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Protein

Transmembrane and TPR repeat-containing protein 1

Gene

TMTC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and TPR repeat-containing protein 1
Gene namesi
Name:TMTC1
ORF Names:ARG99
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:24099. TMTC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei21 – 41HelicalSequence analysisAdd BLAST21
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Transmembranei198 – 218HelicalSequence analysisAdd BLAST21
Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei382 – 402HelicalSequence analysisAdd BLAST21
Transmembranei404 – 424HelicalSequence analysisAdd BLAST21
Transmembranei439 – 459HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi83857.
OpenTargetsiENSG00000133687.
PharmGKBiPA142670718.

Polymorphism and mutation databases

BioMutaiTMTC1.
DMDMi347595775.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802881 – 882Transmembrane and TPR repeat-containing protein 1Add BLAST882

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi184N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8IUR5.
PeptideAtlasiQ8IUR5.
PRIDEiQ8IUR5.

PTM databases

iPTMnetiQ8IUR5.
PhosphoSitePlusiQ8IUR5.

Expressioni

Gene expression databases

BgeeiENSG00000133687.
CleanExiHS_TMTC1.
ExpressionAtlasiQ8IUR5. baseline and differential.
GenevisibleiQ8IUR5. HS.

Organism-specific databases

HPAiHPA016720.

Interactioni

Subunit structurei

May interact with FAM168B.

Protein-protein interaction databases

BioGridi123773. 3 interactors.
IntActiQ8IUR5. 2 interactors.
MINTiMINT-8383569.
STRINGi9606.ENSP00000442046.

Structurei

3D structure databases

ProteinModelPortaliQ8IUR5.
SMRiQ8IUR5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati483 – 516TPR 1Add BLAST34
Repeati518 – 547TPR 2Add BLAST30
Repeati548 – 581TPR 3Add BLAST34
Repeati583 – 615TPR 4Add BLAST33
Repeati616 – 649TPR 5Add BLAST34
Repeati650 – 683TPR 6Add BLAST34
Repeati684 – 716TPR 7Add BLAST33
Repeati751 – 784TPR 8Add BLAST34
Repeati789 – 822TPR 9Add BLAST34
Repeati823 – 856TPR 10Add BLAST34

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.
HOVERGENiHBG106148.
InParanoidiQ8IUR5.
PhylomeDBiQ8IUR5.
TreeFamiTF328339.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR013618. DUF1736.
IPR003107. HAT.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF07719. TPR_2. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00386. HAT. 3 hits.
SM00028. TPR. 10 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 5 (identifier: Q8IUR5-5) [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
MVVTTSARGG GGDRTPSRRR GCGLAPAGAA ALLAGASCLC YGRSLQGEFV
60 70 80 90 100
HDDVWAIVNN PDVRPGAPLR WGIFTNDFWG KGMAENTSHK SYRPLCVLTF
110 120 130 140 150
KLNIFLTGMN PFYFHAVNII LHCLVTLVLM YTCDKTVFKN RGLAFVTALL
160 170 180 190 200
FAVHPIHTEA VAGIVGRADV LACLLFLLAF LSYNRSLDQG CVGGSFPSTV
210 220 230 240 250
SPFFLLLSLF LGTCAMLVKE TGITVFGVCL VYDLFSLSNK QDKSSNGALC
260 270 280 290 300
PRSPQQPGSP QPSSLPGHPH RENGKQQRFP HKGAWGGCHS PLPPEPKSSG
310 320 330 340 350
FPVSPRAVWS MMRFLTYSYL LAFNVWLLLA PVTLCYDWQV GSIPLVETIW
360 370 380 390 400
DMRNLATIFL AVVMALLSLH CLAAFKRLEH KEVLVGLLFL VFPFIPASNL
410 420 430 440 450
FFRVGFVVAE RVLYMPSMGY CILFVHGLSK LCTWLNRCGA TTLIVSTVLL
460 470 480 490 500
LLLFSWKTVK QNEIWLSRES LFRSGVQTLP HNAKVHYNYA NFLKDQGRNK
510 520 530 540 550
EAIYHYRTAL KLYPRHASAL NNLGTLTRDT AEAKMYYQRA LQLHPQHNRA
560 570 580 590 600
LFNLGNLLKS QEKKEEAITL LKDSIKYGPE FADAYSSLAS LLAEQERFKE
610 620 630 640 650
AEEIYQTGIK NCPDSSDLHN NYGVFLVDTG LPEKAVAHYQ QAIKLSPSHH
660 670 680 690 700
VAMVNLGRLY RSLGENSMAE EWYKRALQVA HKAEILSPLG ALYYNTGRYE
710 720 730 740 750
EALQIYQEAA ALQPSQRELR LALAQVLAVM GQTKEAEKMT NHIVSEETGC
760 770 780 790 800
LECYRLLSAI YSKQENHDKA LDAIDKALQL KPKDPKVISE LFFTKGNQLR
810 820 830 840 850
EQNLLDKAFE SYRVAVQLNP DQAQAWMNMG GIQHIKGKYV SARAYYERAL
860 870 880
QLVPDSKLLK ENLAKLDRLE KRLQEVREKD QT
Length:882
Mass (Da):98,847
Last modified:September 21, 2011 - v3
Checksum:i5E4E0B1453C8AAC0
GO
Isoform 1 (identifier: Q8IUR5-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.

