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UniProtKB - Q8WWV3 (RT4I1_HUMAN)

Protein

Reticulon-4-interacting protein 1, mitochondrial

Gene

RTN4IP1

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

Functioni

Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processNeurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Reticulon-4-interacting protein 1, mitochondrial
Alternative name(s):
NOGO-interacting mitochondrial protein
Gene namesi
Name:RTN4IP1
Synonyms:NIMP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000130347.12
HGNCiHGNC:18647 RTN4IP1
MIMi610502 gene
neXtProtiNX_Q8WWV3

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 outer membrane

Pathology & Biotechi

Involvement in diseasei

Optic atrophy 10 with or without ataxia, mental retardation, and seizures (OPA10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild mental retardation and, rarely, generalized seizures.
See also OMIM:616732
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076369103R → H in OPA10. 1 PublicationCorresponds to variant dbSNP:rs372054380EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84816
MalaCardsiRTN4IP1
MIMi616732 phenotype
OpenTargetsiENSG00000130347
Orphaneti98676 Autosomal recessive isolated optic atrophy
PharmGKBiPA38619

Polymorphism and mutation databases

BioMutaiRTN4IP1
DMDMi76789669

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 40MitochondrionSequence analysisCombined sourcesAdd BLAST40
ChainiPRO_000004211441 – 396Reticulon-4-interacting protein 1, mitochondrialAdd BLAST356

Proteomic databases

EPDiQ8WWV3
MaxQBiQ8WWV3
PaxDbiQ8WWV3
PeptideAtlasiQ8WWV3
PRIDEiQ8WWV3
ProteomicsDBi74937
74938 [Q8WWV3-2]
74939 [Q8WWV3-3]

PTM databases

iPTMnetiQ8WWV3
PhosphoSitePlusiQ8WWV3

Expressioni

Tissue specificityi

Widely expressed in mitochondria-enriched tissues. Found in heart, muscle, kidney, liver, brain and placenta.1 Publication

Gene expression databases

BgeeiENSG00000130347 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExiHS_RTN4IP1
ExpressionAtlasiQ8WWV3 baseline and differential
GenevisibleiQ8WWV3 HS

Organism-specific databases

HPAiHPA036357

Interactioni

Subunit structurei

Interacts with RTN4, UQCRC1 and UQCRC2.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CTAG1BP783584EBI-743502,EBI-1188472

Protein-protein interaction databases

BioGridi124276, 20 interactors
IntActiQ8WWV3, 29 interactors
STRINGi9606.ENSP00000358059

Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8WWV3
SMRiQ8WWV3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WWV3

Family & Domainsi

Sequence similaritiesi

Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1198 Eukaryota
COG0604 LUCA
GeneTreeiENSGT00880000138028
HOGENOMiHOG000294678
HOVERGENiHBG079843
InParanoidiQ8WWV3
OMAiTSWQALK
OrthoDBiEOG091G0LOJ
PhylomeDBiQ8WWV3
TreeFamiTF313919

Family and domain databases

CDDicd08248 RTN4I1, 1 hit
InterProiView protein in InterPro
IPR013154 ADH_N
IPR011032 GroES-like_sf
IPR036291 NAD(P)-bd_dom_sf
IPR020843 PKS_ER
IPR002364 Quin_OxRdtase/zeta-crystal_CS
IPR037397 RTN4I1
PfamiView protein in Pfam
PF08240 ADH_N, 1 hit
SMARTiView protein in SMART
SM00829 PKS_ER, 1 hit
SUPFAMiSSF50129 SSF50129, 1 hit
SSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS01162 QOR_ZETA_CRYSTAL, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WWV3-1) [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
MEFLKTCVLR RNACTAVCFW RSKVVQKPSV RRISTTSPRS TVMPAWVIDK 
        60         70         80         90        100
YGKNEVLRFT QNMMMPIIHY PNEVIVKVHA ASVNPIDVNM RSGYGATALN 
       110        120        130        140        150
MKRDPLHVKI KGEEFPLTLG RDVSGVVMEC GLDVKYFKPG DEVWAAVPPW 
       160        170        180        190        200
KQGTLSEFVV VSGNEVSHKP KSLTHTQAAS LPYVALTAWS AINKVGGLND 
       210        220        230        240        250
KNCTGKRVLI LGASGGVGTF AIQVMKAWDA HVTAVCSQDA SELVRKLGAD 
       260        270        280        290        300
DVIDYKSGSV EEQLKSLKPF DFILDNVGGS TETWAPDFLK KWSGATYVTL 
       310        320        330        340        350
VTPFLLNMDR LGIADGMLQT GVTVGSKALK HFWKGVHYRW AFFMASGPCL 
       360        370        380        390 
DDIAELVDAG KIRPVIEQTF PFSKVPEAFL KVERGHARGK TVINVV
Length:396
Mass (Da):43,590
Last modified:September 27, 2005 - v2
Checksum:iDF173BF75A86E39B
GO
Isoform 2 (identifier: Q8WWV3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Note: No experimental confirmation available.
Show »
Length:296
Mass (Da):32,235
Checksum:i0EEA47FBF62900FE
GO
Isoform 3 (identifier: Q8WWV3-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     208-226: VLILGASGGVGTFAIQVMK → ISGKESIIAGHFSWPVAH
     227-396: Missing.

