P57727 (TMPS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protease serine 3
EC=3.4.21.-

Alternative name(s):
Serine protease TADG-12
Tumor-associated differentially-expressed gene 12 protein

Gene names

Name:	TMPRSS3
Synonyms:	ECHOS1, TADG12
ORF Names:	UNQ323/PRO382

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	454 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable serine protease that play a role in hearing. Acts as a permissive factor for cochlear hair cells survival and activation at the onset of hearing and is required for saccular hair cell survival By similarity. Activates ENaC (in vitro). Ref.7
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein Ref.7.
Tissue specificity	Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
Post-translational modification	Undergoes autoproteolytic activation.
Involvement in disease	Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Belongs to the peptidase S1 family. Contains 1 LDL-receptor class A domain. Contains 1 peptidase S1 domain. Contains 1 SRCR domain.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation Non-syndromic deafness
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Hydrolase Protease Serine protease
PTM	Disulfide bond Glycoprotein Zymogen
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular sodium ion homeostasis Inferred from direct assay Ref.7. Source: MGI proteolysis Non-traceable author statement Ref.1. Source: UniProtKB sensory perception of sound Inferred from electronic annotation. Source: Compara
Cellular_component	endoplasmic reticulum membrane Inferred from direct assay PubMed 17918732. Source: UniProtKB integral to membrane Non-traceable author statement Ref.1Ref.2. Source: UniProtKB neuronal cell body Inferred from electronic annotation. Source: Compara
Molecular_function	scavenger receptor activity Inferred from electronic annotation. Source: InterPro serine-type endopeptidase activity Non-traceable author statement Ref.1Ref.2. Source: UniProtKB sodium channel regulator activity Inferred from direct assay Ref.7. Source: MGI
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform A (identifier: P57727-1)

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 B (identifier: P57727-2)

Also known as: C;

The sequence of this isoform differs from the canonical sequence as follows:
     1-127: Missing.

Isoform D (identifier: P57727-3)

The sequence of this isoform differs from the canonical sequence as follows:
     318-454: EMIQPVCLPN...HEQMERDLKT → GTSGSLCGSAALPLFQEDLQLLIEAFL

Isoform T (identifier: P57727-4)

Also known as: Truncated; TADG-12V;

The sequence of this isoform differs from the canonical sequence as follows:
     261-293: DLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYH → EIVAPRERADRRGRKLLCWRKPTKMKGPRPSHS
     294-454: Missing.

Isoform E (identifier: P57727-5)

