ID TMM54_HUMAN Reviewed; 222 AA. AC Q969K7; Q6UV18; Q8IVD0; Q9UM12; DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-2001, sequence version 1. DT 24-JAN-2024, entry version 146. DE RecName: Full=Transmembrane protein 54; DE AltName: Full=Beta-casein-like protein; DE AltName: Full=Protein CAC-1; GN Name=TMEM54; Synonyms=BCLP, CAC1; 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 [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY. RX PubMed=11394883; DOI=10.1006/bbrc.2001.4966; RA Baba T., Koizumi M., Suzuki T., Yamanaka I., Yamashita S., Kudo R.; RT "Cloning and characterization of a tumor-associated antigen, beta-casein- RT like protein."; RL Biochem. Biophys. Res. Commun. 284:340-345(2001). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RA Li H., Huang F., Yu R., Zhou G., Ke R., Shen C., Zhong G., Lin L., Yang S.; RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). RC TISSUE=Brain, Colon, and Ovary; 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 [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 74-222. RX PubMed=9500206; DOI=10.1016/s0304-3835(97)00471-0; RA Suzuki T., Koizumi M., Baba T., Kudo R.; RT "Cloning and characterization of a cDNA fragment coding beta-casein-like RT protein preferentially expressed in cervical adenocarcinoma cell line CAC- RT 1."; RL Cancer Lett. 124:165-171(1998). CC -!- INTERACTION: CC Q969K7; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-3922833, EBI-11343438; CC Q969K7; P09693: CD3G; NbExp=3; IntAct=EBI-3922833, EBI-3862428; CC Q969K7; Q9BQT9: CLSTN3; NbExp=3; IntAct=EBI-3922833, EBI-11291074; CC Q969K7; Q9Y680: FKBP7; NbExp=3; IntAct=EBI-3922833, EBI-3918971; CC Q969K7; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-3922833, EBI-13345167; CC Q969K7; O60883: GPR37L1; NbExp=3; IntAct=EBI-3922833, EBI-2927498; CC Q969K7; Q92993: KAT5; NbExp=3; IntAct=EBI-3922833, EBI-399080; CC Q969K7; Q15842: KCNJ8; NbExp=3; IntAct=EBI-3922833, EBI-17440235; CC Q969K7; O95279: KCNK5; NbExp=3; IntAct=EBI-3922833, EBI-3934936; CC Q969K7; P26715: KLRC1; NbExp=3; IntAct=EBI-3922833, EBI-9018187; CC Q969K7; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-3922833, EBI-11742507; CC Q969K7; Q96JA4: MS4A14; NbExp=3; IntAct=EBI-3922833, EBI-12839612; CC Q969K7; Q02297-10: NRG1; NbExp=3; IntAct=EBI-3922833, EBI-12842334; CC Q969K7; P41219: PRPH; NbExp=3; IntAct=EBI-3922833, EBI-752074; CC Q969K7; P15151: PVR; NbExp=3; IntAct=EBI-3922833, EBI-3919694; CC Q969K7; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-3922833, EBI-9090795; CC Q969K7; Q9Y666-2: SLC12A7; NbExp=3; IntAct=EBI-3922833, EBI-12854384; CC Q969K7; Q9NP94: SLC39A2; NbExp=3; IntAct=EBI-3922833, EBI-12898013; CC Q969K7; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-3922833, EBI-6268651; CC Q969K7; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-3922833, EBI-18178701; CC Q969K7; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-3922833, EBI-12195249; CC Q969K7; O75841: UPK1B; NbExp=3; IntAct=EBI-3922833, EBI-12237619; CC Q969K7; P61981: YWHAG; NbExp=3; IntAct=EBI-3922833, EBI-359832; CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane CC protein {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q969K7-1; Sequence=Displayed; CC Name=2; CC IsoId=Q969K7-2; Sequence=VSP_017532; CC Name=3; CC IsoId=Q969K7-3; Sequence=VSP_017533; CC -!- TISSUE SPECIFICITY: Ubiquitously expressed in cancer cell lines. CC {ECO:0000269|PubMed:11394883}. CC -!