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Aliases for PAM16 Gene

Aliases for PAM16 Gene

  • Presequence Translocase Associated Motor 16 2 3 5
  • Mitochondria Associated Protein Involved In Granulocyte Macrophage Colony Stimulating Factor Signal Transduction 2 3
  • Mitochondria-Associated Granulocyte Macrophage CSF-Signaling Molecule 3 4
  • Presequence Translocase Associated Motor 16 Homolog 2 3
  • MAGMAS 3 4
  • TIMM16 3 4
  • TIM16 3 4
  • Presequence Translocase-Associated Motor 16 Homolog (S. Cerevisiae) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit TIM16 3
  • Presequence Translocated-Associated Motor Subunit PAM16 4
  • Magmas-Like Protein 3
  • CGI-136 3
  • SMDMDM 3

External Ids for PAM16 Gene

Previous GeneCards Identifiers for PAM16 Gene

  • GC16M004357
  • GC16M004381

Summaries for PAM16 Gene

Entrez Gene Summary for PAM16 Gene

  • 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]

GeneCards Summary for PAM16 Gene

PAM16 (Presequence Translocase Associated Motor 16) is a Protein Coding gene. Diseases associated with PAM16 include Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type and Acth-Secreting Pituitary Adenoma. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. An important paralog of this gene is CORO7-PAM16.

UniProtKB/Swiss-Prot for PAM16 Gene

  • Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.

Additional gene information for PAM16 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAM16 Gene

Genomics for PAM16 Gene

GeneHancer (GH) Regulatory Elements for PAM16 Gene

Promoters and enhancers for PAM16 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I004349 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 567.7 +4.4 4445 2.7 HDGF SMAD1 ARID4B SIN3A DMAP1 ZNF2 POLR2B GLIS2 E2F8 ELK1 PAM16 NMRAL1 HMOX2 MGRN1 ENSG00000280063 CORO7-PAM16
GH16I004353 Enhancer 0.4 FANTOM5 dbSUPER 563.2 +1.9 1940 0 PAM16 CORO7 ENSG00000280063 CORO7-PAM16
GH16I004313 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 13.6 +36.0 36041 12.3 HDGF CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 E2F8 ZNF207 ZNF500 ANKS3 ENSG00000261938 PAM16 ZSCAN32 VASN CREBBP ZNF174 CLUAP1 NMRAL1
GH16I004327 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 14 +27.1 27139 2.7 ELF3 PKNOX1 ZFP64 ARID4B ZNF48 ZSCAN9 RAD21 RARA YY1 GLIS2 GLIS2-AS1 PAM16 CORO7 ENSG00000262712 GLIS2
GH16I004343 Enhancer 1.4 Ensembl ENCODE dbSUPER 13.5 +9.3 9344 4.6 HDGF FOXA2 MLX ARID4B ZNF2 ZNF48 ETS1 YY1 TCF12 ATF7 PAM16 ENSG00000280063 ENSG00000262712 CORO7-PAM16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PAM16 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PAM16 Gene

Genomic Locations for PAM16 Gene
chr16:4,331,549-4,355,607
(GRCh38/hg38)
Size:
24,059 bases
Orientation:
Minus strand
chr16:4,381,550-4,405,608
(GRCh37/hg19)

Genomic View for PAM16 Gene

Genes around PAM16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAM16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAM16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAM16 Gene

Proteins for PAM16 Gene

  • Protein details for PAM16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3D7-TIM16_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit TIM16
    Protein Accession:
    Q9Y3D7
    Secondary Accessions:
    • Q6I9Z3
    • Q9H5X3

    Protein attributes for PAM16 Gene

    Size:
    125 amino acids
    Molecular mass:
    13825 Da
    Quaternary structure:
    • Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity). Interacts with DNAJC19. Directly interacts with DNAJC15; this interaction counteracts DNAJC15-dependent stimulation of HSPA9 ATPase activity. Associates with the TIM23 complex.

neXtProt entry for PAM16 Gene

Post-translational modifications for PAM16 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PAM16 Gene

Domains & Families for PAM16 Gene

Gene Families for PAM16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PAM16 Gene

Suggested Antigen Peptide Sequences for PAM16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3D7

UniProtKB/Swiss-Prot:

TIM16_HUMAN :
  • The J-like region, although related to the J domain does not have co-chaperone activity.
  • Belongs to the TIM16/PAM16 family.
Domain:
  • The J-like region, although related to the J domain does not have co-chaperone activity.
Family:
  • Belongs to the TIM16/PAM16 family.
genes like me logo Genes that share domains with PAM16: view

Function for PAM16 Gene

Molecular function for PAM16 Gene

UniProtKB/Swiss-Prot Function:
Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.
UniProtKB/Swiss-Prot Induction:
By CSF2/GM-CSF.

