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

Gene ID: 51372, updated on 5-Mar-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
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Genomic context

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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

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