Aliases for TMEM54 Gene

Aliases for TMEM54 Gene

  • Transmembrane Protein 54 2 3 4 5
  • Beta-Casein-Like Protein 3 4
  • Protein CAC-1 3 4
  • BCLP 3 4
  • CAC1 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 Hard Palate Cancer and Cleft Soft Palate. An important paralog of this gene is KRTCAP3.

Additional gene information for TMEM54 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM54 Gene

Genomics for TMEM54 Gene

GeneHancer (GH) Regulatory Elements for TMEM54 Gene

Promoters and enhancers for TMEM54 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM54 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM54

Top Transcription factor binding sites by QIAGEN in the TMEM54 gene promoter:
  • AP-1
  • CUTL1
  • IRF-7A
  • MyoD
  • NF-1
  • NF-1/L
  • NRF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4

Genomic Locations for TMEM54 Gene

Genomic Locations for TMEM54 Gene
chr1:32,894,594-32,901,438
(GRCh38/hg38)
Size:
6,845 bases
Orientation:
Minus strand
chr1:33,360,195-33,367,039
(GRCh37/hg19)
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; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM54 Gene

Post-translational modifications for TMEM54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM54 Gene

No data available for DME Specific Peptides for TMEM54 Gene

Domains & Families for TMEM54 Gene

Gene Families for TMEM54 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM54 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM54 Gene

GenScript: Design optimal peptide antigens:
  • Protein CAC-1 (TMM54_HUMAN)

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

Function for TMEM54 Gene

Phenotypes From GWAS Catalog for TMEM54 Gene

Gene Ontology (GO) - Molecular Function for TMEM54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM54: view
genes like me logo Genes that share phenotypes with TMEM54: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM54 gene
Compartment Confidence
plasma membrane 3
extracellular 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM54: view

Pathways & Interactions for TMEM54 Gene

PathCards logo

SuperPathways for TMEM54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM54: view

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

mRNA/cDNA for TMEM54 Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for TMEM54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for TMEM54 Gene



Protein tissue co-expression partners for TMEM54 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM54

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.

Evidence on tissue expression from TISSUES for TMEM54 Gene

  • Intestine(4.4)
  • Nervous system(4.3)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with TMEM54: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM54 Gene

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 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM54 31 30
  • 88.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM54 31 30
  • 86.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem54 30
  • 79.94 (n)
mouse
(Mus musculus)
Mammalia Tmem54 17 31 30
  • 79.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM54 31
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM54 31
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM54 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem54 30
  • 52.24 (n)
zebrafish
(Danio rerio)
Actinopterygii TMEM54 (2 of 2) 31
  • 26 (a)
OneToMany
tmem54 31
  • 24 (a)
OneToMany
Species where no ortholog for TMEM54 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM54: view image

Paralogs for TMEM54 Gene

Paralogs for TMEM54 Gene

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

  • TMM54_HUMAN
genes like me logo Genes that share paralogs with TMEM54: view

Variants for TMEM54 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM54 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10914632 - p.Leu110Phe

Additional dbSNP identifiers (rs#s) for TMEM54 Gene

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

Variant ID Type Subtype PubMed ID
esv3576805 CNV gain 25503493
nsv516302 CNV loss 19592680
nsv950584 CNV deletion 24416366

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)

Additional Variant Information for TMEM54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM54

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

Disorders for TMEM54 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hard palate cancer
  • hard palate
cleft soft palate
  • cleft velum
cleft palate, isolated
  • cpi
physical disorder
  • physical illness
orofacial cleft
  • cleft, orofacial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 letters 1998) 2 3 4 23 54
  2. Identification and characterization of CAC1 as a novel CDK2-associated cullin. (PMID: 19829063) Kong Y … Yin Y (Cell cycle (Georgetown, Tex.) 2009) 3 23 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Specific detection of circulating tumor cells by reverse transcriptase-polymerase chain reaction of a beta-casein-like protein, preferentially expressed in malignant neoplasms. (PMID: 11724320) Baba T … Kudo R (Anticancer research 2001) 3 23 54
  5. Cloning and characterization of a tumor-associated antigen, beta-casein-like protein. (PMID: 11394883) Baba T … Kudo R (Biochemical and biophysical research communications 2001) 3 4 54

Products for TMEM54 Gene

Sources for TMEM54 Gene