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

Gene ID: 55028, updated on 14-Apr-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
Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 11.0), thyroid (RPKM 5.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q25.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (73232433..73248959)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (74122159..74138687)
105.20220307 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. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
  3. 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
  4. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661
  5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

See all (26) 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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 

General protein information

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

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_2023_10

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  uncharacterized protein C17orf80 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  uncharacterized protein C17orf80 isoform X1

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

  3. XM_011524962.3 → XP_011523264.1  uncharacterized protein C17orf80 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  uncharacterized protein C17orf80 isoform X1

  2. XM_054316592.1 → XP_054172567.1  uncharacterized protein C17orf80 isoform X1

  3. XM_054316593.1 → XP_054172568.1  uncharacterized protein C17orf80 isoform X1

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

Gene LinkOut

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