KEGG   Homo sapiens (human): 6444Help
Entry
6444              CDS       T01001                                 

Gene name
SGCD, 35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD
Definition
(RefSeq) sarcoglycan delta
  KO
K12563  delta-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
hsa05416  Viral myocarditis
Disease
H00294  Dilated cardiomyopathy (DCM)
H00565  Sarcoglycanopathies
H00593  Limb-girdle muscular dystrophy (LGMD)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09165 Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    6444 (SGCD)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    6444 (SGCD)
   05414 Dilated cardiomyopathy (DCM)
    6444 (SGCD)
   05416 Viral myocarditis
    6444 (SGCD)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Sarcoglycan_1 DUF2345
Motif
Other DBs
NCBI-GeneID: 6444
NCBI-ProteinID: NP_001121681
OMIM: 601411
HGNC: 10807
Ensembl: ENSG00000170624
Vega: OTTHUMG00000163445
Pharos: Q92629(Tbio)
UniProt: Q92629
Position
5q33.2-q33.3
AA seq 289 aa AA seqDB search
MPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMILILVNLAMTIWILKVMN
FTIDGMGNLRITEKGLKLEGDSEFLQPLYAKEIQSRPGNALYFKSARNVTVNILNDQTKV
LTQLITGPKAVEAYGKKFEVKTVSGKLLFSADNNEVVVGAERLRVLGAEGTVFPKSIETP
NVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCRTELRLESKDGEIKLDAAKI
RLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGSTCQINTSVCL
NT seq 870 nt NT seq  +upstreamnt  +downstreamnt
atgcctcaggagcagtacactcaccaccggagcaccatgcctggctctgtggggccacag
gtatacaaggtggggatttatggctggcggaaacgatgcctgtatttctttgtcctgctc
ctcatgattttaatactggtgaacttggccatgaccatctggattctcaaagtcatgaac
ttcacaattgatggaatgggaaacctgaggatcacagaaaaaggtctaaagctagaagga
gactctgaattcttacaacctctctacgccaaagaaatccagtcccgaccaggtaatgcc
ctgtacttcaagtctgccagaaatgttacagtgaacattctcaatgaccagactaaagtg
ctaactcagcttataacaggtccaaaagccgtagaagcttatggtaaaaaatttgaggta
aaaactgtttctggaaaattgctcttctctgcagacaataatgaagtggtagtaggagct
gaaagattacgagttttaggagcggagggcacagtgttccctaaatctatagaaacacct
aatgtcagggcagaccccttcaaagaactaaggttggagtccccaacccggtctctagtg
atggaggccccaaaaggagtggaaatcaatgcagaagctggcaatatggaagccacctgc
aggacagagctgagactggaatccaaagatggagagattaagttagatgctgcgaaaatc
aggctacctagactgcctcatggatcctacacgcctacaggaacgaggcagaaggtcttc
gagatctgcgtctgcgccaatgggagattattcctgtctcaggcaggagctgggtccact
tgtcagataaacacaagtgtctgcctctga

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