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O43272

- PROD_HUMAN

UniProt

O43272 - PROD_HUMAN

Protein

Proline dehydrogenase 1, mitochondrial

Gene

PRODH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 3 (05 Apr 2011)
      Previous versions | rss
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    Functioni

    Converts proline to delta-1-pyrroline-5-carboxylate.

    Catalytic activityi

    L-proline + a quinone = (S)-1-pyrroline-5-carboxylate + a quinol.1 Publication

    Cofactori

    FAD.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. amino acid binding Source: Ensembl
    2. FAD binding Source: UniProtKB
    3. proline dehydrogenase activity Source: UniProtKB

    GO - Biological processi

    1. 4-hydroxyproline catabolic process Source: BHF-UCL
    2. cellular nitrogen compound metabolic process Source: Reactome
    3. glutamate biosynthetic process Source: InterPro
    4. intrinsic apoptotic signaling pathway in response to oxidative stress Source: UniProtKB
    5. proline catabolic process Source: Reactome
    6. proline catabolic process to glutamate Source: UniProtKB-UniPathway
    7. proline metabolic process Source: ProtInc
    8. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Proline metabolism

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01958-MONOMER.
    ReactomeiREACT_1002. Proline catabolism.
    UniPathwayiUPA00261; UER00373.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Proline dehydrogenase 1, mitochondrial (EC:1.5.5.2)
    Alternative name(s):
    Proline oxidase
    Proline oxidase 2
    p53-induced gene 6 protein
    Gene namesi
    Name:PRODH
    Synonyms:PIG6, POX2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:9453. PRODH.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrial matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Hyperprolinemia 1 (HP-1) [MIM:239500]: Characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti289 – 2891L → M Can be associated with HP-1 in a subset of schizophrenia patients; no effect on enzymatic activity. 1 Publication
    VAR_029566
    Natural varianti431 – 4311R → H Associated with HP-1 in a subset of schizophrenia patients; moderate reduction of enzymatic activity. 2 Publications
    Corresponds to variant rs2904552 [ dbSNP | Ensembl ].
    VAR_029570
    Natural varianti441 – 4411L → P in HP-1; associated with susceptibility to SCZD4; strongly reduced enzymatic activity. 2 Publications
    Corresponds to variant rs2904551 [ dbSNP | Ensembl ].
    VAR_029571
    Natural varianti453 – 4531R → C Associated with susceptibility to SCZD4; can be associated with HP-1 in a subset of schizophrenia patients; strongly reduced enzymatic activity. 2 Publications
    Corresponds to variant rs3970559 [ dbSNP | Ensembl ].
    VAR_029572
    Natural varianti455 – 4551A → S Can be associated with HP-1 in a subset of schizophrenia patients; no effect on enzymatic activity. 1 Publication
    Corresponds to variant rs1807467 [ dbSNP | Ensembl ].
    VAR_029573
    Natural varianti521 – 5211Q → R Associated with susceptibility to SCZD4; can be associated with HP-1 in a subset of schizophrenia patients; enhanced enzymatic activity. 4 Publications
    Corresponds to variant rs450046 [ dbSNP | Ensembl ].
    VAR_029577
    Schizophrenia 4 (SCZD4) [MIM:600850]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti167 – 1671A → V Associated with susceptibility to SCZD4; moderate reduction of enzymatic activity. 1 Publication
    VAR_029563
    Natural varianti406 – 4061P → L Associated with susceptibility to SCZD4; strongly reduced enzymatic activity. 1 Publication
    Corresponds to variant rs3970555 [ dbSNP | Ensembl ].
    VAR_029567
    Natural varianti427 – 4271V → M Associated with susceptibility to SCZD4; moderate reduction of enzymatic activity. 1 Publication
    Corresponds to variant rs2238731 [ dbSNP | Ensembl ].
    VAR_029569
    Natural varianti441 – 4411L → P in HP-1; associated with susceptibility to SCZD4; strongly reduced enzymatic activity. 2 Publications
    Corresponds to variant rs2904551 [ dbSNP | Ensembl ].
    VAR_029571
    Natural varianti453 – 4531R → C Associated with susceptibility to SCZD4; can be associated with HP-1 in a subset of schizophrenia patients; strongly reduced enzymatic activity. 2 Publications
    Corresponds to variant rs3970559 [ dbSNP | Ensembl ].
    VAR_029572
    Natural varianti466 – 4661T → M Associated with susceptibility to SCZD4; strongly reduced affinity for FAD and enzymatic activity. 1 Publication
    Corresponds to variant rs2870984 [ dbSNP | Ensembl ].
    VAR_029574
    Natural varianti472 – 4721A → T Associated with susceptibility to SCZD4; no effect on enzymatic activity. 2 Publications
    Corresponds to variant rs2870983 [ dbSNP | Ensembl ].
    VAR_029575
    Natural varianti521 – 5211Q → R Associated with susceptibility to SCZD4; can be associated with HP-1 in a subset of schizophrenia patients; enhanced enzymatic activity. 4 Publications
    Corresponds to variant rs450046 [ dbSNP | Ensembl ].
    VAR_029577