Show »
Length:774
Mass (Da):87,338
Checksum:i581E5B9CF1EECDC1
GO
Isoform 2 (identifier: Q8IUR5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-312: SNKQDKSSNG...VSPRAVWSMM → MTKQDSASKK...PASFSPYILT

Note: No experimental confirmation available.
Show »
Length:645
Mass (Da):73,982
Checksum:i7921799C6F773F78
GO
Isoform 3 (identifier: Q8IUR5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.
     312-312: M → MRYLRASSNRNFLLTMRPFLKRAILVLSYVLVILYFRLWIMGGSMPLFSEQDNPASFSPYILT
     596-620: ERFKEAEEIYQTGIKNCPDSSDLHN → VIVSHSSFFQCYCYMYKLMLHRFLY
     621-882: Missing.

Note: No experimental confirmation available.
Show »
Length:574
Mass (Da):65,021
Checksum:i53A7A270B3437DB9
GO
Isoform 4 (identifier: Q8IUR5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-652: Missing.
     672-675: WYKR → C

Note: No experimental confirmation available.
Show »
Length:227
Mass (Da):25,859
Checksum:i3357413F194C2B78
GO

Sequence cautioni

The sequence AAK32121 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031112814V → L.1 PublicationCorresponds to variant rs17854190dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0236111 – 652Missing in isoform 4. 1 PublicationAdd BLAST652
Alternative sequenceiVSP_0236121 – 237Missing in isoform 2. 1 PublicationAdd BLAST237
Alternative sequenceiVSP_0418231 – 108Missing in isoform 1 and isoform 3. 2 PublicationsAdd BLAST108
Alternative sequenceiVSP_023613238 – 312SNKQD…VWSMM → MTKQDSASKKKKKRYLRASS NRNFLLTMRPFLKRAILVLS YVLVILYFRLWIMGGSMPLF SEQDNPASFSPYILT in isoform 2. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_023614312M → MRYLRASSNRNFLLTMRPFL KRAILVLSYVLVILYFRLWI MGGSMPLFSEQDNPASFSPY ILT in isoform 3. 1 Publication1
Alternative sequenceiVSP_023615596 – 620ERFKE…SDLHN → VIVSHSSFFQCYCYMYKLML HRFLY in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_023616621 – 882Missing in isoform 3. 1 PublicationAdd BLAST262
Alternative sequenceiVSP_023617672 – 675WYKR → C in isoform 4. 1 Publication4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
GQ865601 mRNA. Translation: ACX30004.1.
AK055962 mRNA. Translation: BAB71057.1.
AK127297 mRNA. Translation: BAC86923.1.
AC009320 Genomic DNA. No translation available.
AC009510 Genomic DNA. No translation available.
AC012151 Genomic DNA. No translation available.
AC022078 Genomic DNA. No translation available.
BC028716 mRNA. Translation: AAH28716.1.
BC042083 mRNA. Translation: AAH42083.1.
AF319520 mRNA. Translation: AAK32121.1. Different initiation.
CCDSiCCDS53772.1. [Q8IUR5-5]
CCDS8718.1. [Q8IUR5-1]
RefSeqiNP_001180380.1. NM_001193451.1. [Q8IUR5-5]
NP_787057.2. NM_175861.3. [Q8IUR5-1]
UniGeneiHs.401954.
Hs.737514.

