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Results for the Protein: Q12840
143811412

KIF5A_HUMAN RecName: Full=Kinesin heavy chain isoform 5A; AltName: Full=Kinesin heavy chain neuron-specific 1; AltName: Full=Neuronal kinesin heavy chain; Short=NKHC

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 10
  SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
  SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY
  SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (SPG10)
22
0
9
0
13
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Default View:

KIP1 - COG5059
KISc_BimC_Eg5 - cd01364
KISc_KIF3 - cd01371
KISc_KHC_KIF5 - cd01369
KISc_KIF1A_KIF1B - cd01365
KISc_KIF4 - cd01372
KISc_KIF2_like - cd01367
KISc_KLP2_like - cd01373
KISc_KIF9_like - cd01375
KISc - smart00129
KISc_KID_like - cd01376
KISc_KIF23_like - cd01368
KISc_C_terminal - cd01366
KISc_CENP_E - cd01374
KISc_KIP3_like - cd01370
KISc - cd00106
Motor_domain - cd01363
Kinesin - pfam00225


Swiss-Prot Protein: Q12840
Identical to: NP_004975
   Default View:




















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
KISc_BimC_Eg5cd013642.7e-807336
KISc_KHC_KIF5cd013691e-2537327
KISc_KIF3cd013714.4e-1127327
KISc_KIF2_likecd013672.3e-638325
KISc_KLP2_likecd013731.3e-958327
KISc_KIF4cd013722.5e-1108328
KISc_KIF1A_KIF1Bcd013655.7e-928334
KISccd001065.6e-1659325
KISc_KIF23_likecd013682.5e-339325
KISc_C_terminalcd013661.1e-1129330
KISc_KIP3_likecd013701.3e-909327
KISc_CENP_Ecd013742.5e-1049327
KISc_KID_likecd013761.3e-719325
KISc_KIF9_likecd013751.4e-749325
Motor_domaincd013634.3e-13912306
KIP1COG50591.3e-922533
Kinesinpfam002259.6e-16615327
KIScsmart001291.4e-1669334

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032844Diseasep.ALA361VALSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_032843Diseasep.ARG280CYSSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058743Diseasep.ARG204GLNSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058747Diseasep.ARG280HISSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058748Diseasep.ARG280LEUSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_032842Diseasep.ASN256SERSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058744Diseasep.GLU251LYSSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_046744Diseasep.LYS253ASNSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058746Diseasep.LYS257ASNSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058742Diseasep.MET198THRSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_066616Diseasep.SER203CYSSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_033108Diseasep.TYR276CYSSpastic paraplegia 10, autosomal dominant (SPG10)
Swiss-ProtVAR_058741Diseasep.TYR63CYSSpastic paraplegia 10, autosomal dominant (SPG10)
OMIM602821.0004 Diseasep.ALA361VALSPASTIC PARAPLEGIA 10
OMIM602821.0002 Diseasep.ARG280CYSSPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
OMIM602821.0006 Diseasep.ARG204GLNSPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY
OMIM602821.0007 Diseasep.ARG280HISSPASTIC PARAPLEGIA 10
OMIM602821.0001 Diseasep.ASN256SERSPASTIC PARAPLEGIA 10
OMIM602821.0005 Diseasep.GLU251LYSSPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
OMIM602821.0008 Diseasep.GLU755LYSSPASTIC PARAPLEGIA 10
OMIM602821.0009 Diseasep.GLY235GLUSPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY
OMIM602821.0003 Diseasep.TYR276CYSSPASTIC PARAPLEGIA 10



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