    Keywords - Diseasei

    Disease mutation, Schizophrenia

    Organism-specific databases

    MIMi181500. phenotype.
    239500. phenotype.
    600850. phenotype.
    Orphaneti419. Hyperprolinemia type 1.
    3140. Schizophrenia.
    PharmGKBiPA33801.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 600Proline dehydrogenase 1, mitochondrialPRO_0000025800
    Transit peptidei1 – ?MitochondrionSequence Analysis

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei368 – 3681N6-acetyllysineBy similarity
    Modified residuei486 – 4861N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO43272.
    PaxDbiO43272.
    PRIDEiO43272.

    PTM databases

    PhosphoSiteiO43272.

    Expressioni

    Tissue specificityi

    Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.

    Inductioni

    During p53/TP53-induced apoptosis.1 Publication

    Gene expression databases

    ArrayExpressiO43272.
    BgeeiO43272.
    GenevestigatoriO43272.

    Organism-specific databases

    HPAiHPA020361.

    Structurei

    3D structure databases

    ProteinModelPortaliO43272.
    SMRiO43272. Positions 350-570.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the proline oxidase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0506.
    HOVERGENiHBG008262.
    InParanoidiO43272.
    KOiK00318.
    OrthoDBiEOG7K9K2J.
    PhylomeDBiO43272.
    TreeFamiTF313544.

    Family and domain databases

    Gene3Di3.20.20.220. 3 hits.
    InterProiIPR029041. FAD-linked_oxidoreductase-like.
    IPR002872. Proline_DH_dom.
    IPR015659. Proline_oxidase.
    [Graphical view]
    PANTHERiPTHR13914. PTHR13914. 1 hit.
    PfamiPF01619. Pro_dh. 1 hit.
    [Graphical view]
    SUPFAMiSSF51730. SSF51730. 3 hits.

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43272-4) [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

    MALRRALPAL RPCIPRFVQL STAPASREQP AAGPAAVPGG GSATAVRPPV    50
    PAVDFGNAQE AYRSRRTWEL ARSLLVLRLC AWPALLARHE QLLYVSRKLL 100
    GQRLFNKLMK MTFYGHFVAG EDQESIQPLL RHYRAFGVSA ILDYGVEEDL 150
    SPEEAEHKEM ESCTSAAERD GSGTNKRDKQ YQAHRAFGDR RNGVISARTY 200
    FYANEAKCDS HMETFLRCIE ASGRVSDDGF IAIKLTALGR PQFLLQFSEV 250
    LAKWRCFFHQ MAVEQGQAGL AAMDTKLEVA VLQESVAKLG IASRAEIEDW 300
    FTAETLGVSG TMDLLDWSSL IDSRTKLSKH LVVPNAQTGQ LEPLLSRFTE 350
    EEELQMTRML QRMDVLAKKA TEMGVRLMVD AEQTYFQPAI SRLTLEMQRK 400
    FNVEKPLIFN TYQCYLKDAY DNVTLDVELA RREGWCFGAK LVRGAYLAQE 450
    RARAAEIGYE DPINPTYEAT NAMYHRCLDY VLEELKHNAK AKVMVASHNE 500
    DTVRFALRRM EELGLHPADH QVYFGQLLGM CDQISFPLGQ AGYPVYKYVP 550
    YGPVMEVLPY LSRRALENSS LMKGTHRERQ LLWLELLRRL RTGNLFHRPA 600
    Length:600
    Mass (Da):68,002
    Last modified:April 5, 2011 - v3
    Checksum:i249E98A0A5BB8027
    GO
    Isoform 2 (identifier: O43272-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-108: Missing.

