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P51172

- SCNND_HUMAN

UniProt

P51172 - SCNND_HUMAN

Protein

Amiloride-sensitive sodium channel subunit delta

Gene

SCNN1D

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.

    GO - Molecular functioni

    1. ligand-gated sodium channel activity Source: ProtInc
    2. protein binding Source: IntAct

    GO - Biological processi

    1. ion transmembrane transport Source: Reactome
    2. response to stimulus Source: UniProtKB-KW
    3. sensory perception of taste Source: UniProtKB-KW
    4. sodium ion transmembrane transport Source: GOC
    5. sodium ion transport Source: ProtInc
    6. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Sodium channel

    Keywords - Biological processi

    Ion transport, Sensory transduction, Sodium transport, Taste, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Amiloride-sensitive sodium channel subunit delta
    Alternative name(s):
    Delta-NaCH
    Epithelial Na(+) channel subunit delta
    Short name:
    Delta-ENaC
    Short name:
    ENaCD
    Nonvoltage-gated sodium channel 1 subunit delta
    SCNED
    Gene namesi
    Name:SCNN1D
    Synonyms:DNACH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:10601. SCNN1D.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. actin cytoskeleton Source: HPA
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProt
    4. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35011.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 638638Amiloride-sensitive sodium channel subunit deltaPRO_0000181282Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi211 – 2111N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi384 – 3841N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP51172.
    PRIDEiP51172.

    PTM databases

    PhosphoSiteiP51172.

    Expressioni

    Gene expression databases

    ArrayExpressiP51172.
    BgeeiP51172.
    CleanExiHS_SCNN1D.
    GenevestigatoriP51172.

    Organism-specific databases

    HPAiCAB009540.
    HPA026884.

    Interactioni

    Subunit structurei

    Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    COMMD1Q8N6683EBI-2547114,EBI-1550112

    Protein-protein interaction databases

    BioGridi112243. 4 interactions.
    IntActiP51172. 1 interaction.
    STRINGi9606.ENSP00000321594.

    Structurei

    3D structure databases

    ProteinModelPortaliP51172.
    SMRiP51172. Positions 250-548.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8787CytoplasmicBy similarityAdd
    BLAST
    Topological domaini112 – 520409ExtracellularBy similarityAdd
    BLAST
    Topological domaini552 – 63887CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei88 – 11124HelicalBy similarityAdd
    BLAST
    Transmembranei521 – 55131HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG254914.
    HOGENOMiHOG000236286.
    HOVERGENiHBG058435.
    KOiK04826.
    PhylomeDBiP51172.

    Family and domain databases

    InterProiIPR004724. EnaC.
    IPR001873. Na+channel_ASC.
    IPR020903. Na+channel_ASC_CS.
    [Graphical view]
    PANTHERiPTHR11690. PTHR11690. 1 hit.
    PfamiPF00858. ASC. 1 hit.
    [Graphical view]
    PRINTSiPR01078. AMINACHANNEL.
    TIGRFAMsiTIGR00859. ENaC. 1 hit.
    PROSITEiPS01206. ASC. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51172-1) [UniParc]FASTAAdd to Basket

    Also known as: delta1

    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

    MAEHRSMDGR MEAATRGGSH LQAAAQTPPR PGPPSAPPPP PKEGHQEGLV    50
    ELPASFRELL TFFCTNATIH GAIRLVCSRG NRLKTTSWGL LSLGALVALC 100
    WQLGLLFERH WHRPVLMAVS VHSERKLLPL VTLCDGNPRR PSPVLRHLEL 150
    LDEFARENID SLYNVNLSKG RAALSATVPR HEPPFHLDRE IRLQRLSHSG 200
    SRVRVGFRLC NSTGGDCFYR GYTSGVAAVQ DWYHFHYVDI LALLPAAWED 250
    SHGSQDGHFV LSCSYDGLDC QARQFRTFHH PTYGSCYTVD GVWTAQRPGI 300
    THGVGLVLRV EQQPHLPLLS TLAGIRVMVH GRNHTPFLGH HSFSVRPGTE 350
    ATISIREDEV HRLGSPYGHC TAGGEGVEVE LLHNTSYTRQ ACLVSCFQQL 400
    MVETCSCGYY LHPLPAGAEY CSSARHPAWG HCFYRLYQDL ETHRLPCTSR 450
    CPRPCRESAF KLSTGTSRWP SAKSAGWTLA TLGEQGLPHQ SHRQRSSLAK 500
    INIVYQELNY RSVEEAPVYS VPQLLSAMGS LCSLWFGASV LSLLELLELL 550
    LDASALTLVL GGRRLRRAWF SWPRASPASG ASSIKPEASQ MPPPAGGTSD 600
    DPEPSGPHLP RVMLPGVLAG VSAEESWAGP QPLETLDT 638
    Length:638
    Mass (Da):70,215
    Last modified:October 17, 2006 - v2
    Checksum:i4BC9653E4BAB0600
    GO
    Isoform 2 (identifier: P51172-2) [UniParc]FASTAAdd to Basket