- SIMILARITY: Belongs to the TMEM54 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAA87335.1; Type=Frameshift; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY027543; AAK13050.1; -; mRNA. DR EMBL; AY359883; AAQ64021.1; -; mRNA. DR EMBL; BC001418; AAH01418.2; -; mRNA. DR EMBL; BC013953; AAH13953.1; -; mRNA. DR EMBL; BC023260; AAH23260.1; -; mRNA. DR EMBL; AB012692; BAA87335.1; ALT_FRAME; mRNA. DR CCDS; CCDS371.1; -. [Q969K7-1] DR CCDS; CCDS85954.1; -. [Q969K7-3] DR PIR; JC7697; JC7697. DR RefSeq; NP_001316652.1; NM_001329723.1. [Q969K7-2] DR RefSeq; NP_001316653.1; NM_001329724.1. DR RefSeq; NP_001316654.1; NM_001329725.1. [Q969K7-3] DR RefSeq; NP_277039.1; NM_033504.3. [Q969K7-1] DR AlphaFoldDB; Q969K7; -. DR BioGRID; 125247; 28. DR IntAct; Q969K7; 26. DR MINT; Q969K7; -. DR STRING; 9606.ENSP00000362562; -. DR iPTMnet; Q969K7; -. DR PhosphoSitePlus; Q969K7; -. DR SwissPalm; Q969K7; -. DR BioMuta; TMEM54; -. DR DMDM; 74760680; -. DR jPOST; Q969K7; -. DR MassIVE; Q969K7; -. DR PaxDb; 9606-ENSP00000362562; -. DR PeptideAtlas; Q969K7; -. DR ProteomicsDB; 75785; -. [Q969K7-1] DR ProteomicsDB; 75786; -. [Q969K7-2] DR ProteomicsDB; 75787; -. [Q969K7-3] DR Antibodypedia; 31378; 18 antibodies from 11 providers. DR DNASU; 113452; -. DR Ensembl; ENST00000329151.5; ENSP00000328630.5; ENSG00000121900.19. [Q969K7-3] DR Ensembl; ENST00000373463.8; ENSP00000362562.3; ENSG00000121900.19. [Q969K7-1] DR GeneID; 113452; -. DR KEGG; hsa:113452; -. DR MANE-Select; ENST00000373463.8; ENSP00000362562.3; NM_033504.4; NP_277039.1. DR UCSC; uc001bwi.2; human. [Q969K7-1] DR AGR; HGNC:24143; -. DR CTD; 113452; -. DR DisGeNET; 113452; -. DR GeneCards; TMEM54; -. DR HGNC; HGNC:24143; TMEM54. DR HPA; ENSG00000121900; Tissue enhanced (intestine). DR neXtProt; NX_Q969K7; -. DR OpenTargets; ENSG00000121900; -. DR PharmGKB; PA142670770; -. DR VEuPathDB; HostDB:ENSG00000121900; -. DR eggNOG; ENOG502S0UN; Eukaryota. DR GeneTree; ENSGT00390000004700; -. DR HOGENOM; CLU_089663_1_0_1; -. DR InParanoid; Q969K7; -. DR OMA; QISHECP; -. DR OrthoDB; 5353174at2759; -. DR PhylomeDB; Q969K7; -. DR TreeFam; TF332771; -. DR PathwayCommons; Q969K7; -. DR SignaLink; Q969K7; -. DR BioGRID-ORCS; 113452; 15 hits in 1166 CRISPR screens. DR ChiTaRS; TMEM54; human. DR GenomeRNAi; 113452; -. DR Pharos; Q969K7; Tdark. DR PRO; PR:Q969K7; -. DR Proteomes; UP000005640; Chromosome 1. DR RNAct; Q969K7; Protein. DR Bgee; ENSG00000121900; Expressed in mucosa of transverse colon and 143 other cell types or tissues. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR InterPro; IPR020977; Beta-casein-like. DR PANTHER; PTHR31258; KERATINOCYTE-ASSOCIATED PROTEIN 3; 1. DR PANTHER; PTHR31258:SF2; TRANSMEMBRANE PROTEIN 54; 1. DR Pfam; PF12304; BCLP; 1. DR Genevisible; Q969K7; HS. PE 1: Evidence at protein level; KW Alternative splicing; Membrane; Reference proteome; Transmembrane; KW Transmembrane helix. FT CHAIN 1..222 FT /note="Transmembrane protein 54" FT /id="PRO_0000226989" FT TRANSMEM 22..42 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 62..82 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 100..120 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 155..175 FT /note="Helical" FT /evidence="ECO:0000255" FT VAR_SEQ 71..123 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_017533" FT VAR_SEQ 71..90 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|Ref.2" FT /id="VSP_017532" FT VARIANT 110 FT /note="L -> F (in dbSNP:rs10914632)" FT /id="VAR_052342" FT CONFLICT 144 FT /note="D -> Y (in Ref. 4; BAA87335)" FT /evidence="ECO:0000305" FT CONFLICT 172 FT /note="V -> G (in Ref. 4; BAA87335)" FT /evidence="ECO:0000305" SQ SEQUENCE 222 AA; 23772 MW; BD6361E5AFD816C0 CRC64; MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ DAVALQYCVV NILSVTSAIV VITSGIAAIV LSRYLPSTPL RWTVFSSSVA CALLSLTCAL GLLASIAMTF ATQGKALLAA CTFGSSELLA LAPDCPFDPT RIYSSSLCLW GIALVLCVAE NVFAVRCAQL THQLLELRPW WGKSSHHMMR ENPELVEGRD LLSCTSSEPL TL //