Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

A4D126

- ISPD_HUMAN

UniProt

A4D126 - ISPD_HUMAN

Protein

Isoprenoid synthase domain-containing protein

Gene

ISPD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 57 (01 Oct 2014)
      Sequence version 2 (22 Jul 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation.2 Publications

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei59 – 591Transition state stabilizerBy similarity
    Sitei66 – 661Transition state stabilizerBy similarity
    Sitei205 – 2051Positions substrate for the nucleophilic attackBy similarity
    Sitei263 – 2631Positions substrate for the nucleophilic attackBy similarity

    GO - Molecular functioni

    1. nucleotidyltransferase activity Source: UniProtKB-KW

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. isoprenoid biosynthetic process Source: InterPro
    3. protein O-linked mannosylation Source: UniProtKB

    Keywords - Molecular functioni

    Nucleotidyltransferase, Transferase

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Isoprenoid synthase domain-containing protein (EC:2.7.7.-)
    Alternative name(s):
    2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
    Gene namesi
    Name:ISPD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:37276. ISPD.

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931Missing in MDDGA7. 1 Publication
    VAR_069740
    Natural varianti122 – 1221A → P in MDDGA7. 1 Publication
    VAR_068101
    Natural varianti126 – 1261R → H in MDDGA7. 1 Publication
    VAR_068102
    Natural varianti156 – 1561D → N in MDDGA7. 1 Publication
    VAR_069741
    Natural varianti213 – 2131M → R in MDDGA7. 1 Publication
    VAR_069742
    Natural varianti216 – 2161A → D in MDDGA7. 1 Publication
    VAR_068103
    Natural varianti226 – 2261Y → H in MDDGA7. 1 Publication
    VAR_069743
    Natural varianti238 – 2381T → I in MDDGA7. 1 Publication
    VAR_069744

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

    Organism-specific databases

    MIMi614643. phenotype.
    Orphaneti352479. Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency.
    370980. Congenital muscular dystrophy without intellectual disability.
    899. Walker-Warburg syndrome.
    PharmGKBiPA165618128.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 451451Isoprenoid synthase domain-containing proteinPRO_0000343697Add
    BLAST

    Proteomic databases

    MaxQBiA4D126.
    PaxDbiA4D126.
    PRIDEiA4D126.

    PTM databases

    PhosphoSiteiA4D126.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed, with high expression in brain.1 Publication

    Gene expression databases

    BgeeiA4D126.
    GenevestigatoriA4D126.

    Organism-specific databases

    HPAiHPA043810.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000385478.

    Structurei

    3D structure databases

    ProteinModelPortaliA4D126.
    SMRiA4D126. Positions 49-279.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the IspD family.Curated

    Phylogenomic databases

    eggNOGiCOG1211.
    HOGENOMiHOG000113111.
    HOVERGENiHBG057782.
    InParanoidiA4D126.
    OMAiCYNFVCV.
    OrthoDBiEOG7KDFB2.
    PhylomeDBiA4D126.
    TreeFamiTF328415.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR001228. IspD.
    IPR018294. ISPD_synthase_CS.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF01128. IspD. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.
    PROSITEiPS01295. ISPD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A4D126-1) [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

    MEAGPPGSAR PAEPGPCLSG QRGADHTASA SLQSVAGTEP GRHPQAVAAV    50
    LPAGGCGERM GVPTPKQFCP ILERPLISYT LQALERVCWI KDIVVAVTGE 100
    NMEVMKSIIQ KYQHKRISLV EAGVTRHRSI FNGLKALAED QINSKLSKPE 150
    VVIIHDAVRP FVEEGVLLKV VTAAKEHGAA GAIRPLVSTV VSPSADGCLD 200
    YSLERARHRA SEMPQAFLFD VIYEAYQQCS DYDLEFGTEC LQLALKYCCT 250
    KAKLVEGSPD LWKVTYKRDL YAAESIIKER ISQEICVVMD TEEDNKHVGH 300
    LLEEVLKSEL NHVKVTSEAL GHAGRHLQQI ILDQCYNFVC VNVTTSDFQE 350
    TQKLLSMLEE SSLCILYPVV VVSVHFLDFK LVPPSQKMEN LMQIREFAKE 400
    VKERNILLYG LLISYPQDDQ KLQESLRQGA IIIASLIKER NSGLIGQLLI 450
    A 451
    Length:451
    Mass (Da):49,873
    Last modified:July 22, 2008 - v2
    Checksum:i988B9D1CFE98935C
    GO
    Isoform 2 (identifier: A4D126-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         179-228: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:401
    Mass (Da):44,389
    Checksum:i3FF08B999A88E45F
    GO