    Show »
    Length:492
    Mass (Da):56,197
    Checksum:iBE51A3277E264431
    GO
    Isoform 3 (identifier: O43272-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-84: Missing.
         85-95: LLARHEQLLYV → MLEFVMREWKK

    Show »
    Length:516
    Mass (Da):59,231
    Checksum:iE5E72B3C595B4596
    GO

    Sequence cautioni

    The sequence AAH94736.1 differs from that shown. Reason: Artifact. Missing internal sequence that doesn't correspond to an exon-intron boundary.
    The sequence BAD92709.1 differs from that shown. Reason: Intron retention. Includes intronic sequence at the 5' end.
    The sequence AAC39529.1 differs from that shown. Reason: Frameshift at positions 540, 563, 568, 577, 580 and 582.
    The sequence AAH68260.1 differs from that shown. Reason: Frameshift at position 123.
    The sequence AAH94736.1 differs from that shown. Reason: Frameshift at position 40.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti144 – 1441Y → F in AAH94736. (PubMed:15489334)Curated
    Sequence conflicti164 – 1641T → S in AAB88789. (PubMed:9385373)Curated
    Sequence conflicti343 – 3431P → H in AAH68260. (PubMed:15489334)Curated
    Sequence conflicti347 – 3471R → G in AAF21464. (PubMed:15662599)Curated
    Sequence conflicti455 – 4562AE → Q in AAC39529. (PubMed:9305847)Curated
    Sequence conflicti571 – 5711L → F in BAD92709. 1 PublicationCurated
    Sequence conflicti588 – 5881R → K in AAC39529. (PubMed:9305847)Curated
    Sequence conflicti596 – 5961F → L in AAH68260. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81P → L.
    VAR_064883
    Natural varianti19 – 191Q → P Moderate reduction of enzymatic activity.
    Corresponds to variant rs2008720 [ dbSNP | Ensembl ].
    VAR_064884
    Natural varianti30 – 301P → S.
    VAR_064885
    Natural varianti58 – 581A → T.
    VAR_064886
    Natural varianti167 – 1671A → V Associated with susceptibility to SCZD4; moderate reduction of enzymatic activity. 1 Publication
    VAR_029563
    Natural varianti185 – 1851R → Q No effect on enzymatic activity.
    VAR_029564
    Natural varianti185 – 1851R → W Moderate reduction of enzymatic activity.
    Corresponds to variant rs4819756 [ dbSNP | Ensembl ].
    VAR_029565
    Natural varianti275 – 2751T → N.1 Publication
    VAR_029874
    Natural varianti289 – 2891L → M Can be associated with HP-1 in a subset of schizophrenia patients; no effect on enzymatic activity. 1 Publication
    VAR_029566
    Natural varianti406 – 4061P → L Associated with susceptibility to SCZD4; strongly reduced enzymatic activity. 1 Publication
    Corresponds to variant rs3970555 [ dbSNP | Ensembl ].
    VAR_029567
    Natural varianti426 – 4261D → N Moderate reduction of enzymatic activity.
    VAR_029568
    Natural varianti427 – 4271V → M Associated with susceptibility to SCZD4; moderate reduction of enzymatic activity. 1 Publication
    Corresponds to variant rs2238731 [ dbSNP | Ensembl ].
    VAR_029569
    Natural varianti431 – 4311R → H Associated with HP-1 in a subset of schizophrenia patients; moderate reduction of enzymatic activity. 2 Publications
    Corresponds to variant rs2904552 [ dbSNP | Ensembl ].
    VAR_029570
    Natural varianti441 – 4411L → P in HP-1; associated with susceptibility to SCZD4; strongly reduced enzymatic activity. 2 Publications
    Corresponds to variant rs2904551 [ dbSNP | Ensembl ].
    VAR_029571
    Natural varianti444 – 4441G → D.1 Publication
    VAR_029875
    Natural varianti453 – 4531R → C Associated with susceptibility to SCZD4; can be associated with HP-1 in a subset of schizophrenia patients; strongly reduced enzymatic activity. 2 Publications
    Corresponds to variant rs3970559 [ dbSNP | Ensembl ].
    VAR_029572
    Natural varianti455 – 4551A → S Can be associated with HP-1 in a subset of schizophrenia patients; no effect on enzymatic activity. 1 Publication
    Corresponds to variant rs1807467 [ dbSNP | Ensembl ].
    VAR_029573
    Natural varianti466 – 4661T → M Associated with susceptibility to SCZD4; strongly reduced affinity for FAD and enzymatic activity. 1 Publication
    Corresponds to variant rs2870984 [ dbSNP | Ensembl ].
    VAR_029574
    Natural varianti472 – 4721A → T Associated with susceptibility to SCZD4; no effect on enzymatic activity. 2 Publications
    Corresponds to variant rs2870983 [ dbSNP | Ensembl ].
    VAR_029575
    Natural varianti488 – 4881N → S in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036566
    Natural varianti521 – 5211Q → E Strongly reduced enzymatic activity.
    VAR_029576
    Natural varianti521 – 5211Q → R Associated with susceptibility to SCZD4; can be associated with HP-1 in a subset of schizophrenia patients; enhanced enzymatic activity. 4 Publications
    Corresponds to variant rs450046 [ dbSNP | Ensembl ].
    VAR_029577

