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O94830

- DDHD2_HUMAN

UniProt

O94830 - DDHD2_HUMAN

Protein

Phospholipase DDHD2

Gene

DDHD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 2 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P), phosphatidylinositol 5-phosphate (PI5P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.3 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei351 – 3511Curated

    GO - Molecular functioni

    1. hydrolase activity Source: UniProtKB-KW
    2. metal ion binding Source: InterPro

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. lipid catabolic process Source: UniProtKB-KW

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Lipid degradation, Lipid metabolism

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phospholipase DDHD2 (EC:3.1.1.-)
    Alternative name(s):
    DDHD domain-containing protein 2
    KIAA0725p
    SAM, WWE and DDHD domain-containing protein 1
    Gene namesi
    Name:DDHD2
    Synonyms:KIAA0725, SAMWD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:29106. DDHD2.

    Subcellular locationi

    Cytoplasmcytosol. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatuscis-Golgi network
    Note: Cycles between the Golgi apparatus and the cytosol. DDHD2 recruitment to the Golgi/endoplasmic reticulum-Golgi intermediate compartment (ERGIC) is regulated by the levels of phosphoinositides, including PI4P.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytosol Source: UniProtKB-SubCell
    3. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB-SubCell
    4. Golgi apparatus Source: UniProtKB-SubCell
    5. microtubule organizing center Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Golgi apparatus

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033]: 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti660 – 6601D → H in SPG54. 1 Publication
    VAR_069574

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi351 – 3511S → A: Abolishes phospholipase activity. Loss of efficient targeting to the Golgi apparatus. No effect on PI(3)P-, PI(4)P-, PI(5)P-binding. 3 Publications
    Mutagenesisi434 – 4341R → A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-435 and A-436. 1 Publication
    Mutagenesisi435 – 4351K → A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-436. 1 Publication
    Mutagenesisi436 – 4361K → A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-435. 1 Publication

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi615033. phenotype.
    Orphaneti320380. Autosomal recessive spastic paraplegia type 54.
    PharmGKBiPA128394618.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 711711Phospholipase DDHD2PRO_0000309330Add
    BLAST

    Proteomic databases

    MaxQBiO94830.
    PaxDbiO94830.
    PRIDEiO94830.

    PTM databases

    PhosphoSiteiO94830.

    Expressioni

    Tissue specificityi

    Widely expressed (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiO94830.
    BgeeiO94830.
    CleanExiHS_DDHD2.
    GenevestigatoriO94830.

    Organism-specific databases

    HPAiCAB015202.
    HPA023143.
    HPA023147.
    HPA023150.

    Interactioni

    Subunit structurei

    Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD1.

    Protein-protein interaction databases

    BioGridi116862. 2 interactions.
    IntActiO94830. 2 interactions.
    MINTiMINT-4649256.
    STRINGi9606.ENSP00000380352.

    Structurei

    3D structure databases

    ProteinModelPortaliO94830.
    SMRiO94830. Positions 386-453.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 11283WWEPROSITE-ProRule annotationAdd
    BLAST
    Domaini385 – 44864SAMAdd
    BLAST
    Domaini495 – 700206DDHDPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    SAM and DDHD domains together are required for phospholipid binding.

    Sequence similaritiesi

    Belongs to the PA-PLA1 family.Curated
    Contains 1 DDHD domain.PROSITE-ProRule annotation
    Contains 1 WWE domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG285690.
    HOGENOMiHOG000007725.
    HOVERGENiHBG057256.
    InParanoidiO94830.
    KOiK16545.
    OMAiKDLQEMG.
    OrthoDBiEOG7JDQWX.
    PhylomeDBiO94830.
    TreeFamiTF314133.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    InterProiIPR004177. DDHD.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    IPR004170. WWE-dom.
    [Graphical view]
    PfamiPF02862. DDHD. 1 hit.
    PF00536. SAM_1. 1 hit.
    PF02825. WWE. 1 hit.
    [Graphical view]
    SMARTiSM00454. SAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    PROSITEiPS51043. DDHD. 1 hit.
    PS50918. WWE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O94830-1) [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

