TMM88_HUMAN
ID TMM88_HUMAN Reviewed; 159 AA.
AC Q6PEY1;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Transmembrane protein 88;
GN Name=TMEM88; Synonyms=TMEM88A;
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=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 [2]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH DVL1.
RX PubMed=21044957; DOI=10.1074/jbc.m110.193383;
RA Lee H.J., Finkelstein D., Li X., Wu D., Shi D.L., Zheng J.J.;
RT "Identification of transmembrane protein 88 (TMEM88) as a dishevelled-
RT binding protein.";
RL J. Biol. Chem. 285:41549-41556(2010).
RN [3]
RP FUNCTION.
RX PubMed=23924634; DOI=10.1242/dev.094789;
RA Palpant N.J., Pabon L., Rabinowitz J.S., Hadland B.K., Stoick-Cooper C.L.,
RA Paige S.L., Bernstein I.D., Moon R.T., Murry C.E.;
RT "Transmembrane protein 88: a Wnt regulatory protein that specifies
RT cardiomyocyte development.";
RL Development 140:3799-3808(2013).
CC -!- FUNCTION: Inhibits the Wnt/beta-catenin signaling pathway. Crucial for
CC heart development and acts downstream of GATA factors in the pre-
CC cardiac mesoderm to specify lineage commitment of cardiomyocyte
CC development. {ECO:0000269|PubMed:23924634}.
CC -!- SUBUNIT: Interacts (via C-terminus) with DVL1.
CC {ECO:0000269|PubMed:21044957}.
CC -!- INTERACTION:
CC Q6PEY1; O14523: C2CD2L; NbExp=3; IntAct=EBI-17198826, EBI-12822627;
CC Q6PEY1; P04921: GYPC; NbExp=3; IntAct=EBI-17198826, EBI-7797098;
CC Q6PEY1; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-17198826, EBI-11956541;
CC Q6PEY1; Q16617: NKG7; NbExp=3; IntAct=EBI-17198826, EBI-3919611;
CC Q6PEY1; O14925: TIMM23; NbExp=3; IntAct=EBI-17198826, EBI-1047996;
CC Q6PEY1; P17152: TMEM11; NbExp=3; IntAct=EBI-17198826, EBI-723946;
CC Q6PEY1; Q9BXJ8: TMEM120A; NbExp=3; IntAct=EBI-17198826, EBI-727322;
CC Q6PEY1; A2RU14: TMEM218; NbExp=3; IntAct=EBI-17198826, EBI-10173151;
CC Q6PEY1; P56557: TMEM50B; NbExp=3; IntAct=EBI-17198826, EBI-12366453;
CC Q6PEY1; Q86Y07: VRK2; NbExp=3; IntAct=EBI-17198826, EBI-1207615;
CC Q6PEY1; Q8N966: ZDHHC22; NbExp=3; IntAct=EBI-17198826, EBI-10268111;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21044957};
CC Multi-pass membrane protein {ECO:0000269|PubMed:21044957}.
CC -!- SIMILARITY: Belongs to the TMEM88 family. {ECO:0000305}.
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DR EMBL; BC057812; AAH57812.1; -; mRNA.
DR CCDS; CCDS11121.1; -.
DR RefSeq; NP_981956.1; NM_203411.1.
DR AlphaFoldDB; Q6PEY1; -.
DR BioGRID; 124915; 33.
DR IntAct; Q6PEY1; 11.
DR STRING; 9606.ENSP00000301599; -.
DR iPTMnet; Q6PEY1; -.
DR PhosphoSitePlus; Q6PEY1; -.
DR BioMuta; TMEM88; -.
DR DMDM; 74758328; -.
DR MassIVE; Q6PEY1; -.
DR PaxDb; Q6PEY1; -.
DR PeptideAtlas; Q6PEY1; -.
DR PRIDE; Q6PEY1; -.
DR ProteomicsDB; 67088; -.
DR Antibodypedia; 58901; 44 antibodies from 17 providers.
DR DNASU; 92162; -.
DR Ensembl; ENST00000301599.7; ENSP00000301599.6; ENSG00000167874.7.
DR GeneID; 92162; -.
DR KEGG; hsa:92162; -.
DR MANE-Select; ENST00000301599.7; ENSP00000301599.6; NM_203411.2; NP_981956.1.
DR UCSC; uc002giy.4; human.
DR CTD; 92162; -.
DR DisGeNET; 92162; -.
DR GeneCards; TMEM88; -.
DR HGNC; HGNC:32371; TMEM88.
DR HPA; ENSG00000167874; Low tissue specificity.
DR MIM; 617813; gene.
DR neXtProt; NX_Q6PEY1; -.
DR OpenTargets; ENSG00000167874; -.
DR PharmGKB; PA142670741; -.
DR VEuPathDB; HostDB:ENSG00000167874; -.
DR eggNOG; ENOG502S52P; Eukaryota.
DR GeneTree; ENSGT00940000162021; -.
DR HOGENOM; CLU_105667_1_0_1; -.
DR InParanoid; Q6PEY1; -.
DR OMA; CWACAEL; -.
DR OrthoDB; 1391325at2759; -.
DR PhylomeDB; Q6PEY1; -.
DR TreeFam; TF332743; -.
DR PathwayCommons; Q6PEY1; -.
DR SignaLink; Q6PEY1; -.
DR BioGRID-ORCS; 92162; 6 hits in 1073 CRISPR screens.
DR GenomeRNAi; 92162; -.
DR Pharos; Q6PEY1; Tbio.
DR PRO; PR:Q6PEY1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6PEY1; protein.
DR Bgee; ENSG00000167874; Expressed in apex of heart and 95 other tissues.
DR ExpressionAtlas; Q6PEY1; baseline and differential.
DR Genevisible; Q6PEY1; HS.
DR GO; GO:0005829; C:cytosol; IDA:ParkinsonsUK-UCL.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:ParkinsonsUK-UCL.
DR GO; GO:0030165; F:PDZ domain binding; ISS:ParkinsonsUK-UCL.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IDA:ParkinsonsUK-UCL.
DR GO; GO:0072659; P:protein localization to plasma membrane; IGI:ParkinsonsUK-UCL.
DR GO; GO:0050821; P:protein stabilization; IGI:ParkinsonsUK-UCL.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR InterPro; IPR033355; TMEM88.
DR InterPro; IPR033354; TMEM88A.
DR PANTHER; PTHR28628; PTHR28628; 1.
DR PANTHER; PTHR28628:SF3; PTHR28628:SF3; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Developmental protein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Wnt signaling pathway.
FT CHAIN 1..159
FT /note="Transmembrane protein 88"
FT /id="PRO_0000251707"
FT TRANSMEM 43..63
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 88..108
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 137..159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 44
FT /note="L -> F (in dbSNP:rs2270518)"
FT /id="VAR_027702"
SQ SEQUENCE 159 AA; 17251 MW; B77503ABB3D4295B CRC64;
MADVPGAQRA VPGDGPEPRD PLDCWACAVL VTAQNLLVAA FNLLLLVLVL GTILLPAVTM
LGFGFLCHSQ FLRSQAPPCT AHLRDPGFTA LLVTGFLLLV PLLVLALASY RRLCLRLRLA
DCLVPYSRAL YRRRRAPQPR QIRASPGSQA VPTSGKVWV
