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Protein

Apoptosis-inducing factor 3

Gene

AIFM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi109 – 1091Iron-sulfur (2Fe-2S)PROSITE-ProRule annotation
Metal bindingi111 – 1111Iron-sulfur (2Fe-2S); via pros nitrogenPROSITE-ProRule annotation
Metal bindingi128 – 1281Iron-sulfur (2Fe-2S)PROSITE-ProRule annotation
Metal bindingi131 – 1311Iron-sulfur (2Fe-2S); via pros nitrogenPROSITE-ProRule annotation
Binding sitei235 – 2351FADSequence analysis
Binding sitei240 – 2401FADSequence analysis
Binding sitei270 – 2701FAD; via amide nitrogen and carbonyl oxygenSequence analysis
Binding sitei467 – 4671FADSequence analysis
Binding sitei514 – 5141FAD; via carbonyl oxygenSequence analysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi201 – 2055FADSequence analysis

GO - Molecular functioni

GO - Biological processi

  • cell redox homeostasis Source: InterPro
  • execution phase of apoptosis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Apoptosis, Electron transport, Transport

Keywords - Ligandi

2Fe-2S, FAD, Flavoprotein, Iron, Iron-sulfur, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Apoptosis-inducing factor 3 (EC:1.-.-.-)
Alternative name(s):
Apoptosis-inducing factor-like protein
Gene namesi
Name:AIFM3
Synonyms:AIFL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:26398. AIFM3.

Subcellular locationi

  • Mitochondrion 1 Publication

  • Note: Does not translocate to the nucleus upon induction of apoptosis.

GO - Cellular componenti

  • endoplasmic reticulum Source: HGNC
  • mitochondrial inner membrane Source: HGNC
  • mitochondrion Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162376173.

Polymorphism and mutation databases

BioMutaiAIFM3.
DMDMi74732608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 605605Apoptosis-inducing factor 3PRO_0000255660Add
BLAST

Proteomic databases

PaxDbiQ96NN9.
PRIDEiQ96NN9.

PTM databases

iPTMnetiQ96NN9.
PhosphoSiteiQ96NN9.

Expressioni

Tissue specificityi

Ubiquitous. Expressed in bone marrow, cerebral cortex, liver, ovary, thymus, thyroid gland and tongue (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000183773.
CleanExiHS_AIFM3.
ExpressionAtlasiQ96NN9. baseline and differential.
GenevisibleiQ96NN9. HS.

Organism-specific databases

HPAiHPA001271.

Interactioni

Protein-protein interaction databases

BioGridi127270. 8 interactions.
IntActiQ96NN9. 1 interaction.
STRINGi9606.ENSP00000382120.

Structurei

3D structure databases

ProteinModelPortaliQ96NN9.
SMRiQ96NN9. Positions 72-169, 192-562.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini70 – 16596RieskePROSITE-ProRule annotationAdd
BLAST

Domaini

The Rieske domain induces apoptosis.

Sequence similaritiesi

Contains 1 Rieske domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1336. Eukaryota.
COG0446. LUCA.
COG2146. LUCA.
GeneTreeiENSGT00530000063416.
HOVERGENiHBG052926.
InParanoidiQ96NN9.
OMAiLHSKTGD.
OrthoDBiEOG091G07EG.
PhylomeDBiQ96NN9.
TreeFamiTF314028.