The sequence of this isoform differs from the canonical sequence as follows:
     350-350: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 454	454	Transmembrane protease serine 3		PRO_0000088690
Regions
	Topological domain	1 – 48	48	Cytoplasmic Potential
	Transmembrane	49 – 69	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	70 – 454	385	Extracellular Potential
	Domain	72 – 108	37	LDL-receptor class A
	Domain	109 – 205	97	SRCR
	Domain	217 – 449	233	Peptidase S1
Sites
	Active site	257	1	Charge relay system By similarity
	Active site	304	1	Charge relay system By similarity
	Active site	401	1	Charge relay system Probable
	Site	216 – 217	2	Cleavage Potential
Amino acid modifications
	Glycosylation	221	1	N-linked (GlcNAc...) Potential
	Disulfide bond	73 ↔ 85		By similarity
	Disulfide bond	79 ↔ 98		By similarity
	Disulfide bond	92 ↔ 107		By similarity
	Disulfide bond	129 ↔ 194		By similarity
	Disulfide bond	142 ↔ 204		By similarity
	Disulfide bond	207 ↔ 324		By similarity
	Disulfide bond	242 ↔ 258		By similarity
	Disulfide bond	338 ↔ 407		By similarity
	Disulfide bond	370 ↔ 386		By similarity
	Disulfide bond	397 ↔ 425		By similarity
Natural variations
	Alternative sequence	1 – 127	127	Missing in isoform B.		VSP_005391
	Alternative sequence	261 – 293	33	DLYLP…KIVYH → EIVAPRERADRRGRKLLCWR KPTKMKGPRPSHS in isoform T.		VSP_005393
	Alternative sequence	294 – 454	161	Missing in isoform T.		VSP_005394
	Alternative sequence	318 – 454	137	EMIQP…RDLKT → GTSGSLCGSAALPLFQEDLQ LLIEAFL in isoform D.		VSP_005392
	Alternative sequence	350	1	Missing in isoform E.		VSP_013184
	Natural variant	53	1	V → I. Ref.2 Ref.9 Corresponds to variant rs928302 [ dbSNP | Ensembl ].		VAR_010781
	Natural variant	103	1	D → G in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7 Ref.10		VAR_013490
	Natural variant	109	1	R → W in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7 Ref.9		VAR_013491
	Natural variant	111	1	G → S. Ref.9 Corresponds to variant rs35227181 [ dbSNP | Ensembl ].		VAR_013492
	Natural variant	173	1	D → N. Ref.10		VAR_013493
	Natural variant	194	1	C → F in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7 Ref.9		VAR_013494
	Natural variant	216	1	R → L in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.11		VAR_025354
	Natural variant	251	1	W → C in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7 Ref.8		VAR_011678
	Natural variant	253	1	I → V. Ref.9 Corresponds to variant rs2839500 [ dbSNP | Ensembl ].		VAR_013101
	Natural variant	404	1	P → L in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7 Ref.8 Ref.11		VAR_011679
	Natural variant	407	1	C → R in DFBN8; fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7 Ref.9		VAR_013495
	Natural variant	426	1	A → T. Ref.10 Corresponds to variant rs56264519 [ dbSNP | Ensembl ].		VAR_013496
Experimental info
	Mutagenesis	401	1	S → A: Fails to undergo proteolytic cleavage and is unable to activate ENaC. Ref.7
	Sequence conflict	46 – 54	9	LKFFPIIVI → FEVFSQSSSL in AAG37012. Ref.1
	Sequence conflict	90	1	A → T in AAG37012. Ref.1
	Sequence conflict	369 – 395	27	ICNHR…TGGVD → DLQPQGRVRWHHLPLHALRG LPDGWRWN in AAG37012. Ref.1
	Sequence conflict	427	1	E → D in AAG37012. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified February 21, 2001. Version 2. Checksum: 57ECC3678F7D6AFF	FASTA	454	49,405
	10 20 30 40 50 60 MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP IIVIGIIALI 70 80 90 100 110 120 LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD GEDEYRCVRV GGQNAVLQVF 130 140 150 160 170 180 TAASWKTMCS DDWKGHYANV ACAQLGFPSY VSSDNLRVSS LEGQFREEFV SIDHLLPDDK 190 200 210 220 230 240 VTALHHSVYV REGCASGHVV TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH 250 260 270 280 290 300 LCGGSVITPL WIITAAHCVY DLYLPKSWTI QVGLVSLLDN PAPSHLVEKI VYHSKYKPKR 310 320 330 340 350 360 LGNDIALMKL AGPLTFNEMI QPVCLPNSEE NFPDGKVCWT SGWGATEDGA GDASPVLNHA 370 380 390 400 410 420 AVPLISNKIC NHRDVYGGII SPSMLCAGYL TGGVDSCQGD SGGPLVCQER RLWKLVGATS 430 440 450 FGIGCAEVNK PGVYTRVTSF LDWIHEQMER DLKT
	Isoform B (C) [UniParc]. Checksum: CF6A6505C4B9A6B9	FASTA	327	35,760