Phenotypes From GWAS Catalog for PAM16 Gene

Gene Ontology (GO) - Molecular Function for PAM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19564938
genes like me logo Genes that share ontologies with PAM16: view

Phenotypes for PAM16 Gene

MGI mutant phenotypes for PAM16:
inferred from 1 alleles
GenomeRNAi human phenotypes for PAM16:
genes like me logo Genes that share phenotypes with PAM16: view

Human Phenotype Ontology for PAM16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAM16 Gene

MGI Knock Outs for PAM16:

Animal Model Products

CRISPR Products

miRNA for PAM16 Gene

miRTarBase miRNAs that target PAM16

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PAM16 Gene

Localization for PAM16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAM16 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAM16 gene
Compartment Confidence
mitochondrion 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Microtubules (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001405 presequence translocase-associated import motor IGI 20053669
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005744 mitochondrial inner membrane presequence translocase complex IEA --
GO:0005759 mitochondrial matrix IDA 20053669
genes like me logo Genes that share ontologies with PAM16: view

Pathways & Interactions for PAM16 Gene

genes like me logo Genes that share pathways with PAM16: view

Pathways by source for PAM16 Gene

2 Reactome pathways for PAM16 Gene

Gene Ontology (GO) - Biological Process for PAM16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 24786642
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IGI 20053669
GO:0032780 negative regulation of ATPase activity IDA 19564938
genes like me logo Genes that share ontologies with PAM16: view

No data available for SIGNOR curated interactions for PAM16 Gene

Drugs & Compounds for PAM16 Gene

No Compound Related Data Available

Transcripts for PAM16 Gene

Unigene Clusters for PAM16 Gene

Presequence translocase-associated motor 16 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAM16 Gene

No ASD Table

Relevant External Links for PAM16 Gene

GeneLoc Exon Structure for
PAM16
ECgene alternative splicing isoforms for
PAM16

Expression for PAM16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAM16 Gene

Protein differential expression in normal tissues from HIPED for PAM16 Gene

This gene is overexpressed in Bone (8.8) and Breast (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAM16 Gene



Protein tissue co-expression partners for PAM16 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAM16 Gene:

PAM16

SOURCE GeneReport for Unigene cluster for PAM16 Gene:

Hs.730693

mRNA Expression by UniProt/SwissProt for PAM16 Gene:

Q9Y3D7-TIM16_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for PAM16 Gene

  • Blood(4.3)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAM16 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PAM16: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PAM16 Gene

Orthologs for PAM16 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PAM16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAM16 33 34
  • 99.47 (n)
mouse
(Mus musculus)
Mammalia Gm9803 34
  • 96 (a)
OneToMany
Pam16 33 16 34
  • 88.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAM16 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAM16 33 34
  • 89.6 (n)
dog
(Canis familiaris)
Mammalia PAM16 33 34
  • 89.33 (n)
oppossum
(Monodelphis domestica)
Mammalia PAM16 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pam16 33
  • 88.53 (n)
chicken
(Gallus gallus)
Aves PAM16 33 34
  • 76.53 (n)
lizard
(Anolis carolinensis)
Reptilia PAM16 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pam16 33
  • 73.87 (n)
Str.19906 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13602 33
zebrafish
(Danio rerio)
Actinopterygii pam16 33 34
  • 71.88 (n)
zgc73356 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1411 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013212 33
  • 65.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta blp 33 34
  • 61.31 (n)
CG1409 34
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F45G2.8 33 34
  • 52.38 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAM16 34 36
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.831 34
  • 55 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4672 33
Species where no ortholog for PAM16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAM16 Gene

ENSEMBL:
Gene Tree for PAM16 (if available)
TreeFam:
Gene Tree for PAM16 (if available)

Paralogs for PAM16 Gene

Paralogs for PAM16 Gene

(9) SIMAP similar genes for PAM16 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PAM16: view

Variants for PAM16 Gene

Sequence variations from dbSNP and Humsavar for PAM16 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs786203989 pathogenic, Spondylometaphyseal dysplasia, megarbane-dagher-melki type, Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) [MIM:613320] 4,340,985(-) T/C coding_sequence_variant, missense_variant
rs1000072235 -- 4,344,003(-) C/T intron_variant
rs1000088603 -- 4,348,904(-) A/G intron_variant
rs1000145224 -- 4,349,075(-) C/T intron_variant
rs1000159135 -- 4,340,000(-) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PAM16 Gene

Variant ID Type Subtype PubMed ID
nsv571301 CNV gain+loss 21841781
nsv571274 CNV gain 21841781
nsv527866 CNV loss 19592680
nsv471075 CNV loss 18288195
nsv1046986 CNV gain 25217958
nsv103783 CNV deletion 16902084
esv3637695 CNV loss 21293372
esv3584924 CNV gain 24956385
esv3335033 CNV duplication 20981092
esv2667108 CNV deletion 23128226
esv23732 CNV gain 19812545
esv1548790 CNV insertion 17803354
esv1211300 CNV insertion 17803354

Variation tolerance for PAM16 Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.77; 78.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAM16 Gene

Human Gene Mutation Database (HGMD)
PAM16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAM16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAM16 Gene

Disorders for PAM16 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PAM16 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
spondylometaphyseal dysplasia, megarbane-dagher-melki type
  • smdmdm
acth-secreting pituitary adenoma
  • acth-producing pituitary adenoma
- elite association - COSMIC cancer census association via MalaCards
Search PAM16 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TIM16_HUMAN
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) [MIM:613320]: An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs. {ECO:0000269 PubMed:24786642}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PAM16

genes like me logo Genes that share disorders with PAM16: view

No data available for Genatlas for PAM16 Gene

Publications for PAM16 Gene

  1. Role of Magmas in protein transport and human mitochondria biogenesis. (PMID: 20053669) Sinha D … D'Silva P (Human molecular genetics 2010) 2 3 4 22 58
  2. Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction. (PMID: 11750097) Jubinsky PT … Short MK (Experimental hematology 2001) 2 3 4 22 58
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
  4. The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. (PMID: 24786642) Mehawej C … Mégarbané A (PLoS genetics 2014) 3 4 58
  5. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. (PMID: 23263864) Schusdziarra C … Hell K (Human molecular genetics 2013) 3 4 58

Products for PAM16 Gene

Sources for PAM16 Gene

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