TMM54_HUMAN
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 03-AUG-2022, entry version 139.
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};
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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 BioMuta; TMEM54; -.
DR DMDM; 74760680; -.
DR jPOST; Q969K7; -.
DR MassIVE; Q969K7; -.
DR PaxDb; Q969K7; -.
DR PeptideAtlas; Q969K7; -.
DR PRIDE; Q969K7; -.
DR ProteomicsDB; 75785; -. [Q969K7-1]
DR ProteomicsDB; 75786; -. [Q969K7-2]
DR ProteomicsDB; 75787; -. [Q969K7-3]
DR Antibodypedia; 31378; 17 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 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; FAVRCSQ; -.
DR OrthoDB; 1133009at2759; -.
DR PhylomeDB; Q969K7; -.
DR TreeFam; TF332771; -.
DR PathwayCommons; Q969K7; -.
DR SignaLink; Q969K7; -.
DR BioGRID-ORCS; 113452; 15 hits in 1088 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 141 other tissues.
DR Genevisible; Q969K7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR020977; Beta-casein-like.
DR PANTHER; PTHR31258; PTHR31258; 1.
DR Pfam; PF12304; BCLP; 1.
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
