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    TMEM147 transmembrane protein 147 [ Homo sapiens (human) ]

    Gene ID: 10430, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM147provided by HGNC
    Official Full Name
    transmembrane protein 147provided by HGNC
    Primary source
    HGNC:HGNC:30414
    See related
    Ensembl:ENSG00000105677 MIM:613585; AllianceGenome:HGNC:30414
    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
    Also known as
    NEDFLPH; NIFIE14
    Summary
    Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 36.7), thyroid (RPKM 34.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM147 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35545626..35547526)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38090572..38092472)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36036528..36038428)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36016123-36016795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36017917-36018418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36019864-36020364 Neighboring gene suprabasin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14483 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36031035-36031534 Neighboring gene TMEM147 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36033929-36034430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36036145-36036837 Neighboring gene ATPase H+/K+ transporting subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36048997-36049612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36055715-36056216 Neighboring gene uncharacterized LOC124904704

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma. Cheng S, et al. Anal Cell Pathol (Amst), 2023. PMID 37305689, Free PMC Article
    2. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Thomas Q, et al. Am J Hum Genet, 2022 Oct 6. PMID 36044892, Free PMC Article
    3. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Ghorashi T, et al. Neurogenetics, 2023 Oct. PMID 37668766
    4. Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147. Maimaris G, et al. Int J Mol Sci, 2021 Sep 23. PMID 34638576, Free PMC Article
    5. TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis. Christodoulou A, et al. J Cell Sci, 2020 Aug 21. PMID 32694168

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
      Title: A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
    2. TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma.
      Title: TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma.
    3. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly.
      Title: Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
    4. Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147.
      Title: Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147.
    5. TMEM147 is a novel core component of the Nicalin-NOMO complex, further emphasizing its similarity with gamma-secretase.
      Title: Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
    MedGen: C5774232 OMIM: 620075 GeneReviews: Not available
    		not available

    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

    • MGC1936

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in multi-pass transmembrane protein insertion into ER membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of multi-pass translocon complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BOS complex subunit TMEM147
    Names
    protein NIFIE 14
    seven transmembrane domain protein

    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_001242597.2 → NP_001229526.1  BOS complex subunit TMEM147 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a splice site in the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AW130399, AW473288, BG697070, BM423809
      Consensus CDS
      CCDS56091.1
      UniProtKB/Swiss-Prot
      Q9BVK8
      Related
      ENSP00000376040.1, ENST00000392204.6
      Conserved Domains (1) summary
      pfam09767
      Location:1 → 109
      DUF2053; Predicted membrane protein (DUF2053)

    2. NM_001242598.2 → NP_001229527.1  BOS complex subunit TMEM147 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two consecutive exons in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AW130399, BM423809, BM765457
      Conserved Domains (1) summary
      pfam09767
      Location:2 → 69
      DUF2053; Predicted membrane protein (DUF2053)

    3. NM_032635.4 → NP_116024.1  BOS complex subunit TMEM147 isoform 1

      See identical proteins and their annotated locations for NP_116024.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AW130399, BC001118, BM423809
      Consensus CDS
      CCDS12466.1
      UniProtKB/Swiss-Prot
      A8MWW0, O75790, Q9BVK8
      UniProtKB/TrEMBL
      A8MU21
      Related
      ENSP00000222284.4, ENST00000222284.10
      Conserved Domains (1) summary
      pfam09767
      Location:2 → 155
      DUF2053; Predicted membrane protein (DUF2053)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35545626..35547526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38090572..38092472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVK8.1 GenPept UniProtKB/Swiss-Prot:Q9BVK8

    Gene LinkOut

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

    Chemical Information
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