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Q96PL5

- ERMAP_HUMAN

UniProt

Q96PL5 - ERMAP_HUMAN

Protein

Erythroid membrane-associated protein

Gene

ERMAP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Possible role as a cell-adhesion or receptor molecule of erythroid cells.

    Keywords - Molecular functioni

    Blood group antigen

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Erythroid membrane-associated protein
    Short name:
    hERMAP
    Alternative name(s):
    Radin blood group antigen
    Scianna blood group antigen
    Gene namesi
    Name:ERMAP
    Synonyms:RD, SC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:15743. ERMAP.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasmic vesicle Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi111620. phenotype.
    111750. phenotype.
    PharmGKBiPA27860.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929Sequence AnalysisAdd
    BLAST
    Chaini30 – 475446Erythroid membrane-associated proteinPRO_0000226088Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi50 ↔ 126PROSITE-ProRule annotation
    Glycosylationi132 – 1321N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Glycosylated.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ96PL5.
    PaxDbiQ96PL5.
    PRIDEiQ96PL5.

    PTM databases

    PhosphoSiteiQ96PL5.

    Expressioni

    Tissue specificityi

    Expressed in erythroid-enriched bone marrow (at protein level). Highly expressed in bone marrow and to a lower extent in leukocytes, thymus, lymph node and spleen.2 Publications

    Developmental stagei

    Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver.2 Publications

    Gene expression databases

    ArrayExpressiQ96PL5.
    BgeeiQ96PL5.
    CleanExiHS_ERMAP.
    GenevestigatoriQ96PL5.

    Organism-specific databases

    HPAiHPA042573.

    Interactioni

    Protein-protein interaction databases

    BioGridi125328. 2 interactions.
    STRINGi9606.ENSP00000361592.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96PL5.
    SMRiQ96PL5. Positions 40-146, 233-412.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 155126ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini177 – 475299CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei156 – 17621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 140111Ig-like V-typeAdd
    BLAST
    Domaini220 – 418199B30.2/SPRYPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG320971.
    HOVERGENiHBG050747.
    InParanoidiQ96PL5.
    KOiK06712.
    OMAiCLIWKQR.
    OrthoDBiEOG7PCJGJ.
    PhylomeDBiQ96PL5.
    TreeFamiTF317532.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    IPR006574. PRY.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    [Graphical view]
    PfamiPF13765. PRY. 1 hit.
    PF00622. SPRY. 1 hit.
    PF07686. V-set. 1 hit.
    [Graphical view]
    PRINTSiPR01407. BUTYPHLNCDUF.
    SMARTiSM00409. IG. 1 hit.
    SM00589. PRY. 1 hit.
    SM00449. SPRY. 1 hit.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 1 hit.
    PROSITEiPS50188. B302_SPRY. 1 hit.
    PS50835. IG_LIKE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q96PL5-1 [UniParc]FASTAAdd to Basket

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    MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC    50
    PLSLWPGTVP KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL 100
    VRDAQEGSVT LQILDVRLED QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS 150
    LSPSAVALAV ILPVLVLLIM VCLCLIWKQR RAKEKLLYEH VTEVDNLLSD 200
    HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV TLDPDTAHPK 250
    LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG 300
    DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR 350
    LKEPPRCVGI FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH 400
    DGGKNTAPLV ICSELHKSEE SIVPRPEGKG HANGDVSLKV NSSLLPPKAP 450
    ELKDIILSLP PDLGPALQEL KAPSF 475
    Length:475
    Mass (Da):52,605
    Last modified:December 1, 2001 - v1
    Checksum:iD796B0951EA02E0F
    GO

    Sequence cautioni

    The sequence CAH72716.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti452 – 4521L → P in CAD97613. (PubMed:17974005)Curated

