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A4D126

- ISPD_HUMAN

UniProt

A4D126 - ISPD_HUMAN

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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

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 stabilizer By similarity
Sitei66 – 661Transition state stabilizer By similarity
Sitei205 – 2051Positions substrate for the nucleophilic attack By similarity
Sitei263 – 2631Positions substrate for the nucleophilic attack By 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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.

Family & Domainsi

Sequence similaritiesi

Belongs to the IspD family.

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. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 56 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

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