    Also known as: delta2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: MAEHRSMDGRMEAATRGGSHL → MAFLSRTSPV...TQHNAACKQG

    Note: Channels including isoform 2 exhibit greater conductance than those containing isoform 1.Curated

    Show »
    Length:704
    Mass (Da):77,442
    Checksum:i064ABE9A4EDDF84D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti46 – 461Q → R in ABI64069. (PubMed:16423824)Curated
    Sequence conflicti260 – 2601V → A in ABI64069. (PubMed:16423824)Curated
    Sequence conflicti280 – 2801H → Y in BAC04105. (PubMed:14702039)Curated
    Sequence conflicti433 – 4331F → L in BAC04105. (PubMed:14702039)Curated
    Isoform 2 (identifier: P51172-2)
    Sequence conflicti78 – 781T → A in ABI64069. (PubMed:16423824)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti180 – 1801R → P.1 Publication
    Corresponds to variant rs11260579 [ dbSNP | Ensembl ].
    VAR_028209
    Natural varianti380 – 3801E → Q.1 Publication
    Corresponds to variant rs2228579 [ dbSNP | Ensembl ].
    VAR_028210
    Natural varianti472 – 4721A → T.
    Corresponds to variant rs13306651 [ dbSNP | Ensembl ].
    VAR_028211
    Natural varianti532 – 5321C → Y.3 Publications
    Corresponds to variant rs1053844 [ dbSNP | Ensembl ].
    VAR_028212
    Natural varianti562 – 5621G → S.1 Publication
    Corresponds to variant rs6690013 [ dbSNP | Ensembl ].
    VAR_028213
    Natural varianti606 – 6061G → R.1 Publication
    Corresponds to variant rs609805 [ dbSNP | Ensembl ].
    VAR_028214

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2121MAEHR…GGSHL → MAFLSRTSPVAAASFQSRQE ARGSILLQSCQLPPQWLSTE AWTGEWKQPHGGALTSRSPG PVAPQRPCHLKGWQHRPTQH NAACKQG in isoform 2. 2 PublicationsVSP_007725Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U38254 mRNA. Translation: AAC50283.1.
    DQ898176 mRNA. Translation: ABI64069.1.
    EU489064 mRNA. Translation: ACA51868.1.
    AK093239 mRNA. Translation: BAC04105.1.
    AK127357 mRNA. Translation: BAG54495.1.
    AL162741 Genomic DNA. Translation: CAI23261.1.
    AL162741 Genomic DNA. Translation: CAI23262.1.
    BC036752 mRNA. Translation: AAH36752.1.
    BC125074 mRNA. Translation: AAI25075.1.
    PIRiI39196.
    RefSeqiNP_001123885.2. NM_001130413.3.
    UniGeneiHs.512681.

    Genome annotation databases

    EnsembliENST00000325425; ENSP00000321594; ENSG00000162572. [P51172-2]
    ENST00000338555; ENSP00000339504; ENSG00000162572. [P51172-1]
    ENST00000400928; ENSP00000383717; ENSG00000162572. [P51172-1]
    GeneIDi6339.
    KEGGihsa:6339.
    UCSCiuc001adu.1. human. [P51172-1]
    uc001adw.2. human. [P51172-2]

    Polymorphism databases

    DMDMi116242784.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U38254 mRNA. Translation: AAC50283.1 .
    DQ898176 mRNA. Translation: ABI64069.1 .
    EU489064 mRNA. Translation: ACA51868.1 .
    AK093239 mRNA. Translation: BAC04105.1 .
    AK127357 mRNA. Translation: BAG54495.1 .
    AL162741 Genomic DNA. Translation: CAI23261.1 .
    AL162741 Genomic DNA. Translation: CAI23262.1 .
    BC036752 mRNA. Translation: AAH36752.1 .
    BC125074 mRNA. Translation: AAI25075.1 .
    PIRi I39196.
    RefSeqi NP_001123885.2. NM_001130413.3.
    UniGenei Hs.512681.