	10 20 30 40 50 60 MCSDDWKGHY ANVACAQLGF PSYVSSDNLR VSSLEGQFRE EFVSIDHLLP DDKVTALHHS 70 80 90 100 110 120 VYVREGCASG HVVTLQCTAC GHRRGYSSRI VGGNMSLLSQ WPWQASLQFQ GYHLCGGSVI 130 140 150 160 170 180 TPLWIITAAH CVYDLYLPKS WTIQVGLVSL LDNPAPSHLV EKIVYHSKYK PKRLGNDIAL 190 200 210 220 230 240 MKLAGPLTFN EMIQPVCLPN SEENFPDGKV CWTSGWGATE DGAGDASPVL NHAAVPLISN 250 260 270 280 290 300 KICNHRDVYG GIISPSMLCA GYLTGGVDSC QGDSGGPLVC QERRLWKLVG ATSFGIGCAE 310 320 VNKPGVYTRV TSFLDWIHEQ MERDLKT
	Isoform D [UniParc]. Checksum: FCE5335794AF9712	FASTA	344	37,497
	10 20 30 40 50 60 MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP IIVIGIIALI 70 80 90 100 110 120 LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD GEDEYRCVRV GGQNAVLQVF 130 140 150 160 170 180 TAASWKTMCS DDWKGHYANV ACAQLGFPSY VSSDNLRVSS LEGQFREEFV SIDHLLPDDK 190 200 210 220 230 240 VTALHHSVYV REGCASGHVV TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH 250 260 270 280 290 300 LCGGSVITPL WIITAAHCVY DLYLPKSWTI QVGLVSLLDN PAPSHLVEKI VYHSKYKPKR 310 320 330 340 LGNDIALMKL AGPLTFNGTS GSLCGSAALP LFQEDLQLLI EAFL
	Isoform T (Truncated) (TADG-12V) [UniParc]. Checksum: CF9C0540F570B900	FASTA	293	32,230
	10 20 30 40 50 60 MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP IIVIGIIALI 70 80 90 100 110 120 LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD GEDEYRCVRV GGQNAVLQVF 130 140 150 160 170 180 TAASWKTMCS DDWKGHYANV ACAQLGFPSY VSSDNLRVSS LEGQFREEFV SIDHLLPDDK 190 200 210 220 230 240 VTALHHSVYV REGCASGHVV TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH 250 260 270 280 290 LCGGSVITPL WIITAAHCVY EIVAPRERAD RRGRKLLCWR KPTKMKGPRP SHS
	Isoform E [UniParc]. Checksum: 90D46870BFA39B86	FASTA	453	49,334
	10 20 30 40 50 60 MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP IIVIGIIALI 70 80 90 100 110 120 LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD GEDEYRCVRV GGQNAVLQVF 130 140 150 160 170 180 TAASWKTMCS DDWKGHYANV ACAQLGFPSY VSSDNLRVSS LEGQFREEFV SIDHLLPDDK 190 200 210 220 230 240 VTALHHSVYV REGCASGHVV TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH 250 260 270 280 290 300 LCGGSVITPL WIITAAHCVY DLYLPKSWTI QVGLVSLLDN PAPSHLVEKI VYHSKYKPKR 310 320 330 340 350 360 LGNDIALMKL AGPLTFNEMI QPVCLPNSEE NFPDGKVCWT SGWGATEDGG DASPVLNHAA 370 380 390 400 410 420 VPLISNKICN HRDVYGGIIS PSMLCAGYLT GGVDSCQGDS GGPLVCQERR LWKLVGATSF 430 440 450 GIGCAEVNKP GVYTRVTSFL DWIHEQMERD LKT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Ovarian tumor cells express a novel multi-domain cell surface serine protease." Underwood L.J., Shigemasa K., Tanimoto H., Beard J.B., Schneider E.N., Wang Y., Parmley T.H., O'Brien T.J. Biochim. Biophys. Acta 1502:337-350(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; E AND T). Tissue: Ovarian carcinoma.
[2]	"Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness." Scott H.S., Kudoh J., Wattenhofer M., Shibuya K., Berry A., Chrast R., Guipponi M., Wang J., Kawasaki K., Asakawa S., Minoshima S., Younus F., Mehdi S.Q., Radhakrishna U., Papasavvas M.P., Gehrig C., Rossier C., Korostishevsky M. , Gal A., Shimizu N., Bonne-Tamir B., Antonarakis S.E. Nat. Genet. 27:59-63(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND D), VARIANT ILE-53.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM E).
[4]	"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 E).
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] (ISOFORMS A AND E). Tissue: Lung.
[7]	"The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro." Guipponi M., Vuagniaux G., Wattenhofer M., Shibuya K., Vazquez M., Dougherty L., Scamuffa N., Guida E., Okui M., Rossier C., Hancock M., Buchet K., Reymond A., Hummler E., Marzella P.L., Kudoh J., Shimizu N., Scott H.S., Antonarakis S.E., Rossier B.C. Hum. Mol. Genet. 11:2829-2836(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, AUTOCATALYTIC CLEAVAGE, MUTAGENESIS OF SER-401, CHARACTERIZATION OF VARIANTS DFBN8 GLY-103; TRP-109; PHE-194; CYS-251; LEU-404 AND ARG-407, FUNCTION IN ENAC CLEAVAGE.
[8]	"Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness." Masmoudi S., Antonarakis S.E., Schwede T., Ghorbel A.M., Gratri M., Pappasavas M.P., Drira M., Elgaied-Boulila A., Wattenhofer M., Rossier C., Scott H.S., Ayadi H., Guipponi M. Hum. Mutat. 18:101-108(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFBN8 CYS-251 AND LEU-404.
