Q5T4D3 (TMTC4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane and TPR repeat-containing protein 4

Gene names

Name:

TMTC4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	741 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the TMTC family. Contains 8 TPR repeats.
Sequence caution	The sequence AAH18707.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AK056409 differs from that shown. Reason: Frameshift at position 268. The sequence BAB55179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAI11004.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI11005.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI11006.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat TPR repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5T4D3-1)

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.

Isoform 2 (identifier: Q5T4D3-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5T4D3-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 741	741	Transmembrane and TPR repeat-containing protein 4		PRO_0000280295
Regions
	Transmembrane	15 – 35	21	Helical; Potential
	Transmembrane	112 – 132	21	Helical; Potential
	Transmembrane	142 – 162	21	Helical; Potential
	Transmembrane	166 – 186	21	Helical; Potential
	Transmembrane	199 – 219	21	Helical; Potential
	Transmembrane	225 – 245	21	Helical; Potential
	Transmembrane	269 – 288	20	Helical; Potential
	Transmembrane	318 – 337	20	Helical; Potential
	Transmembrane	355 – 375	21	Helical; Potential
	Transmembrane	383 – 403	21	Helical; Potential
	Transmembrane	413 – 433	21	Helical; Potential
	Transmembrane	441 – 461	21	Helical; Potential
	Repeat	448 – 481	34	TPR 1
	Repeat	482 – 515	34	TPR 2
	Repeat	517 – 549	33	TPR 3
	Repeat	550 – 583	34	TPR 4
	Repeat	584 – 617	34	TPR 5
	Repeat	619 – 651	33	TPR 6
	Repeat	652 – 685	34	TPR 7
	Repeat	686 – 719	34	TPR 8
Natural variations
	Alternative sequence	1	1	M → MIPNQHNAGAGSHQPAVFRM in isoform 3.		VSP_038261
	Alternative sequence	594 – 612	19	YADLN…RNATV → VSAGCPVPVEGKMGYFSYL in isoform 2.		VSP_023622
	Alternative sequence	613 – 741	129	Missing in isoform 2.		VSP_023623
	Natural variant	286	1	V → M. Corresponds to variant rs3809371 [ dbSNP | Ensembl ].		VAR_031117
	Natural variant	419	1	V → I. Corresponds to variant rs946837 [ dbSNP | Ensembl ].		VAR_031118
	Natural variant	655	1	M → V in a breast cancer sample; somatic mutation. Ref.5		VAR_036455
Experimental info
	Sequence conflict	441	1	L → P in BAB55179. Ref.1
	Sequence conflict	504	1	Y → N in BAB55179. Ref.1
	Sequence conflict	667	1	K → E in BAB55179. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 20, 2007. Version 2. Checksum: 42BB8FE4A7D86C98	FASTA	741	82,991
