Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9GZU5

- NYX_HUMAN

UniProt

Q9GZU5 - NYX_HUMAN

Protein

Nyctalopin

Gene

NYX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    GO - Biological processi

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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 481458NyctalopinPRO_0000032776Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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 11 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRCT domain.Curated
    Contains 1 LRRNT domain.Curated

    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

    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: October 1, 2014
    This is version 112 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