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FLASH GENE
Symbol HS6ST1 contributors: mct - updated : 11-04-2012
HGNC name heparan sulfate 6-O-sulfotransferase 1
HGNC id 5201
Corresponding disease
HHI3 hypogonadism hypogonadotropic isolated 3
Location 2q14.3      Physical location : 129.023.054 - 129.076.171
Synonym name heparan-sulfate 6-sulfotransferase
Synonym symbol(s) HS6ST, DKFZp547H098, FLJ25392, HS6ST, MGC116899, MGC116901
EC.number 2.8.2.-
DNA
TYPE functioning gene
STRUCTURE 53.12 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC150554 2q21.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene GYPC 2q14-q21 glycophorin C (Gerbich blood group) LOC339760 2q21.1 hypothetical LOC339760 BIN1 2q14 bridging integrator 1 LOC389029 2 LOC389029 LOC339761 2q21.1 similar to 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor (Calcidiol 1-monooxygenase) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (P450C1 alpha) (P450VD1-alpha) ERCC3 2q21 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) MAP3K2 2q14.3 mitogen-activated protein kinase kinase kinase 2 LOC389030 2 LOC389030 PROC 2q13-q14 protein C (inactivator of coagulation factors Va and VIIIa) FLJ10006 2q21.1 hypothetical protein FLJ10006 LOC389031 2 similar to myosin-VIIb MYO7B 2q21.1 myosin VIIB LIMS2 2q14.2 LIM and senescent cell antigen-like domains 2 GPR17 2q21 G protein-coupled receptor 17 MGC5391 2q21.1 hypothetical protein MGC5391 FLJ11294 2q21.1 hypothetical protein FLJ11294 POLR2D 2q21 polymerase (RNA) II (DNA directed) polypeptide D MGC4268 2q21 hypothetical protein MGC4268 SAP130 2q21.1 mSin3A-associated protein 130 UGCGL1 2q14.2 UDP-glucose ceramide glucosyltransferase-like 1 HS6ST1 2q21 heparan sulfate 6-O-sulfotransferase 1 LOC391432 2 similar to hypothetical protein LOC389032 2 LOC389032 LOC391433 2 similar to peptidyl-Pro cis trans isomerase LOC391434 2 similar to hypothetical protein DKFZp434P0316 LOC389033 2 LOC389033 LOC150516 2q21.1 RAB6C, member RAS oncogene family pseudogene LOC285100 2q21.1 similar to Lck-associated signal transducer LAST LOC285101 2q21.1 similar to Oligophrenin 1 LOC389034 2 similar to hypothetical protein A230046P18 LOC344227 2q21.2 similar to pote protein; Expressed in prostate, ovary, testis, and placenta DKFZp434E2321 2q21.2 hypothetical protein DKFZp434E2321 FLJ20297 2q21.2 hypothetical protein FLJ20297 FLJ14346 2q21.2 hypothetical protein FLJ14346 LOC112714 2q21.2 similar to alpha tubulin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 3966 48.1 411 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal transmembrane domain
  • two potential N glycosylation sites and cleavage site near the C terminus
    • HOMOLOGY
    interspecies ortholog to murine Hs6st1
    Homologene
    FAMILY
  • sulfotransferase 6 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type II integral membrane protein
    basic FUNCTION
  • transfering a sulfate from 3-prime_phosphoadenosine 5-prime phosphosulfate to position 6 of the N-sulfoglucosamine residue of heparan sulfate
  • extracellular matrix maintenance
  • HS2ST1 and HS6ST1 are each deployed to generate distinct patterns of heparan sulfation on retinal ganglion cell and at the optic chiasm
  • important gene that contributes pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction
    • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS excretion
    PATHWAY
    metabolism other
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHI3
    Susceptibility
    Variant & Polymorphism
    Candidate gene premature ovarian failure (POF1)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Hs6st1-null mice failed to thrive and exhibited growth retardation, body weight loss, enlargement of airspaces in the lung and, in some cases, lethality