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Q8N6Q3

- CD177_HUMAN

UniProt

Q8N6Q3 - CD177_HUMAN

Protein

CD177 antigen

Gene

CD177

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 2 (04 Apr 2006)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. leukocyte migration Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_12051. Cell surface interactions at the vascular wall.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CD177 antigen
    Alternative name(s):
    Human neutrophil alloantigen 2a
    Short name:
    HNA-2a
    NB1 glycoprotein
    Short name:
    NB1 GP
    Polycythemia rubra vera protein 1
    Short name:
    PRV-1
    CD_antigen: CD177
    Gene namesi
    Name:CD177
    Synonyms:NB1, PRV1
    ORF Names:UNQ595/PRO1181
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:30072. CD177.

    Subcellular locationi

    Cell membrane 1 Publication; Lipid-anchorGPI-anchor 1 Publication

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672147.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 21211 PublicationAdd
    BLAST
    Chaini22 – 408387CD177 antigenPRO_0000231643Add
    BLAST
    Propeptidei409 – 43729Removed in mature formSequence AnalysisPRO_0000231644Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi189 – 1891N-linked (GlcNAc...)Sequence Analysis
    Lipidationi408 – 4081GPI-anchor amidated glycineSequence Analysis

    Post-translational modificationi

    N-glycosylated.2 Publications
    A soluble form may also be produced by proteolytic cleavage at the cell surface (shedding).

    Keywords - PTMi

    Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    PaxDbiQ8N6Q3.
    PRIDEiQ8N6Q3.

    Expressioni

    Tissue specificityi

    Highly expressed in normal bone marrow and weakly expressed in fetal liver. Expressed on neutrophils. Expressed in granulocytes of patients with polycythemia vera (PV) and with essential thrombocythemia (ET).2 Publications

    Inductioni

    By CSF3 in resting granulocytes. Induced in patients with polycythemia vera (PV) and with essential thrombocythemia (ET).2 Publications

    Gene expression databases

    ArrayExpressiQ8N6Q3.
    BgeeiQ8N6Q3.
    CleanExiHS_CD177.
    GenevestigatoriQ8N6Q3.

    Interactioni

    Protein-protein interaction databases

    BioGridi121389. 3 interactions.
    IntActiQ8N6Q3. 2 interactions.
    MINTiMINT-1453771.
    STRINGi9606.ENSP00000388794.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N6Q3.
    SMRiQ8N6Q3. Positions 175-203.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini133 – 21078UPAR/Ly6 1Add
    BLAST
    Domaini325 – 37753UPAR/Ly6 2Add
    BLAST

    Sequence similaritiesi

    Contains 2 UPAR/Ly6 domains.Curated

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG75007.
    HOVERGENiHBG081064.
    KOiK06552.
    OMAiSSACICA.
    PhylomeDBiQ8N6Q3.

    Family and domain databases

    InterProiIPR001526. LY6_UPAR.
    [Graphical view]
    PfamiPF00021. UPAR_LY6. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N6Q3-1) [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

    MSAVLLLALL GFILPLPGVQ ALLCQFGTVQ HVWKVSDLPR QWTPKNTSCD    50
    SGLGCQDTLM LIESGPQVSL VLSKGCTEAK DQEPRVTEHR MGPGLSLISY 100
    TFVCRQEDFC NNLVNSLPLW APQPPADPGS LRCPVCLSME GCLEGTTEEI 150
    CPKGTTHCYD GLLRLRGGGI FSNLRVQGCM PQPGCNLLNG TQEIGPVGMT 200
    ENCNRKDFLT CHRGTTIMTH GNLAQEPTDW TTSNTEMCEV GQVCQETLLL 250
    LDVGLTSTLV GTKGCSTVGA QNSQKTTIHS APPGVLVASY THFCSSDLCN 300
    SASSSSVLLN SLPPQAAPVP GDRQCPTCVQ PLGTCSSGSP RMTCPRGATH 350
    CYDGYIHLSG GGLSTKMSIQ GCVAQPSSFL LNHTRQIGIF SAREKRDVQP 400
    PASQHEGGGA EGLESLTWGV GLALAPALWW GVVCPSC 437
    Length:437
    Mass (Da):46,363
    Last modified:April 4, 2006 - v2
    Checksum:i3D4716F221934910
    GO
    Isoform 2 (identifier: Q8N6Q3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         210-248: TCHRGTTIMT...EVGQVCQETL → QLKPVGLLEE...WQKRAATGIF
         249-437: Missing.

