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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
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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)

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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_001242597.2NP_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)