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Q8IVL5

- P3H2_HUMAN

UniProt

Q8IVL5 - P3H2_HUMAN

Protein

Prolyl 3-hydroxylase 2

Gene

LEPREL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V.By similarity

    Catalytic activityi

    L-proline-[procollagen] + 2-oxoglutarate + O2 = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO2.

    Cofactori

    Iron.By similarity
    Ascorbate.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi580 – 5801Iron
    Metal bindingi582 – 5821Iron
    Metal bindingi652 – 6521Iron
    Active sitei662 – 6621By similarity

    GO - Molecular functioni

    1. iron ion binding Source: InterPro
    2. L-ascorbic acid binding Source: UniProtKB-KW
    3. procollagen-proline 3-dioxygenase activity Source: UniProtKB

    GO - Biological processi

    1. collagen metabolic process Source: UniProtKB
    2. extracellular matrix organization Source: Reactome
    3. negative regulation of cell proliferation Source: UniProtKB
    4. peptidyl-proline hydroxylation Source: UniProtKB

    Keywords - Molecular functioni

    Dioxygenase, Oxidoreductase

    Keywords - Ligandi

    Iron, Metal-binding, Vitamin C

    Enzyme and pathway databases

    ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Prolyl 3-hydroxylase 2 (EC:1.14.11.7)
    Alternative name(s):
    Leprecan-like protein 1
    Myxoid liposarcoma-associated protein 4
    Gene namesi
    Name:LEPREL1
    Synonyms:MLAT4, P3H2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:19317. LEPREL1.

    Subcellular locationi

    Endoplasmic reticulum 1 PublicationPROSITE-ProRule annotation. Golgi apparatus 1 Publication

    GO - Cellular componenti

    1. basement membrane Source: UniProtKB
    2. endoplasmic reticulum Source: UniProtKB
    3. endoplasmic reticulum lumen Source: Reactome
    4. Golgi apparatus Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus

    Pathology & Biotechi

    Involvement in diseasei

    Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]: A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti508 – 5081G → V in MCVD; loss of function. 1 Publication
    VAR_066637

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614292. phenotype.
    Orphaneti98619. Rare isolated myopia.
    PharmGKBiPA134922807.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 708684Prolyl 3-hydroxylase 2PRO_0000240356Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi449 – 4491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi549 – 5491N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8IVL5.
    PaxDbiQ8IVL5.
    PRIDEiQ8IVL5.

    PTM databases

    PhosphoSiteiQ8IVL5.

    Expressioni

    Tissue specificityi

    Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells.1 Publication

    Gene expression databases

    ArrayExpressiQ8IVL5.
    BgeeiQ8IVL5.
    CleanExiHS_LEPREL1.
    GenevestigatoriQ8IVL5.

    Organism-specific databases

    HPAiHPA007890.
    HPA013355.

    Interactioni

    Protein-protein interaction databases

    BioGridi120510. 1 interaction.
    IntActiQ8IVL5. 3 interactions.
    STRINGi9606.ENSP00000316881.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IVL5.
    SMRiQ8IVL5. Positions 310-350.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati44 – 7734TPR 1Add
    BLAST
    Repeati148 – 18134TPR 2Add
    BLAST
    Repeati210 – 24334TPR 3Add
    BLAST
    Repeati306 – 33934TPR 4Add
    BLAST
    Domaini557 – 671115Fe2OG dioxygenasePROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi705 – 7084Prevents secretion from ERPROSITE-ProRule annotation

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi93 – 997Poly-Pro

    Sequence similaritiesi

    Belongs to the leprecan family.Curated
    Contains 1 Fe2OG dioxygenase domain.PROSITE-ProRule annotation
    Contains 4 TPR repeats.Curated

    Keywords - Domaini

    Repeat, Signal, TPR repeat

    Phylogenomic databases

    eggNOGiNOG269251.
    HOGENOMiHOG000231087.
    HOVERGENiHBG053224.
    InParanoidiQ8IVL5.
    OMAiQGKHELN.
    OrthoDBiEOG7BZVSS.
    PhylomeDBiQ8IVL5.
    TreeFamiTF320837.

