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    PAM16 presequence translocase associated motor 16 [ Homo sapiens (human) ]

    Gene ID: 51025, updated on 5-Mar-2024

    Summary

    Official Symbol
    PAM16provided by HGNC
    Official Full Name
    presequence translocase associated motor 16provided by HGNC
    Primary source
    HGNC:HGNC:29679
    See related
    Ensembl:ENSG00000217930 MIM:614336; AllianceGenome:HGNC:29679
    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
    TIM16; MAGMAS; SMDMDM; TIMM16; CGI-136
    Summary
    This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in testis (RPKM 9.8), adrenal (RPKM 6.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    16p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4340251..4351321, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4367543..4380493, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4390252..4401322, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4314566-4315209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4315210-4315854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4321241-4322217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4323195-4324170 Neighboring gene transcription factor AP-4 Neighboring gene Sharpr-MPRA regulatory region 12742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4336703-4337204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4337205-4337704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4340142-4340760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4344437-4345096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4346736-4347609 Neighboring gene Sharpr-MPRA regulatory region 643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4355312-4355824 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4362415-4362646 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4364183-4364695 and GRCh37_chr16:4364696-4365208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4367330-4367980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4367981-4368630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4372394-4373179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4374751-4375535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4378569-4379569 Neighboring gene GLIS family zinc finger 2 Neighboring gene GLIS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4389543-4390289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4390290-4391035 Neighboring gene CORO7-PAM16 readthrough Neighboring gene MPRA-validated peak2471 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4397350-4397850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4415328-4415828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4419155-4419654 Neighboring gene coronin 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4421231-4422056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4424664-4425443 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4425537-4426318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4426319-4427098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4428659-4429440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4433428-4434269 Neighboring gene vasorin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4440665-4441216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4441217-4441770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4452006-4452742 Neighboring gene uncharacterized LOC124903635

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough CORO7-PAM16

    Readthrough gene: CORO7-PAM16, Included gene: CORO7

    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 intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein import into mitochondrial matrix IGI
    Inferred from Genetic Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial import inner membrane translocase subunit TIM16
    Names
    magmas-like protein
    mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction
    mitochondria-associated granulocyte macrophage CSF-signaling molecule
    presequence translocase associated motor 16 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_054893.1 RefSeqGene

      Range
      5052..16122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016069.11NP_057153.8  mitochondrial import inner membrane translocase subunit TIM16

      See identical proteins and their annotated locations for NP_057153.8

      Status: REVIEWED

      Source sequence(s)
      AK026514, BG715429
      Consensus CDS
      CCDS10512.1
      UniProtKB/Swiss-Prot
      Q6I9Z3, Q9H5X3, Q9Y3D7
      UniProtKB/TrEMBL
      I3L0X9
      Related
      ENSP00000315693.3, ENST00000318059.8
      Conserved Domains (1) summary
      pfam03656
      Location:1125
      Pam16

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4340251..4351321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187608.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      40615..53645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4367543..4380493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)