Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O60683

- PEX10_HUMAN

UniProt

O60683 - PEX10_HUMAN

Protein

Peroxisome biogenesis factor 10

Gene

PEX10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Somewhat implicated in the biogenesis of peroxisomes.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri273 – 31139RING-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein C-terminus binding Source: UniProtKB
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. peroxisome organization Source: UniProtKB
    2. protein import into peroxisome matrix Source: UniProtKB

    Keywords - Biological processi

    Peroxisome biogenesis

    Keywords - Ligandi

    Metal-binding, Zinc

    Protein family/group databases

    TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peroxisome biogenesis factor 10
    Alternative name(s):
    Peroxin-10
    Peroxisomal biogenesis factor 10
    Peroxisome assembly protein 10
    RING finger protein 69
    Gene namesi
    Name:PEX10
    Synonyms:RNF69
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:8851. PEX10.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of peroxisomal membrane Source: UniProtKB
    2. intracellular Source: GOC
    3. peroxisomal membrane Source: UniProtKB
    4. peroxisome Source: MGI

    Keywords - Cellular componenti

    Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Peroxisome biogenesis disorder complementation group 7 (PBD-CG7) [MIM:614870]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Peroxisome biogenesis disorder 6A (PBD6A) [MIM:614870]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti290 – 2901H → Q in PBD6B; neonatal adrenoleukodystrophy. 1 Publication
    VAR_007805

    Keywords - Diseasei

    Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

    Organism-specific databases

    MIMi614870. phenotype.
    614871. phenotype.
    Orphaneti247815. Autosomal recessive ataxia due to PEX10 deficiency.
    772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBiPA33193.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 326326Peroxisome biogenesis factor 10PRO_0000056376Add
    BLAST

    Proteomic databases

    MaxQBiO60683.
    PaxDbiO60683.
    PRIDEiO60683.

    PTM databases

    PhosphoSiteiO60683.

    Expressioni

    Gene expression databases

    ArrayExpressiO60683.
    BgeeiO60683.
    CleanExiHS_PEX10.
    GenevestigatoriO60683.

    Organism-specific databases

    HPAiHPA049458.
    HPA049755.

    Interactioni

    Subunit structurei

    Interacts with PEX19.2 Publications

    Protein-protein interaction databases

    BioGridi111215. 15 interactions.
    IntActiO60683. 7 interactions.
    STRINGi9606.ENSP00000288774.

    Structurei

    3D structure databases

    ProteinModelPortaliO60683.
    SMRiO60683. Positions 272-311.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the pex2/pex10/pex12 family.Curated
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri273 – 31139RING-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5574.
    HOGENOMiHOG000180194.
    HOVERGENiHBG053568.
    InParanoidiO60683.
    KOiK13346.
    OMAiATECGHL.
    OrthoDBiEOG7C8GHZ.
    PhylomeDBiO60683.
    TreeFamiTF326491.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR025654. PEX10.
    IPR006845. Pex_N.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view]
    PANTHERiPTHR23350. PTHR23350. 1 hit.
    PfamiPF04757. Pex2_Pex12. 1 hit.
    [Graphical view]
    SMARTiSM00184. RING. 1 hit.
    [Graphical view]
    PROSITEiPS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60683-1) [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

    MAPAAASPPE VIRAAQKDEY YRGGLRSAAG GALHSLAGAR KWLEWRKEVE    50
    LLSDVAYFGL TTLAGYQTLG EEYVSIIQVD PSRIHVPSSL RRGVLVTLHA 100
    VLPYLLDKAL LPLEQELQAD PDSGRPLQGS LGPGGRGCSG ARRWMRHHTA 150
    TLTEQQRRAL LRAVFVLRQG LACLQRLHVA WFYIHGVFYH LAKRLTGITY 200
    LRVRSLPGED LRARVSYRLL GVISLLHLVL SMGLQLYGFR QRQRARKEWR 250
    LHRGLSHRRA SLEERAVSRN PLCTLCLEER RHPTATPCGH LFCWECITAW 300
    CSSKAECPLC REKFPPQKLI YLRHYR 326
    Length:326
    Mass (Da):37,069
    Last modified:August 1, 1998 - v1
    Checksum:i9CF2CE5E4C797799
    GO
    Isoform 2 (identifier: O60683-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         200-200: Y → YQALRPDPLRVLMSVAPSALQ

    Note: No experimental confirmation available.

    Show »
    Length:346
    Mass (Da):39,214
    Checksum:i0C0720D0E9BF11F8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti274 – 2741T → A.1 Publication
    Corresponds to variant rs34154371 [ dbSNP | Ensembl ].
    VAR_058388
    Natural varianti290 – 2901H → Q in PBD6B; neonatal adrenoleukodystrophy. 1 Publication
    VAR_007805

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei200 – 2001Y → YQALRPDPLRVLMSVAPSAL Q in isoform 2. 1 PublicationVSP_005771

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF060502 mRNA. Translation: AAC18133.1.
    AB013818 mRNA. Translation: BAA87895.1.
    AK124816 mRNA. Translation: BAG54100.1.
    AL513477 Genomic DNA. Translation: CAI22603.1.
    CH471183 Genomic DNA. Translation: EAW56105.1.
    BC000543 mRNA. Translation: AAH00543.1.
    BC018198 mRNA. Translation: AAH18198.1.
    CCDSiCCDS41.1. [O60683-2]
    CCDS44045.1. [O60683-1]
    RefSeqiNP_002608.1. NM_002617.3. [O60683-1]
    NP_722540.1. NM_153818.1. [O60683-2]
    UniGeneiHs.732228.

