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TMEM121 transmembrane protein 121 [ Homo sapiens (human) ]

Gene ID: 80757, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM121provided by HGNC
Official Full Name
transmembrane protein 121provided by HGNC
Primary source
HGNC:HGNC:20511
See related
Ensembl:ENSG00000184986 AllianceGenome:HGNC:20511
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
hole; hhole; TMEM121A
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 1.4), spleen (RPKM 0.9) and 17 other tissues See more
Orthologs
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Genomic context

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See TMEM121 in Genome Data Viewer
Location:
14q32.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105526583..105530198)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99778054..99781666)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105992920..105996535)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105954409-105954980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6249 Neighboring gene hESC enhancers GRCh37_chr14:105956919-105957662 and GRCh37_chr14:105957663-105958406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6250 Neighboring gene cysteine rich protein 1 Neighboring gene tubulin epsilon and delta complex 1 Neighboring gene Sharpr-MPRA regulatory region 9919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105974095-105974596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105974597-105975096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105978261-105978760 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105986957-105987132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6253 Neighboring gene uncharacterized LOC105370697 Neighboring gene ATP synthase membrane subunit c locus 1 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
  • 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. Cardiac Specific Overexpression of hHole Attenuates Isoproterenol-Induced Hypertrophic Remodeling through Inhibition of Extracellular Signal-Regulated Kinases (ERKs) Signalling. Xu W, et al. Curr Mol Med, 2016. PMID 27211802
  2. Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease. Zhang Y, et al. J Huazhong Univ Sci Technolog Med Sci, 2010 Aug. PMID 20714865
  3. A novel six-transmembrane protein hhole functions as a suppressor in MAPK signaling pathways. Zhou J, et al. Biochem Biophys Res Commun, 2005 Jul 29. PMID 15950185
  4. Hole is a novel gene product expressed in the developing heart and brain. Nesset AL, et al. Mech Dev, 2002 Sep. PMID 12204283
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HHole as a novel repressor of cardiac hypertrophy.
    Title: Cardiac Specific Overexpression of hHole Attenuates Isoproterenol-Induced Hypertrophic Remodeling through Inhibition of Extracellular Signal-Regulated Kinases (ERKs) Signalling.
  2. There is an insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people. People with the BB genotype are at greater risk of congenital heart disease.
    Title: Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease.
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

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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Homology

Clone Names

  • MGC4659

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 121
Names
transmembrane protein 121A

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_001331238.2 → NP_001318167.1  transmembrane protein 121

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL928654, BC004221
    Consensus CDS
    CCDS10006.1
    UniProtKB/Swiss-Prot
    Q9BTD3
    Conserved Domains (1) summary
    pfam14997
    Location:73 → 267
    CECR6_TMEM121; CECR6/TMEM121 family

  2. NM_025268.4 → NP_079544.1  transmembrane protein 121

    See identical proteins and their annotated locations for NP_079544.1

    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)
    AL928654, BC004221, HY134492
    Consensus CDS
    CCDS10006.1
    UniProtKB/Swiss-Prot
    Q9BTD3
    Related
    ENSP00000376304.2, ENST00000392519.7
    Conserved Domains (1) summary
    pfam14997
    Location:73 → 267
    CECR6_TMEM121; CECR6/TMEM121 family

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    105526583..105530198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99778054..99781666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BTD3.1 GenPept UniProtKB/Swiss-Prot:Q9BTD3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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