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 108108Missing in isoform 2. 1 PublicationVSP_021848Add
    BLAST
    Alternative sequencei1 – 8484Missing in isoform 3. 2 PublicationsVSP_040848Add
    BLAST
    Alternative sequencei85 – 9511LLARHEQLLYV → MLEFVMREWKK in isoform 3. 2 PublicationsVSP_040849Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82381 mRNA. Translation: AAB88789.1.
    AF120278 mRNA. Translation: AAD24775.1.
    U79754 mRNA. Translation: AAF21464.1.
    AC007326 Genomic DNA. No translation available.
    BC068260 mRNA. Translation: AAH68260.1. Frameshift.
    BC094736 mRNA. Translation: AAH94736.1. Sequence problems.
    BC118597 mRNA. Translation: AAI18598.1.
    BC121809 mRNA. Translation: AAI21810.1.
    AB209472 mRNA. Translation: BAD92709.1. Sequence problems.
    AF010310 mRNA. Translation: AAC39529.1. Frameshift.
    CCDSiCCDS13754.1. [O43272-4]
    CCDS56223.1. [O43272-2]
    RefSeqiNP_001182155.1. NM_001195226.1. [O43272-2]
    NP_057419.4. NM_016335.4.
    UniGeneiHs.517352.

    Genome annotation databases

    EnsembliENST00000357068; ENSP00000349577; ENSG00000100033.
    GeneIDi5625.
    KEGGihsa:5625.
    UCSCiuc002zok.4. human. [O43272-4]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82381 mRNA. Translation: AAB88789.1 .
    AF120278 mRNA. Translation: AAD24775.1 .
    U79754 mRNA. Translation: AAF21464.1 .
    AC007326 Genomic DNA. No translation available.
    BC068260 mRNA. Translation: AAH68260.1 . Frameshift.
    BC094736 mRNA. Translation: AAH94736.1 . Sequence problems.
    BC118597 mRNA. Translation: AAI18598.1 .
    BC121809 mRNA. Translation: AAI21810.1 .
    AB209472 mRNA. Translation: BAD92709.1 . Sequence problems.
    AF010310 mRNA. Translation: AAC39529.1 . Frameshift.
    CCDSi CCDS13754.1. [O43272-4 ]
    CCDS56223.1. [O43272-2 ]
    RefSeqi NP_001182155.1. NM_001195226.1. [O43272-2 ]
    NP_057419.4. NM_016335.4.
    UniGenei Hs.517352.

    3D structure databases

    ProteinModelPortali O43272.
    SMRi O43272. Positions 350-570.
    ModBasei Search...
    MobiDBi Search...

    Chemistry

    DrugBanki DB00172. L-Proline.

