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    MTNAP1 mitochondrial nucleoid associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 55028, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTNAP1provided by HGNC
    Official Full Name
    mitochondrial nucleoid associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29601
    See related
    Ensembl:ENSG00000141219 MIM:620717; AllianceGenome:HGNC:29601
    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
    MIG3; HLC-8; SPEP1; C17orf80
    Summary
    Predicted to be involved in cell population proliferation; mitochondrial DNA metabolic process; and positive regulation of mitochondrial DNA replication. Located in mitochondrial nucleoid. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.0), thyroid (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTNAP1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (73232433..73248959)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (74122159..74138687)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (71228572..71245098)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8920 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:71166424-71167002 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:71188421-71189180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8921 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:71195948-71197147 Neighboring gene Sharpr-MPRA regulatory region 2581 Neighboring gene somatostatin receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:71227250-71228026 Neighboring gene component of oligomeric golgi complex 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12692 Neighboring gene VCP nuclear cofactor family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12694 Neighboring gene cleavage and polyadenylation specific factor 4 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71280886-71281442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71281998-71282553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71282554-71283108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12695 Neighboring gene Sharpr-MPRA regulatory region 4436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71287907-71288788 Neighboring gene CDC42 effector protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71314086-71314838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71332871-71333770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71343461-71344310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71348097-71348598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71348599-71349098 Neighboring gene Sharpr-MPRA regulatory region 1327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71357197-71357868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71359686-71360661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71361126-71361628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71375179-71375680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71376731-71377230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71376229-71376730 Neighboring gene sidekick cell adhesion molecule 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71396825-71397329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71397330-71397833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71434193-71434693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12699 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71487500-71488358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71488359-71489217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71501870-71502807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71503745-71504682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71507033-71507902 Neighboring gene uncharacterized LOC101928251

    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. Uncharacterized protein C17orf80 - a novel interactor of human mitochondrial nucleoids. Potter A, et al. J Cell Sci, 2023 Aug 1. PMID 37401363, Free PMC Article
    2. C17orf80 binds the mitochondrial genome to promote its replication. Wu H, et al. J Cell Biol, 2023 Oct 2. PMID 37676315, Free PMC Article
    3. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    4. Variability in Streptavidin-Sepharose Matrix Quality Can Significantly Affect Proximity-Dependent Biotinylation (BioID) Data. St-Germain JR, et al. J Proteome Res, 2020 Aug 7. PMID 32628020
    5. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C17orf80 binds the mitochondrial genome to promote its replication.
      Title: C17orf80 binds the mitochondrial genome to promote its replication.
    2. Uncharacterized protein C17orf80 - a novel interactor of human mitochondrial nucleoids.
      Title: Uncharacterized protein C17orf80 - a novel interactor of human mitochondrial nucleoids.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20721

    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 extracellular exosome HDA PubMed 
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial nucleoid-associated protein 1
    Names
    cell migration-inducing gene 3 protein
    human lung cancer oncogene 8 protein
    lung cancer-related protein 8
    sperm-expressed protein 1
    uncharacterized protein C17orf80

    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_054938.2 RefSeqGene

      Range
      5002..21528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001100621.3 → NP_001094091.2  mitochondrial nucleoid-associated protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 2 and 4 encode the same isoform (b), which is shorter than isoform a.
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS42377.1
      UniProtKB/TrEMBL
      B7Z7E5
      Related
      ENSP00000268942.8, ENST00000268942.12

    2. NM_001100622.4 → NP_001094092.2  mitochondrial nucleoid-associated protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform c, which is shorter and has a distinct C-terminus, compared to isoform a. Variants 3 and 9 both encode the same isoform (c).
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS45767.1
      UniProtKB/TrEMBL
      B7Z7E5
      Related
      ENSP00000396970.2, ENST00000426147.6

    3. NM_001288770.3 → NP_001275699.2  mitochondrial nucleoid-associated protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 2, 4 and 8 encode the same isoform (b), which is shorter than isoform a.
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS42377.1
      UniProtKB/TrEMBL
      B7Z7E5
      Related
      ENSP00000464132.1, ENST00000577615.5

