TMM79_HUMAN
ID TMM79_HUMAN Reviewed; 394 AA.
AC Q9BSE2; B2RE22; D3DVB8;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Transmembrane protein 79;
DE AltName: Full=Mattrin;
GN Name=TMEM79; Synonyms=MATT;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=24060273; DOI=10.1016/j.jaci.2013.08.027;
RA Sasaki T., Shiohama A., Kubo A., Kawasaki H., Ishida-Yamamoto A.,
RA Yamada T., Hachiya T., Shimizu A., Okano H., Kudoh J., Amagai M.;
RT "A homozygous nonsense mutation in the gene for Tmem79, a component for the
RT lamellar granule secretory system, produces spontaneous eczema in an
RT experimental model of atopic dermatitis.";
RL J. Allergy Clin. Immunol. 132:1111-1120(2013).
RN [6]
RP VARIANT MET-147, ASSOCIATION WITH ATOPIC DERMATITIS, AND TISSUE
RP SPECIFICITY.
RX PubMed=24084074; DOI=10.1016/j.jaci.2013.08.046;
RA Saunders S.P., Goh C.S., Brown S.J., Palmer C.N., Porter R.M., Cole C.,
RA Campbell L.E., Gierlinski M., Barton G.J., Schneider G., Balmain A.,
RA Prescott A.R., Weidinger S., Baurecht H., Kabesch M., Gieger C., Lee Y.A.,
RA Tavendale R., Mukhopadhyay S., Turner S.W., Madhok V.B., Sullivan F.M.,
RA Relton C., Burn J., Meggitt S., Smith C.H., Allen M.A., Barker J.N.,
RA Reynolds N.J., Cordell H.J., Irvine A.D., McLean W.H., Sandilands A.,
RA Fallon P.G.;
RT "Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic
RT dermatitis in human subjects.";
RL J. Allergy Clin. Immunol. 132:1121-1129(2013).
CC -!- FUNCTION: Contributes to the epidermal integrity and skin barrier
CC function. Plays a role in the lamellar granule (LG) secretory system
CC and in the stratum corneum (SC) epithelial cell formation (By
CC similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BSE2; B0B1U2: ABO; NbExp=3; IntAct=EBI-8649725, EBI-10175342;
CC Q9BSE2; Q86WK6: AMIGO1; NbExp=3; IntAct=EBI-8649725, EBI-19125216;
CC Q9BSE2; Q86W74-2: ANKRD46; NbExp=3; IntAct=EBI-8649725, EBI-12109402;
CC Q9BSE2; P05090: APOD; NbExp=3; IntAct=EBI-8649725, EBI-715495;
CC Q9BSE2; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-8649725, EBI-11343438;
CC Q9BSE2; Q6PL45-2: BRICD5; NbExp=3; IntAct=EBI-8649725, EBI-12244618;
CC Q9BSE2; Q9BXN2: CLEC7A; NbExp=4; IntAct=EBI-8649725, EBI-3939278;
CC Q9BSE2; Q9BXN2-6: CLEC7A; NbExp=3; IntAct=EBI-8649725, EBI-11989440;
CC Q9BSE2; O75208: COQ9; NbExp=3; IntAct=EBI-8649725, EBI-724524;
CC Q9BSE2; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-8649725, EBI-18013275;
CC Q9BSE2; P00387: CYB5R3; NbExp=3; IntAct=EBI-8649725, EBI-1046040;
CC Q9BSE2; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-8649725, EBI-18304435;
CC Q9BSE2; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-8649725, EBI-12142257;
CC Q9BSE2; Q8WWP7: GIMAP1; NbExp=3; IntAct=EBI-8649725, EBI-11991950;
CC Q9BSE2; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-8649725, EBI-13067820;
CC Q9BSE2; Q5T700: LDLRAD1; NbExp=3; IntAct=EBI-8649725, EBI-10173166;
CC Q9BSE2; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-8649725, EBI-12033434;
CC Q9BSE2; Q9HAT8: PELI2; NbExp=3; IntAct=EBI-8649725, EBI-448407;
CC Q9BSE2; Q04941: PLP2; NbExp=4; IntAct=EBI-8649725, EBI-608347;
CC Q9BSE2; P15151: PVR; NbExp=3; IntAct=EBI-8649725, EBI-3919694;
CC Q9BSE2; O76064: RNF8; NbExp=10; IntAct=EBI-8649725, EBI-373337;