    Sequence cautioni

    The sequence EAL24288.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931Missing in MDDGA7. 1 Publication
    VAR_069740
    Natural varianti122 – 1221A → P in MDDGA7. 1 Publication
    VAR_068101
    Natural varianti126 – 1261R → H in MDDGA7. 1 Publication
    VAR_068102
    Natural varianti156 – 1561D → N in MDDGA7. 1 Publication
    VAR_069741
    Natural varianti213 – 2131M → R in MDDGA7. 1 Publication
    VAR_069742
    Natural varianti216 – 2161A → D in MDDGA7. 1 Publication
    VAR_068103
    Natural varianti226 – 2261Y → H in MDDGA7. 1 Publication
    VAR_069743
    Natural varianti238 – 2381T → I in MDDGA7. 1 Publication
    VAR_069744

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei179 – 22850Missing in isoform 2. CuratedVSP_044044Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004741 Genomic DNA. No translation available.
    AC006035 Genomic DNA. No translation available.
    AC073629 Genomic DNA. No translation available.
    AC079155 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24288.1. Sequence problems.
    CH471073 Genomic DNA. Translation: EAW93668.1.
    RefSeqiNP_001094887.1. NM_001101417.3. [A4D126-2]
    NP_001094896.1. NM_001101426.3. [A4D126-1]
    UniGeneiHs.636502.

    Genome annotation databases

    EnsembliENST00000399310; ENSP00000382249; ENSG00000214960. [A4D126-2]
    ENST00000407010; ENSP00000385478; ENSG00000214960. [A4D126-1]
    GeneIDi729920.
    KEGGihsa:729920.
    UCSCiuc010ktx.2. human. [A4D126-1]
    uc010kty.2. human. [A4D126-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC004741 Genomic DNA. No translation available.
    AC006035 Genomic DNA. No translation available.
    AC073629 Genomic DNA. No translation available.
    AC079155 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24288.1 . Sequence problems.
    CH471073 Genomic DNA. Translation: EAW93668.1 .
    RefSeqi NP_001094887.1. NM_001101417.3. [A4D126-2 ]
    NP_001094896.1. NM_001101426.3. [A4D126-1 ]
    UniGenei Hs.636502.

    3D structure databases

    ProteinModelPortali A4D126.
    SMRi A4D126. Positions 49-279.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000385478.

    PTM databases

    PhosphoSitei A4D126.

    Proteomic databases

    MaxQBi A4D126.
    PaxDbi A4D126.
    PRIDEi A4D126.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000399310 ; ENSP00000382249 ; ENSG00000214960 . [A4D126-2 ]
    ENST00000407010 ; ENSP00000385478 ; ENSG00000214960 . [A4D126-1 ]
    GeneIDi 729920.
    KEGGi hsa:729920.
    UCSCi uc010ktx.2. human. [A4D126-1 ]
    uc010kty.2. human. [A4D126-2 ]

    Organism-specific databases

    CTDi 729920.
    GeneCardsi GC07M016098.
    GeneReviewsi ISPD.
    HGNCi HGNC:37276. ISPD.
    HPAi HPA043810.
    MIMi 614631. gene.
    614643. phenotype.
    neXtProti NX_A4D126.
    Orphaneti 352479. Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency.
    370980. Congenital muscular dystrophy without intellectual disability.
    899. Walker-Warburg syndrome.
    PharmGKBi PA165618128.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1211.
    HOGENOMi HOG000113111.
    HOVERGENi HBG057782.
    InParanoidi A4D126.
    OMAi CYNFVCV.
    OrthoDBi EOG7KDFB2.
    PhylomeDBi A4D126.
    TreeFami TF328415.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    GenomeRNAii 729920.
    NextBioi 131766.
    PROi A4D126.
    SOURCEi Search...

    Gene expression databases

    Bgeei A4D126.
    Genevestigatori A4D126.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR001228. IspD.
    IPR018294. ISPD_synthase_CS.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF01128. IspD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    PROSITEi PS01295. ISPD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: FUNCTION, VARIANT MDDGA7 ILE-93 DEL, TISSUE SPECIFICITY.
    4. Cited for: VARIANTS MDDGA7 ASN-156; ARG-213; HIS-226 AND ILE-238.
    5. Cited for: VARIANTS MDDGA7 PRO-122; HIS-126 AND ASP-216, FUNCTION.

    Entry informationi

    Entry nameiISPD_HUMAN
    AccessioniPrimary (citable) accession number: A4D126
    Secondary accession number(s): A8MU35, H9KVB2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 22, 2008
    Last sequence update: July 22, 2008
    Last modified: October 1, 2014
    This is version 57 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 7
      Human chromosome 7: 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