Family and domain databases

Gene3Di2.102.10.10. 1 hit.
3.30.390.30. 1 hit.
3.50.50.60. 2 hits.
InterProiIPR023753. FAD/NAD-binding_dom.
IPR016156. FAD/NAD-linked_Rdtase_dimer.
IPR004099. Pyr_nucl-diS_OxRdtase_dimer.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
IPR028202. Reductase_C.
IPR017941. Rieske_2Fe-2S.
[Graphical view]
PfamiPF07992. Pyr_redox_2. 1 hit.
PF14759. Reductase_C. 1 hit.
PF00355. Rieske. 1 hit.
[Graphical view]
PRINTSiPR00469. PNDRDTASEII.
SUPFAMiSSF50022. SSF50022. 1 hit.
SSF51905. SSF51905. 1 hit.
SSF55424. SSF55424. 1 hit.
PROSITEiPS51296. RIESKE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96NN9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGGCFSKPKP VELKIEVVLP EKERGKEELS ASGKGSPRAY QGNGTARHFH
60 70 80 90 100
TEERLSTPHP YPSPQDCVEA AVCHVKDLEN GQMREVELGW GKVLLVKDNG
110 120 130 140 150
EFHALGHKCP HYGAPLVKGV LSRGRVRCPW HGACFNISTG DLEDFPGLDS
160 170 180 190 200
LHKFQVKIEK EKVYVRASKQ ALQLQRRTKV MAKCISPSAG YSSSTNVLIV
210 220 230 240 250
GAGAAGLVCA ETLRQEGFSD RIVLCTLDRH LPYDRPKLSK SLDTQPEQLA
260 270 280 290 300
LRPKEFFRAY GIEVLTEAQV VTVDVRTKKV VFKDGFKLEY SKLLLAPGSS
310 320 330 340 350
PKTLSCKGKE VENVFTIRTP EDANRVVRLA RGRNVVVVGA GFLGMEVAAY
360 370 380 390 400
LTEKAHSVSV VELEETPFRR FLGERVGRAL MKMFENNRVK FYMQTEVSEL
410 420 430 440 450
RGQEGKLKEV VLKSSKVVRA DVCVVGIGAV PATGFLRQSG IGLDSRGFIP
460 470 480 490 500
VNKMMQTNVP GVFAAGDAVT FPLAWRNNRK VNIPHWQMAH AQGRVAAQNM
510 520 530 540 550
LAQEAEMSTV PYLWTAMFGK SLRYAGYGEG FDDVIIQGDL EELKFVAFYT
560 570 580 590 600
KGDEVIAVAS MNYDPIVSKV AEVLASGRAI RKREVELFVL HSKTGDMSWL

TGKGS
Length:605
Mass (Da):66,791
Last modified:December 1, 2001 - v1
Checksum:iC1DF20AE2AF2E262
GO
Isoform 2 (identifier: Q96NN9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-10: P → PGAALPT
     587-593: Missing.

Show »
Length:604
Mass (Da):66,477
Checksum:iAEF75FBE911988A6
GO
Isoform 3 (identifier: Q96NN9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     587-593: Missing.

Note: No experimental confirmation available.
Show »
Length:598
Mass (Da):65,966
Checksum:iE49D7ED5BBF7F30E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti165 – 1651V → A in BAC04434 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti508 – 5081S → T.
Corresponds to variant rs61356271 [ dbSNP | Ensembl ].
VAR_061553

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei10 – 101P → PGAALPT in isoform 2. 1 PublicationVSP_021300
Alternative sequencei587 – 5937Missing in isoform 2 and isoform 3. 2 PublicationsVSP_021303

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456342 mRNA. Translation: CAG30228.1.
AK055035 mRNA. Translation: BAB70841.1.
AK094844 mRNA. Translation: BAC04434.1.
AC002470 Genomic DNA. No translation available.
CH471176 Genomic DNA. Translation: EAX02924.1.
CH471176 Genomic DNA. Translation: EAX02925.1.
CH471176 Genomic DNA. Translation: EAX02926.1.
CH471176 Genomic DNA. Translation: EAX02927.1.
CH471176 Genomic DNA. Translation: EAX02930.1.
CH471176 Genomic DNA. Translation: EAX02931.1.
BC032485 mRNA. Translation: AAH32485.1.
CCDSiCCDS13786.1. [Q96NN9-1]
CCDS33605.1. [Q96NN9-3]
CCDS54503.1. [Q96NN9-2]
RefSeqiNP_001018070.1. NM_001018060.2. [Q96NN9-3]
NP_001139760.1. NM_001146288.1. [Q96NN9-2]
NP_653305.1. NM_144704.2. [Q96NN9-1]
UniGeneiHs.723246.