Show »
Length:225
Mass (Da):24,936
Checksum:iF842E4EA73B7E8A1
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1R2G3V1R2_HUMAN
Reticulon-4-interacting protein 1, ...
RTN4IP1
226Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti65M → V in AAL34525 (Ref. 1) Curated1
Sequence conflicti84N → Y in AAL40856 (Ref. 1) Curated1
Sequence conflicti164N → S in BAC04499 (PubMed:14702039).Curated1
Sequence conflicti182P → S in AAL34525 (Ref. 1) Curated1
Sequence conflicti317M → T in AAL40856 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076369103R → H in OPA10. 1 PublicationCorresponds to variant dbSNP:rs372054380EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0157421 – 100Missing in isoform 2. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_015743208 – 226VLILG…IQVMK → ISGKESIIAGHFSWPVAH in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_015744227 – 396Missing in isoform 3. 1 PublicationAdd BLAST170

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF439711 mRNA Translation: AAL34525.1
AY063761 mRNA Translation: AAL40856.1
AK095207 mRNA Translation: BAC04499.1
AL390074 Genomic DNA No translation available.
BC006399 mRNA Translation: AAH06399.2
CCDSiCCDS5056.1 [Q8WWV3-1]
RefSeqiNP_001305675.1, NM_001318746.1 [Q8WWV3-2]
NP_116119.2, NM_032730.5 [Q8WWV3-1]
UniGeneiHs.155839

Genome annotation databases

EnsembliENST00000369063; ENSP00000358059; ENSG00000130347 [Q8WWV3-1]
GeneIDi84816
KEGGihsa:84816
UCSCiuc003prj.4 human [Q8WWV3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF439711 mRNA Translation: AAL34525.1
AY063761 mRNA Translation: AAL40856.1
AK095207 mRNA Translation: BAC04499.1
AL390074 Genomic DNA No translation available.
BC006399 mRNA Translation: AAH06399.2
CCDSiCCDS5056.1 [Q8WWV3-1]
RefSeqiNP_001305675.1, NM_001318746.1 [Q8WWV3-2]
NP_116119.2, NM_032730.5 [Q8WWV3-1]
UniGeneiHs.155839

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VN8X-ray2.10A/B45-396[»]
ProteinModelPortaliQ8WWV3
SMRiQ8WWV3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124276, 20 interactors
IntActiQ8WWV3, 29 interactors
STRINGi9606.ENSP00000358059

PTM databases

iPTMnetiQ8WWV3
PhosphoSitePlusiQ8WWV3

Polymorphism and mutation databases

BioMutaiRTN4IP1
DMDMi76789669

Proteomic databases

EPDiQ8WWV3
MaxQBiQ8WWV3
PaxDbiQ8WWV3
PeptideAtlasiQ8WWV3
PRIDEiQ8WWV3
ProteomicsDBi74937
74938 [Q8WWV3-2]
74939 [Q8WWV3-3]

Protocols and materials databases

DNASUi84816
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369063; ENSP00000358059; ENSG00000130347 [Q8WWV3-1]
GeneIDi84816
KEGGihsa:84816
UCSCiuc003prj.4 human [Q8WWV3-1]

Organism-specific databases

CTDi84816
DisGeNETi84816
EuPathDBiHostDB:ENSG00000130347.12
GeneCardsiRTN4IP1
HGNCiHGNC:18647 RTN4IP1
HPAiHPA036357
MalaCardsiRTN4IP1
MIMi610502 gene
616732 phenotype
neXtProtiNX_Q8WWV3
OpenTargetsiENSG00000130347
Orphaneti98676 Autosomal recessive isolated optic atrophy
PharmGKBiPA38619
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1198 Eukaryota
COG0604 LUCA
GeneTreeiENSGT00880000138028
HOGENOMiHOG000294678
HOVERGENiHBG079843
InParanoidiQ8WWV3
OMAiTSWQALK
OrthoDBiEOG091G0LOJ
PhylomeDBiQ8WWV3
TreeFamiTF313919

Miscellaneous databases

EvolutionaryTraceiQ8WWV3
GenomeRNAii84816
PROiPR:Q8WWV3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130347 Expressed in 176 organ(s), highest expression level in secondary oocyte
CleanExiHS_RTN4IP1
ExpressionAtlasiQ8WWV3 baseline and differential
GenevisibleiQ8WWV3 HS

Family and domain databases

CDDicd08248 RTN4I1, 1 hit
InterProiView protein in InterPro
IPR013154 ADH_N
IPR011032 GroES-like_sf
IPR036291 NAD(P)-bd_dom_sf
IPR020843 PKS_ER
IPR002364 Quin_OxRdtase/zeta-crystal_CS
IPR037397 RTN4I1
PfamiView protein in Pfam
PF08240 ADH_N, 1 hit
SMARTiView protein in SMART
SM00829 PKS_ER, 1 hit
SUPFAMiSSF50129 SSF50129, 1 hit
SSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS01162 QOR_ZETA_CRYSTAL, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRT4I1_HUMAN
AccessioniPrimary (citable) accession number: Q8WWV3
Secondary accession number(s): Q8N9B3, Q8WZ66, Q9BRA4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: September 27, 2005
Last modified: November 7, 2018
This is version 140 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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