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TMEM170A transmembrane protein 170A [ Homo sapiens (human) ]

Gene ID: 124491, updated on 2-Nov-2024

Summary

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Official Symbol
TMEM170Aprovided by HGNC
Official Full Name
transmembrane protein 170Aprovided by HGNC
Primary source
HGNC:HGNC:29577
See related
Ensembl:ENSG00000166822 MIM:620630; AllianceGenome:HGNC:29577
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
TMEM170
Summary
Involved in endoplasmic reticulum tubular network organization; nuclear envelope organization; and nuclear pore complex assembly. Located in endoplasmic reticulum membrane and nuclear envelope. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in colon (RPKM 6.4), duodenum (RPKM 5.6) and 25 other tissues See more
Orthologs
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Genomic context

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See TMEM170A in Genome Data Viewer
Location:
16q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75443054..75464737, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81488941..81510632, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75476952..75498635, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene craniofacial development protein 1 Neighboring gene small nucleolar RNA SNORA76 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:75465381-75465580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7719 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75467440-75468007 Neighboring gene tigger transposable element-derived protein 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75490353-75490854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11131 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75498257-75498757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75505547-75506189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11133 Neighboring gene carbohydrate sulfotransferase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7721 Neighboring gene TMEM231 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk. Gertow K, et al. Circ Cardiovasc Genet, 2012 Dec. PMID 23152477
  2. Transmembrane protein TMEM170A is a newly discovered regulator of ER and nuclear envelope morphogenesis in human cells. Christodoulou A, et al. J Cell Sci, 2016 Apr 15. PMID 26906412, Free PMC Article
  3. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. Dastani Z, et al. Eur J Hum Genet, 2010 Mar. PMID 19844255, Free PMC Article
  4. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
  5. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. this paper shows that that downregulation of TMEM170A specifically induces tubular endoplasmic reticulum formation, whereas overexpression of TMEM170A induces endoplasmic reticulum sheet formation.
    Title: Transmembrane protein TMEM170A is a newly discovered regulator of ER and nuclear envelope morphogenesis in human cells.
  2. This study identified rs4888378 in the BCAR1-CFDP1-TMEM170A locus as a novel genetic determinant of carotid intima-media thickness and coronary artery disease risk.
    Title: Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37611

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endoplasmic reticulum tubular network organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear envelope organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear pore complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transmembrane protein 170A
Names
transmembrane protein 170

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_001304996.2 → NP_001291925.1  transmembrane protein 170A isoform 2

    See identical proteins and their annotated locations for NP_001291925.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC009163, AK298475
    Consensus CDS
    CCDS76901.1
    UniProtKB/Swiss-Prot
    Q8WVE7
    Related
    ENSP00000350230.4, ENST00000357613.8
    Conserved Domains (1) summary
    pfam10190
    Location:42 → 117
    Tmemb_170; Putative transmembrane protein 170

  2. NM_001304997.2 → NP_001291926.1  transmembrane protein 170A isoform 3

    See identical proteins and their annotated locations for NP_001291926.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5'-terminal exon and an alternate start codon compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC009163, AK094930
    Consensus CDS
    CCDS76900.1
    UniProtKB/TrEMBL
    B3KT46
    Related
    ENSP00000455491.1, ENST00000569540.5
    Conserved Domains (1) summary
    pfam10190
    Location:7 → 102
    Tmemb_170; Putative transmembrane protein 170

  3. NM_001304998.1 → NP_001291927.1  transmembrane protein 170A isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks part of the 5' coding region, uses an alternate splice site in the 3' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) is shorter compared to isoform 1.
    Source sequence(s)
    AC009163, DA370427
    Consensus CDS
    CCDS76899.1
    UniProtKB/TrEMBL
    H3BRD7
    Related
    ENSP00000456194.1, ENST00000566980.1
    Conserved Domains (1) summary
    pfam10190
    Location:1 → 72
    Tmemb_170; Putative transmembrane protein 170

  4. NM_145254.3 → NP_660297.1  transmembrane protein 170A isoform 1

    See identical proteins and their annotated locations for NP_660297.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC009163, AK311919
    Consensus CDS
    CCDS10917.1
    UniProtKB/Swiss-Prot
    B2R4R3, B4DPS4, D3DUK2, Q7Z6F3, Q8WVE7
    Related
    ENSP00000454404.1, ENST00000561878.2
    Conserved Domains (1) summary
    pfam10190
    Location:39 → 144
    Tmemb_170; Putative transmembrane protein 170

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    75443054..75464737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022941.2 → XP_016878430.1  transmembrane protein 170A isoform X4

    UniProtKB/TrEMBL
    H3BS26
    Related
    ENSP00000456509.1, ENST00000567796.1

  2. XM_017022943.2 → XP_016878432.1  transmembrane protein 170A isoform X6

  3. XM_017022940.2 → XP_016878429.1  transmembrane protein 170A isoform X3

  4. XM_011522869.3 → XP_011521171.1  transmembrane protein 170A isoform X1

    Conserved Domains (1) summary
    pfam10190
    Location:36 → 131
    Tmemb_170; Putative transmembrane protein 170

  5. XM_017022942.2 → XP_016878431.1  transmembrane protein 170A isoform X5

  6. XM_017022939.2 → XP_016878428.1  transmembrane protein 170A isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    81488941..81510632 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379617.1 → XP_054235592.1  transmembrane protein 170A isoform X4

  2. XM_054379613.1 → XP_054235588.1  transmembrane protein 170A isoform X6

  3. XM_054379616.1 → XP_054235591.1  transmembrane protein 170A isoform X3

  4. XM_054379614.1 → XP_054235589.1  transmembrane protein 170A isoform X1

  5. XM_054379618.1 → XP_054235593.1  transmembrane protein 170A isoform X5

  6. XM_054379615.1 → XP_054235590.1  transmembrane protein 170A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVE7.1 GenPept UniProtKB/Swiss-Prot:Q8WVE7

Gene LinkOut

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