    Polymorphismi

    ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens. The Sc1 and Sc2 antigens are resulting from a single variation in position 57; Arg-57 corresponds to the Sc2 antigen and Gly-57 to the Sc1 antigen. The Sc2 antigen is rare with an occurrence of less than 1% in the population while Sc1 is more frequent. Sc3 is not expressed by individuals homozygous for a null allele encoding a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponding to the previously defined Radin blood group antigen (Rd) is due to a single variation in position 60; Ala-60 corresponds to Sc4/Rd+, the antigenic form of the protein. Sc4 is found in less than 1% of the population. Sc5/STAR, Sc6/SCER and Sc7/SCAN antigens are due to single variations in positions 47, 81 and 35 respectively. Alloantibodies to the low frequency Sc2 and Sc4 antigens are the cause of hemolytic disease in the newborn.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41A → V.1 Publication
    Corresponds to variant rs35757049 [ dbSNP | Ensembl ].
    VAR_025478
    Natural varianti26 – 261H → Y.2 Publications
    Corresponds to variant rs33953680 [ dbSNP | Ensembl ].
    VAR_025479
    Natural varianti35 – 351G → S in Sc7 antigen. 1 Publication
    Corresponds to variant rs146429994 [ dbSNP | Ensembl ].
    VAR_025480
    Natural varianti47 – 471E → K in Sc5 antigen. 1 Publication
    Corresponds to variant rs56047316 [ dbSNP | Ensembl ].
    VAR_025481
    Natural varianti57 – 571G → R in Sc2 antigen. 1 Publication
    Corresponds to variant rs56025238 [ dbSNP | Ensembl ].
    VAR_025482
    Natural varianti60 – 601P → A in Sc4 antigen. 1 Publication
    Corresponds to variant rs56136737 [ dbSNP | Ensembl ].
    VAR_025483
    Natural varianti81 – 811R → Q in Sc6 antigen. 1 Publication
    VAR_025484
    Natural varianti103 – 11311DAQEGSVTLQI → CPRGKCHSADP in Sc-3 allele.
    VAR_025485Add
    BLAST
    Natural varianti114 – 475362Missing in Sc-3 allele.
    VAR_025486Add
    BLAST
    Natural varianti259 – 2591C → R.1 Publication
    Corresponds to variant rs35147822 [ dbSNP | Ensembl ].
    VAR_025487
    Natural varianti263 – 2631G → E.1 Publication
    Corresponds to variant rs34441268 [ dbSNP | Ensembl ].
    VAR_025488

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY049028 mRNA. Translation: AAL11456.1.
    AF311284 mRNA. Translation: AAL08411.1.
    AF311285 mRNA. Translation: AAL08412.1.
    AJ505028 Genomic DNA. Translation: CAD43739.1.
    AJ505036
    , AJ505037, AJ505038, AJ505039, AJ505040, AJ505041, AJ505042 Genomic DNA. Translation: CAD43740.1.
    AJ505044
    , AJ505045, AJ505046, AJ505047, AJ505048, AJ505049, AJ505050 Genomic DNA. Translation: CAD43741.1.
    BX537371 mRNA. Translation: CAD97613.2.
    DQ090843 Genomic DNA. Translation: AAY88736.1.
    AL512353 Genomic DNA. Translation: CAH72715.1.
    AL512353 Genomic DNA. Translation: CAH72716.1. Sequence problems.
    CH471059 Genomic DNA. Translation: EAX07130.1.
    CH471059 Genomic DNA. Translation: EAX07133.1.
    BC099703 mRNA. Translation: AAH99703.1.
    BC099707 mRNA. Translation: AAH99707.1.
    BC099712 mRNA. Translation: AAH99712.1.
    BC099713 mRNA. Translation: AAH99713.1.
    AY644424 Genomic DNA. Translation: AAT66409.1.
    CCDSiCCDS475.1.
    RefSeqiNP_001017922.1. NM_001017922.1.
    NP_061008.2. NM_018538.3.
    XP_006710376.1. XM_006710313.1.
    UniGeneiHs.439437.

    Genome annotation databases

    EnsembliENST00000372514; ENSP00000361592; ENSG00000164010.
    ENST00000372517; ENSP00000361595; ENSG00000164010.
    GeneIDi114625.
    KEGGihsa:114625.
    UCSCiuc001cic.1. human.

    Polymorphism databases

    DMDMi74761033.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    dbRBC/BGMUT

    Blood group antigen gene mutation database

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY049028 mRNA. Translation: AAL11456.1 .
    AF311284 mRNA. Translation: AAL08411.1 .
    AF311285 mRNA. Translation: AAL08412.1 .
    AJ505028 Genomic DNA. Translation: CAD43739.1 .
    AJ505036
    , AJ505037 , AJ505038 , AJ505039 , AJ505040 , AJ505041 , AJ505042 Genomic DNA. Translation: CAD43740.1 .
    AJ505044
    , AJ505045 , AJ505046 , AJ505047 , AJ505048 , AJ505049 , AJ505050 Genomic DNA. Translation: CAD43741.1 .
    BX537371 mRNA. Translation: CAD97613.2 .
    DQ090843 Genomic DNA. Translation: AAY88736.1 .
    AL512353 Genomic DNA. Translation: CAH72715.1 .
    AL512353 Genomic DNA. Translation: CAH72716.1 . Sequence problems.
    CH471059 Genomic DNA. Translation: EAX07130.1 .
    CH471059 Genomic DNA. Translation: EAX07133.1 .
    BC099703 mRNA. Translation: AAH99703.1 .
    BC099707 mRNA. Translation: AAH99707.1 .
    BC099712 mRNA. Translation: AAH99712.1 .
    BC099713 mRNA. Translation: AAH99713.1 .
    AY644424 Genomic DNA. Translation: AAT66409.1 .
    CCDSi CCDS475.1.
    RefSeqi NP_001017922.1. NM_001017922.1.
    NP_061008.2. NM_018538.3.
    XP_006710376.1. XM_006710313.1.
    UniGenei Hs.439437.

