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Protein

Phospholipase DDHD2

Gene

DDHD2

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

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

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:29106. DDHD2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 54, autosomal recessive (SPG54)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:615033
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.

Polymorphism and mutation databases

BioMutaiDDHD2.

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

BgeeiO94830.
CleanExiHS_DDHD2.
ExpressionAtlasiO94830. baseline and differential.
GenevisibleiO94830. HS.

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. 8 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.
GeneTreeiENSGT00530000063155.
HOGENOMiHOG000007725.
HOVERGENiHBG057256.
InParanoidiO94830.
KOiK16545.
OMAiNYKFPTC.
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. AlignAdd to basket

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

        10         20         30         40         50
MSSVQSQQEQ LSQSDPSPSP NSCSSFELID MDAGSLYEPV SPHWFYCKII
60 70 80 90 100
DSKETWIPFN SEDSQQLEEA YSSGKGCNGR VVPTDGGRYD VHLGERMRYA
110 120 130 140 150
VYWDELASEV RRCTWFYKGD KDNKYVPYSE SFSQVLEETY MLAVTLDEWK
160 170 180 190 200
KKLESPNREI IILHNPKLMV HYQPVAGSDD WGSTPTEQGR PRTVKRGVEN
210 220 230 240 250
ISVDIHCGEP LQIDHLVFVV HGIGPACDLR FRSIVQCVND FRSVSLNLLQ
260 270 280 290 300
THFKKAQENQ QIGRVEFLPV NWHSPLHSTG VDVDLQRITL PSINRLRHFT
310 320 330 340 350
NDTILDVFFY NSPTYCQTIV DTVASEMNRI YTLFLQRNPD FKGGVSIAGH
360 370 380 390 400
SLGSLILFDI LTNQKDSLGD IDSEKDSLNI VMDQGDTPTL EEDLKKLQLS
410 420 430 440 450
EFFDIFEKEK VDKEALALCT DRDLQEIGIP LGPRKKILNY FSTRKNSMGI
460 470 480 490 500
KRPAPQPASG ANIPKESEFC SSSNTRNGDY LDVGIGQVSV KYPRLIYKPE
510 520 530 540 550
IFFAFGSPIG MFLTVRGLKR IDPNYRFPTC KGFFNIYHPF DPVAYRIEPM
560 570 580 590 600
VVPGVEFEPM LIPHHKGRKR MHLELREGLT RMSMDLKNNL LGSLRMAWKS
610 620 630 640 650
FTRAPYPALQ ASETPEETEA EPESTSEKPS DVNTEETSVA VKEEVLPINV
660 670 680 690 700
GMLNGGQRID YVLQEKPIES FNEYLFALQS HLCYWESEDT VLLVLKEIYQ
710
TQGIFLDQPL Q
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.Curated
The sequence BAB14470.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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. [O94830-1]
RefSeqiNP_001157704.1. NM_001164232.1. [O94830-1]
NP_056029.2. NM_015214.2. [O94830-1]
XP_005273511.1. XM_005273454.1. [O94830-1]
XP_005273512.1. XM_005273455.2. [O94830-1]
XP_005273514.1. XM_005273457.2. [O94830-2]
XP_011542757.1. XM_011544455.1. [O94830-1]
XP_011542758.1. XM_011544456.1. [O94830-1]
UniGeneiHs.434966.

Genome annotation databases

EnsembliENST00000397166; ENSP00000380352; ENSG00000085788.
ENST00000517385; ENSP00000429017; ENSG00000085788. [O94830-2]
ENST00000520272; ENSP00000429932; ENSG00000085788.
GeneIDi23259.
KEGGihsa:23259.
UCSCiuc003xlb.3. human. [O94830-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [O94830-1]
RefSeqiNP_001157704.1. NM_001164232.1. [O94830-1]
NP_056029.2. NM_015214.2. [O94830-1]
XP_005273511.1. XM_005273454.1. [O94830-1]
XP_005273512.1. XM_005273455.2. [O94830-1]
XP_005273514.1. XM_005273457.2. [O94830-2]
XP_011542757.1. XM_011544455.1. [O94830-1]
XP_011542758.1. XM_011544456.1. [O94830-1]
UniGeneiHs.434966.

3D structure databases

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

Protein-protein interaction databases

BioGridi116862. 8 interactions.
IntActiO94830. 2 interactions.
MINTiMINT-4649256.
STRINGi9606.ENSP00000380352.

PTM databases

PhosphoSiteiO94830.

Polymorphism and mutation databases

BioMutaiDDHD2.

Proteomic databases

MaxQBiO94830.
PaxDbiO94830.
PRIDEiO94830.

Protocols and materials databases

DNASUi23259.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397166; ENSP00000380352; ENSG00000085788.
ENST00000517385; ENSP00000429017; ENSG00000085788. [O94830-2]
ENST00000520272; ENSP00000429932; ENSG00000085788.
GeneIDi23259.
KEGGihsa:23259.
UCSCiuc003xlb.3. human. [O94830-1]

Organism-specific databases

CTDi23259.
GeneCardsiGC08P038107.
HGNCiHGNC:29106. DDHD2.
HPAiCAB015202.
HPA023143.
HPA023147.
HPA023150.
MIMi615003. gene.
615033. phenotype.
neXtProtiNX_O94830.
Orphaneti320380. Autosomal recessive spastic paraplegia type 54.
PharmGKBiPA128394618.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG285690.
GeneTreeiENSGT00530000063155.
HOGENOMiHOG000007725.
HOVERGENiHBG057256.
InParanoidiO94830.
KOiK16545.
OMAiNYKFPTC.
OrthoDBiEOG7JDQWX.
PhylomeDBiO94830.
TreeFamiTF314133.

Miscellaneous databases

GenomeRNAii23259.
NextBioi35470564.
PROiO94830.
SOURCEiSearch...

Gene expression databases

BgeeiO94830.
CleanExiHS_DDHD2.
ExpressionAtlasiO94830. baseline and differential.
GenevisibleiO94830. HS.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: July 22, 2015
This is version 104 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

Caution

It is uncertain whether Met-1 or Met-31 is the initiator.Curated

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.