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Q8NFM7

- I17RD_HUMAN

UniProt

Q8NFM7 - I17RD_HUMAN

Protein

Interleukin-17 receptor D

Gene

IL17RD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 3 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons By similarity.By similarity

    GO - Biological processi

    1. signal transduction Source: InterPro

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_9470. Signaling by FGFR.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Interleukin-17 receptor D
    Short name:
    IL-17 receptor D
    Short name:
    IL-17RD
    Alternative name(s):
    IL17Rhom
    Interleukin-17 receptor-like protein
    Sef homolog
    Short name:
    hSef
    Gene namesi
    Name:IL17RD
    Synonyms:IL17RLM, SEF
    ORF Names:UNQ6115/PRO20026
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:17616. IL17RD.

    Subcellular locationi

    Golgi apparatus membrane 1 Publication; Single-pass type I membrane protein 1 Publication. Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
    Note: Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.

    GO - Cellular componenti

    1. Golgi apparatus Source: HPA
    2. Golgi membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. nucleus Source: HPA
    5. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).1 Publication
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in IL17RD also have a heterozygous mutation in another HH-associated gene including FGFR1 and KISS1R (PubMed:23643382).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311K → T in HH18; results in decreased expression at the cell surface and reduced activity. 1 Publication
    Corresponds to variant rs184758350 [ dbSNP | Ensembl ].
    VAR_069936
    Natural varianti162 – 1621K → R in HH18; results in decreased expression at the cell surface. 1 Publication
    VAR_069937
    Natural varianti306 – 3061P → S in HH18; reduced activity. 1 Publication
    VAR_069938
    Natural varianti379 – 3791Y → C in HH18; rare variant associated with susceptibility to disease; some patients have a second mutation in the HH-associated gene FGFR1; reduced activity. 1 Publication
    Corresponds to variant rs369641068 [ dbSNP | Ensembl ].
    VAR_069939
    Natural varianti468 – 4681S → L in HH18; reduced activity. 1 Publication
    VAR_069940
    Natural varianti577 – 5771P → Q in HH18; reduced activity. 1 Publication
    VAR_069941
    Natural varianti735 – 7351A → V in HH18; rare variant associated with susceptibility to disease; the patient carries a second mutation in the HH-associated gene KISS1R; results in decreased expression at the cell surface. 1 Publication
    VAR_069942

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

    Organism-specific databases

    MIMi615267. phenotype.
    Orphaneti478. Kallmann syndrome.
    PharmGKBiPA134993407.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Chaini17 – 739723Interleukin-17 receptor DPRO_0000041871Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi19 – 191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi55 – 551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi62 – 621N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi80 – 801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi137 – 1371N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi171 – 1711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi277 – 2771N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8NFM7.
    PRIDEiQ8NFM7.

    PTM databases

    PhosphoSiteiQ8NFM7.

    Expressioni

    Tissue specificityi

    Expressed in umbilical vein endothelial cells and in several highly vascularized tissues such as kidney, colon, skeletal muscle, heart and small intestine. Highly expressed in ductal epithelial cells of salivary glands, seminal vesicles and the collecting tubules of the kidney. Isoform 1 is also highly expressed in both fetal and adult brain, pituitary, tonsils, spleen, adenoids, fetal kidney, liver, testes and ovary. Isoform 1 is also expressed at moderate levels in primary aortic endothelial cells and adrenal medulla, and at low levels in adrenal cortex. Isoform 4 is specifically and highly expressed in pituitary, fetal brain and umbilical vein endothelial cells.1 Publication

    Gene expression databases

    ArrayExpressiQ8NFM7.
    BgeeiQ8NFM7.
    CleanExiHS_IL17RD.
    GenevestigatoriQ8NFM7.

    Organism-specific databases

    HPAiHPA039577.
    HPA043550.

    Interactioni

    Subunit structurei

    Interacts with MAP3K7 By similarity. Self-associates. Interacts with FGFR1, FGFR2 and phosphorylated MAP2K1 or MAP2K2. Associates with a MAP2K1/2-MAPK1/3 complex.By similarity3 Publications

    Protein-protein interaction databases

    BioGridi120132. 1 interaction.
    STRINGi9606.ENSP00000296318.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFM7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini17 – 299283ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini321 – 739419CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei300 – 32021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini355 – 509155SEFIRPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi695 – 7006Poly-Ser

    Sequence similaritiesi

    Contains 1 SEFIR domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45649.
    HOVERGENiHBG081777.
    InParanoidiQ8NFM7.
    KOiK05167.
    OMAiSTKYKLM.
    OrthoDBiEOG7P8P7V.
    PhylomeDBiQ8NFM7.
    TreeFamiTF329644.

