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Protein

Mitochondrial import inner membrane translocase subunit TIM16

Gene

PAM16

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • cellular protein metabolic process Source: Reactome
  • negative regulation of ATPase activity Source: GO_Central
  • ossification Source: UniProtKB
  • protein import into mitochondrial matrix Source: GO_Central
  • protein targeting to mitochondrion Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Protein 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

HGNCiHGNC:29679. PAM16.

Subcellular locationi

GO - Cellular componenti

  • extrinsic component of mitochondrial inner membrane Source: GO_Central
  • mitochondrial matrix Source: GO_Central
  • presequence translocase-associated import motor Source: GO_Central
  • protein complex Source: GO_Central
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761N → D in SMDMDM. 1 Publication
VAR_073419

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi62 – 621I → A, Q or W: Substantial loss of protein translocation into mitochondria in a heterologous system. 1 Publication
Mutagenesisi85 – 873DKS → HPD: No effect on protein translocation into mitochondria in a heterologous system. 1 Publication
Mutagenesisi92 – 921F → 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 Publication
Mutagenesisi93 – 931Y → 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 Publication
Mutagenesisi94 – 941L → A: No effect on protein translocation into mitochondria in a heterologous system. 1 Publication
Mutagenesisi94 – 941L → 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 Publication

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MalaCardsiPAM16.
MIMi613320. phenotype.
Orphaneti401979. Autosomal recessive spondylometaphyseal dysplasia, Megarbane type.

Polymorphism and mutation databases

BioMutaiPAM16.
DMDMi23503082.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 125125Mitochondrial import inner membrane translocase subunit TIM16PRO_0000214078Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei69 – 691PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y3D7.
MaxQBiQ9Y3D7.
PaxDbiQ9Y3D7.
PeptideAtlasiQ9Y3D7.
PRIDEiQ9Y3D7.
TopDownProteomicsiQ9Y3D7.

PTM databases

iPTMnetiQ9Y3D7.
PhosphoSiteiQ9Y3D7.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Inductioni

By CSF2/GM-CSF.

Gene expression databases

BgeeiQ9Y3D7.
ExpressionAtlasiQ9Y3D7. baseline and differential.
GenevisibleiQ9Y3D7. HS.

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

WithEntry#Exp.IntActNotes
ARL6IP1Q150413EBI-721147,EBI-714543

Protein-protein interaction databases

BioGridi119231. 26 interactions.
IntActiQ9Y3D7. 8 interactions.
MINTiMINT-1403487.
STRINGi9606.ENSP00000315693.

Structurei

3D structure databases

ProteinModelPortaliQ9Y3D7.
SMRiQ9Y3D7. Positions 54-109.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni58 – 11053J-likeAdd
BLAST

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.
GeneTreeiENSGT00390000012037.
HOGENOMiHOG000180095.
HOVERGENiHBG094040.
InParanoidiQ9Y3D7.
KOiK17805.
PhylomeDBiQ9Y3D7.
TreeFamiTF315134.

Family and domain databases

InterProiIPR005341. Tim16.
[Graphical view]
PANTHERiPTHR12388. PTHR12388. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti120 – 1201G → W in AAD34131 (PubMed:10810093).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761N → D in SMDMDM. 1 Publication
VAR_073419
Natural varianti114 – 1141Q → K.1 Publication
Corresponds to variant rs11989 [ dbSNP | Ensembl ].
VAR_013764

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

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. Positions 54-109.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119231. 26 interactions.
IntActiQ9Y3D7. 8 interactions.
MINTiMINT-1403487.
STRINGi9606.ENSP00000315693.

PTM databases

iPTMnetiQ9Y3D7.
PhosphoSiteiQ9Y3D7.

Polymorphism and mutation databases

BioMutaiPAM16.
DMDMi23503082.

Proteomic databases

EPDiQ9Y3D7.
MaxQBiQ9Y3D7.
PaxDbiQ9Y3D7.
PeptideAtlasiQ9Y3D7.
PRIDEiQ9Y3D7.
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.
GeneCardsiPAM16.
HGNCiHGNC:29679. PAM16.
MalaCardsiPAM16.
MIMi613320. phenotype.
614336. gene.
neXtProtiNX_Q9Y3D7.
Orphaneti401979. Autosomal recessive spondylometaphyseal dysplasia, Megarbane type.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3442. Eukaryota.
ENOG411286G. LUCA.
GeneTreeiENSGT00390000012037.
HOGENOMiHOG000180095.
HOVERGENiHBG094040.
InParanoidiQ9Y3D7.
KOiK17805.
PhylomeDBiQ9Y3D7.
TreeFamiTF315134.

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.

Miscellaneous databases

ChiTaRSiPAM16. human.
GenomeRNAii51025.
NextBioi53562.
PROiQ9Y3D7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y3D7.
ExpressionAtlasiQ9Y3D7. baseline and differential.
GenevisibleiQ9Y3D7. HS.

Family and domain databases

InterProiIPR005341. Tim16.
[Graphical view]
PANTHERiPTHR12388. PTHR12388. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction."
    Jubinsky P.T., Messer A., Bender J., Morris R.E., Ciraolo G.M., Witte D.P., Hawley R.G., Short M.K.
    Exp. Hematol. 29:1392-1402(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, VARIANT LYS-114.
    Tissue: Peripheral blood.
  2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  6. Cited for: TISSUE SPECIFICITY.
  7. "Role of Magmas in protein transport and human mitochondria biogenesis."
    Sinha D., Joshi N., Chittoor B., Samji P., D'Silva P.
    Hum. Mol. Genet. 19:1248-1262(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH DNAJC19, ASSOCIATION WITH THE TIM23 COMPLEX, SUBCELLULAR LOCATION, MUTAGENESIS OF ILE-62; 85-ASP--SER-87; PHE-92; TYR-93 AND LEU-94.
  8. "Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria."
    Schusdziarra C., Blamowska M., Azem A., Hell K.
    Hum. Mol. Genet. 22:1348-1357(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DNAJC15.
  9. Cited for: INVOLVEMENT IN SMDMDM, VARIANT SMDMDM ASP-76.

Entry informationi

Entry nameiTIM16_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3D7
Secondary accession number(s): Q6I9Z3, Q9H5X3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 19, 2002
Last modified: May 11, 2016
This is version 135 of the entry and version 2 of the sequence. [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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.