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Tmem53 transmembrane protein 53 [ Mus musculus (house mouse) ]

Gene ID: 68777, updated on 5-Mar-2024

Summary

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Official Symbol
Tmem53provided by MGI
Official Full Name
transmembrane protein 53provided by MGI
Primary source
MGI:MGI:1916027
See related
Ensembl:ENSMUSG00000048772 AllianceGenome:MGI:1916027
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110038M16Rik; 1500001P22Rik; 1700012A05Rik
Summary
Predicted to be located in membrane. Predicted to be integral component of membrane. Orthologous to human TMEM53 (transmembrane protein 53). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 307.2), adrenal adult (RPKM 61.0) and 4 other tissues See more
Orthologs
human all
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Genomic context

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See Tmem53 in Genome Data Viewer
Location:
4 D1; 4 53.43 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (117109148..117125785)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (117251951..117268588)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1651 Neighboring gene predicted gene, 23143 Neighboring gene predicted gene, 23287 Neighboring gene armadillo-like helical domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116923419-116923602 Neighboring gene STARR-positive B cell enhancer ABC_E7982 Neighboring gene STARR-seq mESC enhancer starr_11163 Neighboring gene ring finger protein 220 Neighboring gene predicted gene 12843 Neighboring gene predicted gene, 40231

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Cell-specific and lamin-dependent targeting of novel transmembrane proteins in the nuclear envelope. Malik P, et al. Cell Mol Life Sci, 2010 Apr. PMID 20091084, Free PMC Article
  2. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Guo L, et al. Nat Commun, 2021 Apr 6. PMID 33824347, Free PMC Article
  3. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504
  4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of ossification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of ossification ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of nucleocytoplasmic transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of nucleocytoplasmic transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 53
Names
nuclear envelope transmembrane protein 4

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_001285812.1 → NP_001272741.1  transmembrane protein 53 isoform a

    See identical proteins and their annotated locations for NP_001272741.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK004164, AL671866, AL844169, AW049729
    Consensus CDS
    CCDS71453.1
    UniProtKB/TrEMBL
    A0A0A0MQK8
    Related
    ENSMUSP00000102042.2, ENSMUST00000106434.8
    Conserved Domains (1) summary
    pfam05705
    Location:41 → 277
    DUF829; Eukaryotic protein of unknown function (DUF829)

  2. NM_001285814.1 → NP_001272743.1  transmembrane protein 53 isoform c

    See identical proteins and their annotated locations for NP_001272743.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct and shorter N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
    Source sequence(s)
    AK004164, AL671866, AL844169, AW049729
    Consensus CDS
    CCDS71454.1
    UniProtKB/TrEMBL
    A0A0A0MQK8
    Related
    ENSMUSP00000121458.2, ENSMUST00000125943.8
    Conserved Domains (1) summary
    pfam05705
    Location:19 → 255
    DUF829; Eukaryotic protein of unknown function (DUF829)

  3. NM_001285815.1 → NP_001272744.1  transmembrane protein 53 isoform d

    See identical proteins and their annotated locations for NP_001272744.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform d.
    Source sequence(s)
    AK004164, AL671866, AL844169, AW049729, BE647557
    UniProtKB/Swiss-Prot
    Q9D0Z3
    Conserved Domains (1) summary
    pfam05705
    Location:13 → 199
    DUF829; Eukaryotic protein of unknown function (DUF829)

  4. NM_001285816.1 → NP_001272745.1  transmembrane protein 53 isoform d

    See identical proteins and their annotated locations for NP_001272745.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform d.
    Source sequence(s)
    AK004164, AL671866, AL844169, AW049729
    UniProtKB/Swiss-Prot
    Q9D0Z3
    Conserved Domains (1) summary
    pfam05705
    Location:13 → 199
    DUF829; Eukaryotic protein of unknown function (DUF829)

  5. NM_026837.3 → NP_081113.1  transmembrane protein 53 isoform b

    See identical proteins and their annotated locations for NP_081113.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AK004164, AL671866, AL844169, AW049729
    Consensus CDS
    CCDS18533.1
    UniProtKB/Swiss-Prot
    A2AE66, Q8VDW5, Q9D0Z3, Q9DAF0
    UniProtKB/TrEMBL
    A0A0A0MQK8
    Related
    ENSMUSP00000061523.6, ENSMUST00000062824.12
    Conserved Domains (1) summary
    pfam05705
    Location:34 → 270
    DUF829; Eukaryotic protein of unknown function (DUF829)

  6. NM_029589.1 → NP_083865.1  transmembrane protein 53 isoform c

    See identical proteins and their annotated locations for NP_083865.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes alternate 5' exon structure and it thus differs in its 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct and shorter N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
    Source sequence(s)
    AK005104, AK005885, AL844169
    Consensus CDS
    CCDS71454.1
    UniProtKB/TrEMBL
    A0A0A0MQK8
    Related
    ENSMUSP00000102041.2, ENSMUST00000106433.2
    Conserved Domains (1) summary
    pfam05705
    Location:19 → 255
    DUF829; Eukaryotic protein of unknown function (DUF829)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    117109148..117125785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253755.2 → XP_030109615.1  transmembrane protein 53 isoform X1

    Conserved Domains (1) summary
    pfam05705
    Location:13 → 199
    DUF829; Eukaryotic protein of unknown function (DUF829)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D0Z3.1 GenPept UniProtKB/Swiss-Prot:Q9D0Z3

Gene LinkOut

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

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