    MSSVQSQQEQ LSQSDPSPSP NSCSSFELID MDAGSLYEPV SPHWFYCKII    50
    DSKETWIPFN SEDSQQLEEA YSSGKGCNGR VVPTDGGRYD VHLGERMRYA 100
    VYWDELASEV RRCTWFYKGD KDNKYVPYSE SFSQVLEETY MLAVTLDEWK 150
    KKLESPNREI IILHNPKLMV HYQPVAGSDD WGSTPTEQGR PRTVKRGVEN 200
    ISVDIHCGEP LQIDHLVFVV HGIGPACDLR FRSIVQCVND FRSVSLNLLQ 250
    THFKKAQENQ QIGRVEFLPV NWHSPLHSTG VDVDLQRITL PSINRLRHFT 300
    NDTILDVFFY NSPTYCQTIV DTVASEMNRI YTLFLQRNPD FKGGVSIAGH 350
    SLGSLILFDI LTNQKDSLGD IDSEKDSLNI VMDQGDTPTL EEDLKKLQLS 400
    EFFDIFEKEK VDKEALALCT DRDLQEIGIP LGPRKKILNY FSTRKNSMGI 450
    KRPAPQPASG ANIPKESEFC SSSNTRNGDY LDVGIGQVSV KYPRLIYKPE 500
    IFFAFGSPIG MFLTVRGLKR IDPNYRFPTC KGFFNIYHPF DPVAYRIEPM 550
    VVPGVEFEPM LIPHHKGRKR MHLELREGLT RMSMDLKNNL LGSLRMAWKS 600
    FTRAPYPALQ ASETPEETEA EPESTSEKPS DVNTEETSVA VKEEVLPINV 650
    GMLNGGQRID YVLQEKPIES FNEYLFALQS HLCYWESEDT VLLVLKEIYQ 700
    TQGIFLDQPL Q 711
    Length:711
    Mass (Da):81,032
    Last modified:November 13, 2007 - v2
    Checksum:i8C03CD9254B1DBFB
    GO
    Isoform 2 (identifier: O94830-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-381: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:330
    Mass (Da):37,682
    Checksum:i0480B54A739F2ABD
    GO

    Sequence cautioni

    The sequence AAH10504.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB14470.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti292 – 2921S → G in BAB14470. (PubMed:14702039)Curated
    Sequence conflicti376 – 3761D → G in BAA34445. (PubMed:9872452)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti186 – 1861T → M.1 Publication
    Corresponds to variant rs2306899 [ dbSNP | Ensembl ].
    VAR_036930
    Natural varianti660 – 6601D → H in SPG54. 1 Publication
    VAR_069574

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 381381Missing in isoform 2. 1 PublicationVSP_056087Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023218 mRNA. Translation: BAB14470.1. Different initiation.
    AK125904 mRNA. Translation: BAG54264.1.
    AK127040 mRNA. Translation: BAG54427.1.
    AC084024 Genomic DNA. No translation available.
    AC087362 Genomic DNA. No translation available.
    AB018268 mRNA. Translation: BAA34445.1.
    CH471080 Genomic DNA. Translation: EAW63324.1.
    BC010504 mRNA. Translation: AAH10504.1. Different initiation.
    CCDSiCCDS34883.1.
    RefSeqiNP_001157704.1. NM_001164232.1.
    NP_056029.2. NM_015214.2.
    XP_005273511.1. XM_005273454.1.
    XP_005273512.1. XM_005273455.1.
    XP_005273514.1. XM_005273457.1.
    UniGeneiHs.434966.

    Genome annotation databases

    EnsembliENST00000517385; ENSP00000429017; ENSG00000085788.
    GeneIDi23259.
    KEGGihsa:23259.
    UCSCiuc003xlb.3. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023218 mRNA. Translation: BAB14470.1 . Different initiation.
    AK125904 mRNA. Translation: BAG54264.1 .
    AK127040 mRNA. Translation: BAG54427.1 .
    AC084024 Genomic DNA. No translation available.
    AC087362 Genomic DNA. No translation available.
    AB018268 mRNA. Translation: BAA34445.1 .
    CH471080 Genomic DNA. Translation: EAW63324.1 .
    BC010504 mRNA. Translation: AAH10504.1 . Different initiation.
    CCDSi CCDS34883.1.
    RefSeqi NP_001157704.1. NM_001164232.1.
    NP_056029.2. NM_015214.2.
    XP_005273511.1. XM_005273454.1.
    XP_005273512.1. XM_005273455.1.
    XP_005273514.1. XM_005273457.1.
    UniGenei Hs.434966.

    3D structure databases

    ProteinModelPortali O94830.
    SMRi O94830. Positions 386-453.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116862. 2 interactions.
    IntActi O94830. 2 interactions.
    MINTi MINT-4649256.
    STRINGi 9606.ENSP00000380352.

