Details for: TMEM147

Gene ID: 10430

Symbol: TMEM147

Ensembl ID: ENSG00000105677

Description: transmembrane protein 147

Associated with

Other Information

Genular Protein ID: 4235059915

Symbol: TM147_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BVK8 A8MWW0 O75790

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20538592

Title: Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex.

PubMed ID: 20538592

DOI: 10.1074/jbc.m110.132548

PubMed ID: 21056967

Title: Regulation of M(3) muscarinic receptor expression and function by transmembrane protein 147.

PubMed ID: 21056967

DOI: 10.1124/mol.110.067363

PubMed ID: 32820719

Title: An ER translocon for multi-pass membrane protein biogenesis.

PubMed ID: 32820719

DOI: 10.7554/elife.56889

PubMed ID: 32694168

Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.

PubMed ID: 32694168

DOI: 10.1242/jcs.245357

PubMed ID: 36261522

Title: Substrate-driven assembly of a translocon for multipass membrane proteins.

PubMed ID: 36261522

DOI: 10.1038/s41586-022-05330-8

PubMed ID: 36044892

Title: Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly.

PubMed ID: 36044892

DOI: 10.1016/j.ajhg.2022.08.008

Sequence Information:

  • Length: 224
  • Mass: 25261
  • Checksum: 90122F32C34F16AE
  • Sequence:
    • MTLFHFGNCF ALAYFPYFIT YKCSGLSEYN AFWKCVQAGV TYLFVQLCKM LFLATFFPTW 
EGGIYDFIGE FMKASVDVAD LIGLNLVMSR NAGKGEYKIM VAALGWATAE LIMSRCIPLW 
VGARGIEFDW KYIQMSIDSN ISLVHYIVAS AQVWMITRYD LYHTFRPAVL LLMFLSVYKA 
FVMETFVHLC SLGSWAALLA RAVVTGLLAL STLALYVAVV NVHS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.