Homo sapiens (human): 6683 Help Entry 6683              CDS       T01001                                  Symbol SPAST, ADPSP, FSP2, SPG4 Name (RefSeq) spastin   KO K13254   spastin [EC:5.6.1.1] Organism hsa  Homo sapiens (human) Network nt06541  Cytoskeleton in neurons   Element N01839   Severing of microtubule, SPAST/KATN Disease H00266   Hereditary spastic paraplegia Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     6683 (SPAST)   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     6683 (SPAST) Enzymes [BR:hsa01000]  5. Isomerases   5.6  Isomerases altering macromolecular conformation    5.6.1  Enzymes altering polypeptide conformation or assembly     5.6.1.1  microtubule-severing ATPase      6683 (SPAST) Membrane trafficking [BR:hsa04131]  Endoplasmic reticulum (ER) - Golgi transport   Others    Others     6683 (SPAST) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Microtubules    Tubulin-binding proteins     Microtubule severing proteins      6683 (SPAST) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  AAA AAA_lid_3 Vps4_C RuvB_N AAA_5 AAA_22 TIP49 AAA_16 AAA_14 Mg_chelatase MIT DUF815 IstB_IS21 AAA_24 nSTAND3 NPHP3_N AAA_2 DUF4368 Motif Other DBs NCBI-GeneID:  6683 NCBI-ProteinID:  NP_055761 OMIM:  604277 HGNC:  11233 Ensembl:  ENSG00000021574 UniProt:  Q9UBP0 E5KRP5 Structure PDBPDBj LinkDB All DBs Position 2:32063556..32157637 Genome browser AA seq 616 aa AA seqDB search MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVG FALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAPAPVPGGEAERVRVFH KQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAK MMTNLVMAKDRLQLLEKMQPVLPFSKSQTDVYNDSTNLACRNGHLQSESGAVPKRKDPLT HTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNK PSTPTTATRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVIL PSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGE KLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRV LVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQGSPLTQKELAQLARM TDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASEMRNIRLSDFTESLKKIKRSVSPQT LEAYIRWNKDFGDTTV NT seq 1851 nt NT seq  +upstreamnt  +downstreamnt atgaattctccgggtggacgagggaagaagaaaggctccggcggcgccagcaacccggtg cctcccaggcctccgcccccttgcctggcccccgcccctcccgccgccgggccggcccct ccgcccgagtcgccgcataagcggaacctgtactatttctcctacccgctgtttgtaggc ttcgcgctgctgcgtttggtcgccttccacctggggctcctcttcgtgtggctctgccag cgcttctcccgcgccctcatggcagccaagaggagctccggggccgcgccagcacctgcc tcggcctcggccccggcgccggtgccgggcggcgaggccgagcgcgtccgagtcttccac aaacaggccttcgagtacatctccattgccctgcgcatcgatgaggatgagaaagcagga cagaaggagcaagctgtggaatggtataagaaaggtattgaagaactggaaaaaggaata gctgttatagttacaggacaaggtgaacagtgtgaaagagctagacgccttcaagctaaa atgatgactaatttggttatggccaaggaccgcttacaacttctagagaagatgcaacca gttttgccattttccaagtcacaaacggacgtctataatgacagtactaacttggcatgc cgcaatggacatctccagtcagaaagtggagctgttccaaaaagaaaagaccccttaaca cacactagtaattcactgcctcgttcaaaaacagttatgaaaactggatctgcaggcctt tcaggccaccatagagcacctagttacagtggtttatccatggtttctggagtgaaacag ggatctggtcctgctcctaccactcataagggtactccgaaaacaaataggacaaataaa ccttctacccctacaactgctactcgtaagaaaaaagacttgaagaattttaggaatgtg gacagcaaccttgctaaccttataatgaatgaaattgtggacaatggaacagctgttaaa tttgatgatatagctggtcaagacttggcaaaacaagcattgcaagaaattgttattctt ccttctctgaggcctgagttgttcacagggcttagagctcctgccagagggctgttactc