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    TMEM125 transmembrane protein 125 [ Homo sapiens (human) ]

    Gene ID: 128218, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM125provided by HGNC
    Official Full Name
    transmembrane protein 125provided by HGNC
    Primary source
    HGNC:HGNC:28275
    See related
    Ensembl:ENSG00000179178 AllianceGenome:HGNC:28275
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung (RPKM 30.3), thyroid (RPKM 11.2) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM125 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43269983..43274002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43140490..43144509)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43735654..43739673)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378685 Neighboring gene cilia and flagella associated protein 57 Neighboring gene RNA, 5S ribosomal pseudogene 46 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43671864-43673063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 914 Neighboring gene uncharacterized LOC124904164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43735285-43735788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751233-43751791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751792-43752349 Neighboring gene chromosome 1 open reading frame 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 915 Neighboring gene tyrosine kinase with immunoglobulin like and EGF like domains 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813

    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. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General gene information

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    Homology

    Clone Names

    • MGC17299

    Gene Ontology Provided by GOA

    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
    		  
    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 125

    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_001320244.2 → NP_001307173.1  transmembrane protein 125

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093420, BC072393, BI768096
      Consensus CDS
      CCDS480.1
      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
      Related
      ENSP00000429275.1, ENST00000432792.6
      Conserved Domains (1) summary
      pfam15109
      Location:20 → 114
      TMEM125; TMEM125 protein family

    2. NM_144626.3 → NP_653227.1  transmembrane protein 125

      See identical proteins and their annotated locations for NP_653227.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093420, BI768096, BI821566, BM677938
      Consensus CDS
      CCDS480.1
      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
      Related
      ENSP00000429775.1, ENST00000439858.6
      Conserved Domains (1) summary
      pfam15109
      Location:20 → 114
      TMEM125; TMEM125 protein family

    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
      43269983..43274002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540705.3 → XP_011539007.1  transmembrane protein 125 isoform X1

      See identical proteins and their annotated locations for XP_011539007.1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
      Conserved Domains (1) summary
      pfam15109
      Location:20 → 114
      TMEM125; TMEM125 protein family

    2. XM_047445955.1 → XP_047301911.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2

    3. XM_005270467.5 → XP_005270524.1  transmembrane protein 125 isoform X1

      See identical proteins and their annotated locations for XP_005270524.1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
      Conserved Domains (1) summary
      pfam15109
      Location:20 → 114
      TMEM125; TMEM125 protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43140490..43144509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334418.1 → XP_054190393.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2

    2. XM_054334420.1 → XP_054190395.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2

    3. XM_054334419.1 → XP_054190394.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AQ2.1 GenPept UniProtKB/Swiss-Prot:Q96AQ2

    Gene LinkOut

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

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