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TMEM147 transmembrane protein 147 [ Homo sapiens (human) ]

Gene ID: 10430, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in kidney (RPKM 36.7), thyroid (RPKM 34.7) and 25 other tissues See more
Orthologs
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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: 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. 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.

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