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    TMA7 translation machinery associated 7 homolog [ Homo sapiens (human) ]

    Gene ID: 51372, updated on 5-May-2024

    Summary

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    Official Symbol
    TMA7provided by HGNC
    Official Full Name
    translation machinery associated 7 homologprovided by HGNC
    Primary source
    HGNC:HGNC:26932
    See related
    Ensembl:ENSG00000232112 MIM:615808; AllianceGenome:HGNC:26932
    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
    CCDC72; HSPC016
    Summary
    Predicted to be involved in cytoplasmic translation. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 126.7), bone marrow (RPKM 115.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMA7 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48440257..48444208)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48468270..48472220)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48481667..48485616)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 12 Neighboring gene RNA, 7SL, cytoplasmic 321, pseudogene Neighboring gene plexin B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48471449-48472442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:48473797-48474996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48476193-48477035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14330 Neighboring gene coiled-coil domain containing 51 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14331 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene ATR interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48507557-48508438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48508439-48509318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48509460-48510226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48513959-48514818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19833 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48515680-48516539 Neighboring gene three prime repair exonuclease 1 Neighboring gene shisa family member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48542139-48542692

    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. Effect of HSPC016 gene expression on the aggregative growth of dermal papillae cells. Song Z, et al. Australas J Dermatol, 2012 May. PMID 22571579
    2. Identification of differentially expressed genes HSPC016 in dermal papilla cells with aggregative behavior. Zhiqiang S, et al. Arch Dermatol Res, 2005 Sep. PMID 16096800
    3. Apoptosis of the dermal papilla cells of hair follicle associated with the expression of gene HSPCO16 in vitro. Yang WB, et al. Exp Dermatol, 2005 Mar. PMID 15740594
    4. Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. Li Q, et al. Tumour Biol, 2016 Sep. PMID 27337956
    5. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. Teixeira FR, et al. J Biol Chem, 2013 Sep 27. PMID 23940030, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dermal papillae cells (DPC) lose aggregate behavior and grow much slower after HSPC016 gene inhibition. Recombinant HSPC016 protein promoted the proliferation of high-passage DPC and induced aggregative behaviour.
      Title: Effect of HSPC016 gene expression on the aggregative growth of dermal papillae cells.
    2. HSPC016 was was differentially expressed in dermal papilla cells with aggregative behavior.
      Title: Identification of differentially expressed genes HSPC016 in dermal papilla cells with aggregative behavior.
    3. Expression of gene HSPCO16 resulted in the apoptosis of these cells, which suggested that the apoptosis of dermal papilla cells might be associated with the expression of gene HSPC016 in vitro.
      Title: Apoptosis of the dermal papilla cells of hair follicle associated with the expression of gene HSPCO16 in vitro.
    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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    Markers

    Homology

    General protein information

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    Preferred Names
    translation machinery-associated protein 7
    Names
    coiled-coil domain containing 72
    coiled-coil domain-containing protein 72
    translational machinery associated 7 homolog

    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_001329417.2 → NP_001316346.1  translation machinery-associated protein 7 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end of the coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.
      Source sequence(s)
      AA149268, AI339191, BU536461

    2. NM_015933.6 → NP_057017.1  translation machinery-associated protein 7 isoform 1

      See identical proteins and their annotated locations for NP_057017.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA149268, BU536461
      Consensus CDS
      CCDS46823.1
      UniProtKB/Swiss-Prot
      Q9P052, Q9Y2S6
      Related
      ENSP00000397843.2, ENST00000438607.2
      Conserved Domains (1) summary
      pfam09072
      Location:3 → 64
      TMA7; Translation machinery associated TMA7

    RNA

    1. NR_137639.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AA149268, AL712164, BU536461

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48440257..48444208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48468270..48472220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2S6.1 GenPept UniProtKB/Swiss-Prot:Q9Y2S6

    Gene LinkOut

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

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