Q16799 (RTN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Reticulon-1

Alternative name(s):
Neuroendocrine-specific protein

Gene names

Name:	RTN1
Synonyms:	NSP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	776 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.
Subunit structure	Interacts with NDRG1. Ref.6
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue specificity	Expressed in neural and neuroendocrine tissues and cell cultures derived therefrom. Expression of isoform RTN1-C is strongly correlated with neuronal differentiation. Ref.5
Post-translational modification	Isoforms RTN1-A and RTN1-B are phosphorylated.
Sequence similarities	Contains 1 reticulon domain.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	neuron differentiation Inferred from expression pattern Ref.5. Source: UniProtKB
Cellular_component	integral to endoplasmic reticulum membrane Traceable author statement Ref.4. Source: UniProtKB
Molecular_function	signal transducer activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform RTN1-A (identifier: Q16799-1)

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.

Isoform RTN1-B (identifier: Q16799-2)

Also known as: NSP-B;

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

Isoform RTN1-C (identifier: Q16799-3)

Also known as: NSP-C;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 776	776	Reticulon-1		PRO_0000168158
Regions
	Transmembrane	603 – 623	21	Helical; Potential
	Transmembrane	705 – 725	21	Helical; Potential
	Domain	589 – 776	188	Reticulon
	Compositional bias	609 – 612	4	Poly-Leu
Amino acid modifications
	Modified residue	350	1	Phosphoserine By similarity
	Modified residue	352	1	Phosphoserine By similarity
	Modified residue	487	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 568	568	Missing in isoform RTN1-C.		VSP_005645
	Alternative sequence	1 – 420	420	Missing in isoform RTN1-B.		VSP_005644
	Alternative sequence	569 – 588	20	GPGPL…LNKQK → MQATADSTKMDCVWSNWKSQ in isoform RTN1-C.		VSP_005646
	Natural variant	247	1	G → E. Corresponds to variant rs35645652 [ dbSNP | Ensembl ].		VAR_053630
	Natural variant	357	1	I → V. Corresponds to variant rs35707243 [ dbSNP | Ensembl ].		VAR_053631

