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Protein

Mitochondrial import inner membrane translocase subunit TIM16

Gene

PAM16

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.1 Publication

GO - Biological processi

  • negative regulation of apoptotic DNA fragmentation Source: Ensembl
  • negative regulation of ATPase activity Source: GO_Central
  • negative regulation of release of cytochrome c from mitochondria Source: Ensembl
  • ossification Source: UniProtKB
  • protein import into mitochondrial matrix Source: GO_Central

Keywordsi

Biological processProtein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial import inner membrane translocase subunit TIM16
Alternative name(s):
Mitochondria-associated granulocyte macrophage CSF-signaling molecule
Presequence translocated-associated motor subunit PAM16
Gene namesi
Name:PAM16
Synonyms:MAGMAS, TIM16, TIMM16
ORF Names:CGI-136
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000217930.7
HGNCiHGNC:29679 PAM16
MIMi614336 gene
neXtProtiNX_Q9Y3D7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs.
See also OMIM:613320
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07341976N → D in SMDMDM. 1 PublicationCorresponds to variant dbSNP:rs786203989EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi62I → A, Q or W: Substantial loss of protein translocation into mitochondria in a heterologous system. 1 Publication1
Mutagenesisi85 – 87DKS → HPD: No effect on protein translocation into mitochondria in a heterologous system. 1 Publication3
Mutagenesisi92F → 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. 1 Publication1
Mutagenesisi93Y → 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. 1 Publication1
Mutagenesisi94L → A: No effect on protein translocation into mitochondria in a heterologous system. 1 Publication1
Mutagenesisi94L → 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. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi51025
MalaCardsiPAM16
MIMi613320 phenotype
OpenTargetsiENSG00000217930
Orphaneti401979 Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Polymorphism and mutation databases

BioMutaiPAM16
DMDMi23503082

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002140781 – 125Mitochondrial import inner membrane translocase subunit TIM16Add BLAST125

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei69PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y3D7
MaxQBiQ9Y3D7
PaxDbiQ9Y3D7
PeptideAtlasiQ9Y3D7
PRIDEiQ9Y3D7
ProteomicsDBi86023
TopDownProteomicsiQ9Y3D7

PTM databases

iPTMnetiQ9Y3D7
PhosphoSitePlusiQ9Y3D7

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Inductioni

By CSF2/GM-CSF.

Gene expression databases

BgeeiENSG00000217930 Expressed in 87 organ(s), highest expression level in liver
ExpressionAtlasiQ9Y3D7 baseline and differential
GenevisibleiQ9Y3D7 HS

Organism-specific databases

HPAiHPA062721

Interactioni

Subunit structurei

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.By similarity2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi119231, 39 interactors
IntActiQ9Y3D7, 14 interactors
MINTiQ9Y3D7
STRINGi9606.ENSP00000315693

Structurei

3D structure databases

ProteinModelPortaliQ9Y3D7
SMRiQ9Y3D7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni58 – 110J-likeAdd BLAST53

Domaini

The J-like region, although related to the J domain does not have co-chaperone activity.By similarity

Sequence similaritiesi

Belongs to the TIM16/PAM16 family.Curated

Phylogenomic databases

eggNOGiKOG3442 Eukaryota
ENOG411286G LUCA
GeneTreeiENSGT00760000119195
HOGENOMiHOG000180095
HOVERGENiHBG094040
InParanoidiQ9Y3D7
KOiK17805
PhylomeDBiQ9Y3D7
TreeFamiTF315134

