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P07197

- NFM_HUMAN

UniProt

P07197 - NFM_HUMAN

Protein

Neurofilament medium polypeptide

Gene

NEFM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 3 (15 Dec 2009)
      Previous versions | rss
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    Functioni

    Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.

    GO - Molecular functioni

    1. microtubule binding Source: BHF-UCL
    2. protein binding Source: IntAct
    3. structural constituent of cytoskeleton Source: ProtInc

    GO - Biological processi

    1. axon cargo transport Source: Ensembl
    2. microtubule cytoskeleton organization Source: Ensembl
    3. neurofilament bundle assembly Source: BHF-UCL
    4. regulation of axon diameter Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neurofilament medium polypeptide
    Short name:
    NF-M
    Alternative name(s):
    160 kDa neurofilament protein
    Neurofilament 3
    Neurofilament triplet M protein
    Gene namesi
    Name:NEFM
    Synonyms:NEF3, NFM
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:7734. NEFM.

    Subcellular locationi

    GO - Cellular componenti

    1. axon Source: UniProtKB
    2. neurofibrillary tangle Source: BHF-UCL
    3. neurofilament Source: ProtInc
    4. neuromuscular junction Source: Ensembl

    Keywords - Cellular componenti

    Intermediate filament

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162397442.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 916915Neurofilament medium polypeptidePRO_0000063794Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserineBy similarity
    Glycosylationi47 – 471O-linked (GlcNAc)By similarity
    Modified residuei320 – 3201PhosphotyrosineBy similarity
    Glycosylationi431 – 4311O-linked (GlcNAc)By similarity
    Modified residuei511 – 5111PhosphoserineBy similarity
    Modified residuei545 – 5451PhosphoserineBy similarity
    Modified residuei553 – 5531PhosphoserineBy similarity
    Modified residuei559 – 5591PhosphoserineBy similarity
    Modified residuei641 – 6411PhosphoserineBy similarity
    Modified residuei646 – 6461PhosphoserineBy similarity
    Modified residuei680 – 6801PhosphoserineBy similarity
    Modified residuei685 – 6851PhosphoserineBy similarity
    Modified residuei736 – 7361PhosphoserineBy similarity
    Modified residuei783 – 7831PhosphoserineBy similarity
    Modified residuei837 – 8371Phosphoserine2 Publications

    Post-translational modificationi

    There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
    Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.
    Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP07197.
    PaxDbiP07197.
    PRIDEiP07197.

    2D gel databases

    UCD-2DPAGEP07197.

    PTM databases

    PhosphoSiteiP07197.

    Expressioni

    Gene expression databases

    ArrayExpressiP07197.
    BgeeiP07197.
    CleanExiHS_NEFM.
    GenevestigatoriP07197.

    Organism-specific databases

    HPAiCAB010900.
    CAB012976.
    HPA022845.
    HPA023138.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RB1P064002EBI-1105035,EBI-491274
    SMAD2Q157963EBI-1105035,EBI-1040141

    Protein-protein interaction databases

    BioGridi110818. 14 interactions.
    IntActiP07197. 14 interactions.
    STRINGi9606.ENSP00000221166.

    Structurei

    3D structure databases

    ProteinModelPortaliP07197.
    SMRiP07197. Positions 100-249, 265-334, 339-407.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati614 – 626131Add
    BLAST
    Repeati627 – 639132Add
    BLAST
    Repeati640 – 652133Add
    BLAST
    Repeati653 – 665134Add
    BLAST
    Repeati666 – 678135Add
    BLAST
    Repeati679 – 691136Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 104103HeadAdd
    BLAST
    Regioni105 – 412308RodAdd
    BLAST
    Regioni105 – 13632Coil 1AAdd
    BLAST
    Regioni137 – 14913Linker 1Add
    BLAST
    Regioni150 – 24899Coil 1BAdd
    BLAST
    Regioni249 – 26517Linker 12Add
    BLAST
    Regioni266 – 28722Coil 2AAdd
    BLAST
    Regioni288 – 2914Linker 2
    Regioni292 – 412121Coil 2BAdd
    BLAST
    Regioni413 – 916504TailAdd
    BLAST
    Regioni614 – 691786 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK]Add
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG151229.
    HOGENOMiHOG000230977.
    HOVERGENiHBG013015.
    InParanoidiP07197.
    KOiK04573.
    OMAiKEDIAVN.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiP07197.
    TreeFamiTF330122.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR006821. Intermed_filament_DNA-bd.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    IPR027697. NF-M.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF19. PTHR23239:SF19. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    PF04732. Filament_head. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P07197-1) [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

