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Q16799

- RTN1_HUMAN

UniProt

Q16799 - RTN1_HUMAN

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Protein

Reticulon-1

Gene

RTN1

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

Functioni

May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.

GO - Biological processi

  1. neuron differentiation Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Reticulon-1
Alternative name(s):
Neuroendocrine-specific protein
Gene namesi
Name:RTN1
Synonyms:NSP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:10467. RTN1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei603 – 62321HelicalSequence AnalysisAdd
BLAST
Transmembranei705 – 72521HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB
  2. integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34880.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 776776Reticulon-1PRO_0000168158Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei487 – 4871Phosphoserine1 Publication

Post-translational modificationi

Isoforms RTN1-A and RTN1-B are phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ16799.
PaxDbiQ16799.
PRIDEiQ16799.

PTM databases

PhosphoSiteiQ16799.

Expressioni

Tissue specificityi

Expressed in neural and neuroendocrine tissues and cell cultures derived therefrom. Expression of isoform RTN1-C is strongly correlated with neuronal differentiation.1 Publication

Gene expression databases

BgeeiQ16799.
CleanExiHS_RTN1.
ExpressionAtlasiQ16799. baseline and differential.
GenevestigatoriQ16799.

Organism-specific databases

HPAiCAB002745.

Interactioni

Subunit structurei

Interacts with NDRG1.1 Publication

Protein-protein interaction databases

BioGridi112165. 7 interactions.
IntActiQ16799. 4 interactions.
MINTiMINT-154554.
STRINGi9606.ENSP00000267484.

Structurei

3D structure databases

ProteinModelPortaliQ16799.
SMRiQ16799. Positions 639-704.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini589 – 776188ReticulonPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi609 – 6124Poly-Leu

Sequence similaritiesi

Contains 1 reticulon domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG306139.
GeneTreeiENSGT00390000009934.
HOGENOMiHOG000134444.
HOVERGENiHBG008971.
InParanoidiQ16799.
OMAiQITTPVK.
OrthoDBiEOG7CZK7J.
PhylomeDBiQ16799.
TreeFamiTF105431.

Family and domain databases

InterProiIPR003388. Reticulon.
[Graphical view]
PANTHERiPTHR10994. PTHR10994. 1 hit.
PfamiPF02453. Reticulon. 1 hit.
[Graphical view]
PROSITEiPS50845. RETICULON. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform RTN1-A (identifier: Q16799-1) [UniParc]FASTAAdd to Basket

Also known as: NSP-A

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
MAAPGDPQDE LLPLAGPGSQ WLRHRGEGEN EAVTPKGATP APQAGEPSPG
60 70 80 90 100
LGARAREAAS REAGSGPARQ SPVAMETAST GVAGVSSAMD HTFSTTSKDG
110 120 130 140 150
EGSCYTSLIS DICYPPQEDS TYFTGILQKE NGHVTISESP EELGTPGPSL
160 170 180 190 200
PDVPGIESRG LFSSDSGIEM TPAESTEVNK ILADPLDQMK AEAYKYIDIT
210 220 230 240 250
RPEEVKHQEQ HHPELEDKDL DFKNKDTDIS IKPEGVREPD KPAPVEGKII
260 270 280 290 300
KDHLLEESTF APYIDDLSEE QRRAPQITTP VKITLTEIEP SVETTTQEKT
310 320 330 340 350
PEKQDICLKP SPDTVPTVTV SEPEDDSPGS ITPPSSGTEP SAAESQGKGS
360 370 380 390 400
ISEDELITAI KEAKGLSYET AENPRPVGQL ADRPEVKARS GPPTIPSPLD
410 420 430 440 450
HEASSAESGD SEIELVSEDP MAAEDALPSG YVSFGHVGGP PPSPASPSIQ
460 470 480 490 500
YSILREEREA ELDSELIIES CDASSASEES PKREQDSPPM KPSALDAIRE
510 520 530 540 550
ETGVRAEERA PSRRGLAEPG SFLDYPSTEP QPGPELPPGD GALEPETPML
560 570 580 590 600
PRKPEEDSSS NQSPAATKGP GPLGPGAPPP LLFLNKQKAI DLLYWRDIKQ
610 620 630 640 650
TGIVFGSFLL LLFSLTQFSV VSVVAYLALA ALSATISFRI YKSVLQAVQK
660 670 680 690 700
TDEGHPFKAY LELEITLSQE QIQKYTDCLQ FYVNSTLKEL RRLFLVQDLV
710 720 730 740 750
DSLKFAVLMW LLTYVGALFN GLTLLLMAVV SMFTLPVVYV KHQAQIDQYL
760 770
GLVRTHINAV VAKIQAKIPG AKRHAE
Length:776
Mass (Da):83,618
Last modified:November 1, 1996 - v1
Checksum:iCA5B6232353096FE
GO
Isoform RTN1-B (identifier: Q16799-2) [UniParc]FASTAAdd to Basket