    Family and domain databases

    Gene3Di1.25.40.10. 4 hits.
    InterProiIPR005123. Oxoglu/Fe-dep_dioxygenase.
    IPR006620. Pro_4_hyd_alph.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    [Graphical view]
    PfamiPF13640. 2OG-FeII_Oxy_3. 1 hit.
    PF07719. TPR_2. 2 hits.
    [Graphical view]
    SMARTiSM00702. P4Hc. 1 hit.
    [Graphical view]
    PROSITEiPS00014. ER_TARGET. 1 hit.
    PS51471. FE2OG_OXY. 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: Q8IVL5-1) [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

    MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS    50
    GAAAYYSGDY ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG 100
    EGPGAELPLF RSLLGRARCY RSCETQRLGG PASRHRVSED VRSDFQRRVP 150
    YNYLQRAYIK LNQLEKAVEA AHTFFVANPE HMEMQQNIEN YRATAGVEAL 200
    QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY FVEDTECRTL 250
    CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP 300
    IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE 350
    SLLDDSIDPA SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI 400
    RYGGRQDENR VPSGVNVEGA EVHGFSMGKK LSPKIDRDLR EGGPLLYENI 450
    TFVYNSEQLN GTQRVLLDNV LSEEQCRELH SVASGIMLVG DGYRGKTSPH 500
    TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR IVESYFMLNS 550
    TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY 600
    TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN 650
    PHGVKAVTKG KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL 700
    NINPKDEL 708
    Length:708
    Mass (Da):80,984
    Last modified:March 1, 2003 - v1
    Checksum:iB9E680C90D607291
    GO
    Isoform 2 (identifier: Q8IVL5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-181: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:527
    Mass (Da):60,387
    Checksum:iD3B80AE780F6D8DD
    GO

    Sequence cautioni

    The sequence BAA91769.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti477 – 4771R → Q in BAG51712. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti508 – 5081G → V in MCVD; loss of function. 1 Publication
    VAR_066637
    Natural varianti613 – 6131D → N in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036123

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 181181Missing in isoform 2. CuratedVSP_053814Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ430351 mRNA. Translation: CAD23039.2.
    AK001580 mRNA. Translation: BAA91769.1. Different initiation.
    AK056447 mRNA. Translation: BAG51712.1.
    AK125134 mRNA. Translation: BAG54151.1.
    AC016966 Genomic DNA. No translation available.
    AC063939 Genomic DNA. No translation available.
    AC099660 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78109.1.
    CH471052 Genomic DNA. Translation: EAW78110.1.
    CH471052 Genomic DNA. Translation: EAW78111.1.
    BC005029 mRNA. Translation: AAH05029.1.
    CCDSiCCDS3294.1. [Q8IVL5-1]
    CCDS46981.1. [Q8IVL5-2]
    RefSeqiNP_001127890.1. NM_001134418.1. [Q8IVL5-2]
    NP_060662.2. NM_018192.3. [Q8IVL5-1]
    UniGeneiHs.374191.

    Genome annotation databases

    EnsembliENST00000319332; ENSP00000316881; ENSG00000090530. [Q8IVL5-1]
    ENST00000427335; ENSP00000408947; ENSG00000090530. [Q8IVL5-2]
    GeneIDi55214.
    KEGGihsa:55214.
    UCSCiuc003fsg.3. human. [Q8IVL5-1]

    Polymorphism databases

    DMDMi74714365.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ430351 mRNA. Translation: CAD23039.2 .
    AK001580 mRNA. Translation: BAA91769.1 . Different initiation.
    AK056447 mRNA. Translation: BAG51712.1 .
    AK125134 mRNA. Translation: BAG54151.1 .
    AC016966 Genomic DNA. No translation available.
    AC063939 Genomic DNA. No translation available.
    AC099660 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78109.1 .
    CH471052 Genomic DNA. Translation: EAW78110.1 .
    CH471052 Genomic DNA. Translation: EAW78111.1 .
    BC005029 mRNA. Translation: AAH05029.1 .
    CCDSi CCDS3294.1. [Q8IVL5-1 ]
    CCDS46981.1. [Q8IVL5-2 ]
    RefSeqi NP_001127890.1. NM_001134418.1. [Q8IVL5-2 ]
    NP_060662.2. NM_018192.3. [Q8IVL5-1 ]
    UniGenei Hs.374191.

