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TMEM54 transmembrane protein 54 [ Homo sapiens (human) ]

Gene ID: 113452, updated on 2-Nov-2024

Summary

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Official Symbol
TMEM54provided by HGNC
Official Full Name
transmembrane protein 54provided by HGNC
Primary source
HGNC:HGNC:24143
See related
Ensembl:ENSG00000121900 AllianceGenome:HGNC:24143
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCLP; CAC1; CAC-1
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in colon (RPKM 134.2), small intestine (RPKM 52.7) and 15 other tissues See more
Orthologs
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Genomic context

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See TMEM54 in Genome Data Viewer
Location:
1p35.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32894595..32901389, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32754390..32761183, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33360196..33366990, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33333351-33333852 Neighboring gene fibronectin type III domain containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33338281-33339137 Neighboring gene uncharacterized LOC105378631 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33361017-33361615 Neighboring gene hippocalcin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 612 Neighboring gene uncharacterized LOC105378632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33390633-33391176 Neighboring gene Sharpr-MPRA regulatory region 2329 Neighboring gene ring finger protein 19B Neighboring gene NANOG hESC enhancer GRCh37_chr1:33413154-33413655 Neighboring gene metallothionein-1E-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Specific detection of circulating tumor cells by reverse transcriptase-polymerase chain reaction of a beta-casein-like protein, preferentially expressed in malignant neoplasms. Baba T, et al. Anticancer Res, 2001 Jul-Aug. PMID 11724320
  2. Cloning and characterization of a tumor-associated antigen, beta-casein-like protein. Baba T, et al. Biochem Biophys Res Commun, 2001 Jun 8. PMID 11394883
  3. Cloning and characterization of a cDNA fragment coding beta-casein-like protein preferentially expressed in cervical adenocarcinoma cell line CAC-1. Suzuki T, et al. Cancer Lett, 1998 Feb 27. PMID 9500206
  4. MicroRNA-148a-3p suppresses the glycolysis and Cell proliferation by targeting transmembrane protein 54 in liver cancer. Yuan X, et al. Biochem Biophys Res Commun, 2024 Feb 5. PMID 38169186
  5. CAC1 negatively regulates RARα activity through cooperation with HDAC. Moon M, et al. Biochem Biophys Res Commun, 2012 Oct 12. PMID 22982681

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA-148a-3p suppresses the glycolysis and Cell proliferation by targeting transmembrane protein 54 in liver cancer.
    Title: MicroRNA-148a-3p suppresses the glycolysis and Cell proliferation by targeting transmembrane protein 54 in liver cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10137

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 54
Names
beta-casein-like protein
cervical adenocarcinoma cell line 1 cDNA
protein CAC-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001329722.2 → NP_001316651.1  transmembrane protein 54 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC114493
    Conserved Domains (1) summary
    pfam12304
    Location:18 → 198
    BCLP; Beta-casein like protein

  2. NM_001329723.2 → NP_001316652.1  transmembrane protein 54 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 3' end of the coding sequence and lacks an in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC114493, AY359883, BC001418, BG703627, CN401565
    UniProtKB/Swiss-Prot
    Q969K7
    Conserved Domains (1) summary
    pfam12304
    Location:18 → 179
    BCLP; Beta-casein like protein

  3. NM_001329724.2 → NP_001316653.1  transmembrane protein 54 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC114493, BC001418, BG703627, BI761922, CN401565
    UniProtKB/Swiss-Prot
    Q969K7
    Related
    ENST00000474144.5

  4. NM_001329725.2 → NP_001316654.1  transmembrane protein 54 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses two alternate in-frame splice junctions and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC023260
    Consensus CDS
    CCDS85954.1
    UniProtKB/Swiss-Prot
    Q969K7
    Related
    ENSP00000328630.5, ENST00000329151.5
    Conserved Domains (1) summary
    pfam12304
    Location:18 → 146
    BCLP; Beta-casein like protein

  5. NM_033504.4 → NP_277039.1  transmembrane protein 54 isoform 2

    See identical proteins and their annotated locations for NP_277039.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end of the coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC001418, CN401565
    Consensus CDS
    CCDS371.1
    UniProtKB/Swiss-Prot
    Q6UV18, Q8IVD0, Q969K7, Q9UM12
    Related
    ENSP00000362562.3, ENST00000373463.8
    Conserved Domains (1) summary
    pfam12304
    Location:18 → 199
    BCLP; Beta-casein like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    32894595..32901389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    32754390..32761183 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969K7.1 GenPept UniProtKB/Swiss-Prot:Q969K7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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