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TMEM100 transmembrane protein 100 [ Homo sapiens (human) ]

Gene ID: 55273, updated on 22-Aug-2020

Summary

Official Symbol
TMEM100provided by HGNC
Official Full Name
transmembrane protein 100provided by HGNC
Primary source
HGNC:HGNC:25607
See related
Ensembl:ENSG00000166292 MIM:616334
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
Biased expression in lung (RPKM 28.4), fat (RPKM 14.1) and 10 other tissues See more
Orthologs

Genomic context

See TMEM100 in Genome Data Viewer
Location:
17q22
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (55719627..55732081, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53796988..53809482, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724732 Neighboring gene uncharacterized LOC101927389 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3823 Neighboring gene phosphatidylcholine transfer protein

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10970, FLJ37856

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
arterial endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to BMP stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to BMP stimulus IDA
Inferred from Direct Assay
more info
PubMed 
epithelial to mesenchymal transition involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perikaryon IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_001099640.2NP_001093110.1  transmembrane protein 100

    See identical proteins and their annotated locations for NP_001093110.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    BC010128, BQ027747, CB152959, DA579336
    Consensus CDS
    CCDS11587.1
    UniProtKB/Swiss-Prot
    Q9NV29
    Related
    ENSP00000465638.1, ENST00000575734.5
    Conserved Domains (1) summary
    pfam16311
    Location:2131
    TMEM100; Transmembrane protein 100
  2. NM_018286.3NP_060756.2  transmembrane protein 100

    See identical proteins and their annotated locations for NP_060756.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    BC010128, BQ027747, DA896013
    Consensus CDS
    CCDS11587.1
    UniProtKB/Swiss-Prot
    Q9NV29
    Related
    ENSP00000395328.2, ENST00000424486.3
    Conserved Domains (1) summary
    pfam16311
    Location:2131
    TMEM100; Transmembrane protein 100

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    55719627..55732081 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450826.1XP_024306594.1  transmembrane protein 100 isoform X1

    Conserved Domains (1) summary
    pfam16311
    Location:2131
    TMEM100; Transmembrane protein 100
  2. XM_017024815.1XP_016880304.1  transmembrane protein 100 isoform X1

    UniProtKB/Swiss-Prot
    Q9NV29
    Conserved Domains (1) summary
    pfam16311
    Location:2131
    TMEM100; Transmembrane protein 100
  3. XM_017024816.1XP_016880305.1  transmembrane protein 100 isoform X1

    UniProtKB/Swiss-Prot
    Q9NV29
    Conserved Domains (1) summary
    pfam16311
    Location:2131
    TMEM100; Transmembrane protein 100
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