UniProtKB - Q969K7 (TMM54_HUMAN)
Protein
Transmembrane protein 54
Gene
TMEM54
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 54Alternative name(s): Beta-casein-like protein Protein CAC-1 |
Gene namesi | Name:TMEM54 Synonyms:BCLP, CAC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24143, TMEM54 |
neXtProti | NX_Q969K7 |
VEuPathDBi | HostDB:ENSG00000121900.18 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 22 – 42 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 62 – 82 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 100 – 120 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 155 – 175 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 113452 |
OpenTargetsi | ENSG00000121900 |
PharmGKBi | PA142670770 |
Miscellaneous databases
Pharosi | Q969K7, Tdark |
Genetic variation databases
BioMutai | TMEM54 |
DMDMi | 74760680 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000226989 | 1 – 222 | Transmembrane protein 54Add BLAST | 222 |
Proteomic databases
jPOSTi | Q969K7 |
MassIVEi | Q969K7 |
PaxDbi | Q969K7 |
PeptideAtlasi | Q969K7 |
PRIDEi | Q969K7 |
ProteomicsDBi | 75785 [Q969K7-1] 75786 [Q969K7-2] 75787 [Q969K7-3] |
PTM databases
iPTMneti | Q969K7 |
PhosphoSitePlusi | Q969K7 |
Expressioni
Tissue specificityi
Ubiquitously expressed in cancer cell lines.1 Publication
Gene expression databases
Bgeei | ENSG00000121900, Expressed in mucosa of transverse colon and 174 other tissues |
Genevisiblei | Q969K7, HS |
Organism-specific databases
HPAi | ENSG00000121900, Tissue enhanced (intestine) |
Interactioni
Binary interactionsi
Hide detailsQ969K7
Protein-protein interaction databases
BioGRIDi | 125247, 27 interactors |
IntActi | Q969K7, 26 interactors |
MINTi | Q969K7 |
STRINGi | 9606.ENSP00000362562 |
Miscellaneous databases
RNActi | Q969K7, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the TMEM54 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S0UN, Eukaryota |
GeneTreei | ENSGT00390000004700 |
HOGENOMi | CLU_089663_1_0_1 |
InParanoidi | Q969K7 |
OMAi | VPLRWTV |
OrthoDBi | 1133009at2759 |
PhylomeDBi | Q969K7 |
TreeFami | TF332771 |
Family and domain databases
InterProi | View protein in InterPro IPR020977, Beta-casein-like |
PANTHERi | PTHR31258, PTHR31258, 1 hit |
Pfami | View protein in Pfam PF12304, BCLP, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q969K7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ
60 70 80 90 100
DAVALQYCVV NILSVTSAIV VITSGIAAIV LSRYLPSTPL RWTVFSSSVA
110 120 130 140 150
CALLSLTCAL GLLASIAMTF ATQGKALLAA CTFGSSELLA LAPDCPFDPT
160 170 180 190 200
RIYSSSLCLW GIALVLCVAE NVFAVRCAQL THQLLELRPW WGKSSHHMMR
210 220
ENPELVEGRD LLSCTSSEPL TL
Sequence cautioni
The sequence BAA87335 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 144 | D → Y in BAA87335 (PubMed:9500206).Curated | 1 | |
Sequence conflicti | 172 | V → G in BAA87335 (PubMed:9500206).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052342 | 110 | L → F. Corresponds to variant dbSNP:rs10914632Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017533 | 71 – 123 | Missing in isoform 3. 1 PublicationAdd BLAST | 53 | |
Alternative sequenceiVSP_017532 | 71 – 90 | Missing in isoform 2. 1 PublicationAdd BLAST | 20 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY027543 mRNA Translation: AAK13050.1 AY359883 mRNA Translation: AAQ64021.1 BC001418 mRNA Translation: AAH01418.2 BC013953 mRNA Translation: AAH13953.1 BC023260 mRNA Translation: AAH23260.1 AB012692 mRNA Translation: BAA87335.1 Frameshift. |