Family and domain databases

Gene3Di1.10.287.110, 1 hit
InterProiView protein in InterPro
IPR036869 J_dom_sf
IPR005341 Tim16
PANTHERiPTHR12388 PTHR12388, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q9Y3D7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAKYLAQIIV MGVQVVGRAF ARALRQEFAA SRAAADARGR AGHRSAAASN
60 70 80 90 100
LSGLSLQEAQ QILNVSKLSP EEVQKNYEHL FKVNDKSVGG SFYLQSKVVR
110 120
AKERLDEELK IQAQEDREKG QMPHT
Length:125
Mass (Da):13,825
Last modified:September 19, 2002 - v2
Checksum:i5E7877B30CC89C61
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A6YYL4A0A0A6YYL4_HUMAN
Coronin
CORO7-PAM16 PAM16
1,048Annotation score:
I3L167I3L167_HUMAN
Coronin
CORO7-PAM16 hCG_2045878
535Annotation score:
I3L3T0I3L3T0_HUMAN
HCG15164, isoform CRA_b
PAM16 hCG_15164
145Annotation score:
I3L1U7I3L1U7_HUMAN
Mitochondrial import inner membrane...
PAM16
129Annotation score:
I3L0X9I3L0X9_HUMAN
Mitochondrial import inner membrane...
PAM16
137Annotation score:
A0A0B4J298A0A0B4J298_HUMAN
HCG15164, isoform CRA_a
PAM16 hCG_15164
61Annotation score:
I3L3G8I3L3G8_HUMAN
Mitochondrial import inner membrane...
PAM16
59Annotation score:
I3L1K9I3L1K9_HUMAN
Mitochondrial import inner membrane...
PAM16
94Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti120G → W in AAD34131 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07341976N → D in SMDMDM. 1 PublicationCorresponds to variant dbSNP:rs786203989EnsemblClinVar.1
Natural variantiVAR_013764114Q → K1 PublicationCorresponds to variant dbSNP:rs11989Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF349455 mRNA Translation: AAL57767.1
AF151894 mRNA Translation: AAD34131.1
AK026514 mRNA Translation: BAB15494.1
CR457362 mRNA Translation: CAG33643.1
BC005024 mRNA Translation: AAH05024.1
CCDSiCCDS10512.1
RefSeqiNP_057153.8, NM_016069.9
UniGeneiHs.730693

Genome annotation databases

EnsembliENST00000318059; ENSP00000315693; ENSG00000217930
ENST00000576217; ENSP00000461047; ENSG00000217930
ENST00000616009; ENSP00000484240; ENSG00000282228
ENST00000634045; ENSP00000487678; ENSG00000282228
GeneIDi51025
KEGGihsa:51025
UCSCiuc002cwd.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF349455 mRNA Translation: AAL57767.1
AF151894 mRNA Translation: AAD34131.1
AK026514 mRNA Translation: BAB15494.1
CR457362 mRNA Translation: CAG33643.1
BC005024 mRNA Translation: AAH05024.1
CCDSiCCDS10512.1
RefSeqiNP_057153.8, NM_016069.9
UniGeneiHs.730693

3D structure databases

ProteinModelPortaliQ9Y3D7
SMRiQ9Y3D7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119231, 39 interactors
IntActiQ9Y3D7, 14 interactors
MINTiQ9Y3D7
STRINGi9606.ENSP00000315693

PTM databases

iPTMnetiQ9Y3D7
PhosphoSitePlusiQ9Y3D7

Polymorphism and mutation databases

BioMutaiPAM16
DMDMi23503082

Proteomic databases

EPDiQ9Y3D7
MaxQBiQ9Y3D7
PaxDbiQ9Y3D7
PeptideAtlasiQ9Y3D7
PRIDEiQ9Y3D7
ProteomicsDBi86023
TopDownProteomicsiQ9Y3D7

Protocols and materials databases

DNASUi51025
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318059; ENSP00000315693; ENSG00000217930
ENST00000576217; ENSP00000461047; ENSG00000217930
ENST00000616009; ENSP00000484240; ENSG00000282228
ENST00000634045; ENSP00000487678; ENSG00000282228
GeneIDi51025
KEGGihsa:51025
UCSCiuc002cwd.4 human

Organism-specific databases

CTDi51025
DisGeNETi51025
EuPathDBiHostDB:ENSG00000217930.7
GeneCardsiPAM16
HGNCiHGNC:29679 PAM16
HPAiHPA062721
MalaCardsiPAM16
MIMi613320 phenotype
614336 gene
neXtProtiNX_Q9Y3D7
OpenTargetsiENSG00000217930
Orphaneti401979 Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3442 Eukaryota
ENOG411286G LUCA
GeneTreeiENSGT00760000119195
HOGENOMiHOG000180095
HOVERGENiHBG094040
InParanoidiQ9Y3D7
KOiK17805
PhylomeDBiQ9Y3D7
TreeFamiTF315134

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Miscellaneous databases

ChiTaRSiPAM16 human
GenomeRNAii51025
PROiPR:Q9Y3D7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000217930 Expressed in 87 organ(s), highest expression level in liver
ExpressionAtlasiQ9Y3D7 baseline and differential
GenevisibleiQ9Y3D7 HS

Family and domain databases

Gene3Di1.10.287.110, 1 hit
InterProiView protein in InterPro
IPR036869 J_dom_sf
IPR005341 Tim16
PANTHERiPTHR12388 PTHR12388, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTIM16_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3D7
Secondary accession number(s): Q6I9Z3, Q9H5X3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 19, 2002
Last modified: November 7, 2018
This is version 155 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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