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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

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
GH01F032933 0.6 Ensembl ENCODE 14.1 -33.9 -33853 4.4 MLX ARID4B SIN3A ZNF48 YY1 GATA2 YY2 SP5 REST KAT8 TMEM54 KPNA6 AK2 AZIN2 FNDC5 RNF19B GC01M032924 GC01P032965
GH01F032939 1.7 FANTOM5 Ensembl ENCODE 13.4 -39.4 -39403 3.4 HDAC1 TBL1XR1 GATA2 FOS CREM EGR2 USF2 CREB3 ZNF589 KLF16 RNF19B TMEM54 FNDC5 AK2 AZIN2 GC01M032924 GC01P032965
GH01F032952 0.5 Ensembl ENCODE 13.4 -52.4 -52391 2.3 JUN HLF EP300 ZFP69B OSR2 ZNF692 GLIS1 FOS TMEM54 AK2 AZIN2 FNDC5 RNF19B GC01P032965 GC01M032924
GH01F032961 1.2 FANTOM5 ENCODE 13.2 -62.3 -62287 3.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS RNF19B TMEM54 ENSG00000224066 IQCC DCDC2B PHC2 GC01P032965 GC01M032924
GH01F032924 1.2 Ensembl ENCODE 12.2 -23.8 -23770 1.5 CTCF SAP130 TEAD4 UBTF ZNF48 RAD21 ZNF316 ZNF366 NR2F6 FOS TMEM54 MTMR9LP FNDC5 AK2 AZIN2 EIF3I GC01M032924 GC01P032965
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM54 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001743531 238 1601 BCOR KLF1 KLF17 ZMYM3 ZBTB40 CCNT2 ZNF316 ZFHX2 GLIS2 POLR2A

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

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

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

miRNA for TMEM54 Gene

miRTarBase miRNAs that target TMEM54

Inhibitory RNA Products

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

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

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

Transcripts for TMEM54 Gene

Unigene Clusters for TMEM54 Gene

Transmembrane protein 54:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, 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.
genes like me logo Genes that share expression patterns with TMEM54: view

Primer 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 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia TMEM54 34 35
  • 88.74 (n)
cow
(Bos Taurus)
Mammalia TMEM54 34 35
  • 86.34 (n)
rat
(Rattus norvegicus)
Mammalia Tmem54 34
  • 79.94 (n)
mouse
(Mus musculus)
Mammalia Tmem54 34 16 35
  • 79.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM54 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM54 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM54 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem54 34
  • 52.24 (n)
zebrafish
(Danio rerio)
Actinopterygii TMEM54 (2 of 2) 35
  • 26 (a)
OneToMany
tmem54 35
  • 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
rs1053522 -- 32,894,742(-) TGTGA(C/T)CAGGC downstream-variant-500B, utr-variant-3-prime
rs1053542 -- 32,894,633(-) AATGA(A/G)ACTTT utr-variant-3-prime
rs1053919 -- 32,894,389(+) CCAGC(C/T)TGCCT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10914632 -- 32,895,686(-) GTGCC(C/T)TCGGC intron-variant, reference, missense
rs111327937 -- 32,901,439(+) GCCCC(C/G)CAGCG downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

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

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

Disorder Aliases PubMed IDs
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 Lett. 1998) 2 3 4 22 64
  2. Identification and characterization of CAC1 as a novel CDK2- associated cullin. (PMID: 19829063) Kong Y. … Yin Y. (Cell Cycle 2009) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Res. 2001) 3 22 64
  5. Cloning and characterization of a tumor-associated antigen, beta- casein-like protein. (PMID: 11394883) Baba T. … Kudo R. (Biochem. Biophys. Res. Commun. 2001) 3 4 64

Products for TMEM54 Gene

Sources for TMEM54 Gene

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