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    TMEM125 transmembrane protein 125 [ Homo sapiens (human) ]

    Gene ID: 128218, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in lung (RPKM 30.3), thyroid (RPKM 11.2) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    General gene information

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001320244.2NP_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:20114
      TMEM125; TMEM125 protein family
    2. NM_144626.3NP_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:20114
      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_011540705.3XP_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:20114
      TMEM125; TMEM125 protein family
    2. XM_047445955.1XP_047301911.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
    3. XM_005270467.5XP_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:20114
      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_054334418.1XP_054190393.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
    2. XM_054334420.1XP_054190395.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2
    3. XM_054334419.1XP_054190394.1  transmembrane protein 125 isoform X1

      UniProtKB/Swiss-Prot
      D3DPX1, Q96AQ2