	10 20 30 40 50 60 MAVLDTDLDH ILPSSVLPPF WAKLVVGSVA IVCFARSYDG DFVFDDSEAI VNNKDLQAET 70 80 90 100 110 120 PLGDLWHHDF WGSRLSSNTS HKSYRPLTVL TFRINYYLSG GFHPVGFHVV NILLHSGISV 130 140 150 160 170 180 LMVDVFSVLF GGLQYTSKGR RLHLAPRASL LAALLFAVHP VHTECVAGVV GRADLLCALF 190 200 210 220 230 240 FLLSFLGYCK AFRESNKEGA HSSTFWVLLS IFLGAVAMLC KEQGITVLGL NAVFDILVIG 250 260 270 280 290 300 KFNVLEIVQK VLHKDKSLEN LGMLRNGGLL FRMTLLTSGG AGMLYVRWRI MGTGPPAFTE 310 320 330 340 350 360 VDNPASFADS MLVRAVNYNY YYSLNAWLLL CPWWLCFDWS MGCIPLIKSI SDWRVIALAA 370 380 390 400 410 420 LWFCLIGLIC QALCSEDGHK RRILTLGLGF LVIPFLPASN LFFRVGFVVA ERVLYLPSVG 430 440 450 460 470 480 YCVLLTFGFG ALSKHTKKKK LIAAVVLGIL FINTLRCVLR SGEWRSEEQL FRSALSVCPL 490 500 510 520 530 540 NAKVHYNIGK NLADKGNQTA AIRYYREAVR LNPKYVHAMN NLGNILKERN ELQEAEELLS 550 560 570 580 590 600 LAVQIQPDFA AAWMNLGIVQ NSLKRFEAAE QSYRTAIKHR RKYPDCYYNL GRLYADLNRH 610 620 630 640 650 660 VDALNAWRNA TVLKPEHSLA WNNMIILLDN TGNLAQAEAV GREALELIPN DHSLMFSLAN 670 680 690 700 710 720 VLGKSQKYKE SEALFLKAIK ANPNAASYHG NLAVLYHRWG HLDLAKKHYE ISLQLDPTAS 730 740 GTKENYGLLR RKLELMQKKA V
	Isoform 2 [UniParc]. Checksum: 06E78C12152ACCD6	FASTA	612	68,352
	10 20 30 40 50 60 MAVLDTDLDH ILPSSVLPPF WAKLVVGSVA IVCFARSYDG DFVFDDSEAI VNNKDLQAET 70 80 90 100 110 120 PLGDLWHHDF WGSRLSSNTS HKSYRPLTVL TFRINYYLSG GFHPVGFHVV NILLHSGISV 130 140 150 160 170 180 LMVDVFSVLF GGLQYTSKGR RLHLAPRASL LAALLFAVHP VHTECVAGVV GRADLLCALF 190 200 210 220 230 240 FLLSFLGYCK AFRESNKEGA HSSTFWVLLS IFLGAVAMLC KEQGITVLGL NAVFDILVIG 250 260 270 280 290 300 KFNVLEIVQK VLHKDKSLEN LGMLRNGGLL FRMTLLTSGG AGMLYVRWRI MGTGPPAFTE 310 320 330 340 350 360 VDNPASFADS MLVRAVNYNY YYSLNAWLLL CPWWLCFDWS MGCIPLIKSI SDWRVIALAA 370 380 390 400 410 420 LWFCLIGLIC QALCSEDGHK RRILTLGLGF LVIPFLPASN LFFRVGFVVA ERVLYLPSVG 430 440 450 460 470 480 YCVLLTFGFG ALSKHTKKKK LIAAVVLGIL FINTLRCVLR SGEWRSEEQL FRSALSVCPL 490 500 510 520 530 540 NAKVHYNIGK NLADKGNQTA AIRYYREAVR LNPKYVHAMN NLGNILKERN ELQEAEELLS 550 560 570 580 590 600 LAVQIQPDFA AAWMNLGIVQ NSLKRFEAAE QSYRTAIKHR RKYPDCYYNL GRLVSAGCPV 610 PVEGKMGYFS YL
	Isoform 3 [UniParc]. Checksum: E99ED6CCBB24EF3D	FASTA	760	85,005
	10 20 30 40 50 60 MIPNQHNAGA GSHQPAVFRM AVLDTDLDHI LPSSVLPPFW AKLVVGSVAI VCFARSYDGD 70 80 90 100 110 120 FVFDDSEAIV NNKDLQAETP LGDLWHHDFW GSRLSSNTSH KSYRPLTVLT FRINYYLSGG 130 140 150 160 170 180 FHPVGFHVVN ILLHSGISVL MVDVFSVLFG GLQYTSKGRR LHLAPRASLL AALLFAVHPV 190 200 210 220 230 240 HTECVAGVVG RADLLCALFF LLSFLGYCKA FRESNKEGAH SSTFWVLLSI FLGAVAMLCK 250 260 270 280 290 300 EQGITVLGLN AVFDILVIGK FNVLEIVQKV LHKDKSLENL GMLRNGGLLF RMTLLTSGGA 310 320 330 340 350 360 GMLYVRWRIM GTGPPAFTEV DNPASFADSM LVRAVNYNYY YSLNAWLLLC PWWLCFDWSM 370 380 390 400 410 420 GCIPLIKSIS DWRVIALAAL WFCLIGLICQ ALCSEDGHKR RILTLGLGFL VIPFLPASNL 430 440 450 460 470 480 FFRVGFVVAE RVLYLPSVGY CVLLTFGFGA LSKHTKKKKL IAAVVLGILF INTLRCVLRS 490 500 510 520 530 540 GEWRSEEQLF RSALSVCPLN AKVHYNIGKN LADKGNQTAA IRYYREAVRL NPKYVHAMNN 550 560 570 580 590 600 LGNILKERNE LQEAEELLSL AVQIQPDFAA AWMNLGIVQN SLKRFEAAEQ SYRTAIKHRR 610 620 630 640 650 660 KYPDCYYNLG RLYADLNRHV DALNAWRNAT VLKPEHSLAW NNMIILLDNT GNLAQAEAVG 670 680 690 700 710 720 REALELIPND HSLMFSLANV LGKSQKYKES EALFLKAIKA NPNAASYHGN LAVLYHRWGH 730 740 750 760 LDLAKKHYEI SLQLDPTASG TKENYGLLRR KLELMQKKAV