    Family and domain databases

    InterProiIPR013568. SEFIR.
    IPR000157. TIR_dom.
    [Graphical view]
    PfamiPF08357. SEFIR. 1 hit.
    [Graphical view]
    SUPFAMiSSF52200. SSF52200. 1 hit.
    PROSITEiPS51534. SEFIR. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NFM7-1) [UniParc]FASTAAdd to Basket

    Also known as: hSef-a, IL17RLM-L, Long

    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

    MAPWLQLCSV FFTVNACLNG SQLAVAAGGS GRARGADTCG WRGVGPASRN    50
    SGLYNITFKY DNCTTYLNPV GKHVIADAQN ITISQYACHD QVAVTILWSP 100
    GALGIEFLKG FRVILEELKS EGRQCQQLIL KDPKQLNSSF KRTGMESQPF 150
    LNMKFETDYF VKVVPFPSIK NESNYHPFFF RTRACDLLLQ PDNLACKPFW 200
    KPRNLNISQH GSDMQVSFDH APHNFGFRFF YLHYKLKHEG PFKRKTCKQE 250
    QTTETTSCLL QNVSPGDYII ELVDDTNTTR KVMHYALKPV HSPWAGPIRA 300
    VAITVPLVVI SAFATLFTVM CRKKQQENIY SHLDEESSES STYTAALPRE 350
    RLRPRPKVFL CYSSKDGQNH MNVVQCFAYF LQDFCGCEVA LDLWEDFSLC 400
    REGQREWVIQ KIHESQFIIV VCSKGMKYFV DKKNYKHKGG GRGSGKGELF 450
    LVAVSAIAEK LRQAKQSSSA ALSKFIAVYF DYSCEGDVPG ILDLSTKYRL 500
    MDNLPQLCSH LHSRDHGLQE PGQHTRQGSR RNYFRSKSGR SLYVAICNMH 550
    QFIDEEPDWF EKQFVPFHPP PLRYREPVLE KFDSGLVLND VMCKPGPESD 600
    FCLKVEAAVL GATGPADSQH ESQHGGLDQD GEARPALDGS AALQPLLHTV 650
    KAGSPSDMPR DSGIYDSSVP SSELSLPLME GLSTDQTETS SLTESVSSSS 700
    GLGEEEPPAL PSKLLSSGSC KADLGCRSYT DELHAVAPL 739
    Length:739
    Mass (Da):82,411
    Last modified:February 20, 2007 - v3
    Checksum:i7A2B45818DBD6E44
    GO
    Isoform 2 (identifier: Q8NFM7-2) [UniParc]FASTAAdd to Basket

    Also known as: "IL17RLM-S, Short

    The sequence of this isoform differs from the canonical sequence as follows:
         1-144: Missing.

    Show »
    Length:595
    Mass (Da):66,817
    Checksum:i12307ED8AA4B4041
    GO
    Isoform 3 (identifier: Q8NFM7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-42: MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWR → MPRASASGVPALFVSGEQ

    Show »
    Length:715
    Mass (Da):79,871
    Checksum:i27564B1A6F365EF6
    GO
    Isoform 4 (identifier: Q8NFM7-4) [UniParc]FASTAAdd to Basket

    Also known as: hSef-b

    The sequence of this isoform differs from the canonical sequence as follows:
         1-42: MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWR → MDYRQSWPWQ

