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Protein

Transmembrane and TPR repeat-containing protein 4

Gene

TMTC4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and TPR repeat-containing protein 4
Gene namesi
Name:TMTC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:25904. TMTC4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei15 – 35HelicalSequence analysisAdd BLAST21
Transmembranei112 – 132HelicalSequence analysisAdd BLAST21
Transmembranei142 – 162HelicalSequence analysisAdd BLAST21
Transmembranei166 – 186HelicalSequence analysisAdd BLAST21
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Transmembranei269 – 288HelicalSequence analysisAdd BLAST20
Transmembranei318 – 337HelicalSequence analysisAdd BLAST20
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei383 – 403HelicalSequence analysisAdd BLAST21
Transmembranei413 – 433HelicalSequence analysisAdd BLAST21
Transmembranei441 – 461HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000125247.
PharmGKBiPA142670721.

Polymorphism and mutation databases

BioMutaiTMTC4.
DMDMi134035049.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802951 – 741Transmembrane and TPR repeat-containing protein 4Add BLAST741

Proteomic databases

MaxQBiQ5T4D3.
PaxDbiQ5T4D3.
PeptideAtlasiQ5T4D3.
PRIDEiQ5T4D3.

PTM databases

iPTMnetiQ5T4D3.
PhosphoSitePlusiQ5T4D3.

Expressioni

Gene expression databases

BgeeiENSG00000125247.
CleanExiHS_TMTC4.
ExpressionAtlasiQ5T4D3. baseline and differential.
GenevisibleiQ5T4D3. HS.

Organism-specific databases

HPAiHPA016489.

Interactioni

Protein-protein interaction databases

BioGridi124339. 23 interactors.
STRINGi9606.ENSP00000343871.

Structurei

3D structure databases

ProteinModelPortaliQ5T4D3.
SMRiQ5T4D3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati448 – 481TPR 1Add BLAST34
Repeati482 – 515TPR 2Add BLAST34
Repeati517 – 549TPR 3Add BLAST33
Repeati550 – 583TPR 4Add BLAST34
Repeati584 – 617TPR 5Add BLAST34
Repeati619 – 651TPR 6Add BLAST33
Repeati652 – 685TPR 7Add BLAST34
Repeati686 – 719TPR 8Add BLAST34

Sequence similaritiesi

Belongs to the TMTC family.Curated
Contains 8 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQRH. Eukaryota.
ENOG410XP5Q. LUCA.
GeneTreeiENSGT00550000074327.
HOGENOMiHOG000007190.
HOVERGENiHBG106148.
InParanoidiQ5T4D3.
OMAiQKVLHKD.
OrthoDBiEOG091G02QM.
PhylomeDBiQ5T4D3.
TreeFamiTF328339.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 7 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 7 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T4D3-1) [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
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
Length:741
Mass (Da):82,991
Last modified:March 20, 2007 - v2
Checksum:i42BB8FE4A7D86C98
GO
Isoform 2 (identifier: Q5T4D3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     594-612: YADLNRHVDALNAWRNATV → VSAGCPVPVEGKMGYFSYL
     613-741: Missing.

Note: No experimental confirmation available.
Show »
Length:612
Mass (Da):68,352
Checksum:i06E78C12152ACCD6
GO
Isoform 3 (identifier: Q5T4D3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MIPNQHNAGAGSHQPAVFRM

Note: No experimental confirmation available.
Show »
Length:760
Mass (Da):85,005
Checksum:iE99ED6CCBB24EF3D
GO
Isoform 4 (identifier: Q5T4D3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     55-165: Missing.

Note: No experimental confirmation available.
Show »
Length:630
Mass (Da):70,599
Checksum:iD7C6509D6DEA6903
GO

Sequence cautioni

The sequence AAH18707 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AK056409 differs from that shown. Reason: Frameshift at position 268.Curated
The sequence BAB55179 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI11004 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI11005 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI11006 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti441L → P in BAB55179 (PubMed:14702039).Curated1
Sequence conflicti504Y → N in BAB55179 (PubMed:14702039).Curated1
Sequence conflicti667K → E in BAB55179 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031117286V → M.Corresponds to variant rs3809371dbSNPEnsembl.1
Natural variantiVAR_031118419V → I.Corresponds to variant rs946837dbSNPEnsembl.1
Natural variantiVAR_036455655M → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs144940475dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0382611M → MIPNQHNAGAGSHQPAVFRM in isoform 3. 1 Publication1
Alternative sequenceiVSP_05487355 – 165Missing in isoform 4. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_023622594 – 612YADLN…RNATV → VSAGCPVPVEGKMGYFSYL in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_023623613 – 741Missing in isoform 2. 1 PublicationAdd BLAST129