    Note: Associated with CD177-negative phenotype.

    Show »
    Length:248
    Mass (Da):27,061
    Checksum:iF39533690DE33364
    GO
    Isoform 3 (identifier: Q8N6Q3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         129-145: GSLRCPVCLSMEGCLEG → MMGAAEGPFGKAEQVDS
         146-437: Missing.

    Note: Associated with CD177-negative phenotype.

    Show »
    Length:145
    Mass (Da):15,683
    Checksum:iB213C498B4DFE92A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 891H → Y in CAC83724. (PubMed:12010833)Curated
    Sequence conflicti184 – 1841G → V in CAC83724. (PubMed:12010833)Curated
    Sequence conflicti194 – 1941I → F in CAC83724. (PubMed:12010833)Curated
    Sequence conflicti204 – 2052NR → DM in CAC83724. (PubMed:12010833)Curated

    Mass spectrometryi

    Molecular mass is 50556 Da from positions 22 - 408. Determined by MALDI. 1 Publication

    Polymorphismi

    There is a significant association between the variants Ala-3, Leu-251 and Thr-348 and a low expression of CD177 on neutrophils.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31A → P.4 Publications
    Corresponds to variant rs45441892 [ dbSNP | Ensembl ].
    VAR_025858
    Natural varianti119 – 1191L → F.2 Publications
    VAR_026156
    Natural varianti251 – 2511L → I.4 Publications
    Corresponds to variant rs10425835 [ dbSNP | Ensembl ].
    VAR_025859
    Natural varianti323 – 3231R → Q.2 Publications
    VAR_026157
    Natural varianti348 – 3481A → T.2 Publications
    Corresponds to variant rs17856829 [ dbSNP | Ensembl ].
    VAR_025860
    Natural varianti379 – 3791F → S.2 Publications
    VAR_026158

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei129 – 14517GSLRC…GCLEG → MMGAAEGPFGKAEQVDS in isoform 3. 1 PublicationVSP_017858Add
    BLAST
    Alternative sequencei146 – 437292Missing in isoform 3. 1 PublicationVSP_017859Add
    BLAST
    Alternative sequencei210 – 24839TCHRG…CQETL → QLKPVGLLEEHNVGEKERGQ GQHQCVQLDWQKRAATGIF in isoform 2. 1 PublicationVSP_017860Add
    BLAST
    Alternative sequencei249 – 437189Missing in isoform 2. 1 PublicationVSP_017861Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF146747 mRNA. Translation: AAG00895.1.
    AJ290452 mRNA. Translation: CAC44459.1.
    AJ305326 mRNA. Translation: CAC83758.1.
    AJ310433 mRNA. Translation: CAC83724.1.
    AY358932 mRNA. Translation: AAQ89291.1.
    BT020111 mRNA. Translation: AAV38914.1.
    BC029167 mRNA. Translation: AAH29167.1.
    CCDSiCCDS62700.1. [Q8N6Q3-1]
    RefSeqiNP_065139.2. NM_020406.3.
    UniGeneiHs.232165.

    Genome annotation databases

    EnsembliENST00000378012; ENSP00000367251; ENSG00000204936. [Q8N6Q3-3]
    GeneIDi57126.
    KEGGihsa:57126.
    UCSCiuc002owi.3. human. [Q8N6Q3-1]
    uc021uvf.1. human. [Q8N6Q3-3]

    Polymorphism databases

    DMDMi91208246.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF146747 mRNA. Translation: AAG00895.1 .
    AJ290452 mRNA. Translation: CAC44459.1 .
    AJ305326 mRNA. Translation: CAC83758.1 .
    AJ310433 mRNA. Translation: CAC83724.1 .
    AY358932 mRNA. Translation: AAQ89291.1 .
    BT020111 mRNA. Translation: AAV38914.1 .
    BC029167 mRNA. Translation: AAH29167.1 .
    CCDSi CCDS62700.1. [Q8N6Q3-1 ]
    RefSeqi NP_065139.2. NM_020406.3.
    UniGenei Hs.232165.

    3D structure databases

    ProteinModelPortali Q8N6Q3.
    SMRi Q8N6Q3. Positions 175-203.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121389. 3 interactions.
    IntActi Q8N6Q3. 2 interactions.
    MINTi MINT-1453771.
    STRINGi 9606.ENSP00000388794.

