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Protein

Reticulon-4-interacting protein 1, mitochondrial

Gene

RTN4IP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Neurogenesis

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:18647. RTN4IP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031R → H in OPA10. 1 Publication
VAR_076369

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616732. phenotype.
PharmGKBiPA38619.

Polymorphism and mutation databases

BioMutaiRTN4IP1.
DMDMi76789669.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4040MitochondrionSequence analysisCombined sourcesAdd
BLAST
Chaini41 – 396356Reticulon-4-interacting protein 1, mitochondrialPRO_0000042114Add
BLAST

Proteomic databases

EPDiQ8WWV3.
MaxQBiQ8WWV3.
PaxDbiQ8WWV3.
PeptideAtlasiQ8WWV3.
PRIDEiQ8WWV3.

PTM databases

iPTMnetiQ8WWV3.
PhosphoSiteiQ8WWV3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000130347.
CleanExiHS_RTN4IP1.
ExpressionAtlasiQ8WWV3. baseline and differential.
GenevisibleiQ8WWV3. HS.

Organism-specific databases

HPAiHPA036357.

Interactioni

Subunit structurei

Interacts with RTN4, UQCRC1 and UQCRC2.By similarity

Protein-protein interaction databases

BioGridi124276. 17 interactions.
IntActiQ8WWV3. 6 interactions.
MINTiMINT-243835.
STRINGi9606.ENSP00000358059.

Structurei

Secondary structure

1
396
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi45 – 506Combined sources
Helixi54 – 563Combined sources
Beta strandi58 – 636Combined sources
Beta strandi73 – 8311Combined sources
Helixi85 – 917Combined sources
Turni92 – 954Combined sources
Helixi96 – 1038Combined sources
Turni111 – 1144Combined sources
Beta strandi122 – 1309Combined sources
Beta strandi142 – 1465Combined sources
Beta strandi154 – 1629Combined sources
Helixi163 – 1653Combined sources
Beta strandi166 – 1683Combined sources
Helixi175 – 1784Combined sources
Helixi182 – 19211Combined sources
Turni193 – 1964Combined sources
Turni200 – 2023Combined sources
Beta strandi207 – 2126Combined sources
Helixi216 – 22712Combined sources
Beta strandi231 – 2366Combined sources
Helixi238 – 2403Combined sources
Helixi241 – 2466Combined sources
Beta strandi250 – 2545Combined sources
Helixi260 – 2656Combined sources
Beta strandi270 – 2778Combined sources
Helixi281 – 2844Combined sources
Helixi285 – 2884Combined sources
Beta strandi291 – 2933Combined sources
Beta strandi296 – 3005Combined sources
Helixi304 – 3118Combined sources
Helixi313 – 33321Combined sources
Beta strandi337 – 3404Combined sources
Helixi347 – 35812Combined sources
Beta strandi366 – 3716Combined sources
Helixi372 – 3743Combined sources
Helixi375 – 38410Combined sources
Beta strandi388 – 3947Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2VN8X-ray2.10A/B45-396[»]
ProteinModelPortaliQ8WWV3.
SMRiQ8WWV3. Positions 45-396.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WWV3.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1198. Eukaryota.
COG0604. LUCA.
GeneTreeiENSGT00550000074483.
HOGENOMiHOG000294678.
HOVERGENiHBG079843.
InParanoidiQ8WWV3.
OMAiKTQDFET.
OrthoDBiEOG091G0LOJ.
PhylomeDBiQ8WWV3.
TreeFamiTF313919.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
3.90.180.10. 1 hit.
InterProiIPR013154. ADH_N.
IPR002085. ADH_SF_Zn-type.
IPR011032. GroES-like.
IPR016040. NAD(P)-bd_dom.
IPR020843. PKS_ER.
IPR002364. Quin_OxRdtase/zeta-crystal_CS.
[Graphical view]
PANTHERiPTHR11695. PTHR11695. 2 hits.
PfamiPF08240. ADH_N. 1 hit.
[Graphical view]
SMARTiSM00829. PKS_ER. 1 hit.
[Graphical view]
SUPFAMiSSF50129. SSF50129. 1 hit.
SSF51735. SSF51735. 1 hit.
PROSITEiPS01162. QOR_ZETA_CRYSTAL. 1 hit.
[Graphical view]

