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    SMIM20 small integral membrane protein 20 [ Homo sapiens (human) ]

    Gene ID: 389203, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMIM20provided by HGNC
    Official Full Name
    small integral membrane protein 20provided by HGNC
    Primary source
    HGNC:HGNC:37260
    See related
    Ensembl:ENSG00000250317 MIM:617465; AllianceGenome:HGNC:37260
    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
    PNX; C4orf52; MITRAC7
    Summary
    Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 18.0), duodenum (RPKM 16.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM20 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (25914220..25929812)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (25896311..25911902)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (25915842..25931434)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723733 Neighboring gene uncharacterized LOC124900688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21380 Neighboring gene uncharacterized LOC105374538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:25915129-25915678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21383 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:25994521-25995044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15330 Neighboring gene uncharacterized LOC124900689 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26031006-26031587 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:26031588-26032170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21384 Neighboring gene long intergenic non-protein coding RNA 2357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21387

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MITRAC7 affects the biogenesis pathway by stabilizing newly synthesized COX1 in assembly intermediates, concomitantly preventing turnover.
      Title: MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.
    2. SMIM20 (MITRAC7) is a COX1 specific chaperone which is necessary for cytochrome c oxidase biogenesis.
      Title: MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.
    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 Variation Viewer (GRCh37.p13)

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial cytochrome c oxidase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial cytochrome c oxidase assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    small integral membrane protein 20
    Names
    mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa
    phoenixin

    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_001145432.3 → NP_001138904.1  small integral membrane protein 20 isoform 1

      See identical proteins and their annotated locations for NP_001138904.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC133961
      Consensus CDS
      CCDS47038.1
      UniProtKB/Swiss-Prot
      C9JYT8, Q8N5G0, Q9BRT5
      Related
      ENSP00000427407.2, ENST00000506197.3
      Conserved Domains (1) summary
      pfam15061
      Location:2 → 57
      DUF4538; Domain of unknown function (DUF4538)

    2. NM_001394130.1 → NP_001381059.1  small integral membrane protein 20 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC133961
      Consensus CDS
      CCDS93489.1
      UniProtKB/TrEMBL
      E5RH91
      Related
      ENSP00000429820.1, ENST00000514384.1
      Conserved Domains (1) summary
      pfam15061
      Location:2 → 37
      DUF4538; Domain of unknown function (DUF4538)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      25914220..25929812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      25896311..25911902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5G0.3 GenPept UniProtKB/Swiss-Prot:Q8N5G0

    Gene LinkOut

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

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