Genome annotation databases

EnsembliENST00000399163; ENSP00000382116; ENSG00000183773. [Q96NN9-3]
ENST00000399167; ENSP00000382120; ENSG00000183773. [Q96NN9-1]
ENST00000405089; ENSP00000385800; ENSG00000183773. [Q96NN9-2]
ENST00000440238; ENSP00000390798; ENSG00000183773. [Q96NN9-1]
GeneIDi150209.
KEGGihsa:150209.
UCSCiuc002ztj.3. human. [Q96NN9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456342 mRNA. Translation: CAG30228.1.
AK055035 mRNA. Translation: BAB70841.1.
AK094844 mRNA. Translation: BAC04434.1.
AC002470 Genomic DNA. No translation available.
CH471176 Genomic DNA. Translation: EAX02924.1.
CH471176 Genomic DNA. Translation: EAX02925.1.
CH471176 Genomic DNA. Translation: EAX02926.1.
CH471176 Genomic DNA. Translation: EAX02927.1.
CH471176 Genomic DNA. Translation: EAX02930.1.
CH471176 Genomic DNA. Translation: EAX02931.1.
BC032485 mRNA. Translation: AAH32485.1.
CCDSiCCDS13786.1. [Q96NN9-1]
CCDS33605.1. [Q96NN9-3]
CCDS54503.1. [Q96NN9-2]
RefSeqiNP_001018070.1. NM_001018060.2. [Q96NN9-3]
NP_001139760.1. NM_001146288.1. [Q96NN9-2]
NP_653305.1. NM_144704.2. [Q96NN9-1]
UniGeneiHs.723246.

3D structure databases

ProteinModelPortaliQ96NN9.
SMRiQ96NN9. Positions 72-169, 192-562.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127270. 8 interactions.
IntActiQ96NN9. 1 interaction.
STRINGi9606.ENSP00000382120.

PTM databases

iPTMnetiQ96NN9.
PhosphoSiteiQ96NN9.

Polymorphism and mutation databases

BioMutaiAIFM3.
DMDMi74732608.

Proteomic databases

PaxDbiQ96NN9.
PRIDEiQ96NN9.

Protocols and materials databases

DNASUi150209.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399163; ENSP00000382116; ENSG00000183773. [Q96NN9-3]
ENST00000399167; ENSP00000382120; ENSG00000183773. [Q96NN9-1]
ENST00000405089; ENSP00000385800; ENSG00000183773. [Q96NN9-2]
ENST00000440238; ENSP00000390798; ENSG00000183773. [Q96NN9-1]
GeneIDi150209.
KEGGihsa:150209.
UCSCiuc002ztj.3. human. [Q96NN9-1]

Organism-specific databases

CTDi150209.
GeneCardsiAIFM3.
HGNCiHGNC:26398. AIFM3.
HPAiHPA001271.
neXtProtiNX_Q96NN9.
PharmGKBiPA162376173.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1336. Eukaryota.
COG0446. LUCA.
COG2146. LUCA.
GeneTreeiENSGT00530000063416.
HOVERGENiHBG052926.
InParanoidiQ96NN9.
OMAiLHSKTGD.
OrthoDBiEOG091G07EG.
PhylomeDBiQ96NN9.
TreeFamiTF314028.

Miscellaneous databases

GenomeRNAii150209.
PROiQ96NN9.

Gene expression databases

BgeeiENSG00000183773.
CleanExiHS_AIFM3.
ExpressionAtlasiQ96NN9. baseline and differential.
GenevisibleiQ96NN9. HS.

Family and domain databases

Gene3Di2.102.10.10. 1 hit.
3.30.390.30. 1 hit.
3.50.50.60. 2 hits.
InterProiIPR023753. FAD/NAD-binding_dom.
IPR016156. FAD/NAD-linked_Rdtase_dimer.
IPR004099. Pyr_nucl-diS_OxRdtase_dimer.
IPR000103. Pyridine_nuc-diS_OxRdtase_2.
IPR028202. Reductase_C.
IPR017941. Rieske_2Fe-2S.
[Graphical view]
PfamiPF07992. Pyr_redox_2. 1 hit.
PF14759. Reductase_C. 1 hit.
PF00355. Rieske. 1 hit.
[Graphical view]
PRINTSiPR00469. PNDRDTASEII.
SUPFAMiSSF50022. SSF50022. 1 hit.
SSF51905. SSF51905. 1 hit.
SSF55424. SSF55424. 1 hit.
PROSITEiPS51296. RIESKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAIFM3_HUMAN
AccessioniPrimary (citable) accession number: Q96NN9
Secondary accession number(s): B7WP37
, D3DX37, D3DX38, Q6ZT44, Q8N1V3, Q8N5E0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: December 1, 2001
Last modified: September 7, 2016
This is version 125 of the entry and version 1 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 22
    Human chromosome 22: 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. 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.