    4. NM_001288771.3 → NP_001275700.2  mitochondrial nucleoid-associated protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate exon in the 3' coding region and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform d, which is shorter and has a distinct C-terminus, compared to isoform a. Variants 5 and 10 both encode the same isoform (d).
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS74145.1
      UniProtKB/TrEMBL
      B7Z7E5, I3L072
      Related
      ENSP00000255557.4, ENST00000255557.8

    5. NM_001351264.2 → NP_001338193.2  mitochondrial nucleoid-associated protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Both variants 1 and 7 encode the same isoform (a).
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS11694.1
      UniProtKB/Swiss-Prot
      A8K9X3, Q5JB45, Q6YAU3, Q9BSJ5, Q9H0L9, Q9H5E6, Q9NWN5
      UniProtKB/TrEMBL
      B7Z7E5
      Related
      ENSP00000440551.2, ENST00000535032.7

    6. NM_001351265.2 → NP_001338194.2  mitochondrial nucleoid-associated protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Variants 2, 4 and 8 encode the same isoform (b), which is shorter than isoform a.
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS42377.1
      UniProtKB/TrEMBL
      B7Z7E5

    7. NM_001386978.1 → NP_001373907.1  mitochondrial nucleoid-associated protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 3, encodes isoform c.
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS45767.1
      UniProtKB/TrEMBL
      B7Z7E5

    8. NM_001386979.1 → NP_001373908.1  mitochondrial nucleoid-associated protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 5, encodes isoform d.
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS74145.1
      UniProtKB/TrEMBL
      B7Z7E5, I3L072

    9. NM_001386983.1 → NP_001373912.1  mitochondrial nucleoid-associated protein 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variant 12, encodes isoform e.
      Source sequence(s)
      AC087301, AC097641
      UniProtKB/TrEMBL
      B7Z7E5

    10. NM_001386986.1 → NP_001373915.1  mitochondrial nucleoid-associated protein 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 11, encodes isoform e.
      Source sequence(s)
      AC087301, AC097641
      UniProtKB/TrEMBL
      B7Z7E5

    11. NM_017941.6 → NP_060411.3  mitochondrial nucleoid-associated protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC087301, AC097641
      Consensus CDS
      CCDS11694.1
      UniProtKB/Swiss-Prot
      A8K9X3, Q5JB45, Q6YAU3, Q9BSJ5, Q9H0L9, Q9H5E6, Q9NWN5
      UniProtKB/TrEMBL
      B7Z7E5
      Related
      ENSP00000351937.2, ENST00000359042.6

    RNA

    1. NR_110105.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AY163812, AY239293, BG754800, BU736238, BU788930, DT220543

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      73232433..73248959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524961.2 → XP_011523263.1  mitochondrial nucleoid-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011523263.1

      UniProtKB/Swiss-Prot
      A8K9X3, Q5JB45, Q6YAU3, Q9BSJ5, Q9H0L9, Q9H5E6, Q9NWN5
      UniProtKB/TrEMBL
      B7Z7E5

    2. XM_047436337.1 → XP_047292293.1  mitochondrial nucleoid-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K9X3, Q5JB45, Q6YAU3, Q9BSJ5, Q9H0L9, Q9H5E6, Q9NWN5
      UniProtKB/TrEMBL
      B7Z7E5

    3. XM_011524962.3 → XP_011523264.1  mitochondrial nucleoid-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011523264.1

      UniProtKB/Swiss-Prot
      A8K9X3, Q5JB45, Q6YAU3, Q9BSJ5, Q9H0L9, Q9H5E6, Q9NWN5
      UniProtKB/TrEMBL
      B7Z7E5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      74122159..74138687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316591.1 → XP_054172566.1  mitochondrial nucleoid-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z7E5

    2. XM_054316592.1 → XP_054172567.1  mitochondrial nucleoid-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z7E5

    3. XM_054316593.1 → XP_054172568.1  mitochondrial nucleoid-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z7E5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSJ5.2 GenPept UniProtKB/Swiss-Prot:Q9BSJ5

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