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TMCO5A transmembrane and coiled-coil domains 5A [ Homo sapiens (human) ]

Gene ID: 145942, updated on 2-Nov-2024

Summary

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Official Symbol
TMCO5Aprovided by HGNC
Official Full Name
transmembrane and coiled-coil domains 5Aprovided by HGNC
Primary source
HGNC:HGNC:28558
See related
Ensembl:ENSG00000166069 AllianceGenome:HGNC:28558
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
TMCO5
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 13.4) See more
Orthologs
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Genomic context

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See TMCO5A in Genome Data Viewer
Location:
15q14
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (37934640..38040865)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (35739894..35846092)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38226841..38287237)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37842319-37842820 Neighboring gene ribosomal protein S15 pseudogene 8 Neighboring gene uncharacterized LOC105370773 Neighboring gene Sharpr-MPRA regulatory region 1314 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:38156188-38157387 Neighboring gene VISTA enhancer hs830 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:38364669-38365534 Neighboring gene long intergenic non-protein coding RNA 2345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6298 Neighboring gene long intergenic non-protein coding RNA 1852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9200 Neighboring gene Sharpr-MPRA regulatory region 4108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6304 Neighboring gene MPRA-validated peak2297 silencer Neighboring gene sprouty related EVH1 domain containing 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. A membrane protein, TMCO5A, has a close relationship with manchette microtubules in rat spermatids during spermiogenesis. Kaneko T, et al. Mol Reprod Dev, 2019 Mar. PMID 30632224
  2. Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles. Bauerschlag DO, et al. Oncology, 2011. PMID 21577013
  3. Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray. Lanktree MB, et al. Stroke, 2009 Oct. PMID 19679847
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Longer survival was associated with hypomethylation at specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation in other genes (e.g. TMCO5, PTPRN and GUCY2C).
    Title: Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray.
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

  • FLJ35807, MGC35118

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane and coiled-coil domain-containing protein 5A
Names
testicular tissue protein Li 205
transmembrane and coiled-coil domains 5

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.

Genomic

  1. NG_052635.2 RefSeqGene

    Range
    5002..21784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330255.2 → NP_001317184.1  transmembrane and coiled-coil domain-containing protein 5A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC091005, AK093126
    Consensus CDS
    CCDS81862.1
    UniProtKB/TrEMBL
    H0YL40
    Related
    ENSP00000454112.1, ENST00000559502.5
    Conserved Domains (1) summary
    pfam14992
    Location:15 → 223
    TMCO5; TMCO5 family

  2. NM_001370735.1 → NP_001357664.1  transmembrane and coiled-coil domain-containing protein 5A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC091005
    Consensus CDS
    CCDS10046.1
    UniProtKB/Swiss-Prot
    Q8N6Q1, Q8NA63
    UniProtKB/TrEMBL
    A0A024R9I9
    Conserved Domains (1) summary
    pfam14992
    Location:15 → 287
    TMCO5; TMCO5 family

  3. NM_001370736.1 → NP_001357665.1  transmembrane and coiled-coil domain-containing protein 5A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC091005
    Conserved Domains (1) summary
    pfam14992
    Location:29 → 301
    TMCO5; TMCO5 family

  4. NM_001370737.1 → NP_001357666.1  transmembrane and coiled-coil domain-containing protein 5A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC091005
    Conserved Domains (1) summary
    pfam14992
    Location:15 → 223
    TMCO5; TMCO5 family

  5. NM_152453.4 → NP_689666.2  transmembrane and coiled-coil domain-containing protein 5A isoform 1

    See identical proteins and their annotated locations for NP_689666.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC029221, BI561792, BI826726
    Consensus CDS
    CCDS10046.1
    UniProtKB/Swiss-Prot
    Q8N6Q1, Q8NA63
    UniProtKB/TrEMBL
    A0A024R9I9
    Related
    ENSP00000327234.4, ENST00000319669.5
    Conserved Domains (1) summary
    pfam14992
    Location:15 → 287
    TMCO5; TMCO5 family

RNA

  1. NR_163584.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC091005

  2. NR_163585.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC091005

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    37934640..38040865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432176.1 → XP_047288132.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

  2. XM_047432177.1 → XP_047288133.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

  3. XM_011521262.3 → XP_011519564.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

    Conserved Domains (1) summary
    pfam14992
    Location:15 → 223
    TMCO5; TMCO5 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    35739894..35846092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377338.1 → XP_054233313.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

  2. XM_054377339.1 → XP_054233314.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

  3. XM_054377340.1 → XP_054233315.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6Q1.2 GenPept UniProtKB/Swiss-Prot:Q8N6Q1

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