    Show »
    Length:707
    Mass (Da):79,463
    Checksum:i116027A2BD48902D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti223 – 2231H → HGSDMQVSFDHAPH in CAB61408. (PubMed:12975309)Curated
    Sequence conflicti248 – 2481K → E in AAM74077. (PubMed:12958313)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311K → T in HH18; results in decreased expression at the cell surface and reduced activity. 1 Publication
    Corresponds to variant rs184758350 [ dbSNP | Ensembl ].
    VAR_069936
    Natural varianti162 – 1621K → R in HH18; results in decreased expression at the cell surface. 1 Publication
    VAR_069937
    Natural varianti255 – 2551T → M.6 Publications
    Corresponds to variant rs6780995 [ dbSNP | Ensembl ].
    VAR_023478
    Natural varianti301 – 3011V → M.
    Corresponds to variant rs17057718 [ dbSNP | Ensembl ].
    VAR_023479
    Natural varianti306 – 3061P → S in HH18; reduced activity. 1 Publication
    VAR_069938
    Natural varianti379 – 3791Y → C in HH18; rare variant associated with susceptibility to disease; some patients have a second mutation in the HH-associated gene FGFR1; reduced activity. 1 Publication
    Corresponds to variant rs369641068 [ dbSNP | Ensembl ].
    VAR_069939
    Natural varianti468 – 4681S → L in HH18; reduced activity. 1 Publication
    VAR_069940
    Natural varianti577 – 5771P → Q in HH18; reduced activity. 1 Publication
    VAR_069941
    Natural varianti735 – 7351A → V in HH18; rare variant associated with susceptibility to disease; the patient carries a second mutation in the HH-associated gene KISS1R; results in decreased expression at the cell surface. 1 Publication
    VAR_069942

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 144144Missing in isoform 2. 2 PublicationsVSP_015582Add
    BLAST
    Alternative sequencei1 – 4242MAPWL…TCGWR → MPRASASGVPALFVSGEQ in isoform 3. 1 PublicationVSP_015583Add
    BLAST
    Alternative sequencei1 – 4242MAPWL…TCGWR → MDYRQSWPWQ in isoform 4. 2 PublicationsVSP_015584Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF494208 mRNA. Translation: AAM74077.1.
    AF494211 mRNA. Translation: AAM74080.1.
    AY489047 mRNA. Translation: AAS15051.2.
    AF458067 mRNA. Translation: AAM77571.1.
    AY358774 mRNA. Translation: AAQ89134.1.
    AL133097 mRNA. Translation: CAB61408.1.
    AL833913 mRNA. Translation: CAD38769.1.
    BC111702 mRNA. Translation: AAI11703.2.
    CCDSiCCDS2880.2. [Q8NFM7-1]
    PIRiT42695.
    RefSeqiNP_060033.3. NM_017563.3. [Q8NFM7-1]
    XP_006713272.1. XM_006713209.1. [Q8NFM7-2]
    UniGeneiHs.150725.

    Genome annotation databases

    EnsembliENST00000296318; ENSP00000296318; ENSG00000144730. [Q8NFM7-1]
    ENST00000320057; ENSP00000322250; ENSG00000144730. [Q8NFM7-2]
    ENST00000463523; ENSP00000417516; ENSG00000144730. [Q8NFM7-2]
    GeneIDi54756.
    KEGGihsa:54756.
    UCSCiuc003dik.3. human. [Q8NFM7-3]
    uc003dil.3. human. [Q8NFM7-1]

    Polymorphism databases

    DMDMi126302555.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF494208 mRNA. Translation: AAM74077.1 .
    AF494211 mRNA. Translation: AAM74080.1 .
    AY489047 mRNA. Translation: AAS15051.2 .
    AF458067 mRNA. Translation: AAM77571.1 .
    AY358774 mRNA. Translation: AAQ89134.1 .
    AL133097 mRNA. Translation: CAB61408.1 .
    AL833913 mRNA. Translation: CAD38769.1 .
    BC111702 mRNA. Translation: AAI11703.2 .
    CCDSi CCDS2880.2. [Q8NFM7-1 ]
    PIRi T42695.
    RefSeqi NP_060033.3. NM_017563.3. [Q8NFM7-1 ]
    XP_006713272.1. XM_006713209.1. [Q8NFM7-2 ]
    UniGenei Hs.150725.

    3D structure databases

    ProteinModelPortali Q8NFM7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120132. 1 interaction.
    STRINGi 9606.ENSP00000296318.

    PTM databases

    PhosphoSitei Q8NFM7.

    Polymorphism databases

    DMDMi 126302555.

