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    TMEM147 transmembrane protein 147 [ Homo sapiens (human) ]

    Gene ID: 10430, updated on 7-Apr-2024

    Summary

    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. Located in endoplasmic reticulum membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 36.7), thyroid (RPKM 34.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    19q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35545626..35547526)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38090572..38092472)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001242597.2NP_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:1109
      DUF2053; Predicted membrane protein (DUF2053)
    2. NM_001242598.2NP_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:269
      DUF2053; Predicted membrane protein (DUF2053)
    3. NM_032635.4NP_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:2155
      DUF2053; Predicted membrane protein (DUF2053)

    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_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)