    PTM databases

    PhosphoSitei O43272.

    Proteomic databases

    MaxQBi O43272.
    PaxDbi O43272.
    PRIDEi O43272.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357068 ; ENSP00000349577 ; ENSG00000100033 .
    GeneIDi 5625.
    KEGGi hsa:5625.
    UCSCi uc002zok.4. human. [O43272-4 ]

    Organism-specific databases

    CTDi 5625.
    GeneCardsi GC22M018900.
    HGNCi HGNC:9453. PRODH.
    HPAi HPA020361.
    MIMi 181500. phenotype.
    239500. phenotype.
    600850. phenotype.
    606810. gene.
    neXtProti NX_O43272.
    Orphaneti 419. Hyperprolinemia type 1.
    3140. Schizophrenia.
    PharmGKBi PA33801.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0506.
    HOVERGENi HBG008262.
    InParanoidi O43272.
    KOi K00318.
    OrthoDBi EOG7K9K2J.
    PhylomeDBi O43272.
    TreeFami TF313544.

    Enzyme and pathway databases

    UniPathwayi UPA00261 ; UER00373 .
    BioCyci MetaCyc:HS01958-MONOMER.
    Reactomei REACT_1002. Proline catabolism.

    Miscellaneous databases

    ChiTaRSi PRODH. human.
    GeneWikii Proline_oxidase.
    GenomeRNAii 5625.
    NextBioi 21864.
    PROi O43272.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43272.
    Bgeei O43272.
    Genevestigatori O43272.

    Family and domain databases

    Gene3Di 3.20.20.220. 3 hits.
    InterProi IPR029041. FAD-linked_oxidoreductase-like.
    IPR002872. Proline_DH_dom.
    IPR015659. Proline_oxidase.
    [Graphical view ]
    PANTHERi PTHR13914. PTHR13914. 1 hit.
    Pfami PF01619. Pro_dh. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51730. SSF51730. 3 hits.
    ProtoNeti Search...

    Publicationsi

    1. "A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia."
      Campbell H.D., Webb G.C., Young I.G.
      Hum. Genet. 101:69-74(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Brain.
    2. "The gene encoding proline dehydrogenase modulates sensorimotor gating in mice."
      Gogos J.A., Santha M., Takacs Z., Beck K.D., Luine V., Lucas L.R., Nadler J.V., Karayiorgou M.
      Nat. Genet. 21:434-439(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Cerebellum and Kidney.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME ACTIVITY, COFACTOR, VARIANTS VAL-167 AND ARG-521, CHARACTERIZATION OF VARIANTS VAL-167; TRP-185; GLN-185; MET-289; LEU-406; ASN-426; MET-427; HIS-431; PRO-441; CYS-453; SER-455; MET-466; THR-472; ARG-521 AND GLU-521.
      Tissue: Kidney.
    4. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORMS 1 AND 2), VARIANT ARG-521.
      Tissue: Brain.
    6. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 337-600 (ISOFORMS 1/2/3).
      Tissue: Brain.
    7. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 444-600, INDUCTION BY TP53.
    8. Cited for: VARIANTS MET-289; HIS-431; PRO-441; CYS-453; SER-455; THR-472 AND ARG-521, INVOLVEMENT IN HP-1.
    9. "Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia."
      Liu H., Heath S.C., Sobin C., Roos J.L., Galke B.L., Blundell M.L., Lenane M., Robertson B., Wijsman E.M., Rapoport J.L., Gogos J.A., Karayiorgou M.
      Proc. Natl. Acad. Sci. U.S.A. 99:3717-3722(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-406; MET-427; PRO-441; CYS-453; MET-466; THR-472 AND ARG-521, INVOLVEMENT IN SCZD4.
    10. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-488.
    11. Cited for: VARIANTS ASN-275; HIS-431 AND ASP-444.

    Entry informationi

    Entry nameiPROD_HUMAN
    AccessioniPrimary (citable) accession number: O43272
    Secondary accession number(s): A6NF53
    , O14680, Q0P507, Q147W8, Q504W1, Q59FI8, Q6NV86, Q9UF13
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: April 5, 2011
    Last modified: October 1, 2014
    This is version 136 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 22
      Human chromosome 22: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3