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    TMEM128 transmembrane protein 128 [ Homo sapiens (human) ]

    Gene ID: 85013, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM128provided by HGNC
    Official Full Name
    transmembrane protein 128provided by HGNC
    Primary source
    HGNC:HGNC:28201
    See related
    Ensembl:ENSG00000132406 AllianceGenome:HGNC:28201
    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
    Ubiquitous expression in thyroid (RPKM 9.8), testis (RPKM 8.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM128 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4235542..4248223, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4204964..4217644, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4237269..4249950, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 43 pseudogene Neighboring gene otopetrin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4227786-4228406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4229028-4229648 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:4249292-4249918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4258767-4259267 Neighboring gene Sharpr-MPRA regulatory region 9855 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4271128-4271305 Neighboring gene Ly1 antibody reactive Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4289830-4290368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4290369-4290906 Neighboring gene zinc finger and BTB domain containing 49

    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. An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka. Nanayakkara S, et al. J Occup Health, 2014. PMID 24351856
    2. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Passantino R, et al. Biochim Biophys Acta, 2013 Mar. PMID 23142642
    3. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
    4. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    5. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article

    See all (16) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC13159, MGC110944

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 128

    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_001297551.2 → NP_001284480.1  transmembrane protein 128 isoform 1

      See identical proteins and their annotated locations for NP_001284480.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK296007, BC007729, BC091482
      Consensus CDS
      CCDS75099.1
      UniProtKB/Swiss-Prot
      B4DHS7, D3DVS1, D3DVS3, Q5BJH2, Q5H9U6, Q96I94
      UniProtKB/TrEMBL
      B7Z3K1
      Related
      ENSP00000372201.4, ENST00000382753.5

    2. NM_001297552.2 → NP_001284481.1  transmembrane protein 128 isoform 1

      See identical proteins and their annotated locations for NP_001284481.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC007729, BC091482, BM263799, DA019506
      Consensus CDS
      CCDS75099.1
      UniProtKB/Swiss-Prot
      B4DHS7, D3DVS1, D3DVS3, Q5BJH2, Q5H9U6, Q96I94
      UniProtKB/TrEMBL
      B7Z3K1

    3. NM_032927.4 → NP_116316.1  transmembrane protein 128 isoform 2

      See identical proteins and their annotated locations for NP_116316.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC011744, BC007729, BC091482
      Consensus CDS
      CCDS3373.1
      UniProtKB/Swiss-Prot
      Q5BJH2
      Related
      ENSP00000254742.2, ENST00000254742.6

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      4235542..4248223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248034.4 → XP_005248091.1  transmembrane protein 128 isoform X1

      See identical proteins and their annotated locations for XP_005248091.1

      UniProtKB/Swiss-Prot
      B4DHS7, D3DVS1, D3DVS3, Q5BJH2, Q5H9U6, Q96I94
      UniProtKB/TrEMBL
      B7Z3K1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      4204964..4217644 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351130.1 → XP_054207105.1  transmembrane protein 128 isoform X1

      UniProtKB/Swiss-Prot
      B4DHS7, D3DVS1, D3DVS3, Q5BJH2, Q5H9U6, Q96I94
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BJH2.2 GenPept UniProtKB/Swiss-Prot:Q5BJH2

    Gene LinkOut

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

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