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

Gene ID: 51025, updated on 15-Jun-2019

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
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

Genomic context

See PAM16 in Genome Data Viewer
Location:
16p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (4340249..4351399, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4390252..4401373, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transcription factor AP-4 Neighboring gene GLIS2 antisense RNA 1 Neighboring gene GLIS family zinc finger 2 Neighboring gene CORO7-PAM16 readthrough Neighboring gene coronin 7 Neighboring gene vasorin Neighboring gene DnaJ heat shock protein family (Hsp40) member A3

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough CORO7-PAM16

Readthrough gene: CORO7-PAM16, Included gene: CORO7

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic DNA fragmentation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into mitochondrial matrix IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
PAM complex, Tim23 associated import motor IGI
Inferred from Genetic Interaction
more info
PubMed 
TIM23 mitochondrial import inner membrane translocase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
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)

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
    4974..16124
    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
    Q9Y3D7
    Related
    ENSP00000315693.3, ENST00000318059.8
    Conserved Domains (1) summary
    pfam03656
    Location:1125
    Pam16; Pam16

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187608.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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