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Protein

Nucleoredoxin-like protein 2

Gene

NXNL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleoredoxin-like protein 2
Alternative name(s):
Rod-derived cone viability factor 2
Short name:
RdCVF2
Gene namesi
Name:NXNL2
Synonyms:C9orf121
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:30482. NXNL2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162398384.

Polymorphism and mutation databases

BioMutaiNXNL2.
DMDMi74747736.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 156156Nucleoredoxin-like protein 2PRO_0000229735Add
BLAST

Proteomic databases

PaxDbiQ5VZ03.
PRIDEiQ5VZ03.

PTM databases

PhosphoSiteiQ5VZ03.

Expressioni

Gene expression databases

BgeeiQ5VZ03.
CleanExiHS_NXNL2.
ExpressionAtlasiQ5VZ03. baseline and differential.
GenevisibleiQ5VZ03. HS.

Organism-specific databases

HPAiHPA045526.

Interactioni

Protein-protein interaction databases

IntActiQ5VZ03. 1 interaction.
STRINGi9606.ENSP00000365014.

Structurei

3D structure databases

ProteinModelPortaliQ5VZ03.
SMRiQ5VZ03. Positions 10-144.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 147139ThioredoxinAdd
BLAST

Sequence similaritiesi

Belongs to the nucleoredoxin family.Curated
Contains 1 thioredoxin domain.Curated

Phylogenomic databases

eggNOGiKOG2501. Eukaryota.
ENOG410ZIWC. LUCA.
GeneTreeiENSGT00530000063279.
HOGENOMiHOG000259431.
HOVERGENiHBG056831.
InParanoidiQ5VZ03.
KOiK17609.
OMAiDPYRHEL.
OrthoDBiEOG70W3G2.
PhylomeDBiQ5VZ03.
TreeFamiTF331873.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR029519. RdCVF2.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERiPTHR13871:SF24. PTHR13871:SF24. 1 hit.
PfamiPF13905. Thioredoxin_8. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5VZ03-1) [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
MVDILGERHL VTCKGATVEA EAALQNKVVA LYFAAARCAP SRDFTPLLCD
60 70 80 90 100
FYTALVAEAR RPAPFEVVFV SADGSSQEML DFMRELHGAW LALPFHDPYR
110 120 130 140 150
HELRKRYNVT AIPKLVIVKQ NGEVITNKGR KQIRERGLAC FQDWVEAADI

FQNFSV
Note: No experimental confirmation available.
Length:156
Mass (Da):17,614
Last modified:December 7, 2004 - v1
Checksum:iCC391C3B722DC73A
GO
Isoform 2 (identifier: Q5VZ03-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-156: HELRKRYNVT...AADIFQNFSV → QRSLALLPRLECSGVILAHCNLCLLGSSDSLALAS

Note: No experimental confirmation available.
Show »
Length:135
Mass (Da):14,711
Checksum:iB53657054934D114
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761S → C.1 Publication
Corresponds to variant rs17852066 [ dbSNP | Ensembl ].
VAR_025755

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei101 – 15656HELRK…QNFSV → QRSLALLPRLECSGVILAHC NLCLLGSSDSLALAS in isoform 2. 1 PublicationVSP_039844Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL162729, AL592486 Genomic DNA. Translation: CAM14247.1.
AL592486, AL162729 Genomic DNA. Translation: CAM24748.1.
BC022521 mRNA. Translation: AAH22521.1.
CCDSiCCDS55325.1. [Q5VZ03-1]
CCDS6679.1. [Q5VZ03-3]
RefSeqiNP_001155097.1. NM_001161625.1. [Q5VZ03-1]
NP_660326.2. NM_145283.2. [Q5VZ03-3]
UniGeneiHs.734507.

Genome annotation databases

EnsembliENST00000375854; ENSP00000365014; ENSG00000130045. [Q5VZ03-1]
ENST00000375855; ENSP00000365015; ENSG00000130045. [Q5VZ03-3]
GeneIDi158046.
KEGGihsa:158046.
UCSCiuc004aqa.4. human. [Q5VZ03-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL162729, AL592486 Genomic DNA. Translation: CAM14247.1.
AL592486, AL162729 Genomic DNA. Translation: CAM24748.1.
BC022521 mRNA. Translation: AAH22521.1.
CCDSiCCDS55325.1. [Q5VZ03-1]
CCDS6679.1. [Q5VZ03-3]
RefSeqiNP_001155097.1. NM_001161625.1. [Q5VZ03-1]
NP_660326.2. NM_145283.2. [Q5VZ03-3]
UniGeneiHs.734507.

3D structure databases

ProteinModelPortaliQ5VZ03.
SMRiQ5VZ03. Positions 10-144.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ5VZ03. 1 interaction.
STRINGi9606.ENSP00000365014.

PTM databases

PhosphoSiteiQ5VZ03.

Polymorphism and mutation databases

BioMutaiNXNL2.
DMDMi74747736.

Proteomic databases

PaxDbiQ5VZ03.
PRIDEiQ5VZ03.

Protocols and materials databases

DNASUi158046.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375854; ENSP00000365014; ENSG00000130045. [Q5VZ03-1]
ENST00000375855; ENSP00000365015; ENSG00000130045. [Q5VZ03-3]
GeneIDi158046.
KEGGihsa:158046.
UCSCiuc004aqa.4. human. [Q5VZ03-1]

Organism-specific databases

CTDi158046.
GeneCardsiNXNL2.
HGNCiHGNC:30482. NXNL2.
HPAiHPA045526.
MIMi615299. gene.
neXtProtiNX_Q5VZ03.
PharmGKBiPA162398384.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2501. Eukaryota.
ENOG410ZIWC. LUCA.
GeneTreeiENSGT00530000063279.
HOGENOMiHOG000259431.
HOVERGENiHBG056831.
InParanoidiQ5VZ03.
KOiK17609.
OMAiDPYRHEL.
OrthoDBiEOG70W3G2.
PhylomeDBiQ5VZ03.
TreeFamiTF331873.

Miscellaneous databases

GenomeRNAii158046.
NextBioi87606.
PROiQ5VZ03.
SOURCEiSearch...

Gene expression databases

BgeeiQ5VZ03.
CleanExiHS_NXNL2.
ExpressionAtlasiQ5VZ03. baseline and differential.
GenevisibleiQ5VZ03. HS.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR029519. RdCVF2.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PANTHERiPTHR13871:SF24. PTHR13871:SF24. 1 hit.
PfamiPF13905. Thioredoxin_8. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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] (ISOFORM 2), VARIANT CYS-76.
    Tissue: Brain.

Entry informationi

Entry nameiNXNL2_HUMAN
AccessioniPrimary (citable) accession number: Q5VZ03
Secondary accession number(s): B1AMD0, Q8TBG6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: December 7, 2004
Last modified: March 16, 2016
This is version 99 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 9
    Human chromosome 9: 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

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.