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. Translation: CAI11004.1. Sequence problems.
AL359085 Genomic DNA. Translation: CAI11005.1. Sequence problems.
AL359085 Genomic DNA. Translation: CAI11006.1. Sequence problems.
AL359085 Genomic DNA. Translation: CAI11007.1.
BC018707 mRNA. Translation: AAH18707.1. Different initiation.
CCDSiCCDS41904.1. [Q5T4D3-1]
CCDS66575.1. [Q5T4D3-4]
CCDS9497.2. [Q5T4D3-3]
RefSeqiNP_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. [Q5T4D3-1]
UniGeneiHs.190983.

Genome annotation databases

EnsembliENST00000328767; ENSP00000365409; ENSG00000125247. [Q5T4D3-4]
ENST00000342624; ENSP00000343871; ENSG00000125247. [Q5T4D3-3]
ENST00000376234; ENSP00000365408; ENSG00000125247. [Q5T4D3-1]
GeneIDi84899.
KEGGihsa:84899.
UCSCiuc001vot.5. human. [Q5T4D3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAI11004.1. Sequence problems.
AL359085 Genomic DNA. Translation: CAI11005.1. Sequence problems.
AL359085 Genomic DNA. Translation: CAI11006.1. Sequence problems.
AL359085 Genomic DNA. Translation: CAI11007.1.
BC018707 mRNA. Translation: AAH18707.1. Different initiation.
CCDSiCCDS41904.1. [Q5T4D3-1]
CCDS66575.1. [Q5T4D3-4]
CCDS9497.2. [Q5T4D3-3]
RefSeqiNP_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. [Q5T4D3-1]
UniGeneiHs.190983.

3D structure databases

ProteinModelPortaliQ5T4D3.
SMRiQ5T4D3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124339. 23 interactors.
STRINGi9606.ENSP00000343871.

PTM databases

iPTMnetiQ5T4D3.
PhosphoSitePlusiQ5T4D3.

Polymorphism and mutation databases

BioMutaiTMTC4.
DMDMi134035049.

Proteomic databases

MaxQBiQ5T4D3.
PaxDbiQ5T4D3.
PeptideAtlasiQ5T4D3.
PRIDEiQ5T4D3.

Protocols and materials databases

DNASUi84899.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328767; ENSP00000365409; ENSG00000125247. [Q5T4D3-4]
ENST00000342624; ENSP00000343871; ENSG00000125247. [Q5T4D3-3]
ENST00000376234; ENSP00000365408; ENSG00000125247. [Q5T4D3-1]
GeneIDi84899.
KEGGihsa:84899.
UCSCiuc001vot.5. human. [Q5T4D3-1]

Organism-specific databases

CTDi84899.
GeneCardsiTMTC4.
HGNCiHGNC:25904. TMTC4.
HPAiHPA016489.
neXtProtiNX_Q5T4D3.
OpenTargetsiENSG00000125247.
PharmGKBiPA142670721.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQRH. Eukaryota.
ENOG410XP5Q. LUCA.
GeneTreeiENSGT00550000074327.
HOGENOMiHOG000007190.
HOVERGENiHBG106148.
InParanoidiQ5T4D3.
OMAiQKVLHKD.
OrthoDBiEOG091G02QM.
PhylomeDBiQ5T4D3.
TreeFamiTF328339.

Miscellaneous databases

ChiTaRSiTMTC4. human.
GeneWikiiTMTC4.
GenomeRNAii84899.
PROiQ5T4D3.

Gene expression databases

BgeeiENSG00000125247.
CleanExiHS_TMTC4.
ExpressionAtlasiQ5T4D3. baseline and differential.
GenevisibleiQ5T4D3. HS.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF08409. DUF1736. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 7 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 7 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMTC4_HUMAN
AccessioniPrimary (citable) accession number: Q5T4D3
Secondary accession number(s): A6NLI7
, B7Z666, Q5T4D4, Q5T4D5, Q5T4D6, Q8WV63, Q96SU8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: November 2, 2016
This is version 113 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 13
    Human chromosome 13: 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. 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.