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TMEM125 transmembrane protein 125 [ Homo sapiens (human) ]

Gene ID: 128218, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43269983..43274002)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43140490..43144509)
105.20220307 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
  • 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_2023_10

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

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