLinki | Q5T4D3 |
Miscellaneous databases
BioGRID-ORCSi | 84899, 10 hits in 1046 CRISPR screens |
ChiTaRSi | TMTC4, human |
GeneWikii | TMTC4 |
GenomeRNAii | 84899 |
Pharosi | Q5T4D3, Tdark |
PROi | PR:Q5T4D3 |
RNActi | Q5T4D3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125247, Expressed in forebrain and 211 other tissues |
ExpressionAtlasi | Q5T4D3, baseline and differential |
Genevisiblei | Q5T4D3, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 3 hits |
InterProi | View protein in InterPro IPR013618, TMTC_DUF1736 IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat |
Pfami | View protein in Pfam PF08409, DUF1736, 1 hit PF13181, TPR_8, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 7 hits |
SUPFAMi | SSF48452, SSF48452, 1 hit |
PROSITEi | View protein in PROSITE PS50005, TPR, 7 hits PS50293, TPR_REGION, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TMTC4_HUMAN | |
Accessioni | Q5T4D3Primary (citable) accession number: Q5T4D3 Secondary accession number(s): A6NLI7 Q96SU8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | March 20, 2007 | |
Last modified: | February 23, 2022 | |
This is version 147 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families