    MSYTLDSLGN PSAYRRVTET RSSFSRVSGS PSSGFRSQSW SRGSPSTVSS    50
    SYKRSMLAPR LAYSSAMLSS AESSLDFSQS SSLLNGGSGP GGDYKLSRSN 100
    EKEQLQGLND RFAGYIEKVH YLEQQNKEIE AEIQALRQKQ ASHAQLGDAY 150
    DQEIRELRAT LEMVNHEKAQ VQLDSDHLEE DIHRLKERFE EEARLRDDTE 200
    AAIRALRKDI EEASLVKVEL DKKVQSLQDE VAFLRSNHEE EVADLLAQIQ 250
    ASHITVERKD YLKTDISTAL KEIRSQLESH SDQNMHQAEE WFKCRYAKLT 300
    EAAEQNKEAI RSAKEEIAEY RRQLQSKSIE LESVRGTKES LERQLSDIEE 350
    RHNHDLSSYQ DTIQQLENEL RGTKWEMARH LREYQDLLNV KMALDIEIAA 400
    YRKLLEGEET RFSTFAGSIT GPLYTHRPPI TISSKIQKPK VEAPKLKVQH 450
    KFVEEIIEET KVEDEKSEME EALTAITEEL AVSMKEEKKE AAEEKEEEPE 500
    AEEEEVAAKK SPVKATAPEV KEEEGEKEEE EGQEEEEEED EGAKSDQAEE 550
    GGSEKEGSSE KEEGEQEEGE TEAEAEGEEA EAKEEKKVEE KSEEVATKEE 600
    LVADAKVEKP EKAKSPVPKS PVEEKGKSPV PKSPVEEKGK SPVPKSPVEE 650
    KGKSPVPKSP VEEKGKSPVS KSPVEEKAKS PVPKSPVEEA KSKAEVGKGE 700
    QKEEEEKEVK EAPKEEKVEK KEEKPKDVPE KKKAESPVKE EAVAEVVTIT 750
    KSVKVHLEKE TKEEGKPLQQ EKEKEKAGGE GGSEEEGSDK GAKGSRKEDI 800
    AVNGEVEGKE EVEQETKEKG SGREEEKGVV TNGLDLSPAD EKKGGDKSEE 850
    KVVVTKTVEK ITSEGGDGAT KYITKSVTVT QKVEEHEETF EEKLVSTKKV 900
    EKVTSHAIVK EVTQSD 916
    Length:916
    Mass (Da):102,472
    Last modified:December 15, 2009 - v3
    Checksum:i187B16CA6C6BF092
    GO
    Isoform 2 (identifier: P07197-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2-376: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:541
    Mass (Da):59,599
    Checksum:iC74BDA0C506CDB10
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti482 – 4821V → A in CAA68276. (PubMed:3608989)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti439 – 4391P → T.6 Publications
    Corresponds to variant rs196864 [ dbSNP | Ensembl ].
    VAR_060732
    Natural varianti725 – 7251P → Q.
    Corresponds to variant rs196863 [ dbSNP | Ensembl ].
    VAR_056024

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2 – 376375Missing in isoform 2. 1 PublicationVSP_046306Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y00067 Genomic DNA. Translation: CAA68276.1.
    EF560736 mRNA. Translation: ABQ59046.1.
    AK294681 mRNA. Translation: BAG57843.1.
    AF106564 Genomic DNA. No translation available.
    CH471080 Genomic DNA. Translation: EAW63602.1.
    BC096757 mRNA. Translation: AAH96757.1.
    CCDSiCCDS6046.1. [P07197-1]
    PIRiA27864.
    RefSeqiNP_005373.2. NM_005382.2. [P07197-1]
    UniGeneiHs.458657.
    Hs.730072.

