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TMEM128 transmembrane protein 128 [ Homo sapiens (human) ]

Gene ID: 85013, updated on 7-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 9.8), testis (RPKM 8.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4p16.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4235542..4248223, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4204964..4217644, complement)
105.20220307 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 (15) 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 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_2023_10

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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