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Q9GZU5

- NYX_HUMAN

UniProt

Q9GZU5 - NYX_HUMAN

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Protein

Nyctalopin

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

Functioni

GO - Biological processi

  1. response to stimulus Source: UniProtKB-KW
  2. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Nyctalopin
Gene namesi
Name:NYX
Synonyms:CLRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:8082. NYX.

Subcellular locationi

GO - Cellular componenti

  1. intracellular Source: UniProtKB
  2. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 368Missing in CSNB1A.
VAR_014084
Natural varianti31 – 311C → S in CSNB1A. 1 Publication
VAR_013867
Natural varianti101 – 1011Missing in CSNB1A. 1 Publication
VAR_014085
Natural varianti114 – 1185Missing in CSNB1A.
VAR_014086
Natural varianti143 – 1431A → P in CSNB1A. 1 Publication
VAR_013868
Natural varianti151 – 1511P → L in CSNB1A. 1 Publication
VAR_013869
Natural varianti155 – 1551L → LSVPERLL in CSNB1A.
VAR_014087
Natural varianti175 – 1751P → R in CSNB1A. 1 Publication
VAR_013870
Natural varianti184 – 1841L → P in CSNB1A. 1 Publication
VAR_013871
Natural varianti187 – 1871A → K in CSNB1A; requires 2 nucleotide substitutions. 1 Publication
VAR_013872
Natural varianti207 – 2071R → RLLR in CSNB1A.
VAR_014088
Natural varianti209 – 2091R → RCLR in CSNB1A.
VAR_014089
Natural varianti213 – 2131L → Q in CSNB1A. 1 Publication
VAR_013873
Natural varianti216 – 2161N → S in CSNB1A. 1 Publication
VAR_013874
Natural varianti232 – 2321L → P in CSNB1A. 1 Publication
VAR_013875
Natural varianti243 – 2464Missing in CSNB1A.
VAR_014090
Natural varianti264 – 2641N → K in CSNB1A. 1 Publication
VAR_013876
Natural varianti285 – 2851L → P in CSNB1A. 1 Publication
VAR_013877
Natural varianti298 – 2981F → S in CSNB1A. 1 Publication
VAR_013878
Natural varianti307 – 3071L → P in CSNB1A. 1 Publication
VAR_013879
Natural varianti312 – 3121N → S in CSNB1A. 1 Publication
VAR_013880
Natural varianti347 – 3471L → P in CSNB1A. 1 Publication
VAR_013881
Natural varianti370 – 3701G → V in CSNB1A. 1 Publication
VAR_013882

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

MIMi310500. phenotype.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA31871.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed predictionAdd
BLAST
Chaini24 – 481458NyctalopinPRO_0000032776Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi97 – 971N-linked (GlcNAc...) Reviewed prediction
Glycosylationi183 – 1831N-linked (GlcNAc...) Reviewed prediction
Glycosylationi300 – 3001N-linked (GlcNAc...) Reviewed prediction
Glycosylationi393 – 3931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi432 – 4321N-linked (GlcNAc...) Reviewed prediction
Glycosylationi439 – 4391N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein, Proteoglycan

Proteomic databases

PaxDbiQ9GZU5.
PRIDEiQ9GZU5.

PTM databases

PhosphoSiteiQ9GZU5.

Expressioni

Tissue specificityi

Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.2 Publications

Gene expression databases

BgeeiQ9GZU5.
CleanExiHS_NYX.
GenevestigatoriQ9GZU5.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000340328.

Structurei

3D structure databases

ProteinModelPortaliQ9GZU5.
SMRiQ9GZU5. Positions 30-395.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 6239LRRNTAdd
BLAST
Repeati63 – 8422LRR 1Add
BLAST
Repeati87 – 10822LRR 2Add
BLAST
Repeati111 – 13020LRR 3Add
BLAST
Repeati136 – 15924LRR 4Add
BLAST
Repeati160 – 18223LRR 5Add
BLAST
Repeati183 – 20422LRR 6Add
BLAST
Repeati207 – 22822LRR 7Add
BLAST
Repeati231 – 25222LRR 8Add
BLAST
Repeati255 – 27622LRR 9Add
BLAST
Repeati279 – 30022LRR 10Add
BLAST
Repeati303 – 32422LRR 11Add
BLAST
Domaini336 – 38853LRRCTAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi27 – 4822Cys-richAdd
BLAST

Sequence similaritiesi

Contains 1 LRRCT domain.
Contains 1 LRRNT domain.