CCDSi | CCDS371.1 [Q969K7-1] CCDS85954.1 [Q969K7-3] |
PIRi | JC7697 |
RefSeqi | NP_001316652.1, NM_001329723.1 [Q969K7-2] NP_001316653.1, NM_001329724.1 NP_001316654.1, NM_001329725.1 [Q969K7-3] NP_277039.1, NM_033504.3 [Q969K7-1] |
Genome annotation databases
Ensembli | ENST00000329151; ENSP00000328630; ENSG00000121900 [Q969K7-3] ENST00000373463; ENSP00000362562; ENSG00000121900 [Q969K7-1] |
GeneIDi | 113452 |
KEGGi | hsa:113452 |
UCSCi | uc001bwi.2, human [Q969K7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY027543 mRNA Translation: AAK13050.1 AY359883 mRNA Translation: AAQ64021.1 BC001418 mRNA Translation: AAH01418.2 BC013953 mRNA Translation: AAH13953.1 BC023260 mRNA Translation: AAH23260.1 AB012692 mRNA Translation: BAA87335.1 Frameshift. |
CCDSi | CCDS371.1 [Q969K7-1] CCDS85954.1 [Q969K7-3] |
PIRi | JC7697 |
RefSeqi | NP_001316652.1, NM_001329723.1 [Q969K7-2] NP_001316653.1, NM_001329724.1 NP_001316654.1, NM_001329725.1 [Q969K7-3] NP_277039.1, NM_033504.3 [Q969K7-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125247, 27 interactors |
IntActi | Q969K7, 26 interactors |
MINTi | Q969K7 |
STRINGi | 9606.ENSP00000362562 |
PTM databases
iPTMneti | Q969K7 |
PhosphoSitePlusi | Q969K7 |
Genetic variation databases
BioMutai | TMEM54 |
DMDMi | 74760680 |
Proteomic databases
jPOSTi | Q969K7 |
MassIVEi | Q969K7 |
PaxDbi | Q969K7 |
PeptideAtlasi | Q969K7 |
PRIDEi | Q969K7 |
ProteomicsDBi | 75785 [Q969K7-1] 75786 [Q969K7-2] 75787 [Q969K7-3] |
Protocols and materials databases
Antibodypediai | 31378, 16 antibodies |
Genome annotation databases
Ensembli | ENST00000329151; ENSP00000328630; ENSG00000121900 [Q969K7-3] ENST00000373463; ENSP00000362562; ENSG00000121900 [Q969K7-1] |
GeneIDi | 113452 |
KEGGi | hsa:113452 |
UCSCi | uc001bwi.2, human [Q969K7-1] |
Organism-specific databases
CTDi | 113452 |
DisGeNETi | 113452 |
GeneCardsi | TMEM54 |
HGNCi | HGNC:24143, TMEM54 |
HPAi | ENSG00000121900, Tissue enhanced (intestine) |
neXtProti | NX_Q969K7 |
OpenTargetsi | ENSG00000121900 |
PharmGKBi | PA142670770 |
VEuPathDBi | HostDB:ENSG00000121900.18 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S0UN, Eukaryota |
GeneTreei | ENSGT00390000004700 |
HOGENOMi | CLU_089663_1_0_1 |
InParanoidi | Q969K7 |
OMAi | VPLRWTV |
OrthoDBi | 1133009at2759 |
PhylomeDBi | Q969K7 |
TreeFami | TF332771 |
Enzyme and pathway databases
PathwayCommonsi | Q969K7 |
Miscellaneous databases
BioGRID-ORCSi | 113452, 10 hits in 1004 CRISPR screens |
ChiTaRSi | TMEM54, human |
GenomeRNAii | 113452 |
Pharosi | Q969K7, Tdark |
PROi | PR:Q969K7 |
RNActi | Q969K7, protein |
Gene expression databases
Bgeei | ENSG00000121900, Expressed in mucosa of transverse colon and 174 other tissues |
Genevisiblei | Q969K7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR020977, Beta-casein-like |
PANTHERi | PTHR31258, PTHR31258, 1 hit |
Pfami | View protein in Pfam PF12304, BCLP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TMM54_HUMAN | |
Accessioni | Q969K7Primary (citable) accession number: Q969K7 Secondary accession number(s): Q6UV18, Q8IVD0, Q9UM12 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 7, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | April 7, 2021 | |
This is version 134 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - SIMILARITY comments
Index of protein domains and families