[9]	"Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness." Ben-Yosef T., Wattenhofer M., Riazuddin S., Ahmed Z.M., Scott H.S., Kudoh J., Shibuya K., Antonarakis S.E., Bonne-Tamir B., Radhakrishna U., Naz S., Ahmed Z., Riazuddin S., Pandya A., Nance W.E., Wilcox E.R., Friedman T.B., Morell R.J. J. Med. Genet. 38:396-400(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFBN8 TRP-109; PHE-194 AND ARG-407, VARIANTS ILE-53; SER-111 AND VAL-253.
[10]	"Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients." Wattenhofer M., Di Iorio V., Rabionet R., Dougherty L., Pampanos A., Schwede T., Montserrat-Sentis B., Arbones L., Iliades T., Pasquadibisceglie A., D'Amelio M., Alwan S., Rossier C., Dahl H.-H.M., Petersen M.B., Estivill X., Gasparini P., Scott H.S., Antonarakis S.E. J. Mol. Med. 80:124-131(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DFBN8 GLY-103, VARIANTS ASN-173 AND THR-426.
[11]	"A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein." Wattenhofer M., Sahin-Calapoglu N., Andreasen D., Kalay E., Caylan R., Braillard B., Fowler-Jaeger N., Reymond A., Rossier B.C., Karaguzel A., Antonarakis S.E. Hum. Genet. 117:528-535(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFBN8 LEU-216 AND LEU-404.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF201380 mRNA. Translation: AAG37012.1. AB038157 mRNA. Translation: BAB20077.1. AB038158 mRNA. Translation: BAB20078.1. AB038159 mRNA. Translation: BAB20079.1. AB038160 mRNA. Translation: BAB20080.1. AK172842 mRNA. Translation: BAD18806.1. AY358458 mRNA. Translation: AAQ88823.1. CH471079 Genomic DNA. Translation: EAX09564.1. CH471079 Genomic DNA. Translation: EAX09566.1. BC074846 mRNA. Translation: AAH74846.1. BC074847 mRNA. Translation: AAH74847.1.
IPI	IPI00027977. IPI00220533. IPI00220534. IPI00743692. IPI01010471.
RefSeq	NP_001243246.1. NM_001256317.1. NP_076927.1. NM_024022.2. NP_115780.1. NM_032404.2. NP_115781.1. NM_032405.1.
UniGene	Hs.208600.
3D structure databases
ProteinModelPortal	P57727.
ModBase	Search...
Protein-protein interaction databases
IntAct	P57727. 3 interactions.
MINT	MINT-1379704.
STRING	9606.ENSP00000291532.
Protein family/group databases
MEROPS	S01.079.
PTM databases
PhosphoSite	P57727.
Polymorphism databases
DMDM	13124582.
Proteomic databases
PaxDb	P57727.
PRIDE	P57727.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000291532; ENSP00000291532; ENSG00000160183. ENST00000398397; ENSP00000381434; ENSG00000160183. ENST00000433957; ENSP00000411013; ENSG00000160183.
GeneID	64699.
KEGG	hsa:64699.
UCSC	uc002zay.2. human. uc002zaz.2. human. uc002zbc.2. human. uc002zbd.3. human.
Organism-specific databases
CTD	64699.
GeneCards	GC21M038437.
HGNC	HGNC:11877. TMPRSS3.
HPA	HPA031305.
MIM	601072. phenotype. 605511. gene.
neXtProt	NX_P57727.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA36578.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5640.
HOGENOM	HOG000251822.
HOVERGEN	HBG013304.
InParanoid	P57727.
KO	K09634.
OrthoDB	EOG4XH002.
PhylomeDB	P57727.
Gene expression databases
ArrayExpress	P57727.
Bgee	P57727.
CleanEx	HS_TMPRSS3.
Genevestigator	P57727.
GermOnline	ENSG00000160183. Homo sapiens.
Family and domain databases
Gene3D	4.10.400.10. 1 hit.
InterPro	IPR023415. LDLR_class-A_CS. IPR002172. LDrepeatLR_classA_rpt. IPR001254. Peptidase_S1. IPR018114. Peptidase_S1_AS. IPR001314. Peptidase_S1A. IPR001190. Srcr_rcpt. IPR017448. Srcr_rcpt-rel. IPR009003. Trypsin-like_Pept_dom. [Graphical view]
Pfam	PF00057. Ldl_recept_a. 1 hit. PF00530. SRCR. 1 hit. PF00089. Trypsin. 1 hit. [Graphical view]
PRINTS	PR00722. CHYMOTRYPSIN.
SMART	SM00192. LDLa. 1 hit. SM00202. SR. 1 hit. SM00020. Tryp_SPc. 1 hit. [Graphical view]
SUPFAM	SSF57424. LDL_rcpt_classA_cys-rich. 1 hit. SSF50494. Pept_Ser_Cys. 1 hit. SSF56487. Srcr_receptor. 1 hit.
PROSITE	PS01209. LDLRA_1. 1 hit. PS50068. LDLRA_2. 1 hit. PS00420. SRCR_1. 1 hit. PS50287. SRCR_2. 1 hit. PS50240. TRYPSIN_DOM. 1 hit. PS00134. TRYPSIN_HIS. 1 hit. PS00135. TRYPSIN_SER. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64699.
NextBio	66629.
SOURCE	Search...

Entry information

Entry name

TMPS3_HUMAN

Accession

Primary (citable) accession number: P57727
Secondary accession number(s): D3DSJ6, Q6ZMC3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	February 21, 2001
Last modified:	May 1, 2013
This is version 131 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.