CC Q9BSE2; Q9NS64: RPRM; NbExp=6; IntAct=EBI-8649725, EBI-1052363;
CC Q9BSE2; Q96IW7: SEC22A; NbExp=7; IntAct=EBI-8649725, EBI-8652744;
CC Q9BSE2; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-8649725, EBI-10329948;
CC Q9BSE2; P11686: SFTPC; NbExp=15; IntAct=EBI-8649725, EBI-10197617;
CC Q9BSE2; P11686-2: SFTPC; NbExp=3; IntAct=EBI-8649725, EBI-16435005;
CC Q9BSE2; O00631: SLN; NbExp=4; IntAct=EBI-8649725, EBI-10180786;
CC Q9BSE2; Q9Y6I9: TEX264; NbExp=8; IntAct=EBI-8649725, EBI-10329860;
CC Q9BSE2; Q9NV29: TMEM100; NbExp=3; IntAct=EBI-8649725, EBI-8644968;
CC Q9BSE2; Q9P0S9: TMEM14C; NbExp=3; IntAct=EBI-8649725, EBI-2339195;
CC Q9BSE2; Q8TBM7: TMEM254; NbExp=3; IntAct=EBI-8649725, EBI-11956809;
CC Q9BSE2; Q9BSE2: TMEM79; NbExp=5; IntAct=EBI-8649725, EBI-8649725;
CC Q9BSE2; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-8649725, EBI-12111910;
CC Q9BSE2; O15393-2: TMPRSS2; NbExp=3; IntAct=EBI-8649725, EBI-12345267;
CC Q9BSE2; Q9NRS4: TMPRSS4; NbExp=3; IntAct=EBI-8649725, EBI-10313040;
CC Q9BSE2; Q9NRS4-3: TMPRSS4; NbExp=3; IntAct=EBI-8649725, EBI-10312990;
CC Q9BSE2; Q9H2S6: TNMD; NbExp=4; IntAct=EBI-8649725, EBI-10306119;
CC Q9BSE2; Q9H2S6-2: TNMD; NbExp=3; IntAct=EBI-8649725, EBI-12003398;
CC Q9BSE2; Q8N609: TRAM1L1; NbExp=3; IntAct=EBI-8649725, EBI-11996766;
CC Q9BSE2; Q6PEW1: ZCCHC12; NbExp=3; IntAct=EBI-8649725, EBI-748373;
CC -!- SUBCELLULAR LOCATION: Lysosome {ECO:0000250}. Golgi apparatus, trans-
CC Golgi network {ECO:0000250}. Membrane {ECO:0000305}; Multi-pass
CC membrane protein {ECO:0000305}. Note=Colocalized with TGOLN2 in the
CC trans-Golgi network. Colocalized with LAMP1 in the lysosome (By
CC similarity). {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in the epidermis of the skin. Expressed
CC in epithelial cells of the outermost layer of the stratum granulosum
CC (SG) and hair follicles (at protein level).
CC {ECO:0000269|PubMed:24060273, ECO:0000269|PubMed:24084074}.
CC -!- DISEASE: Note=Defects in TMEM79 may be associated with susceptibility
CC to atopic dermatitis. Atopic dermatitis is a complex, inflammatory
CC disease with multiple alleles at several loci thought to be involved in
CC the pathogenesis. It commonly begins in infancy or early childhood and
CC is characterized by a chronic relapsing form of skin inflammation, a
CC disturbance of epidermal barrier function that culminates in dry skin,
CC and IgE-mediated sensitization to food and environmental allergens. It
CC is manifested by lichenification, excoriation, and crusting, mainly on
CC the flexural surfaces of the elbow and knee.
CC {ECO:0000269|PubMed:24084074}.
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DR EMBL; AK315767; BAG38119.1; -; mRNA.
DR EMBL; AL589685; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW52971.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW52972.1; -; Genomic_DNA.
DR EMBL; BC005094; AAH05094.1; -; mRNA.
DR CCDS; CCDS1138.1; -.
DR RefSeq; NP_115699.1; NM_032323.2.
DR AlphaFoldDB; Q9BSE2; -.
DR BioGRID; 124010; 69.
DR IntAct; Q9BSE2; 38.
DR MINT; Q9BSE2; -.
DR STRING; 9606.ENSP00000384748; -.
DR iPTMnet; Q9BSE2; -.
DR PhosphoSitePlus; Q9BSE2; -.
DR BioMuta; TMEM79; -.
DR DMDM; 74752301; -.
DR MassIVE; Q9BSE2; -.
DR MaxQB; Q9BSE2; -.
DR PaxDb; Q9BSE2; -.
DR PeptideAtlas; Q9BSE2; -.