    Polymorphism databases

    DMDMi 91208246.

    Proteomic databases

    PaxDbi Q8N6Q3.
    PRIDEi Q8N6Q3.

    Protocols and materials databases

    DNASUi 57126.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378012 ; ENSP00000367251 ; ENSG00000204936 . [Q8N6Q3-3 ]
    GeneIDi 57126.
    KEGGi hsa:57126.
    UCSCi uc002owi.3. human. [Q8N6Q3-1 ]
    uc021uvf.1. human. [Q8N6Q3-3 ]

    Organism-specific databases

    CTDi 57126.
    GeneCardsi GC19P043857.
    H-InvDB HIX0017865.
    HGNCi HGNC:30072. CD177.
    MIMi 162860. gene.
    neXtProti NX_Q8N6Q3.
    PharmGKBi PA142672147.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG75007.
    HOVERGENi HBG081064.
    KOi K06552.
    OMAi SSACICA.
    PhylomeDBi Q8N6Q3.

    Enzyme and pathway databases

    Reactomei REACT_12051. Cell surface interactions at the vascular wall.

    Miscellaneous databases

    GeneWikii CD177.
    GenomeRNAii 57126.
    NextBioi 63021.
    PROi Q8N6Q3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N6Q3.
    Bgeei Q8N6Q3.
    CleanExi HS_CD177.
    Genevestigatori Q8N6Q3.

    Family and domain databases

    InterProi IPR001526. LY6_UPAR.
    [Graphical view ]
    Pfami PF00021. UPAR_LY6. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in polycythemia rubra vera."
      Temerinac S., Klippel S., Strunck E., Roeder S., Luebbert M., Lange W., Azemar M., Meinhardt G., Schaefer H.-E., Pahl H.L.
      Blood 95:2569-2576(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-251, TISSUE SPECIFICITY, INDUCTION.
    2. "Molecular basis of the neutrophil glycoprotein NB1 (CD177) involved in the pathogenesis of immunenneutropenia and transfusion reactions."
      Kissel K., Santoso S., Hofmann C., Stroncek D., Bux J.
      Eur. J. Immunol. 31:1301-1309(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 35-45; 167-175 AND 386-393, VARIANTS PRO-3; PHE-119; ILE-251; GLN-323 AND SER-379, MASS SPECTROMETRY, GLYCOSYLATION.
    3. "Molecular basis of NB1 (HNA-2a, CD177) deficiency."
      Kissel K., Scheffler S., Kerowgan M., Bux J.
      Blood 99:4231-4233(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), VARIANT PRO-3.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-251.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-251.
    6. "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 1), VARIANTS PRO-3 AND THR-348.
      Tissue: Colon.
    7. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 22-36.
    8. "Biochemical characterization of PRV-1, a novel hematopoietic cell surface receptor, which is overexpressed in polycythemia rubra vera."
      Klippel S., Strunck E., Busse C.E., Behringer D., Pahl H.L.
      Blood 100:2441-2448(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, SHEDDING.
    9. "Overexpression of the polycythemia rubra vera-1 gene in essential thrombocythemia."
      Teofili L., Martini M., Luongo M., Di Mario A., Leone G., De Stefano V., Larocca L.M.
      J. Clin. Oncol. 20:4249-4254(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION, TISSUE SPECIFICITY.
    10. "Lack of NB1 GP (CD177/HNA-2a) gene transcription in NB1 GP-neutrophils from NB1 GP-expressing individuals and association of low expression with NB1 gene polymorphisms."
      Wolff J., Brendel C., Fink L., Bohle R.M., Kissel K., Bux J.
      Blood 102:731-733(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-348, POLYMORPHISM.
    11. "CD177 polymorphisms: correlation between high-frequency single nucleotide polymorphisms and neutrophil surface protein expression."
      Caruccio L., Walkovich K., Bettinotti M., Schuller R., Stroncek D.
      Transfusion 44:77-82(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PRO-3; PHE-119; GLN-323 AND SER-379.

    Entry informationi

    Entry nameiCD177_HUMAN
    AccessioniPrimary (citable) accession number: Q8N6Q3
    Secondary accession number(s): Q711Q2
    , Q8NCV9, Q96QH1, Q9HDA5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 4, 2006
    Last sequence update: April 4, 2006
    Last modified: October 1, 2014
    This is version 85 of the entry and version 2 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3