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Q96G97

- BSCL2_HUMAN

UniProt

Q96G97 - BSCL2_HUMAN

Protein

Seipin

Gene

BSCL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 3 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis By similarity. Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.By similarity2 Publications

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. fat cell differentiation Source: UniProtKB
    3. lipid catabolic process Source: UniProtKB-KW
    4. lipid particle organization Source: UniProtKB
    5. lipid storage Source: UniProtKB
    6. negative regulation of lipid catabolic process Source: UniProtKB

    Keywords - Biological processi

    Lipid degradation, Lipid metabolism

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Seipin
    Alternative name(s):
    Bernardinelli-Seip congenital lipodystrophy type 2 protein
    Gene namesi
    Name:BSCL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:15832. BSCL2.

    Subcellular locationi

    Endoplasmic reticulum membrane 3 Publications; Multi-pass membrane protein 3 Publications

    GO - Cellular componenti

    1. integral component of endoplasmic reticulum membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti212 – 2121A → P in CGL2; increases localization to nuclear envelope. 2 Publications
    VAR_022377
    Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881N → S in SPG17 and HMN5A; does not affect protein subcellular location. 1 Publication
    VAR_022375
    Natural varianti90 – 901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. 2 Publications
    VAR_022376
    Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881N → S in SPG17 and HMN5A; does not affect protein subcellular location. 1 Publication
    VAR_022375
    Natural varianti90 – 901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. 2 Publications
    VAR_022376

    Keywords - Diseasei

    Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi269700. phenotype.
    270685. phenotype.
    600794. phenotype.
    Orphaneti100998. Autosomal dominant spastic paraplegia type 17.
    528. Berardinelli-Seip congenital lipodystrophy.
    139536. Distal hereditary motor neuropathy type 5.
    363400. Severe neurodegenerative syndrome with lipodystrophy.
    PharmGKBiPA25432.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 398398SeipinPRO_0000191679Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi88 – 881N-linked (GlcNAc...)1 Publication
    Glycosylationi242 – 2421N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ96G97.
    PaxDbiQ96G97.
    PRIDEiQ96G97.

    PTM databases

    PhosphoSiteiQ96G97.

    Expressioni

    Tissue specificityi

    Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue.3 Publications

    Gene expression databases

    BgeeiQ96G97.
    CleanExiHS_BSCL2.
    GenevestigatoriQ96G97.

    Organism-specific databases

    HPAiHPA042394.

    Interactioni

    Protein-protein interaction databases

    BioGridi117749. 6 interactions.
    IntActiQ96G97. 5 interactions.
    MINTiMINT-1452482.
    STRINGi9606.ENSP00000354032.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96G97.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2626CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini48 – 242195LumenalSequence AnalysisAdd
    BLAST
    Topological domaini264 – 398135CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei27 – 4721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei243 – 26321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the seipin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG316839.
    HOGENOMiHOG000220875.
    HOVERGENiHBG050736.
    PhylomeDBiQ96G97.
    TreeFamiTF314000.

    Family and domain databases

    InterProiIPR009617. Adipose-reg_protein_Seipin.
    [Graphical view]
    PfamiPF06775. Seipin. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96G97-2) [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

    MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG    50
    SFYYSYMPTV SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL 100
    MYGQPYRVTL ELELPESPVN QDLGMFLVTI SCYTRGGRII STSSRSVMLH 150
    YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE VELYADYREN SYVPTTGAII 200
    EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA SNFTFLSVIV 250
    LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE 300
    STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG 350
    SWEDAALLTE ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS 398
    Length:398
    Mass (Da):44,392
    Last modified:November 24, 2009 - v3
    Checksum:i9FB1B37E72493DB9
    GO
    Isoform 2 (identifier: Q96G97-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         225-287: YLLYNFPMTC...DNSRKEVQRR → LTSEKETIPG...PRRRNQISSP
         288-398: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:287
    Mass (Da):32,654
    Checksum:i674512CF110B8382
    GO
    Isoform 3 (identifier: Q96G97-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAM

    Note: No experimental confirmation available.Curated

    Show »
    Length:462
    Mass (Da):51,159
    Checksum:i2DBDD5A48366AF48
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881N → S in SPG17 and HMN5A; does not affect protein subcellular location. 1 Publication
    VAR_022375
    Natural varianti90 – 901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. 2 Publications
    VAR_022376
    Natural varianti212 – 2121A → P in CGL2; increases localization to nuclear envelope. 2 Publications
    VAR_022377

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MSTEKVDQKEEAGEKEVCGD QIKGPDKEEEPPAAASHGQG WRPGGRAARNARPEPGARHP ALPAM in isoform 3. CuratedVSP_044545
    Alternative sequencei225 – 28763YLLYN…EVQRR → LTSEKETIPGRKSNEGSLLI SQGLKARRSQLRNQMLQRMV RALKIPQGQRVSCPRRRNQI SSP in isoform 2. 1 PublicationVSP_051726Add
    BLAST
    Alternative sequencei288 – 398111Missing in isoform 2. 1 PublicationVSP_051727Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027524 mRNA. Translation: BAB55175.1.
    AK075317 mRNA. Translation: BAC11543.1.
    AF052149 mRNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74070.1.
    CH471076 Genomic DNA. Translation: EAW74074.1.
    AP001458 Genomic DNA. No translation available.
    BC004911 mRNA. Translation: AAH04911.1.
    BC012140 mRNA. Translation: AAH12140.1.
    BC041640 mRNA. Translation: AAH41640.1.
    BC093048 mRNA. Translation: AAH93048.1.
    CCDSiCCDS44627.1. [Q96G97-4]
    CCDS55769.1. [Q96G97-3]
    CCDS8031.1. [Q96G97-2]
    RefSeqiNP_001116427.1. NM_001122955.3. [Q96G97-4]
    NP_001124174.2. NM_001130702.2. [Q96G97-3]
    NP_116056.3. NM_032667.6. [Q96G97-2]
    UniGeneiHs.533709.

    Genome annotation databases

    EnsembliENST00000278893; ENSP00000278893; ENSG00000168000. [Q96G97-3]
    ENST00000360796; ENSP00000354032; ENSG00000168000. [Q96G97-4]
    ENST00000403550; ENSP00000385561; ENSG00000168000. [Q96G97-2]
    ENST00000407022; ENSP00000384080; ENSG00000168000. [Q96G97-2]
    ENST00000421906; ENSP00000413209; ENSG00000168000. [Q96G97-2]
    GeneIDi26580.
    KEGGihsa:26580.
    UCSCiuc001nup.3. human. [Q96G97-2]
    uc001nur.4. human.
    uc009yoc.2. human. [Q96G97-3]

    Polymorphism databases

    DMDMi269849705.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027524 mRNA. Translation: BAB55175.1 .
    AK075317 mRNA. Translation: BAC11543.1 .
    AF052149 mRNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW74070.1 .
    CH471076 Genomic DNA. Translation: EAW74074.1 .
    AP001458 Genomic DNA. No translation available.
    BC004911 mRNA. Translation: AAH04911.1 .
    BC012140 mRNA. Translation: AAH12140.1 .
    BC041640 mRNA. Translation: AAH41640.1 .
    BC093048 mRNA. Translation: AAH93048.1 .
    CCDSi CCDS44627.1. [Q96G97-4 ]
    CCDS55769.1. [Q96G97-3 ]
    CCDS8031.1. [Q96G97-2 ]
    RefSeqi NP_001116427.1. NM_001122955.3. [Q96G97-4 ]
    NP_001124174.2. NM_001130702.2. [Q96G97-3 ]
    NP_116056.3. NM_032667.6. [Q96G97-2 ]
    UniGenei Hs.533709.

    3D structure databases

    ProteinModelPortali Q96G97.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117749. 6 interactions.
    IntActi Q96G97. 5 interactions.
    MINTi MINT-1452482.
    STRINGi 9606.ENSP00000354032.

    PTM databases

    PhosphoSitei Q96G97.