Also known as: NSP-B

The sequence of this isoform differs from the canonical sequence as follows:
     1-420: Missing.

Show »
Length:356
Mass (Da):38,950
Checksum:iBE8956BC59FB6F08
GO
Isoform RTN1-C (identifier: Q16799-3) [UniParc]FASTAAdd to Basket

Also known as: NSP-C

The sequence of this isoform differs from the canonical sequence as follows:
     1-568: Missing.
     569-588: GPGPLGPGAPPPLLFLNKQK → MQATADSTKMDCVWSNWKSQ

Show »
Length:208
Mass (Da):23,576
Checksum:i49C5668130635E17
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti247 – 2471G → E.
Corresponds to variant rs35645652 [ dbSNP | Ensembl ].
VAR_053630
Natural varianti357 – 3571I → V.
Corresponds to variant rs35707243 [ dbSNP | Ensembl ].
VAR_053631

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 568568Missing in isoform RTN1-C. 2 PublicationsVSP_005645Add
BLAST
Alternative sequencei1 – 420420Missing in isoform RTN1-B. 1 PublicationVSP_005644Add
BLAST
Alternative sequencei569 – 58820GPGPL…LNKQK → MQATADSTKMDCVWSNWKSQ in isoform RTN1-C. 2 PublicationsVSP_005646Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10333 mRNA. Translation: AAA59950.1.
L10334 mRNA. Translation: AAA59951.1.
L10335 mRNA. Translation: AAA59952.1.
CH471061 Genomic DNA. Translation: EAW80762.1.
BC090862 mRNA. Translation: AAH90862.1.
BC000314 mRNA. Translation: AAH00314.2.
BC003003 mRNA. Translation: AAH03003.2.
CCDSiCCDS9740.1. [Q16799-1]
CCDS9741.1. [Q16799-3]
PIRiA46583.
I60904.
RefSeqiNP_066959.1. NM_021136.2. [Q16799-1]
NP_996734.1. NM_206852.2. [Q16799-3]
UniGeneiHs.368626.

Genome annotation databases

EnsembliENST00000267484; ENSP00000267484; ENSG00000139970. [Q16799-1]
ENST00000342503; ENSP00000340716; ENSG00000139970. [Q16799-3]
GeneIDi6252.
KEGGihsa:6252.
UCSCiuc001xek.2. human. [Q16799-3]
uc001xem.1. human. [Q16799-2]
uc001xen.1. human. [Q16799-1]

Polymorphism databases

DMDMi12643733.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10333 mRNA. Translation: AAA59950.1 .
L10334 mRNA. Translation: AAA59951.1 .
L10335 mRNA. Translation: AAA59952.1 .
CH471061 Genomic DNA. Translation: EAW80762.1 .
BC090862 mRNA. Translation: AAH90862.1 .
BC000314 mRNA. Translation: AAH00314.2 .
BC003003 mRNA. Translation: AAH03003.2 .
CCDSi CCDS9740.1. [Q16799-1 ]
CCDS9741.1. [Q16799-3 ]
PIRi A46583.
I60904.
RefSeqi NP_066959.1. NM_021136.2. [Q16799-1 ]
NP_996734.1. NM_206852.2. [Q16799-3 ]
UniGenei Hs.368626.

