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Database: UniProt
Entry: TMM54_HUMAN
LinkDB: TMM54_HUMAN
Original site: 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   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};
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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   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   Genevisible; Q969K7; HS.
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.
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
//
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