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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 Cleft Palate, Isolated and Orofacial Cleft. 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 , 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

Enhancers for TMEM54 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H032939 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -39.4 -39403 3 HDAC1 ATF1 TBL1XR1 TCF12 ZNF766 GATA2 EGR1 FOS CREM EGR2 RNF19B TMEM54 FNDC5 AK2 AZIN2 GC01M032924 GC01P032965
GH01H032961 1.7 FANTOM5 ENCODE dbSUPER 13.3 -62.3 -62287 3 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 ZNF143 ZNF207 SP3 SP5 RNF19B KHDRBS1 TMEM39B TMEM54 ENSG00000224066 RBBP4 ZSCAN20 S100PBP ZBTB8OS TXLNA
GH01H032933 1.5 Ensembl ENCODE dbSUPER 14.1 -33.9 -33853 4 FOXA2 MLX ARID4B YY1 GATA2 ZNF143 SP5 YY2 REST KAT8 TMEM54 KPNA6 AK2 AZIN2 FNDC5 RNF19B GC01M032924 GC01P032965
GH01H032952 0.9 ENCODE dbSUPER 13.4 -52.4 -52391 2 JUN EP300 OSR2 ZFP69B JUND PRDM6 ZNF692 GLIS1 ZSCAN5C ZBTB33 TMEM54 AZIN2 AK2 FNDC5 RNF19B GC01P032965 GC01M032924
GH01H032924 0.9 ENCODE dbSUPER 12.2 -23.7 -23736 1 CTCF SAP130 HLF NR2F1 RAD21 ZNF366 KLF16 ZNF341 NR2F6 PRDM1 TMEM54 FNDC5 AK2 AZIN2 GC01M032924 GC01P032965
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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:

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

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

miRNA for TMEM54 Gene

miRTarBase miRNAs that target TMEM54

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM54
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

SuperPathways for TMEM54 Gene

No Data Available

Interacting Proteins for TMEM54 Gene

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

Unigene Clusters for TMEM54 Gene

Transmembrane protein 54:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM54
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for TMEM54 Gene



Protein tissue co-expression partners for TMEM54 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM54 Gene:

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

Primer Products

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 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia TMEM54 33 34
  • 88.74 (n)
cow
(Bos Taurus)
Mammalia TMEM54 33 34
  • 86.34 (n)
rat
(Rattus norvegicus)
Mammalia Tmem54 33
  • 79.94 (n)
mouse
(Mus musculus)
Mammalia Tmem54 33 16 34
  • 79.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM54 34
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM54 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM54 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem54 33
  • 52.24 (n)
zebrafish
(Danio rerio)
Actinopterygii TMEM54 (2 of 2) 34
  • 26 (a)
OneToMany
tmem54 34
  • 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)

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
rs1000584988 -- 32,898,055(+) GGGTG(A/G)GGACC intron-variant
rs1000960075 -- 32,895,089(+) CTCAT(C/G)CTGGG intron-variant, downstream-variant-500B
rs1001058557 -- 32,901,885(+) TAGTC(C/G)GGAGG nc-transcript-variant, upstream-variant-2KB
rs1001110439 -- 32,901,223(+) CTCAC(C/T)GAGGC downstream-variant-500B, reference, missense
rs1001250472 -- 32,900,959(+) CGTGC(C/G)CCTCC intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
cleft palate, isolated
  • isolated cleft palate
orofacial cleft
physical disorder
  • physical illness
hard palate cancer
  • hard 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 letters 1998) 2 3 4 22 60
  2. Identification and characterization of CAC1 as a novel CDK2-associated cullin. (PMID: 19829063) Kong Y … Yin Y (Cell cycle (Georgetown, Tex.) 2009) 3 22 60
  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 60
  4. 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 60
  5. 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 22 60

Products for TMEM54 Gene

Sources for TMEM54 Gene

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