    Proteomic databases

    PaxDbi Q8NFM7.
    PRIDEi Q8NFM7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296318 ; ENSP00000296318 ; ENSG00000144730 . [Q8NFM7-1 ]
    ENST00000320057 ; ENSP00000322250 ; ENSG00000144730 . [Q8NFM7-2 ]
    ENST00000463523 ; ENSP00000417516 ; ENSG00000144730 . [Q8NFM7-2 ]
    GeneIDi 54756.
    KEGGi hsa:54756.
    UCSCi uc003dik.3. human. [Q8NFM7-3 ]
    uc003dil.3. human. [Q8NFM7-1 ]

    Organism-specific databases

    CTDi 54756.
    GeneCardsi GC03M057124.
    H-InvDB HIX0003391.
    HGNCi HGNC:17616. IL17RD.
    HPAi HPA039577.
    HPA043550.
    MIMi 606807. gene.
    615267. phenotype.
    neXtProti NX_Q8NFM7.
    Orphaneti 478. Kallmann syndrome.
    PharmGKBi PA134993407.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45649.
    HOVERGENi HBG081777.
    InParanoidi Q8NFM7.
    KOi K05167.
    OMAi STKYKLM.
    OrthoDBi EOG7P8P7V.
    PhylomeDBi Q8NFM7.
    TreeFami TF329644.

    Enzyme and pathway databases

    Reactomei REACT_9470. Signaling by FGFR.

    Miscellaneous databases

    ChiTaRSi IL17RD. human.
    GenomeRNAii 54756.
    NextBioi 57378.
    PROi Q8NFM7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NFM7.
    Bgeei Q8NFM7.
    CleanExi HS_IL17RD.
    Genevestigatori Q8NFM7.

    Family and domain databases

    InterProi IPR013568. SEFIR.
    IPR000157. TIR_dom.
    [Graphical view ]
    Pfami PF08357. SEFIR. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52200. SSF52200. 1 hit.
    PROSITEi PS51534. SEFIR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "hSef inhibits PC-12 cell differentiation by interfering with Ras-mitogen-activated protein kinase MAPK signaling."
      Xiong S.Q., Zhao Q.H., Rong Z., Huang G.R., Huang Y., Chen P.L., Zhang S., Liu L., Chang Z.J.
      J. Biol. Chem. 278:50273-50282(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT MET-255, FUNCTION, INTERACTION WITH FGFR1 AND FGFR2.
    2. "Alternative splicing generates an isoform of the human Sef gene with altered subcellular localization and specificity."
      Preger E., Ziv I., Shabtay A., Sher I., Tsang M., Dawid I.B., Altuvia Y., Ron D.
      Proc. Natl. Acad. Sci. U.S.A. 101:1229-1234(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT MET-255, SUBCELLULAR LOCATION.
      Tissue: Testis.
    3. "Identification of novel IL-17 related receptors."
      Gilbert J.M., Gorman D.M.
      Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-255.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT MET-255.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-255.
      Tissue: Testis.
    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 4), VARIANT MET-255.
    7. "A novel interleukin-17 receptor-like protein identified in human umbilical vein endothelial cells antagonizes basic fibroblast growth factor-induced signaling."
      Yang R.-B., Domingos Ng C.K., Wasserman S.M., Koemueves L.G., Gerritsen M.E., Topper J.N.
      J. Biol. Chem. 278:33232-33238(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, HOMOOLIGOMERIZATION, INTERACTION WITH FGFR1.
    8. "Sef is a spatial regulator for Ras/MAP kinase signaling."
      Torii S., Kusakabe M., Yamamoto T., Maekawa M., Nishida E.
      Dev. Cell 7:33-44(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH MAP2K1/2, IDENTIFICATION IN A COMPLEX WITH MAP2K1/2 AND MAPK1/3.
    9. Cited for: VARIANTS HH18 THR-131; ARG-162; SER-306; CYS-379; LEU-468; GLN-577 AND VAL-735, CHARACTERIZATION OF VARIANTS HH18 THR-131; ARG-162; SER-306; CYS-379; LEU-468; GLN-577 AND VAL-735.

    Entry informationi

    Entry nameiI17RD_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFM7
    Secondary accession number(s): Q2NKP7
    , Q58EZ7, Q6RVF4, Q6UWI5, Q8N113, Q8NFS0, Q9UFA0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 13, 2005
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 99 of the entry and version 3 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 3
      Human chromosome 3: 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