DR PRIDE; Q9BSE2; -.
DR ProteomicsDB; 78880; -.
DR Antibodypedia; 34211; 86 antibodies from 19 providers.
DR DNASU; 84283; -.
DR Ensembl; ENST00000295694.9; ENSP00000295694.5; ENSG00000163472.19.
DR Ensembl; ENST00000405535.3; ENSP00000384748.2; ENSG00000163472.19.
DR GeneID; 84283; -.
DR KEGG; hsa:84283; -.
DR MANE-Select; ENST00000405535.3; ENSP00000384748.2; NM_032323.3; NP_115699.1.
DR UCSC; uc009wrw.3; human.
DR CTD; 84283; -.
DR DisGeNET; 84283; -.
DR GeneCards; TMEM79; -.
DR HGNC; HGNC:28196; TMEM79.
DR HPA; ENSG00000163472; Tissue enhanced (esophagus, skin, vagina).
DR MIM; 615531; gene.
DR neXtProt; NX_Q9BSE2; -.
DR OpenTargets; ENSG00000163472; -.
DR PharmGKB; PA143485632; -.
DR VEuPathDB; HostDB:ENSG00000163472; -.
DR eggNOG; ENOG502QVUB; Eukaryota.
DR GeneTree; ENSGT00390000002390; -.
DR HOGENOM; CLU_062246_1_0_1; -.
DR InParanoid; Q9BSE2; -.
DR OMA; YYMFLVE; -.
DR OrthoDB; 963760at2759; -.
DR PhylomeDB; Q9BSE2; -.
DR TreeFam; TF333310; -.
DR PathwayCommons; Q9BSE2; -.
DR SignaLink; Q9BSE2; -.
DR BioGRID-ORCS; 84283; 23 hits in 1081 CRISPR screens.
DR GenomeRNAi; 84283; -.
DR Pharos; Q9BSE2; Tbio.
DR PRO; PR:Q9BSE2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BSE2; protein.
DR Bgee; ENSG00000163472; Expressed in lower esophagus mucosa and 117 other tissues.
DR ExpressionAtlas; Q9BSE2; baseline and differential.
DR Genevisible; Q9BSE2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; ISS:UniProtKB.
DR GO; GO:0032588; C:trans-Golgi network membrane; ISS:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0070268; P:cornification; IEA:Ensembl.
DR GO; GO:0042335; P:cuticle development; IEA:Ensembl.
DR GO; GO:0002070; P:epithelial cell maturation; ISS:UniProtKB.
DR GO; GO:0061436; P:establishment of skin barrier; ISS:UniProtKB.
DR GO; GO:0031069; P:hair follicle morphogenesis; IEA:Ensembl.
DR GO; GO:0045684; P:positive regulation of epidermis development; ISS:UniProtKB.
DR GO; GO:0045055; P:regulated exocytosis; ISS:UniProtKB.
PE 1: Evidence at protein level;
KW Golgi apparatus; Lysosome; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..394
FT /note="Transmembrane protein 79"
FT /id="PRO_0000254118"
FT TOPO_DOM 1..203
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 204..224
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 225..243
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 244..264
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 265..282
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 283..303
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 304..312
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 313..333
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 334..342
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 343..363
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 364..394
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT REGION 1..107
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 147
FT /note="V -> M (may be associated with atopic dermatitis;
FT dbSNP:rs6684514)"
FT /evidence="ECO:0000269|PubMed:24084074"
FT /id="VAR_028815"
SQ SEQUENCE 394 AA; 43520 MW; A114D3D610020E4C CRC64;
MTEQETLALL EVKRSDSPEK SSPQALVPNG RQPEGEGGAE SPGAESLRVG SSAGSPTAIE
GAEDGLDSTV SEAATLPWGT GPQPSAPFPD PPGWRDIEPE PPESEPLTKL EELPEDDANL
LPEKAARAFV PIDLQCIERQ PQEDLIVRCE AGEGECRTFM PPRVTHPDPT ERKWAEAVVR
PPGCSCGGCG SCGDREWLRA VASVGAALIL FPCLLYGAYA FLPFDVPRLP TMSSRLIYTL
RCGVFATFPI VLGILVYGLS LLCFSALRPF GEPRREVEIH RRYVAQSVQL FILYFFNLAV
LSTYLPQDTL KLLPLLTGLF AVSRLIYWLT FAVGRSFRGF GYGLTFLPLL SMLMWNLYYM
FVVEPERMLT ATESRLDYPD HARSASDYRP RPWG