References

[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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 222-741 (ISOFORM 1). Tissue: Teratocarcinoma.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-655.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK056409 mRNA. No translation available. AK027530 mRNA. Translation: BAB55179.1. Different initiation. 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.
IPI	IPI00514153. IPI00646732. IPI00953037.
RefSeq	NP_001073137.1. NM_001079669.1. NP_116202.2. NM_032813.2.
UniGene	Hs.741264.
3D structure databases
HSSP	HSSP built from PDB template 1W3B based on UniProtKB O15294.
ProteinModelPortal	Q5T4D3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000343452.
PTM databases
PhosphoSite	Q5T4D3.
Polymorphism databases
DMDM	134035049.
Proteomic databases
PaxDb	Q5T4D3.
PRIDE	Q5T4D3.
Protocols and materials databases
DNASU	84899.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342624; ENSP00000343871; ENSG00000125247. ENST00000376234; ENSP00000365408; ENSG00000125247. ENST00000423847; ENSP00000398400; ENSG00000125247.
GeneID	84899.
KEGG	hsa:84899.
UCSC	uc001vot.3. human. uc001vou.3. human. uc001vov.1. human.
Organism-specific databases
CTD	84899.
GeneCards	GC13M101256.
HGNC	HGNC:25904. TMTC4.
HPA	HPA016489.
neXtProt	NX_Q5T4D3.
PharmGKB	PA142670721.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0457.
HOVERGEN	HBG106148.
InParanoid	Q5T4D3.
OMA	GYCMLLT.
OrthoDB	EOG473PQV.
Gene expression databases
ArrayExpress	Q5T4D3.
Bgee	Q5T4D3.
CleanEx	HS_TMTC4.
Genevestigator	Q5T4D3.
Family and domain databases
Gene3D	1.25.40.10. 1 hit.
InterPro	IPR013618. DUF1736. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view]
Pfam	PF08409. DUF1736. 1 hit. [Graphical view]
SMART	SM00028. TPR. 7 hits. [Graphical view]
PROSITE	PS50005. TPR. 7 hits. PS50293. TPR_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TMTC4. human.
GenomeRNAi	84899.
NextBio	75256.

Entry information

Entry name

TMTC4_HUMAN

Accession

Primary (citable) accession number: Q5T4D3
Secondary accession number(s): A6NLI7 , Q5T4D4, Q5T4D5, Q5T4D6, Q8WV63, Q96SU8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	March 20, 2007
Last modified:	May 1, 2013
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.