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O43272

- PROD_HUMAN

UniProt

O43272 - PROD_HUMAN

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Protein

Proline dehydrogenase 1, mitochondrial

Gene

PRODH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

FAD1 Publication

Pathwayi

GO - Molecular functioni

  1. FAD binding Source: UniProtKB
  2. 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. intrinsic apoptotic signaling pathway in response to oxidative stress Source: UniProtKB
  4. proline catabolic process Source: Reactome
  5. proline catabolic process to glutamate Source: UniProtKB-UniPathway
  6. proline metabolic process Source: ProtInc
  7. small molecule metabolic process Source: Reactome
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO43272.
ExpressionAtlasiO43272. baseline and differential.
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

        10         20         30         40         50
MALRRALPAL RPCIPRFVQL STAPASREQP AAGPAAVPGG GSATAVRPPV
60 70 80 90 100
PAVDFGNAQE AYRSRRTWEL ARSLLVLRLC AWPALLARHE QLLYVSRKLL
110 120 130 140 150
GQRLFNKLMK MTFYGHFVAG EDQESIQPLL RHYRAFGVSA ILDYGVEEDL
160 170 180 190 200
SPEEAEHKEM ESCTSAAERD GSGTNKRDKQ YQAHRAFGDR RNGVISARTY
210 220 230 240 250
FYANEAKCDS HMETFLRCIE ASGRVSDDGF IAIKLTALGR PQFLLQFSEV
260 270 280 290 300
LAKWRCFFHQ MAVEQGQAGL AAMDTKLEVA VLQESVAKLG IASRAEIEDW
310 320 330 340 350
FTAETLGVSG TMDLLDWSSL IDSRTKLSKH LVVPNAQTGQ LEPLLSRFTE
360 370 380 390 400
EEELQMTRML QRMDVLAKKA TEMGVRLMVD AEQTYFQPAI SRLTLEMQRK
410 420 430 440 450
FNVEKPLIFN TYQCYLKDAY DNVTLDVELA RREGWCFGAK LVRGAYLAQE
460 470 480 490 500
RARAAEIGYE DPINPTYEAT NAMYHRCLDY VLEELKHNAK AKVMVASHNE
510 520 530 540 550
DTVRFALRRM EELGLHPADH QVYFGQLLGM CDQISFPLGQ AGYPVYKYVP
560 570 580 590 600
YGPVMEVLPY LSRRALENSS LMKGTHRERQ LLWLELLRRL RTGNLFHRPA
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 AAC39529.1 differs from that shown. Reason: Frameshift at positions 540, 563, 568, 577, 580 and 582. Curated
The sequence AAH68260.1 differs from that shown. Reason: Frameshift at position 123. Curated
The sequence AAH94736.1 differs from that shown. Reason: Artifact. Missing internal sequence that doesn't correspond to an exon-intron boundary.Curated
The sequence AAH94736.1 differs from that shown. Reason: Frameshift at position 40. Curated
The sequence BAD92709.1 differs from that shown. Reason: Intron retention. Includes intronic sequence at the 5' end.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

Bgeei O43272.
ExpressionAtlasi O43272. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 138 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