    Polymorphism databases

    DMDMi 269849705.

    Proteomic databases

    MaxQBi Q96G97.
    PaxDbi Q96G97.
    PRIDEi Q96G97.

    Protocols and materials databases

    DNASUi 26580.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000278893 ; ENSP00000278893 ; ENSG00000168000 . [Q96G97-3 ]
    ENST00000360796 ; ENSP00000354032 ; ENSG00000168000 . [Q96G97-4 ]
    ENST00000403550 ; ENSP00000385561 ; ENSG00000168000 . [Q96G97-2 ]
    ENST00000407022 ; ENSP00000384080 ; ENSG00000168000 . [Q96G97-2 ]
    ENST00000421906 ; ENSP00000413209 ; ENSG00000168000 . [Q96G97-2 ]
    GeneIDi 26580.
    KEGGi hsa:26580.
    UCSCi uc001nup.3. human. [Q96G97-2 ]
    uc001nur.4. human.
    uc009yoc.2. human. [Q96G97-3 ]

    Organism-specific databases

    CTDi 26580.
    GeneCardsi GC11M062457.
    GeneReviewsi BSCL2.
    HGNCi HGNC:15832. BSCL2.
    HPAi HPA042394.
    MIMi 269700. phenotype.
    270685. phenotype.
    600794. phenotype.
    606158. gene.
    neXtProti NX_Q96G97.
    Orphaneti 100998. Autosomal dominant spastic paraplegia type 17.
    528. Berardinelli-Seip congenital lipodystrophy.
    139536. Distal hereditary motor neuropathy type 5.
    363400. Severe neurodegenerative syndrome with lipodystrophy.
    PharmGKBi PA25432.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG316839.
    HOGENOMi HOG000220875.
    HOVERGENi HBG050736.
    PhylomeDBi Q96G97.
    TreeFami TF314000.

    Miscellaneous databases

    ChiTaRSi BSCL2. human.
    GeneWikii BSCL2.
    GenomeRNAii 26580.
    NextBioi 48934.
    PROi Q96G97.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96G97.
    CleanExi HS_BSCL2.
    Genevestigatori Q96G97.

    Family and domain databases

    InterProi IPR009617. Adipose-reg_protein_Seipin.
    [Graphical view ]
    Pfami PF06775. Seipin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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).
      Tissue: RetinoblastomaImported and TeratocarcinomaImported.
    2. Yu W., Sarginson J., Gibbs R.A.
      Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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).
      Tissue: KidneyImported, LungImported, PancreasImported and Pituitary.
    6. Cited for: TISSUE SPECIFICITY, VARIANT CGL2 PRO-212.
    7. Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-88, VARIANTS SPG17 AND HMN5A SER-88 AND LEU-90.
    8. Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
    9. "The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation."
      Payne V.A., Grimsey N., Tuthill A., Virtue S., Gray S.L., Dalla Nora E., Semple R.K., O'Rahilly S., Rochford J.J.
      Diabetes 57:2055-2060(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT PRO-212.
    10. "Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17."
      Ito D., Fujisawa T., Iida H., Suzuki N.
      Neurobiol. Dis. 31:266-277(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, CHARACTERIZATION OF VARIANT SPG17 SER-88.
    11. "Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy."
      Boutet E., El Mourabit H., Prot M., Nemani M., Khallouf E., Colard O., Maurice M., Durand-Schneider A.M., Chretien Y., Gres S., Wolf C., Saulnier-Blache J.S., Capeau J., Magre J.
      Biochimie 91:796-803(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. "Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation."
      Tian Y., Bi J., Shui G., Liu Z., Xiang Y., Liu Y., Wenk M.R., Yang H., Huang X.
      PLoS Genet. 7:E1001364-E1001364(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, VARIANT LEU-90.

    Entry informationi

    Entry nameiBSCL2_HUMAN
    AccessioniPrimary (citable) accession number: Q96G97
    Secondary accession number(s): G3XAE4
    , Q567S1, Q96SV1, Q9BSQ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2005
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 109 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 11
      Human chromosome 11: 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