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiNOG328516.
HOGENOMiHOG000230477.
HOVERGENiHBG031762.
InParanoidiQ9GZU5.
KOiK08129.
OMAiNISFITP.
OrthoDBiEOG77HDF9.
PhylomeDBiQ9GZU5.
TreeFamiTF337463.

Family and domain databases

InterProiIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 3 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9GZU5-1 [UniParc]FASTAAdd to Basket

« Hide

MKGRGMLVLL LHAVVLGLPS AWAVGACARA CPAACACSTV ERGCSVRCDR    50
AGLLRVPAEL PCEAVSIDLD RNGLRFLGER AFGTLPSLRR LSLRHNNLSF 100
ITPGAFKGLP RLAELRLAHN GDLRYLHART FAALSRLRRL DLAACRLFSV 150
PERLLAELPA LRELAAFDNL FRRVPGALRG LANLTHAHLE RGRIEAVASS 200
SLQGLRRLRS LSLQANRVRA VHAGAFGDCG VLEHLLLNDN LLAELPADAF 250
RGLRRLRTLN LGGNALDRVA RAWFADLAEL ELLYLDRNSI AFVEEGAFQN 300
LSGLLALHLN GNRLTVLAWV AFQPGFFLGR LFLFRNPWCC DCRLEWLRDW 350
MEGSGRVTDV PCASPGSVAG LDLSQVTFGR SSDGLCVDPE ELNLTTSSPG 400
PSPEPAATTV SRFSSLLSKL LAPRVPVEEA ANTTGGLANA SLSDSLSSRG 450
VGGAGRQPWF LLASCLLPSV AQHVVFGLQM D 481
Length:481
Mass (Da):52,000
Last modified:March 1, 2001 - v1
Checksum:i77855134DC564515
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 368Missing in CSNB1A.
VAR_014084
Natural varianti31 – 311C → S in CSNB1A. 1 Publication
VAR_013867
Natural varianti101 – 1011Missing in CSNB1A. 1 Publication
VAR_014085
Natural varianti114 – 1185Missing in CSNB1A.
VAR_014086
Natural varianti143 – 1431A → P in CSNB1A. 1 Publication
VAR_013868
Natural varianti151 – 1511P → L in CSNB1A. 1 Publication
VAR_013869
Natural varianti155 – 1551L → LSVPERLL in CSNB1A.
VAR_014087
Natural varianti175 – 1751P → R in CSNB1A. 1 Publication
VAR_013870
Natural varianti184 – 1841L → P in CSNB1A. 1 Publication
VAR_013871
Natural varianti187 – 1871A → K in CSNB1A; requires 2 nucleotide substitutions. 1 Publication
VAR_013872
Natural varianti207 – 2071R → RLLR in CSNB1A.
VAR_014088
Natural varianti209 – 2091R → RCLR in CSNB1A.
VAR_014089
Natural varianti213 – 2131L → Q in CSNB1A. 1 Publication
VAR_013873
Natural varianti216 – 2161N → S in CSNB1A. 1 Publication
VAR_013874
Natural varianti232 – 2321L → P in CSNB1A. 1 Publication
VAR_013875
Natural varianti243 – 2464Missing in CSNB1A.
VAR_014090
Natural varianti264 – 2641N → K in CSNB1A. 1 Publication
VAR_013876
Natural varianti285 – 2851L → P in CSNB1A. 1 Publication
VAR_013877
Natural varianti298 – 2981F → S in CSNB1A. 1 Publication
VAR_013878
Natural varianti307 – 3071L → P in CSNB1A. 1 Publication
VAR_013879
Natural varianti312 – 3121N → S in CSNB1A. 1 Publication
VAR_013880
Natural varianti347 – 3471L → P in CSNB1A. 1 Publication
VAR_013881
Natural varianti370 – 3701G → V in CSNB1A. 1 Publication
VAR_013882
Natural varianti406 – 4061A → G.
Corresponds to variant rs34169326 [ dbSNP | Ensembl ].
VAR_052020

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ278865 mRNA. Translation: CAC19014.1.
AF254868 mRNA. Translation: AAG42685.1.
Z93015 Genomic DNA. Translation: CAI42364.1.
CH471141 Genomic DNA. Translation: EAW59399.1.
CH471141 Genomic DNA. Translation: EAW59401.1.
BC112242 mRNA. Translation: AAI12243.1.
CCDSiCCDS14256.1.
RefSeqiNP_072089.1. NM_022567.2.
XP_005272689.1. XM_005272632.1.
UniGeneiHs.302019.