    PTM databases

    PhosphoSitei O94830.

    Proteomic databases

    MaxQBi O94830.
    PaxDbi O94830.
    PRIDEi O94830.

    Protocols and materials databases

    DNASUi 23259.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000517385 ; ENSP00000429017 ; ENSG00000085788 .
    GeneIDi 23259.
    KEGGi hsa:23259.
    UCSCi uc003xlb.3. human.

    Organism-specific databases

    CTDi 23259.
    GeneCardsi GC08P038107.
    HGNCi HGNC:29106. DDHD2.
    HPAi CAB015202.
    HPA023143.
    HPA023147.
    HPA023150.
    MIMi 615003. gene.
    615033. phenotype.
    neXtProti NX_O94830.
    Orphaneti 320380. Autosomal recessive spastic paraplegia type 54.
    PharmGKBi PA128394618.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG285690.
    HOGENOMi HOG000007725.
    HOVERGENi HBG057256.
    InParanoidi O94830.
    KOi K16545.
    OMAi KDLQEMG.
    OrthoDBi EOG7JDQWX.
    PhylomeDBi O94830.
    TreeFami TF314133.

    Miscellaneous databases

    GenomeRNAii 23259.
    NextBioi 44992.
    PROi O94830.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O94830.
    Bgeei O94830.
    CleanExi HS_DDHD2.
    Genevestigatori O94830.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    InterProi IPR004177. DDHD.
    IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    IPR004170. WWE-dom.
    [Graphical view ]
    Pfami PF02862. DDHD. 1 hit.
    PF00536. SAM_1. 1 hit.
    PF02825. WWE. 1 hit.
    [Graphical view ]
    SMARTi SM00454. SAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    PROSITEi PS51043. DDHD. 1 hit.
    PS50918. WWE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125."
      Nakajima K., Sonoda H., Mizoguchi T., Aoki J., Arai H., Nagahama M., Tagaya M., Tani K.
      J. Biol. Chem. 277:11329-11335(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-351.
    2. "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: Brain and Testis.
    3. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 139-711 (ISOFORM 1), VARIANT MET-186.
      Tissue: Brain.
    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 220-711 (ISOFORM 1).
      Tissue: Placenta.
    7. "p125 is localized in endoplasmic reticulum exit sites and involved in their organization."
      Shimoi W., Ezawa I., Nakamoto K., Uesaki S., Gabreski G., Aridor M., Yamamoto A., Nagahama M., Tagaya M., Tani K.
      J. Biol. Chem. 280:10141-10148(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    8. "Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells."
      Sato S., Inoue H., Kogure T., Tagaya M., Tani K.
      FEBS Lett. 584:4389-4395(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-351.
    9. "Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p."
      Inoue H., Baba T., Sato S., Ohtsuki R., Takemori A., Watanabe T., Tagaya M., Tani K.
      Biochim. Biophys. Acta 1823:930-939(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PHOSPHOLIPID-BINDING, INTERACTION WITH DDHD1, HOMOOLIGOMER FORMATION, MUTAGENESIS OF SER-351; ARG-434; LYS-435 AND LYS-436.
    10. "Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia."
      Schuurs-Hoeijmakers J.H., Geraghty M.T., Kamsteeg E.J., Ben-Salem S., de Bot S.T., Nijhof B., van de Vondervoort I.I., van der Graaf M., Nobau A.C., Otte-Holler I., Vermeer S., Smith A.C., Humphreys P., Schwartzentruber J., Ali B.R., Al-Yahyaee S.A., Tariq S., Pramathan T.
      , Bayoumi R., Kremer H.P., van de Warrenburg B.P., van den Akker W.M., Gilissen C., Veltman J.A., Janssen I.M., Vulto-van Silfhout A.T., van der Velde-Visser S., Lefeber D.J., Diekstra A., Erasmus C.E., Willemsen M.A., Vissers L.E., Lammens M., van Bokhoven H., Brunner H.G., Wevers R.A., Schenck A., Al-Gazali L., de Vries B.B., de Brouwer A.P.
      Am. J. Hum. Genet. 91:1073-1081(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG54 HIS-660.

    Entry informationi

    Entry nameiDDHD2_HUMAN
    AccessioniPrimary (citable) accession number: O94830
    Secondary accession number(s): B3KWV2, B3KXB5, Q9H8X7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 98 of the entry and version 2 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 8
      Human chromosome 8: 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