Genome annotation databases

EnsembliENST00000256062; ENSP00000256062; ENSG00000133687. [Q8IUR5-1]
ENST00000539277; ENSP00000442046; ENSG00000133687. [Q8IUR5-5]
GeneIDi83857.
KEGGihsa:83857.
UCSCiuc001rjb.4. human. [Q8IUR5-5]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
GQ865601 mRNA. Translation: ACX30004.1.
AK055962 mRNA. Translation: BAB71057.1.
AK127297 mRNA. Translation: BAC86923.1.
AC009320 Genomic DNA. No translation available.
AC009510 Genomic DNA. No translation available.
AC012151 Genomic DNA. No translation available.
AC022078 Genomic DNA. No translation available.
BC028716 mRNA. Translation: AAH28716.1.
BC042083 mRNA. Translation: AAH42083.1.
AF319520 mRNA. Translation: AAK32121.1. Different initiation.
CCDSiCCDS53772.1. [Q8IUR5-5]
CCDS8718.1. [Q8IUR5-1]
RefSeqiNP_001180380.1. NM_001193451.1. [Q8IUR5-5]
NP_787057.2. NM_175861.3. [Q8IUR5-1]
UniGeneiHs.401954.
Hs.737514.

3D structure databases

ProteinModelPortaliQ8IUR5.
SMRiQ8IUR5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123773. 3 interactors.
IntActiQ8IUR5. 2 interactors.
MINTiMINT-8383569.
STRINGi9606.ENSP00000442046.

PTM databases

iPTMnetiQ8IUR5.
PhosphoSitePlusiQ8IUR5.

Polymorphism and mutation databases

BioMutaiTMTC1.
DMDMi347595775.

Proteomic databases

PaxDbiQ8IUR5.
PeptideAtlasiQ8IUR5.
PRIDEiQ8IUR5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256062; ENSP00000256062; ENSG00000133687. [Q8IUR5-1]
ENST00000539277; ENSP00000442046; ENSG00000133687. [Q8IUR5-5]
GeneIDi83857.
KEGGihsa:83857.
UCSCiuc001rjb.4. human. [Q8IUR5-5]

Organism-specific databases

CTDi83857.
DisGeNETi83857.
GeneCardsiTMTC1.
HGNCiHGNC:24099. TMTC1.
HPAiHPA016720.
MIMi615855. gene.
neXtProtiNX_Q8IUR5.
OpenTargetsiENSG00000133687.
PharmGKBiPA142670718.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1124. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00550000074327.
HOVERGENiHBG106148.
InParanoidiQ8IUR5.
PhylomeDBiQ8IUR5.
TreeFamiTF328339.

Miscellaneous databases

ChiTaRSiTMTC1. human.
GenomeRNAii83857.
PROiQ8IUR5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133687.
CleanExiHS_TMTC1.
ExpressionAtlasiQ8IUR5. baseline and differential.
GenevisibleiQ8IUR5. HS.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR013618. DUF1736.
IPR003107. HAT.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF07719. TPR_2. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00386. HAT. 3 hits.
SM00028. TPR. 10 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMTC1_HUMAN
AccessioniPrimary (citable) accession number: Q8IUR5
Secondary accession number(s): D0EP37
, F5H8B5, Q6PIU4, Q6ZSM5, Q96N52, Q9BXM2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: September 21, 2011
Last modified: November 2, 2016
This is version 124 of the entry and version 3 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. 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

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.