TMM80_HUMAN
ID TMM80_HUMAN Reviewed; 216 AA.
AC Q96HE8; A0A0A0MS80; A8MQ01; A8MXY8; B7WNU5;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-APR-2018, sequence version 4.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Transmembrane protein 80 {ECO:0000305};
GN Name=TMEM80 {ECO:0000312|HGNC:HGNC:27453};
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 GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 45-216 (ISOFORM 1).
RC TISSUE=Colon, and Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] OF 87-216.
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC Q96HE8; Q9UHX3: ADGRE2; NbExp=3; IntAct=EBI-11742770, EBI-11277970;
CC Q96HE8; Q9NVV5-2: AIG1; NbExp=3; IntAct=EBI-11742770, EBI-11957045;
CC Q96HE8; P29972: AQP1; NbExp=3; IntAct=EBI-11742770, EBI-745213;
CC Q96HE8; Q8N6S5: ARL6IP6; NbExp=3; IntAct=EBI-11742770, EBI-2808844;
CC Q96HE8; O15155: BET1; NbExp=3; IntAct=EBI-11742770, EBI-749204;
CC Q96HE8; Q13323: BIK; NbExp=3; IntAct=EBI-11742770, EBI-700794;
CC Q96HE8; Q96F05: C11orf24; NbExp=3; IntAct=EBI-11742770, EBI-2836238;
CC Q96HE8; Q6UWT4: C5orf46; NbExp=3; IntAct=EBI-11742770, EBI-11986083;
CC Q96HE8; Q9P0B6: CCDC167; NbExp=3; IntAct=EBI-11742770, EBI-9083477;
CC Q96HE8; P08962: CD63; NbExp=3; IntAct=EBI-11742770, EBI-762053;
CC Q96HE8; O75508: CLDN11; NbExp=3; IntAct=EBI-11742770, EBI-12820543;
CC Q96HE8; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-11742770, EBI-12256978;
CC Q96HE8; P56748: CLDN8; NbExp=3; IntAct=EBI-11742770, EBI-10215641;
CC Q96HE8; Q8NHS1: CLDND2; NbExp=3; IntAct=EBI-11742770, EBI-11959453;
CC Q96HE8; Q9UHP7-3: CLEC2D; NbExp=3; IntAct=EBI-11742770, EBI-11749983;
CC Q96HE8; Q96DZ9-2: CMTM5; NbExp=3; IntAct=EBI-11742770, EBI-11522780;
CC Q96HE8; Q8TBE1: CNIH3; NbExp=3; IntAct=EBI-11742770, EBI-12208021;
CC Q96HE8; P29400-2: COL4A5; NbExp=3; IntAct=EBI-11742770, EBI-12211159;
CC Q96HE8; P25025: CXCR2; NbExp=3; IntAct=EBI-11742770, EBI-2835281;
CC Q96HE8; Q9BQA9: CYBC1; NbExp=3; IntAct=EBI-11742770, EBI-2680384;
CC Q96HE8; Q9UPQ8: DOLK; NbExp=3; IntAct=EBI-11742770, EBI-8645574;
CC Q96HE8; P50402: EMD; NbExp=3; IntAct=EBI-11742770, EBI-489887;
CC Q96HE8; Q7Z2K6: ERMP1; NbExp=3; IntAct=EBI-11742770, EBI-10976398;
CC Q96HE8; O75063: FAM20B; NbExp=3; IntAct=EBI-11742770, EBI-11090967;
CC Q96HE8; Q92520: FAM3C; NbExp=3; IntAct=EBI-11742770, EBI-2876774;
CC Q96HE8; Q14318: FKBP8; NbExp=3; IntAct=EBI-11742770, EBI-724839;
CC Q96HE8; Q14802-3: FXYD3; NbExp=3; IntAct=EBI-11742770, EBI-12175685;
CC Q96HE8; O60883: GPR37L1; NbExp=3; IntAct=EBI-11742770, EBI-2927498;
CC Q96HE8; Q9Y5U9: IER3IP1; NbExp=3; IntAct=EBI-11742770, EBI-725665;
CC Q96HE8; O43561-2: LAT; NbExp=3; IntAct=EBI-11742770, EBI-8070286;
