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

Gene ID: 51025, updated on 17-Jun-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
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Genomic context

See PAM16 in Genome Data Viewer
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)

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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_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)