3D structure databases

ProteinModelPortali Q16799.
SMRi Q16799. Positions 639-704.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112165. 7 interactions.
IntActi Q16799. 4 interactions.
MINTi MINT-154554.
STRINGi 9606.ENSP00000267484.

PTM databases

PhosphoSitei Q16799.

Polymorphism databases

DMDMi 12643733.

Proteomic databases

MaxQBi Q16799.
PaxDbi Q16799.
PRIDEi Q16799.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267484 ; ENSP00000267484 ; ENSG00000139970 . [Q16799-1 ]
ENST00000342503 ; ENSP00000340716 ; ENSG00000139970 . [Q16799-3 ]
GeneIDi 6252.
KEGGi hsa:6252.
UCSCi uc001xek.2. human. [Q16799-3 ]
uc001xem.1. human. [Q16799-2 ]
uc001xen.1. human. [Q16799-1 ]

Organism-specific databases

CTDi 6252.
GeneCardsi GC14M060062.
HGNCi HGNC:10467. RTN1.
HPAi CAB002745.
MIMi 600865. gene.
neXtProti NX_Q16799.
PharmGKBi PA34880.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG306139.
GeneTreei ENSGT00390000009934.
HOGENOMi HOG000134444.
HOVERGENi HBG008971.
InParanoidi Q16799.
OMAi QITTPVK.
OrthoDBi EOG7CZK7J.
PhylomeDBi Q16799.
TreeFami TF105431.

Miscellaneous databases

ChiTaRSi RTN1. human.
GeneWikii RTN1.
GenomeRNAii 6252.
NextBioi 24277.
PROi Q16799.
SOURCEi Search...

Gene expression databases

Bgeei Q16799.
CleanExi HS_RTN1.
ExpressionAtlasi Q16799. baseline and differential.
Genevestigatori Q16799.

Family and domain databases

InterProi IPR003388. Reticulon.
[Graphical view ]
PANTHERi PTHR10994. PTHR10994. 1 hit.
Pfami PF02453. Reticulon. 1 hit.
[Graphical view ]
PROSITEi PS50845. RETICULON. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and expression of alternative transcripts of a novel neuroendocrine-specific gene and identification of its 135-kDa translational product."
    Roebroek A.J.M., Van de Velde H.J.K., Van Bokhoven A., Broers J.L.V., Ramaekers F.C.S., Van de Ven W.J.M.
    J. Biol. Chem. 268:13439-13447(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS RTN1-A; RTN1-B AND RTN1-C).
    Tissue: Lung carcinoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS RTN1-A AND RTN1-C).
    Tissue: Lung and PNS.
  4. "Genomic organization of the human NSP gene, prototype of a novel gene family encoding reticulons."
    Roebroek A.J.M., Ayoubi T.A.Y., Van de Velde H.J.K., Schoenmakers E.F.P.M., Pauli I.G.L., Van de Ven W.J.M.
    Genomics 32:191-199(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING.
  5. Cited for: TISSUE SPECIFICITY.
  6. "NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24."
    Hunter M., Angelicheva D., Tournev I., Ingley E., Chan D.C., Watts G.F., Kremensky I., Kalaydjieva L.
    Biochem. Biophys. Res. Commun. 332:982-992(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDRG1.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-487, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.

Entry informationi

Entry nameiRTN1_HUMAN
AccessioniPrimary (citable) accession number: Q16799
Secondary accession number(s): Q16800
, Q16801, Q5BKZ4, Q9BQ59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 120 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 14
    Human chromosome 14: 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

External Data

Dasty 3