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TMEM147 transmembrane protein 147 [ Homo sapiens (human) ]

Gene ID: 10430, updated on 26-May-2016
Official Symbol
TMEM147provided by HGNC
Official Full Name
transmembrane protein 147provided by HGNC
Primary source
HGNC:HGNC:30414
See related
Ensembl:ENSG00000105677 HPRD:17633; MIM:613585; Vega:OTTHUMG00000048105
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
NIFIE14
Orthologs
Location:
19q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (35545600..35547527)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36036502..36038429)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene suprabasin Neighboring gene glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Neighboring gene TMEM147 antisense RNA 1 Neighboring gene ATPase H+/K+ transporting alpha subunit Neighboring gene uncharacterized LOC102723617

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1936

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
transmembrane protein 147
Names
protein NIFIE 14
seven transmembrane domain protein

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_001242597.1NP_001229526.1  transmembrane protein 147 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, OTTHUMP00000045777, ENST00000392204, OTTHUMT00000109467
    Conserved Domains (1) summary
    pfam09767
    Location:1109
    DUF2053; Predicted membrane protein (DUF2053)
  2. NM_001242598.1NP_001229527.1  transmembrane protein 147 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_032635.3NP_116024.1  transmembrane protein 147 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
    Q9BVK8
    Related
    ENSP00000222284, OTTHUMP00000045779, ENST00000222284, OTTHUMT00000109469
    Conserved Domains (1) summary
    pfam09767
    Location:2158
    DUF2053; Predicted membrane protein (DUF2053)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    35545600..35547527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    36038068..36039995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)