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TMEM117 transmembrane protein 117 [ Homo sapiens (human) ]

Gene ID: 84216, updated on 3-May-2020

Summary

Official Symbol
TMEM117provided by HGNC
Official Full Name
transmembrane protein 117provided by HGNC
Primary source
HGNC:HGNC:25308
See related
Ensembl:ENSG00000139173
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
Expression
Ubiquitous expression in esophagus (RPKM 3.1), duodenum (RPKM 2.6) and 25 other tissues See more
Orthologs

Genomic context

See TMEM117 in Genome Data Viewer
Location:
12q12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (43795763..44389762)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44229853..44783543)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pseudouridine synthase 7 like Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene twinfilin actin binding protein 1 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 pseudogene Neighboring gene neural EGFL like 2 Neighboring gene uncharacterized LOC105369742 Neighboring gene developing brain homeobox 2

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

Homology

Clone Names

  • DKFZp434K2435

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001286211.1NP_001273140.1  transmembrane protein 117 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AI050061, BC042192, DB477248
    Consensus CDS
    CCDS73462.1
    UniProtKB/TrEMBL
    F8VS00
    Related
    ENSP00000448595.1, ENST00000551577.5
    Conserved Domains (1) summary
    pfam15113
    Location:4256
    TMEM117; TMEM117 protein family
  2. NM_001286212.1NP_001273141.1  transmembrane protein 117 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the central coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AI050061, BC030284, BC042192, DB477248
    UniProtKB/TrEMBL
    Q05C15
    Conserved Domains (1) summary
    pfam15113
    Location:67299
    TMEM117; TMEM117 protein family
  3. NM_001286213.1NP_001273142.1  transmembrane protein 117 isoform d

    See identical proteins and their annotated locations for NP_001273142.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus than isoform a.
    Source sequence(s)
    AI050061, AL136855, CF994089, DA007410
    UniProtKB/Swiss-Prot
    Q9H0C3
    Conserved Domains (1) summary
    pfam15113
    Location:1259
    TMEM117; TMEM117 protein family
  4. NM_032256.3NP_115632.1  transmembrane protein 117 isoform a

    See identical proteins and their annotated locations for NP_115632.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL136855, DB477248
    Consensus CDS
    CCDS8745.1
    UniProtKB/Swiss-Prot
    Q9H0C3
    Related
    ENSP00000266534.3, ENST00000266534.8
    Conserved Domains (1) summary
    pfam15113
    Location:4403
    TMEM117; TMEM117 protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    43795763..44389762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538831.3XP_011537133.1  transmembrane protein 117 isoform X1

    See identical proteins and their annotated locations for XP_011537133.1

    UniProtKB/Swiss-Prot
    Q9H0C3
    Conserved Domains (1) summary
    pfam15113
    Location:4403
    TMEM117; TMEM117 protein family
  2. XM_017020023.1XP_016875512.1  transmembrane protein 117 isoform X4

    Conserved Domains (1) summary
    pfam15113
    Location:1259
    TMEM117; TMEM117 protein family
  3. XM_011538832.2XP_011537134.1  transmembrane protein 117 isoform X1

    See identical proteins and their annotated locations for XP_011537134.1

    UniProtKB/Swiss-Prot
    Q9H0C3
    Conserved Domains (1) summary
    pfam15113
    Location:4403
    TMEM117; TMEM117 protein family
  4. XM_011538833.2XP_011537135.1  transmembrane protein 117 isoform X3

    Conserved Domains (1) summary
    pfam15113
    Location:53285
    TMEM117; TMEM117 protein family
  5. XM_017020022.1XP_016875511.1  transmembrane protein 117 isoform X2

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