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Aliases for TMEM54 Gene

Aliases for TMEM54 Gene

  • Transmembrane Protein 54 2 3 5
  • Beta-Casein-Like Protein 3 4
  • Protein CAC-1 3 4
  • CAC1 3 4
  • BCLP 3 4
  • CAC-1 3

External Ids for TMEM54 Gene

Previous GeneCards Identifiers for TMEM54 Gene

  • GC01M033030
  • GC01M033133
  • GC01M033360
  • GC01M031475

Summaries for TMEM54 Gene

GeneCards Summary for TMEM54 Gene

TMEM54 (Transmembrane Protein 54) is a Protein Coding gene. Diseases associated with TMEM54 include orofacial cleft and physical disorder. An important paralog of this gene is KRTCAP3.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM54 Gene

Genomics for TMEM54 Gene

Regulatory Elements for TMEM54 Gene

Promoters for TMEM54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM54 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM54 Gene

Chromosome:
1
Start:
32,894,594 bp from pter
End:
32,901,438 bp from pter
Size:
6,845 bases
Orientation:
Minus strand

Genomic View for TMEM54 Gene

Genes around TMEM54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM54 Gene

Proteins for TMEM54 Gene

  • Protein details for TMEM54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969K7-TMM54_HUMAN
    Recommended name:
    Transmembrane protein 54
    Protein Accession:
    Q969K7
    Secondary Accessions:
    • Q6UV18
    • Q8IVD0
    • Q9UM12

    Protein attributes for TMEM54 Gene

    Size:
    222 amino acids
    Molecular mass:
    23772 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA87335.1; Type=Frameshift; Positions=106, 165, 168, 222; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM54 Gene

Proteomics data for TMEM54 Gene at MOPED

Post-translational modifications for TMEM54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM54 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM54 Gene

Domains & Families for TMEM54 Gene

Protein Domains for TMEM54 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM54 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969K7

UniProtKB/Swiss-Prot:

TMM54_HUMAN :
  • Belongs to the TMEM54 family.
Family:
  • Belongs to the TMEM54 family.
genes like me logo Genes that share domains with TMEM54: view

No data available for Gene Families for TMEM54 Gene

Function for TMEM54 Gene

genes like me logo Genes that share phenotypes with TMEM54: view

Animal Model Products

CRISPR Products

miRNA for TMEM54 Gene

miRTarBase miRNAs that target TMEM54

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM54 Gene

Localization for TMEM54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM54 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM54 Gene COMPARTMENTS Subcellular localization image for TMEM54 gene
Compartment Confidence
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for TMEM54 Gene

Pathways & Interactions for TMEM54 Gene

SuperPathways for TMEM54 Gene

No Data Available

Interacting Proteins for TMEM54 Gene

Gene Ontology (GO) - Biological Process for TMEM54 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM54 Gene

Drugs & Compounds for TMEM54 Gene

No Compound Related Data Available

Transcripts for TMEM54 Gene

Unigene Clusters for TMEM54 Gene

Transmembrane protein 54:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM54 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8
SP1: - -
SP2:
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - -

Relevant External Links for TMEM54 Gene

GeneLoc Exon Structure for
TMEM54
ECgene alternative splicing isoforms for
TMEM54

Expression for TMEM54 Gene

mRNA expression in normal human tissues for TMEM54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM54 Gene

This gene is overexpressed in Colon - Transverse (x9.1).

Protein differential expression in normal tissues from HIPED for TMEM54 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEM54 Gene



SOURCE GeneReport for Unigene cluster for TMEM54 Gene Hs.534521

mRNA Expression by UniProt/SwissProt for TMEM54 Gene

Q969K7-TMM54_HUMAN
Tissue specificity: Ubiquitously expressed in cancer cell lines.
genes like me logo Genes that share expression patterns with TMEM54: view

Protein tissue co-expression partners for TMEM54 Gene

Primer Products

In Situ Assay Products

Orthologs for TMEM54 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM54 35
  • 99.54 (n)
  • 99.54 (a)
TMEM54 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM54 36
  • 86 (a)
OneToOne
TMEM54 35
  • 86.34 (n)
  • 85.59 (a)
dog
(Canis familiaris)
Mammalia TMEM54 35
  • 88.74 (n)
  • 90.54 (a)
TMEM54 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem54 16
Tmem54 36
  • 76 (a)
OneToOne
Tmem54 35
  • 79.42 (n)
  • 76.5 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM54 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM54 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem54 35
  • 79.94 (n)
  • 76.85 (a)
lizard
(Anolis carolinensis)
Reptilia TMEM54 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem54 35
  • 52.24 (n)
  • 45.77 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem54 36
  • 24 (a)
OneToMany
TMEM54 (2 of 2) 36
  • 26 (a)
OneToMany
Species with no ortholog for TMEM54:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM54 Gene

ENSEMBL:
Gene Tree for TMEM54 (if available)
TreeFam:
Gene Tree for TMEM54 (if available)

Paralogs for TMEM54 Gene

Paralogs for TMEM54 Gene

(1) SIMAP similar genes for TMEM54 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEM54: view

Variants for TMEM54 Gene

Sequence variations from dbSNP and Humsavar for TMEM54 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10914632 - 32,895,686(-) GTGCC(C/T)TCGGC reference, missense
rs2274063 -- 32,898,324(+) CCTGT(G/T)GGGGA intron-variant
rs34622520 -- 32,895,665(-) CCATC(A/G)CCATG reference, missense
rs34259354 -- 32,895,719(+) GCCAC(-/T)GCTCG reference, frameshift-variant
rs56982020 -- 32,899,891(+) TGGTC(A/C)AGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM54 Gene

Variant ID Type Subtype PubMed ID
nsv516302 CNV Loss 19592680
dgv212n71 CNV Loss 21882294

Variation tolerance for TMEM54 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM54 Gene

HapMap Linkage Disequilibrium report
TMEM54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM54 Gene

Disorders for TMEM54 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM54 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orofacial cleft
physical disorder
  • physical illness
cleft palate, isolated
  • cleft palate
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM54
genes like me logo Genes that share disorders with TMEM54: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM54 Gene

Publications for TMEM54 Gene

  1. Cloning and characterization of a cDNA fragment coding beta-casein- like protein preferentially expressed in cervical adenocarcinoma cell line CAC-1. (PMID: 9500206) Suzuki T. … Kudo R. (Cancer Lett. 1998) 2 3 4 23 67
  2. Identification and characterization of CAC1 as a novel CDK2- associated cullin. (PMID: 19829063) Kong Y. … Yin Y. (Cell Cycle 2009) 3 23
  3. CAC1 negatively regulates RARI+ activity through cooperation with HDAC. (PMID: 22982681) Moon M. … Kim E.J. (Biochem. Biophys. Res. Commun. 2012) 3
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for TMEM54 Gene

Sources for TMEM54 Gene

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