    3D structure databases

    ProteinModelPortali Q96PL5.
    SMRi Q96PL5. Positions 40-146, 233-412.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125328. 2 interactions.
    STRINGi 9606.ENSP00000361592.

    PTM databases

    PhosphoSitei Q96PL5.

    Polymorphism databases

    DMDMi 74761033.

    Proteomic databases

    MaxQBi Q96PL5.
    PaxDbi Q96PL5.
    PRIDEi Q96PL5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372514 ; ENSP00000361592 ; ENSG00000164010 .
    ENST00000372517 ; ENSP00000361595 ; ENSG00000164010 .
    GeneIDi 114625.
    KEGGi hsa:114625.
    UCSCi uc001cic.1. human.

    Organism-specific databases

    CTDi 114625.
    GeneCardsi GC01P043256.
    HGNCi HGNC:15743. ERMAP.
    HPAi HPA042573.
    MIMi 111620. phenotype.
    111750. phenotype.
    609017. gene.
    neXtProti NX_Q96PL5.
    PharmGKBi PA27860.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320971.
    HOVERGENi HBG050747.
    InParanoidi Q96PL5.
    KOi K06712.
    OMAi CLIWKQR.
    OrthoDBi EOG7PCJGJ.
    PhylomeDBi Q96PL5.
    TreeFami TF317532.

    Miscellaneous databases

    GeneWikii ERMAP.
    GenomeRNAii 114625.
    NextBioi 79109.
    PROi Q96PL5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96PL5.
    Bgeei Q96PL5.
    CleanExi HS_ERMAP.
    Genevestigatori Q96PL5.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    IPR006574. PRY.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    [Graphical view ]
    Pfami PF13765. PRY. 1 hit.
    PF00622. SPRY. 1 hit.
    PF07686. V-set. 1 hit.
    [Graphical view ]
    PRINTSi PR01407. BUTYPHLNCDUF.
    SMARTi SM00409. IG. 1 hit.
    SM00589. PRY. 1 hit.
    SM00449. SPRY. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49899. SSF49899. 1 hit.
    PROSITEi PS50188. B302_SPRY. 1 hit.
    PS50835. IG_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human ERMAP: an erythroid adhesion/receptor transmembrane protein."
      Su Y.-Y., Gordon C.T., Ye T.-Z., Perkins A.C., Chui D.H.K.
      Blood Cells Mol. Dis. 27:938-949(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION.
      Tissue: Fetal liver.
    2. "Cloning and characterization of human erythroid membrane-associated protein, human ERMAP."
      Xu H., Foltz L., Sha Y., Madlansacay M.R., Cain C., Lindemann G., Vargas J., Nagy D., Harriman B., Mahoney W., Schueler P.A.
      Genomics 76:2-4(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION.
      Tissue: Fetal liver.
    3. "Scianna antigens including Rd are expressed by ERMAP."
      Wagner F.F., Poole J., Flegel W.A.
      Blood 101:752-757(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE SC-3), VARIANTS BLOOD GROUP SC2 ARG-57 AND SC4 ALA-60, VARIANT TYR-26.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Uterus.
    5. SeattleSNPs variation discovery resource
      Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-4; TYR-26; ARG-259 AND GLU-263.
    6. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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].
    9. "STAR: a novel high-prevalence antigen in the Scianna blood group system."
      Hue-Roye K., Chaudhuri A., Velliquette R.W., Fetics S., Thomas R., Balk M., Wagner F.F., Flegel W.A., Reid M.E.
      Transfusion 45:245-247(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-144, VARIANT BLOOD GROUP SC5 LYS-47.
    10. "SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system."
      Flegel W.A., Chen Q., Reid M.E., Martin J., Orsini L.A., Poole J., Moulds M.K., Wagner F.F.
      Transfusion 45:1940-1944(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BLOOD GROUP SC7 SER-35 AND SC6 GLN-81.

    Entry informationi

    Entry nameiERMAP_HUMAN
    AccessioniPrimary (citable) accession number: Q96PL5
    Secondary accession number(s): D3DPW8
    , Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 114 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. Blood group antigen proteins
      Nomenclature of blood group antigens and list of entries
    2. Human chromosome 1
      Human chromosome 1: 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