CC Q96HE8; Q8N8F7: LSMEM1; NbExp=3; IntAct=EBI-11742770, EBI-10200825;
CC Q96HE8; Q13021: MALL; NbExp=3; IntAct=EBI-11742770, EBI-750078;
CC Q96HE8; Q96G30: MRAP2; NbExp=3; IntAct=EBI-11742770, EBI-9537218;
CC Q96HE8; Q16617: NKG7; NbExp=3; IntAct=EBI-11742770, EBI-3919611;
CC Q96HE8; Q8N912: NRAC; NbExp=3; IntAct=EBI-11742770, EBI-12051377;
CC Q96HE8; Q01453: PMP22; NbExp=3; IntAct=EBI-11742770, EBI-2845982;
CC Q96HE8; A5D903: PRB1; NbExp=3; IntAct=EBI-11742770, EBI-10173935;
CC Q96HE8; P43378: PTPN9; NbExp=3; IntAct=EBI-11742770, EBI-742898;
CC Q96HE8; Q16849-3: PTPRN; NbExp=3; IntAct=EBI-11742770, EBI-10200782;
CC Q96HE8; Q9NS64: RPRM; NbExp=3; IntAct=EBI-11742770, EBI-1052363;
CC Q96HE8; Q8N6R1: SERP2; NbExp=3; IntAct=EBI-11742770, EBI-749270;
CC Q96HE8; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-11742770, EBI-10262251;
CC Q96HE8; Q8N2U9: SLC66A2; NbExp=3; IntAct=EBI-11742770, EBI-3907610;
CC Q96HE8; Q0VAQ4: SMAGP; NbExp=3; IntAct=EBI-11742770, EBI-10226799;
CC Q96HE8; Q9NRQ5: SMCO4; NbExp=3; IntAct=EBI-11742770, EBI-8640191;
CC Q96HE8; P02808: STATH; NbExp=3; IntAct=EBI-11742770, EBI-738687;
CC Q96HE8; O15400: STX7; NbExp=3; IntAct=EBI-11742770, EBI-3221827;
CC Q96HE8; O43759-2: SYNGR1; NbExp=3; IntAct=EBI-11742770, EBI-12187159;
CC Q96HE8; Q96CP7: TLCD1; NbExp=3; IntAct=EBI-11742770, EBI-11337932;
CC Q96HE8; Q9NV29: TMEM100; NbExp=3; IntAct=EBI-11742770, EBI-8644968;
CC Q96HE8; Q6UX40: TMEM107; NbExp=3; IntAct=EBI-11742770, EBI-12845616;
CC Q96HE8; Q9BVC6: TMEM109; NbExp=3; IntAct=EBI-11742770, EBI-1057733;
CC Q96HE8; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-11742770, EBI-10171534;
CC Q96HE8; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-11742770, EBI-10694905;
CC Q96HE8; Q9Y6G1: TMEM14A; NbExp=3; IntAct=EBI-11742770, EBI-2800360;
CC Q96HE8; Q9BU79: TMEM243; NbExp=3; IntAct=EBI-11742770, EBI-12887458;
CC Q96HE8; Q6PI78: TMEM65; NbExp=3; IntAct=EBI-11742770, EBI-6656213;
CC Q96HE8; O14798: TNFRSF10C; NbExp=3; IntAct=EBI-11742770, EBI-717441;
CC Q96HE8; O60635: TSPAN1; NbExp=3; IntAct=EBI-11742770, EBI-3914312;
CC Q96HE8; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-11742770, EBI-12195249;
CC Q96HE8; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-11742770, EBI-10243654;
CC Q96HE8; A5PKU2: TUSC5; NbExp=6; IntAct=EBI-11742770, EBI-11988865;
CC Q96HE8; Q9NYZ1: TVP23B; NbExp=3; IntAct=EBI-11742770, EBI-11343401;
CC Q96HE8; Q8N0U8: VKORC1L1; NbExp=3; IntAct=EBI-11742770, EBI-11337915;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q9D3H0}. Note=Localizes at the transition zone,
CC a region between the basal body and the ciliary axoneme.