    3D structure databases

    ProteinModelPortali P51172.
    SMRi P51172. Positions 250-548.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112243. 4 interactions.
    IntActi P51172. 1 interaction.
    STRINGi 9606.ENSP00000321594.

    Chemistry

    DrugBanki DB00594. Amiloride.
    DB00384. Triamterene.

    PTM databases

    PhosphoSitei P51172.

    Polymorphism databases

    DMDMi 116242784.

    Proteomic databases

    PaxDbi P51172.
    PRIDEi P51172.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325425 ; ENSP00000321594 ; ENSG00000162572 . [P51172-2 ]
    ENST00000338555 ; ENSP00000339504 ; ENSG00000162572 . [P51172-1 ]
    ENST00000400928 ; ENSP00000383717 ; ENSG00000162572 . [P51172-1 ]
    GeneIDi 6339.
    KEGGi hsa:6339.
    UCSCi uc001adu.1. human. [P51172-1 ]
    uc001adw.2. human. [P51172-2 ]

    Organism-specific databases

    CTDi 6339.
    GeneCardsi GC01P001215.
    H-InvDB HIX0000018.
    HGNCi HGNC:10601. SCNN1D.
    HPAi CAB009540.
    HPA026884.
    MIMi 601328. gene.
    neXtProti NX_P51172.
    PharmGKBi PA35011.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG254914.
    HOGENOMi HOG000236286.
    HOVERGENi HBG058435.
    KOi K04826.
    PhylomeDBi P51172.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii SCNN1D.
    GenomeRNAii 6339.
    NextBioi 24616.
    PROi P51172.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51172.
    Bgeei P51172.
    CleanExi HS_SCNN1D.
    Genevestigatori P51172.

    Family and domain databases

    InterProi IPR004724. EnaC.
    IPR001873. Na+channel_ASC.
    IPR020903. Na+channel_ASC_CS.
    [Graphical view ]
    PANTHERi PTHR11690. PTHR11690. 1 hit.
    Pfami PF00858. ASC. 1 hit.
    [Graphical view ]
    PRINTSi PR01078. AMINACHANNEL.
    TIGRFAMsi TIGR00859. ENaC. 1 hit.
    PROSITEi PS01206. ASC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel."
      Waldmann R., Champigny G., Bassilana F., Voilley N., Lazdunski M.
      J. Biol. Chem. 270:27411-27414(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT TYR-532.
    2. "Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction."
      Ji H.L., Su X.F., Kedar S., Li J., Barbry P., Smith P.R., Matalon S., Benos D.J.
      J. Biol. Chem. 281:8233-8241(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SUBUNIT.
      Tissue: Lung.
    3. "Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium."
      Bangel-Ruland N., Sobczak K., Christmann T., Kentrup D., Langhorst H., Kusche-Vihrog K., Weber W.M.
      Am. J. Respir. Cell Mol. Biol. 42:498-505(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
      Tissue: Nasal epithelium.
    4. "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] (ISOFORMS 1 AND 2), VARIANTS TYR-532; SER-562 AND ARG-606.
      Tissue: Hippocampus and Testis.
    5. "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].
    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-180; GLN-380 AND TYR-532.
      Tissue: Brain.
    7. "Characterization of a novel splice variant of delta ENaC subunit in human lungs."
      Zhao R.Z., Nie H.G., Su X.F., Han D.Y., Lee A., Huang Y., Chang Y., Matalon S., Ji H.L.
      Am. J. Physiol. 302:L1262-L1272(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 2).

    Entry informationi

    Entry nameiSCNND_HUMAN
    AccessioniPrimary (citable) accession number: P51172
    Secondary accession number(s): A9Z1X6
    , B1PS44, Q08AQ3, Q09HT0, Q5T7L3, Q8NA24
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 133 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, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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