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti65 – 651M → V in AAL34525 (Ref. 1) Curated
Sequence conflicti84 – 841N → Y in AAL40856 (Ref. 1) Curated
Sequence conflicti164 – 1641N → S in BAC04499 (PubMed:14702039).Curated
Sequence conflicti182 – 1821P → S in AAL34525 (Ref. 1) Curated
Sequence conflicti317 – 3171M → T in AAL40856 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031R → H in OPA10. 1 Publication
VAR_076369

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 100100Missing in isoform 2. 1 PublicationVSP_015742Add
BLAST
Alternative sequencei208 – 22619VLILG…IQVMK → ISGKESIIAGHFSWPVAH in isoform 3. 1 PublicationVSP_015743Add
BLAST
Alternative sequencei227 – 396170Missing in isoform 3. 1 PublicationVSP_015744Add
BLAST

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. Translation: CAH72095.1.
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

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. Translation: CAH72095.1.
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
EntryMethodResolution (Å)ChainPositionsPDBsum
2VN8X-ray2.10A/B45-396[»]
ProteinModelPortaliQ8WWV3.
SMRiQ8WWV3. Positions 45-396.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124276. 17 interactions.
IntActiQ8WWV3. 6 interactions.
MINTiMINT-243835.
STRINGi9606.ENSP00000358059.

PTM databases

iPTMnetiQ8WWV3.
PhosphoSiteiQ8WWV3.

Polymorphism and mutation databases

BioMutaiRTN4IP1.
DMDMi76789669.

Proteomic databases

EPDiQ8WWV3.
MaxQBiQ8WWV3.
PaxDbiQ8WWV3.
PeptideAtlasiQ8WWV3.
PRIDEiQ8WWV3.

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.
GeneCardsiRTN4IP1.
HGNCiHGNC:18647. RTN4IP1.
HPAiHPA036357.
MIMi610502. gene.
616732. phenotype.
neXtProtiNX_Q8WWV3.
PharmGKBiPA38619.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1198. Eukaryota.
COG0604. LUCA.
GeneTreeiENSGT00550000074483.
HOGENOMiHOG000294678.
HOVERGENiHBG079843.
InParanoidiQ8WWV3.
OMAiKTQDFET.
OrthoDBiEOG091G0LOJ.
PhylomeDBiQ8WWV3.
TreeFamiTF313919.

Miscellaneous databases

EvolutionaryTraceiQ8WWV3.
GenomeRNAii84816.
PROiQ8WWV3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130347.
CleanExiHS_RTN4IP1.
ExpressionAtlasiQ8WWV3. baseline and differential.
GenevisibleiQ8WWV3. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
3.90.180.10. 1 hit.
InterProiIPR013154. ADH_N.
IPR002085. ADH_SF_Zn-type.
IPR011032. GroES-like.
IPR016040. NAD(P)-bd_dom.
IPR020843. PKS_ER.
IPR002364. Quin_OxRdtase/zeta-crystal_CS.
[Graphical view]
PANTHERiPTHR11695. PTHR11695. 2 hits.
PfamiPF08240. ADH_N. 1 hit.
[Graphical view]
SMARTiSM00829. PKS_ER. 1 hit.
[Graphical view]
SUPFAMiSSF50129. SSF50129. 1 hit.
SSF51735. SSF51735. 1 hit.
PROSITEiPS01162. QOR_ZETA_CRYSTAL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRT4I1_HUMAN
AccessioniPrimary (citable) accession number: Q8WWV3
Secondary accession number(s): Q8N9B3, Q8WZ66, Q9BRA4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: September 27, 2005
Last modified: September 7, 2016
This is version 118 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.