PAM16
entrez
51025
canonical
uniprot
Q9Y3D7
canonical
ensembl
ENSG00000217930
resolver
ensembl
ENSG00000282228
resolver
ensp
ENSP00000315693
resolver
ensp
ENSP00000461047
resolver
ensp
ENSP00000484240
resolver
ensp
ENSP00000487678
resolver
enst
ENST00000318059
resolver
enst
ENST00000576217
resolver
enst
ENST00000616009
resolver
enst
ENST00000634045
resolver
genesymbol
PAM16
resolver
genesymbol_syn
MAGMAS
resolver
genesymbol_syn
TIM16
resolver
genesymbol_syn
TIMM16
resolver
hgnc
HGNC:29679
resolver
uniprot
Q6I9Z3
resolver
uniprot
Q9H5X3
resolver
uniprot_entry
TIM16_HUMAN
resolver
uniprot_sec
Q6I9Z3
resolver
uniprot_sec
Q9H5X3
resolver
amino_acid_sequence
MAKYLAQIIVMGVQVVGRAFARALRQEFAASRAAADARGRAGHRSAAASNLSGLSLQEAQQILNVSKLSPEEVQKNYEHLFKVNDKSVGGSFYLQSKVVRAKERLDEELKIQAQEDREKGQMPHT
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity. {ECO:0000269|PubMed:20053669}.
uniprot
proteins
mass_dalton
13825
uniprot
proteins
mutagenesis
MUTAGEN 62; /note="I->A,Q,W: Substantial loss of protein translocation into mitochondria in a heterologous system."; /evidence="ECO:0000269|PubMed:20053669"; MUTAGEN 85..87; /note="DKS->HPD: No effect on protein translocation into mitochondria in a heterologous system."; /evidence="ECO:0000269|PubMed:20053669"; MUTAGEN 92; /note="F->G: Partial loss of protein translocation into mitochondria in a heterologous system. Substantial loss of protein translocation into mitochondria in a heterologous system; when associated with G-93. Partial loss of DNAJC19-binding. Loss of DNAJC19-binding; when associated with G-93. Partial loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity. Complete loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity; when associated with G-93."; /evidence="ECO:0000269|PubMed:20053669"; MUTAGEN 93; /note="Y->G: Partial loss of protein translocation into mitochondria in a heterologous system. Substantial loss of protein translocation into mitochondria in a heterologous system; when associated with G-92. Loss of DNAJC19-binding; when associated with G-92. Complete loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity; when associated with G-92."; /evidence="ECO:0000269|PubMed:20053669"; MUTAGEN 94; /note="L->A: No effect on protein translocation into mitochondria in a heterologous system."; /evidence="ECO:0000269|PubMed:20053669"; MUTAGEN 94; /note="L->Q: Substantial loss of protein translocation into mitochondria in a heterologous system. Substantial loss of DNAJC19-binding. Partial loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity."; /evidence="ECO:0000269|PubMed:20053669
uniprot
proteins
protein_family
TIM16/PAM16 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11750097
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15704001
uniprot
proteins
pubmed
20053669
uniprot
proteins
pubmed
23263864
uniprot
proteins
pubmed
24786642
uniprot
proteins
sequence_length
125
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11750097, ECO:0000269|PubMed:20053669}; Peripheral membrane protein {ECO:0000269|PubMed:11750097, ECO:0000269|PubMed:20053669}; Matrix side {ECO:0000269|PubMed:11750097, ECO:0000269|PubMed:20053669}.
uniprot
proteins