Sequences

	Sequence		Length	Mass (Da)
	Isoform RTN1-A (NSP-A) [UniParc]. Last modified November 1, 1996. Version 1. Checksum: CA5B6232353096FE	FASTA	776	83,618
	10 20 30 40 50 60 MAAPGDPQDE LLPLAGPGSQ WLRHRGEGEN EAVTPKGATP APQAGEPSPG LGARAREAAS 70 80 90 100 110 120 REAGSGPARQ SPVAMETAST GVAGVSSAMD HTFSTTSKDG EGSCYTSLIS DICYPPQEDS 130 140 150 160 170 180 TYFTGILQKE NGHVTISESP EELGTPGPSL PDVPGIESRG LFSSDSGIEM TPAESTEVNK 190 200 210 220 230 240 ILADPLDQMK AEAYKYIDIT RPEEVKHQEQ HHPELEDKDL DFKNKDTDIS IKPEGVREPD 250 260 270 280 290 300 KPAPVEGKII KDHLLEESTF APYIDDLSEE QRRAPQITTP VKITLTEIEP SVETTTQEKT 310 320 330 340 350 360 PEKQDICLKP SPDTVPTVTV SEPEDDSPGS ITPPSSGTEP SAAESQGKGS ISEDELITAI 370 380 390 400 410 420 KEAKGLSYET AENPRPVGQL ADRPEVKARS GPPTIPSPLD HEASSAESGD SEIELVSEDP 430 440 450 460 470 480 MAAEDALPSG YVSFGHVGGP PPSPASPSIQ YSILREEREA ELDSELIIES CDASSASEES 490 500 510 520 530 540 PKREQDSPPM KPSALDAIRE ETGVRAEERA PSRRGLAEPG SFLDYPSTEP QPGPELPPGD 550 560 570 580 590 600 GALEPETPML PRKPEEDSSS NQSPAATKGP GPLGPGAPPP LLFLNKQKAI DLLYWRDIKQ 610 620 630 640 650 660 TGIVFGSFLL LLFSLTQFSV VSVVAYLALA ALSATISFRI YKSVLQAVQK TDEGHPFKAY 670 680 690 700 710 720 LELEITLSQE QIQKYTDCLQ FYVNSTLKEL RRLFLVQDLV DSLKFAVLMW LLTYVGALFN 730 740 750 760 770 GLTLLLMAVV SMFTLPVVYV KHQAQIDQYL GLVRTHINAV VAKIQAKIPG AKRHAE
	Isoform RTN1-B (NSP-B) [UniParc]. Checksum: BE8956BC59FB6F08	FASTA	356	38,950
	10 20 30 40 50 60 MAAEDALPSG YVSFGHVGGP PPSPASPSIQ YSILREEREA ELDSELIIES CDASSASEES 70 80 90 100 110 120 PKREQDSPPM KPSALDAIRE ETGVRAEERA PSRRGLAEPG SFLDYPSTEP QPGPELPPGD 130 140 150 160 170 180 GALEPETPML PRKPEEDSSS NQSPAATKGP GPLGPGAPPP LLFLNKQKAI DLLYWRDIKQ 190 200 210 220 230 240 TGIVFGSFLL LLFSLTQFSV VSVVAYLALA ALSATISFRI YKSVLQAVQK TDEGHPFKAY 250 260 270 280 290 300 LELEITLSQE QIQKYTDCLQ FYVNSTLKEL RRLFLVQDLV DSLKFAVLMW LLTYVGALFN 310 320 330 340 350 GLTLLLMAVV SMFTLPVVYV KHQAQIDQYL GLVRTHINAV VAKIQAKIPG AKRHAE
	Isoform RTN1-C (NSP-C) [UniParc]. Checksum: 49C5668130635E17	FASTA	208	23,576
	10 20 30 40 50 60 MQATADSTKM DCVWSNWKSQ AIDLLYWRDI KQTGIVFGSF LLLLFSLTQF SVVSVVAYLA 70 80 90 100 110 120 LAALSATISF RIYKSVLQAV QKTDEGHPFK AYLELEITLS QEQIQKYTDC LQFYVNSTLK 130 140 150 160 170 180 ELRRLFLVQD LVDSLKFAVL MWLLTYVGAL FNGLTLLLMA VVSMFTLPVV YVKHQAQIDQ 190 200 YLGLVRTHIN AVVAKIQAKI PGAKRHAE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]	"Neuronal differentiation is accompanied by NSP-C expression." Hens J., Nuydens R., Geerts H., Senden N.H., Van de Ven W.J.M., Roebroek A.J., van de Velde H.J.K., Ramaekers F.C., Broers J.L. Cell Tissue Res. 292:229-237(1998) [PubMed] [Europe PMC] [Abstract] 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]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-487, MASS SPECTROMETRY. Tissue: Platelet.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00003971. IPI00219812. IPI00219813.
PIR	A46583. I60904.
RefSeq	NP_066959.1. NM_021136.2. NP_996734.1. NM_206852.2.
UniGene	Hs.368626.
3D structure databases
ProteinModelPortal	Q16799.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q16799. 4 interactions.
MINT	MINT-154554.
STRING	9606.ENSP00000267484.
PTM databases
PhosphoSite	Q16799.
Polymorphism databases
DMDM	12643733.
Proteomic databases
PaxDb	Q16799.
PRIDE	Q16799.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000267484; ENSP00000267484; ENSG00000139970. ENST00000342503; ENSP00000340716; ENSG00000139970.
GeneID	6252.
KEGG	hsa:6252.
UCSC	uc001xek.2. human. uc001xem.1. human. uc001xen.1. human.
Organism-specific databases
CTD	6252.
GeneCards	GC14M060062.
HGNC	HGNC:10467. RTN1.
HPA	CAB002745.
MIM	600865. gene.
neXtProt	NX_Q16799.
PharmGKB	PA34880.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306139.
HOGENOM	HOG000134444.
HOVERGEN	HBG008971.
InParanoid	Q16799.
OMA	PFLNKQK.
OrthoDB	EOG437RDX.
PhylomeDB	Q16799.
Gene expression databases
ArrayExpress	Q16799.
Bgee	Q16799.
CleanEx	HS_RTN1.
Genevestigator	Q16799.
GermOnline	ENSG00000139970. Homo sapiens.
Family and domain databases
InterPro	IPR003388. Reticulon. [Graphical view]
PANTHER	PTHR10994. PTHR10994. 1 hit.
Pfam	PF02453. Reticulon. 1 hit. [Graphical view]
PROSITE	PS50845. RETICULON. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RTN1. human.
GenomeRNAi	6252.
NextBio	24277.
SOURCE	Search...

Entry information

Entry name

RTN1_HUMAN

Accession

Primary (citable) accession number: Q16799
Secondary accession number(s): Q16800 , Q16801, Q5BKZ4, Q9BQ59

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 109 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.