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    MRPL35 mitochondrial ribosomal protein L35 [ Homo sapiens (human) ]

    Gene ID: 51318, updated on 7-Apr-2024

    Summary

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    Official Symbol
    MRPL35provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L35provided by HGNC
    Primary source
    HGNC:HGNC:14489
    See related
    Ensembl:ENSG00000132313 MIM:611841; AllianceGenome:HGNC:14489
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    L35mt; bL35m; MRP-L35
    Summary
    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 19.0), colon (RPKM 15.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (86199433..86213794)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (86201527..86224659)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86426556..86440917)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene pentatricopeptide repeat domain 3 Neighboring gene Sharpr-MPRA regulatory region 1812 Neighboring gene MPRA-validated peak3777 silencer Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene inner membrane mitochondrial protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16158 Neighboring gene microRNA 4779 Neighboring gene Sharpr-MPRA regulatory region 10968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:86457835-86458493 Neighboring gene Sharpr-MPRA regulatory region 10790 Neighboring gene receptor accessory protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86487052-86487642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86551277-86551778 Neighboring gene U8 small nucleolar RNA

    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. MRPL35 Is Up-Regulated in Colorectal Cancer and Regulates Colorectal Cancer Cell Growth and Apoptosis. Zhang L, et al. Am J Pathol, 2019 May. PMID 30862482
    2. [IMAGE: molecular integration of the analysis of the human genome and its expression]. Auffray C, et al. C R Acad Sci III, 1995 Feb. PMID 7757816
    3. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
    5. Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy. Kojima W, et al. Autophagy, 2021 Aug. PMID 33499712, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of MRPL35 promotes cell apoptosis and inhibits cell proliferation in non-small-cell lung cancer.
      Title: Knockdown of MRPL35 promotes cell apoptosis and inhibits cell proliferation in non-small-cell lung cancer.
    2. High MRPL35 expression Cooperate in Colorectal Cancer.
      Title: MRPL35 Is Up-Regulated in Colorectal Cancer and Regulates Colorectal Cancer Cell Growth and Apoptosis.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein bL35m
    Names
    39S ribosomal protein L35, mitochondrial
    mitochondrial large ribosomal subunit protein bL35m

    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_001363782.1 → NP_001350711.1  large ribosomal subunit protein bL35m isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a distinct 3' coding region and 3' UTR compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus when compared to isoform a.
      Source sequence(s)
      AC009309
      Consensus CDS
      CCDS86858.1
      UniProtKB/TrEMBL
      D3YTC1
      Related
      ENSP00000386255.1, ENST00000409180.1
      Conserved Domains (1) summary
      pfam01632
      Location:102 → 161
      Ribosomal_L35p; Ribosomal protein L35

    2. NM_016622.4 → NP_057706.2  large ribosomal subunit protein bL35m isoform a

      See identical proteins and their annotated locations for NP_057706.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and encodes isoform a.
      Source sequence(s)
      AC009309, AL832982, BG108475, BQ421154, BQ879834, BU195549, DA443416, DB245340, F11007, H11039
      Consensus CDS
      CCDS1988.1
      UniProtKB/Swiss-Prot
      A6NKV6, B2RB93, Q658U7, Q8WWA2, Q9NZE8
      Related
      ENSP00000338389.4, ENST00000337109.9
      Conserved Domains (1) summary
      pfam01632
      Location:102 → 161
      Ribosomal_L35p; Ribosomal protein L35

    3. NM_145644.3 → NP_663619.1  large ribosomal subunit protein bL35m isoform b

      See identical proteins and their annotated locations for NP_663619.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment, compared to variant 1, that causes a frameshift and a shorter 3' UTR. The resulting isoform (b) has a shorter C-terminus when compared to isoform a.
      Source sequence(s)
      AK314577, AL832982, BC020651, BU195549, DA413384, F11007, H11039
      Consensus CDS
      CCDS1987.1
      UniProtKB/Swiss-Prot
      Q9NZE8
      Related
      ENSP00000254644.7, ENST00000254644.12
      Conserved Domains (1) summary
      pfam01632
      Location:102 → 161
      Ribosomal_L35p; Ribosomal protein L35

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      86199433..86213794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      86201527..86224659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342459.1 → XP_054198434.1  large ribosomal subunit protein bL35m isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZE8.3 GenPept UniProtKB/Swiss-Prot:Q9NZE8

    Gene LinkOut

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

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