    3D structure databases

    ProteinModelPortali Q8IVL5.
    SMRi Q8IVL5. Positions 310-350.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120510. 1 interaction.
    IntActi Q8IVL5. 3 interactions.
    STRINGi 9606.ENSP00000316881.

    Chemistry

    DrugBanki DB00172. L-Proline.
    DB00139. Succinic acid.
    DB00126. Vitamin C.

    PTM databases

    PhosphoSitei Q8IVL5.

    Polymorphism databases

    DMDMi 74714365.

    Proteomic databases

    MaxQBi Q8IVL5.
    PaxDbi Q8IVL5.
    PRIDEi Q8IVL5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000319332 ; ENSP00000316881 ; ENSG00000090530 . [Q8IVL5-1 ]
    ENST00000427335 ; ENSP00000408947 ; ENSG00000090530 . [Q8IVL5-2 ]
    GeneIDi 55214.
    KEGGi hsa:55214.
    UCSCi uc003fsg.3. human. [Q8IVL5-1 ]

    Organism-specific databases

    CTDi 55214.
    GeneCardsi GC03M189674.
    HGNCi HGNC:19317. LEPREL1.
    HPAi HPA007890.
    HPA013355.
    MIMi 610341. gene.
    614292. phenotype.
    neXtProti NX_Q8IVL5.
    Orphaneti 98619. Rare isolated myopia.
    PharmGKBi PA134922807.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG269251.
    HOGENOMi HOG000231087.
    HOVERGENi HBG053224.
    InParanoidi Q8IVL5.
    OMAi QGKHELN.
    OrthoDBi EOG7BZVSS.
    PhylomeDBi Q8IVL5.
    TreeFami TF320837.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

    Miscellaneous databases

    GenomeRNAii 55214.
    NextBioi 35469224.
    PROi Q8IVL5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IVL5.
    Bgeei Q8IVL5.
    CleanExi HS_LEPREL1.
    Genevestigatori Q8IVL5.

    Family and domain databases

    Gene3Di 1.25.40.10. 4 hits.
    InterProi IPR005123. Oxoglu/Fe-dep_dioxygenase.
    IPR006620. Pro_4_hyd_alph.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    [Graphical view ]
    Pfami PF13640. 2OG-FeII_Oxy_3. 1 hit.
    PF07719. TPR_2. 2 hits.
    [Graphical view ]
    SMARTi SM00702. P4Hc. 1 hit.
    [Graphical view ]
    PROSITEi PS00014. ER_TARGET. 1 hit.
    PS51471. FE2OG_OXY. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas."
      Thelin-Jaernum S., Lassen C., Panagopoulos I., Mandahl N., Aaman P.
      Int. J. Cancer 83:30-33(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liposarcoma.
    2. "LEPREL1, a novel ER and Golgi resident member of the Leprecan family."
      Jaernum S., Kjellman C., Darabi A., Nilsson I., Edvardsen K., Aaman P.
      Biochem. Biophys. Res. Commun. 317:342-351(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, POSSIBLE FUNCTION.
      Tissue: Liposarcoma.
    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: Teratocarcinoma and Tongue.
    4. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(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] OF 161-708 (ISOFORM 1).
      Tissue: Lung.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-613.
    8. Cited for: VARIANT MCVD VAL-508, CHARACTERIZATION OF VARIANT MCVD VAL-508.

    Entry informationi

    Entry nameiP3H2_HUMAN
    AccessioniPrimary (citable) accession number: Q8IVL5
    Secondary accession number(s): B3KPK0
    , B3KWI9, D3DNV8, Q9NVI2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 102 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 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