CC {ECO:0000250|UniProtKB:Q9D3H0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing, Alternative initiation; Named isoforms=2;
CC Name=1;
CC IsoId=Q96HE8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96HE8-2; Sequence=VSP_059531, VSP_059532;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-74 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CB962031; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin at the N-terminal part.; Evidence={ECO:0000305};
CC Sequence=EAX02373.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AC131934; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008671; AAH08671.2; -; mRNA.
DR EMBL; CB962031; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CH471158; EAX02373.1; ALT_SEQ; Genomic_DNA.
DR RefSeq; NP_001035928.2; NM_001042463.2.
DR RefSeq; NP_001263182.1; NM_001276253.1.
DR RefSeq; NP_001263203.1; NM_001276274.1.
DR RefSeq; NP_777600.3; NM_174940.3.
DR AlphaFoldDB; Q96HE8; -.
DR BioGRID; 129504; 67.
DR IntAct; Q96HE8; 66.
DR MINT; Q96HE8; -.
DR STRING; 9606.ENSP00000380646; -.
DR iPTMnet; Q96HE8; -.
DR PhosphoSitePlus; Q96HE8; -.
DR BioMuta; TMEM80; -.
DR DMDM; 209572717; -.
DR PaxDb; Q96HE8; -.
DR PeptideAtlas; Q96HE8; -.
DR PRIDE; Q96HE8; -.
DR Antibodypedia; 59030; 123 antibodies from 13 providers.
DR DNASU; 283232; -.
DR Ensembl; ENST00000397510.9; ENSP00000380646.4; ENSG00000177042.16.
DR Ensembl; ENST00000397512.8; ENSP00000380648.4; ENSG00000177042.16.
DR GeneID; 283232; -.
DR KEGG; hsa:283232; -.
DR UCSC; uc057xju.1; human. [Q96HE8-1]
DR CTD; 283232; -.
DR DisGeNET; 283232; -.
DR GeneCards; TMEM80; -.
DR HGNC; HGNC:27453; TMEM80.
DR HPA; ENSG00000177042; Low tissue specificity.
DR neXtProt; NX_Q96HE8; -.
DR PharmGKB; PA142670734; -.
DR VEuPathDB; HostDB:ENSG00000177042; -.
DR eggNOG; KOG4502; Eukaryota.
DR HOGENOM; CLU_1320498_0_0_1; -.
DR InParanoid; Q96HE8; -.
DR OMA; HISECLW; -.
DR OrthoDB; 1584392at2759; -.
DR PhylomeDB; Q96HE8; -.
DR TreeFam; TF323824; -.
DR PathwayCommons; Q96HE8; -.
DR SignaLink; Q96HE8; -.
DR BioGRID-ORCS; 283232; 6 hits in 982 CRISPR screens.
DR ChiTaRS; TMEM80; human.
DR GenomeRNAi; 283232; -.
DR Pharos; Q96HE8; Tdark.
DR PRO; PR:Q96HE8; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96HE8; protein.
DR Bgee; ENSG00000177042; Expressed in pancreatic ductal cell and 191 other tissues.
DR ExpressionAtlas; Q96HE8; baseline and differential.
DR Genevisible; Q96HE8; HS.
DR GO; GO:0035869; C:ciliary transition zone; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR InterPro; IPR019184; Uncharacterised_TM-17.
DR PANTHER; PTHR13531; PTHR13531; 1.
DR Pfam; PF09799; Transmemb_17; 1.
PE 1: Evidence at protein level;
KW Alternative initiation; Alternative splicing; Cell projection; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..216
FT /note="Transmembrane protein 80"
FT /id="PRO_0000287873"
FT TRANSMEM 94..114
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 128..148
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 172..192
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 194..214
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..48
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_059531"
FT VAR_SEQ 73..80
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_059532"
SQ SEQUENCE 216 AA; 23077 MW; 6F6A7055D9F33772 CRC64;
MLPNVGSPPL PFRKCPSGAG RTNRASAVAR TSAPETRRGR APSSGDAKMA EGARARGPRG
CRDRDGPAGG AGKMAAPRRG RGSSTVLSSV PLQMLFYLSG TYYALYFLAT LLMITYKSQV
FSYPHRYLVL DLALLFLMGI LEAVRLYLGT RGNLTEAERP LAASLALTAG TALLSAHFLL
WQALVLWADW ALSATLLALH GLEAVLQVVA IAAFTR