    Genome annotation databases

    EnsembliENST00000221166; ENSP00000221166; ENSG00000104722. [P07197-1]
    GeneIDi4741.
    KEGGihsa:4741.
    UCSCiuc003xed.4. human. [P07197-1]

    Polymorphism databases

    DMDMi281185500.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y00067 Genomic DNA. Translation: CAA68276.1 .
    EF560736 mRNA. Translation: ABQ59046.1 .
    AK294681 mRNA. Translation: BAG57843.1 .
    AF106564 Genomic DNA. No translation available.
    CH471080 Genomic DNA. Translation: EAW63602.1 .
    BC096757 mRNA. Translation: AAH96757.1 .
    CCDSi CCDS6046.1. [P07197-1 ]
    PIRi A27864.
    RefSeqi NP_005373.2. NM_005382.2. [P07197-1 ]
    UniGenei Hs.458657.
    Hs.730072.

    3D structure databases

    ProteinModelPortali P07197.
    SMRi P07197. Positions 100-249, 265-334, 339-407.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110818. 14 interactions.
    IntActi P07197. 14 interactions.
    STRINGi 9606.ENSP00000221166.

    PTM databases

    PhosphoSitei P07197.

    Polymorphism databases

    DMDMi 281185500.

    2D gel databases

    UCD-2DPAGE P07197.

    Proteomic databases

    MaxQBi P07197.
    PaxDbi P07197.
    PRIDEi P07197.

    Protocols and materials databases

    DNASUi 4741.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000221166 ; ENSP00000221166 ; ENSG00000104722 . [P07197-1 ]
    GeneIDi 4741.
    KEGGi hsa:4741.
    UCSCi uc003xed.4. human. [P07197-1 ]

    Organism-specific databases

    CTDi 4741.
    GeneCardsi GC08P024770.
    H-InvDB HIX0034266.
    HIX0034491.
    HGNCi HGNC:7734. NEFM.
    HPAi CAB010900.
    CAB012976.
    HPA022845.
    HPA023138.
    MIMi 162250. gene.
    neXtProti NX_P07197.
    PharmGKBi PA162397442.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG151229.
    HOGENOMi HOG000230977.
    HOVERGENi HBG013015.
    InParanoidi P07197.
    KOi K04573.
    OMAi KEDIAVN.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi P07197.
    TreeFami TF330122.

    Miscellaneous databases

    ChiTaRSi NEFM. human.
    GeneWikii NEFM.
    GenomeRNAii 4741.
    NextBioi 18284.
    PROi P07197.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P07197.
    Bgeei P07197.
    CleanExi HS_NEFM.
    Genevestigatori P07197.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR006821. Intermed_filament_DNA-bd.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    IPR027697. NF-M.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF19. PTHR23239:SF19. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    PF04732. Filament_head. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family."
      Myers M.W., Lazzarini R.A., Lee V.M.-Y., Schlaepfer W.W., Nelson D.L.
      EMBO J. 6:1617-1626(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-439.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-439.
      Tissue: Retina.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT THR-439.
      Tissue: Brain.
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-439.
    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), VARIANT THR-439.
      Tissue: Brain.
    7. "Identification of the major multiphosphorylation site in mammalian neurofilaments."
      Lee V.M.-Y., Otvos L. Jr., Carden M.J., Hollosi M., Dietzschold B., Lazzarini R.A.
      Proc. Natl. Acad. Sci. U.S.A. 85:1998-2002(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL PROTEIN SEQUENCE.
    8. Lubec G., Chen W.-Q., Sun Y.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 128-137; 140-155; 169-184 AND 592-606, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Fetal brain cortex.
    9. "PKN associates and phosphorylates the head-rod domain of neurofilament protein."
      Mukai H., Toshimori M., Shibata H., Kitagawa M., Shimakawa M., Miyahara M., Sunakawa H., Ono Y.
      J. Biol. Chem. 271:9816-9822(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION BY PKN1.
    10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-837, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-439, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNFM_HUMAN
    AccessioniPrimary (citable) accession number: P07197
    Secondary accession number(s): B4DGN2, E9PBF7, Q4QRK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1988
    Last sequence update: December 15, 2009
    Last modified: October 1, 2014
    This is version 152 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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