Genome annotation databases

EnsembliENST00000342595; ENSP00000340328; ENSG00000188937.
ENST00000378220; ENSP00000367465; ENSG00000188937.
GeneIDi60506.
KEGGihsa:60506.
UCSCiuc004dfh.2. human.

Polymorphism databases

DMDMi23396778.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the NYX gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ278865 mRNA. Translation: CAC19014.1 .
AF254868 mRNA. Translation: AAG42685.1 .
Z93015 Genomic DNA. Translation: CAI42364.1 .
CH471141 Genomic DNA. Translation: EAW59399.1 .
CH471141 Genomic DNA. Translation: EAW59401.1 .
BC112242 mRNA. Translation: AAI12243.1 .
CCDSi CCDS14256.1.
RefSeqi NP_072089.1. NM_022567.2.
XP_005272689.1. XM_005272632.1.
UniGenei Hs.302019.

3D structure databases

ProteinModelPortali Q9GZU5.
SMRi Q9GZU5. Positions 30-395.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000340328.

PTM databases

PhosphoSitei Q9GZU5.

Polymorphism databases

DMDMi 23396778.

Proteomic databases

PaxDbi Q9GZU5.
PRIDEi Q9GZU5.

Protocols and materials databases

DNASUi 60506.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342595 ; ENSP00000340328 ; ENSG00000188937 .
ENST00000378220 ; ENSP00000367465 ; ENSG00000188937 .
GeneIDi 60506.
KEGGi hsa:60506.
UCSCi uc004dfh.2. human.

Organism-specific databases

CTDi 60506.
GeneCardsi GC0XP041306.
GeneReviewsi NYX.
HGNCi HGNC:8082. NYX.
MIMi 300278. gene.
310500. phenotype.
neXtProti NX_Q9GZU5.
Orphaneti 215. Congenital stationary night blindness.
PharmGKBi PA31871.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG328516.
HOGENOMi HOG000230477.
HOVERGENi HBG031762.
InParanoidi Q9GZU5.
KOi K08129.
OMAi NISFITP.
OrthoDBi EOG77HDF9.
PhylomeDBi Q9GZU5.
TreeFami TF337463.

Miscellaneous databases

GeneWikii Nyctalopin.
GenomeRNAii 60506.
NextBioi 65415.
PROi Q9GZU5.
SOURCEi Search...

Gene expression databases

Bgeei Q9GZU5.
CleanExi HS_NYX.
Genevestigatori Q9GZU5.

Family and domain databases

InterProi IPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view ]
Pfami PF13855. LRR_8. 3 hits.
PF01462. LRRNT. 1 hit.
[Graphical view ]
SMARTi SM00369. LRR_TYP. 3 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein."
    Pusch C.M., Zeitz C., Brandau O., Pesch K., Achatz H., Feil S., Scharfe C., Maurer J., Jacobi F.K., Pinckers A., Andreasson S., Hardcastle A., Wissinger B., Berger W., Meindl A.
    Nat. Genet. 26:324-327(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS CSNB1A SER-31; ILE-101 DEL; 114-GLU--ALA-118 DEL; PRO-143; ARG-175; LYS-187; 207-LEU-LEU-ARG INS; 243-ALA--PRO-246 DEL; PRO-307; SER-312; PRO-347 AND VAL-370.
  2. "Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness."
    Bech-Hansen N.T., Naylor M.J., Maybaum T.A., Sparkes R.L., Koop B., Birch D.G., Bergen A.A.B., Prinsen C.F.M., Polomeno R.C., Gal A., Drack A.V., Musarella M.A., Jacobson S.G., Young R.S.L., Weleber R.G.
    Nat. Genet. 26:319-323(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS CSNB1A 29-ARG--ALA-36 DEL; LEU-151; 155-SER-VAL-PRO-GLU-ARG-LEU-LEU INS; PRO-184; 207-LEU-LEU-ARG INS; 209-CYS-LEU-ARG INS; GLN-213; SER-216; PRO-232; LYS-264; PRO-285 AND SER-298.
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
    Tissue: Brain.

Entry informationi

Entry nameiNYX_HUMAN
AccessioniPrimary (citable) accession number: Q9GZU5
Secondary accession number(s): D3DWC0
, Q2M1S4, Q5H983, Q9H4J0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 111 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 X
    Human chromosome X: 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

Similar proteinsi