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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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei15 – 3521HelicalSequence analysisAdd
BLAST
Transmembranei112 – 13221HelicalSequence analysisAdd
BLAST
Transmembranei142 – 16221HelicalSequence analysisAdd
BLAST
Transmembranei166 – 18621HelicalSequence analysisAdd
BLAST
Transmembranei199 – 21921HelicalSequence analysisAdd
BLAST
Transmembranei225 – 24521HelicalSequence analysisAdd
BLAST
Transmembranei269 – 28820HelicalSequence analysisAdd
BLAST
Transmembranei318 – 33720HelicalSequence analysisAdd
BLAST
Transmembranei355 – 37521HelicalSequence analysisAdd
BLAST
Transmembranei383 – 40321HelicalSequence analysisAdd
BLAST
Transmembranei413 – 43321HelicalSequence analysisAdd
BLAST
Transmembranei441 – 46121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670721.

Polymorphism and mutation databases

BioMutaiTMTC4.
DMDMi134035049.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 741741Transmembrane and TPR repeat-containing protein 4PRO_0000280295Add
BLAST

Proteomic databases

EPDiQ5T4D3.
MaxQBiQ5T4D3.
PaxDbiQ5T4D3.
PRIDEiQ5T4D3.

PTM databases

iPTMnetiQ5T4D3.
PhosphoSiteiQ5T4D3.

Expressioni

Gene expression databases

BgeeiQ5T4D3.
CleanExiHS_TMTC4.
ExpressionAtlasiQ5T4D3. baseline and differential.
GenevisibleiQ5T4D3. HS.

Organism-specific databases

HPAiHPA016489.

Interactioni

Protein-protein interaction databases

BioGridi124339. 23 interactions.
STRINGi9606.ENSP00000343871.

Structurei

3D structure databases

ProteinModelPortaliQ5T4D3.
SMRiQ5T4D3. Positions 462-732.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati448 – 48134TPR 1Add
BLAST
Repeati482 – 51534TPR 2Add
BLAST
Repeati517 – 54933TPR 3Add
BLAST
Repeati550 – 58334TPR 4Add
BLAST
Repeati584 – 61734TPR 5Add
BLAST
Repeati619 – 65133TPR 6Add
BLAST
Repeati652 – 68534TPR 7Add
BLAST
Repeati686 – 71934TPR 8Add
BLAST

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.
OrthoDBiEOG7PCJGT.
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 AAH18707.1 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 BAB55179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI11004.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI11005.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI11006.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti441 – 4411L → P in BAB55179 (PubMed:14702039).Curated
Sequence conflicti504 – 5041Y → N in BAB55179 (PubMed:14702039).Curated
Sequence conflicti667 – 6671K → E in BAB55179 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti286 – 2861V → M.
Corresponds to variant rs3809371 [ dbSNP | Ensembl ].
VAR_031117
Natural varianti419 – 4191V → I.
Corresponds to variant rs946837 [ dbSNP | Ensembl ].
VAR_031118
Natural varianti655 – 6551M → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036455

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MIPNQHNAGAGSHQPAVFRM in isoform 3. 1 PublicationVSP_038261
Alternative sequencei55 – 165111Missing in isoform 4. 1 PublicationVSP_054873Add
BLAST
Alternative sequencei594 – 61219YADLN…RNATV → VSAGCPVPVEGKMGYFSYL in isoform 2. 1 PublicationVSP_023622Add
BLAST
Alternative sequencei613 – 741129Missing in isoform 2. 1 PublicationVSP_023623Add
BLAST

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]
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]
UniGeneiHs.190983.

3D structure databases

ProteinModelPortaliQ5T4D3.
SMRiQ5T4D3. Positions 462-732.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124339. 23 interactions.
STRINGi9606.ENSP00000343871.

PTM databases

iPTMnetiQ5T4D3.
PhosphoSiteiQ5T4D3.

Polymorphism and mutation databases

BioMutaiTMTC4.
DMDMi134035049.

Proteomic databases

EPDiQ5T4D3.
MaxQBiQ5T4D3.
PaxDbiQ5T4D3.
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.
PharmGKBiPA142670721.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQRH. Eukaryota.
ENOG410XP5Q. LUCA.
GeneTreeiENSGT00550000074327.
HOGENOMiHOG000007190.
HOVERGENiHBG106148.
InParanoidiQ5T4D3.
OMAiQKVLHKD.
OrthoDBiEOG7PCJGT.
PhylomeDBiQ5T4D3.
TreeFamiTF328339.

Miscellaneous databases

ChiTaRSiTMTC4. human.
GeneWikiiTMTC4.
GenomeRNAii84899.
PROiQ5T4D3.

Gene expression databases

BgeeiQ5T4D3.
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...

Publicationsi

  1. "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] (ISOFORMS 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 222-741 (ISOFORM 1).
    Tissue: Brain and Teratocarcinoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Endometrial adenocarcinoma.
  3. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] OF 196-741 (ISOFORM 2).
    Tissue: Skin.
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-655.

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: June 8, 2016
This is version 109 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.