    Genome annotation databases

    EnsembliENST00000288774; ENSP00000288774; ENSG00000157911. [O60683-2]
    ENST00000447513; ENSP00000407922; ENSG00000157911. [O60683-1]
    GeneIDi5192.
    KEGGihsa:5192.
    UCSCiuc001ajg.3. human. [O60683-2]
    uc001ajh.3. human. [O60683-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    dbPEX, PEX Gene Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF060502 mRNA. Translation: AAC18133.1 .
    AB013818 mRNA. Translation: BAA87895.1 .
    AK124816 mRNA. Translation: BAG54100.1 .
    AL513477 Genomic DNA. Translation: CAI22603.1 .
    CH471183 Genomic DNA. Translation: EAW56105.1 .
    BC000543 mRNA. Translation: AAH00543.1 .
    BC018198 mRNA. Translation: AAH18198.1 .
    CCDSi CCDS41.1. [O60683-2 ]
    CCDS44045.1. [O60683-1 ]
    RefSeqi NP_002608.1. NM_002617.3. [O60683-1 ]
    NP_722540.1. NM_153818.1. [O60683-2 ]
    UniGenei Hs.732228.

    3D structure databases

    ProteinModelPortali O60683.
    SMRi O60683. Positions 272-311.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111215. 15 interactions.
    IntActi O60683. 7 interactions.
    STRINGi 9606.ENSP00000288774.

    Protein family/group databases

    TCDBi 3.A.20.1.1. the peroxisomal protein importer (ppi) family.

    PTM databases

    PhosphoSitei O60683.

    Proteomic databases

    MaxQBi O60683.
    PaxDbi O60683.
    PRIDEi O60683.

    Protocols and materials databases

    DNASUi 5192.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000288774 ; ENSP00000288774 ; ENSG00000157911 . [O60683-2 ]
    ENST00000447513 ; ENSP00000407922 ; ENSG00000157911 . [O60683-1 ]
    GeneIDi 5192.
    KEGGi hsa:5192.
    UCSCi uc001ajg.3. human. [O60683-2 ]
    uc001ajh.3. human. [O60683-1 ]

    Organism-specific databases

    CTDi 5192.
    GeneCardsi GC01M002368.
    GeneReviewsi PEX10.
    HGNCi HGNC:8851. PEX10.
    HPAi HPA049458.
    HPA049755.
    MIMi 602859. gene.
    614870. phenotype.
    614871. phenotype.
    neXtProti NX_O60683.
    Orphaneti 247815. Autosomal recessive ataxia due to PEX10 deficiency.
    772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBi PA33193.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5574.
    HOGENOMi HOG000180194.
    HOVERGENi HBG053568.
    InParanoidi O60683.
    KOi K13346.
    OMAi ATECGHL.
    OrthoDBi EOG7C8GHZ.
    PhylomeDBi O60683.
    TreeFami TF326491.

    Miscellaneous databases

    GeneWikii PEX10.
    GenomeRNAii 5192.
    NextBioi 20080.
    PROi O60683.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60683.
    Bgeei O60683.
    CleanExi HS_PEX10.
    Genevestigatori O60683.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR025654. PEX10.
    IPR006845. Pex_N.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view ]
    PANTHERi PTHR23350. PTHR23350. 1 hit.
    Pfami PF04757. Pex2_Pex12. 1 hit.
    [Graphical view ]
    SMARTi SM00184. RING. 1 hit.
    [Graphical view ]
    PROSITEi PS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders."
      Warren D.S., Morrell J.C., Moser H.W., Valle D., Gould S.J.
      Am. J. Hum. Genet. 63:347-359(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PBD6B GLN-290.
    2. "Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B."
      Okumoto K., Itoh R., Shimozawa N., Suzuki Y., Tamura S., Kondo N., Fujiki Y.
      Hum. Mol. Genet. 7:1399-1405(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN PBD6A.
    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 1).
      Tissue: Caudate nucleus.
    4. "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].
    5. 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] (ISOFORMS 1 AND 2).
      Tissue: Brain and Lung.
    7. "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis."
      Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J.
      J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19.
    8. "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences."
      Fransen M., Wylin T., Brees C., Mannaerts G.P., Van Veldhoven P.P.
      Mol. Cell. Biol. 21:4413-4424(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19.
    9. "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders."
      Yik W.Y., Steinberg S.J., Moser A.B., Moser H.W., Hacia J.G.
      Hum. Mutat. 30:E467-E480(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALA-274, INVOLVEMENT IN PBD-CG7.

    Entry informationi

    Entry nameiPEX10_HUMAN
    AccessioniPrimary (citable) accession number: O60683
    Secondary accession number(s): B3KWD8, Q5T095, Q9BW90
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 128 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. 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