tttggtccacctgggaatgggaagacaatgctggctaaagcagtagctgcagaatcgaat gcaaccttctttaatataagtgctgcaagtttaacttcaaaatacgtgggagaaggagag aaattggtgagggctctttttgctgtggctcgagaacttcaaccttctataatttttata gatgaagttgatagccttttgtgtgaaagaagagaaggggagcacgatgctagtagacgc ctaaaaactgaatttctaatagaatttgatggtgtacagtctgctggagatgacagagta cttgtaatgggtgcaactaataggccacaagagcttgatgaggctgttctcaggcgtttc atcaaacgggtatatgtgtctttaccaaatgaggagacaagactacttttgcttaaaaat ctgttatgtaaacaaggaagtccattgacccaaaaagaactagcacaacttgctagaatg actgatggatactcaggaagtgacctaacagctttggcaaaagatgcagcactgggtcct atccgagaactaaaaccagaacaggtgaagaatatgtctgccagtgagatgagaaatatt cgattatctgacttcactgaatccttgaaaaaaataaaacgcagcgtcagccctcaaact ttagaagcgtacatacgttggaacaaggactttggagataccactgtttaa

Homo sapiens (human): 11104 Help Entry 11104             CDS       T01001                                  Symbol KATNA1 Name (RefSeq) katanin catalytic subunit A1   KO K07767   katanin p60 ATPase-containing subunit A1 [EC:5.6.1.1] Organism hsa  Homo sapiens (human) Network nt06541  Cytoskeleton in neurons   Element N01839   Severing of microtubule, SPAST/KATN Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     11104 (KATNA1) Enzymes [BR:hsa01000]  5. Isomerases   5.6  Isomerases altering macromolecular conformation    5.6.1  Enzymes altering polypeptide conformation or assembly     5.6.1.1  microtubule-severing ATPase      11104 (KATNA1) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Microtubules    Tubulin-binding proteins     Microtubule severing proteins      11104 (KATNA1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  AAA KATNA1_MIT AAA_lid_3 Vps4_C RuvB_N AAA_33 AAA_5 TIP49 AAA_14 AAA_22 NPHP3_N Mg_chelatase AAA_7 AAA_16 AAA_2 IstB_IS21 AAA_28 TsaE nSTAND3 PhoH SRPRB AAA_17 ABC_tran AAA_18 RNA_helicase TPR_1 Sigma54_activ_2 TPR_8 Motif Other DBs NCBI-GeneID:  11104 NCBI-ProteinID:  NP_008975 OMIM:  606696 HGNC:  6216 Ensembl:  ENSG00000186625 UniProt:  O75449 A8K7S5 Structure PDBPDBj LinkDB All DBs Position 6:complement(149594873..149648990) Genome browser AA seq 491 aa AA seqDB search MSLLMISENVKLAREYALLGNYDSAMVYYQGVLDQMNKYLYSVKDTYLQQKWQQVWQEIN VEAKHVKDIMKTLESFKLDSTPLKAAQHDLPASEGEVWSMPVPVERRPSPGPRKRQSSQY SDPKSHGNRPSTTVRVHRSSAQNVHNDRGKAVRCREKKEQNKGREEKNKSPAAVTEPETN KFDSTGYDKDLVEALERDIISQNPNVRWDDIADLVEAKKLLKEAVVLPMWMPEFFKGIRR PWKGVLMVGPPGTGKTLLAKAVATECKTTFFNVSSSTLTSKYRGESEKLVRLLFEMARFY SPATIFIDEIDSICSRRGTSEEHEASRRVKAELLVQMDGVGGTSENDDPSKMVMVLAATN FPWDIDEALRRRLEKRIYIPLPSAKGREELLRISLRELELADDVDLASIAENMEGYSGAD ITNVCRDASLMAMRRRIEGLTPEEIRNLSKEEMHMPTTMEDFEMALKKVSKSVSAADIER YEKWIFEFGSC NT seq 1476 nt NT seq  +upstreamnt  +downstreamnt atgagtcttcttatgattagtgagaatgtaaaattggctcgtgaatatgcattgctggga aactatgactctgcgatggtctattatcagggagttcttgaccaaatgaacaagtatctg tactcagtcaaagatacatacctccagcagaaatggcaacaggtttggcaggaaataaat gtggaagctaaacatgttaaagatatcatgaaaacactagagagctttaaactggacagc actcccttgaaagcggcacagcatgaccttccagcttctgagggagaagtctggtccatg cctgtacctgttgaacgaagaccctcaccaggacctagaaaacgccaatcttctcagtac agtgaccctaaatcacatggtaatcgtccaagtacaactgtcagagttcaccgttcatct gcacagaatgttcacaatgacagagggaaagctgttcgttgtcgtgaaaagaaagaacag aataaaggaagagaggaaaagaacaaatcacctgctgcagtaacagaaccagagacaaat aaatttgatagtaccggatatgataaagacttagtagaagctttggaaagagatataatt tcccagaatcccaatgttcgatgggatgatatcgctgatttagtagaagctaaaaagttg cttaaggaagccgtagtgttaccaatgtggatgcccgaattctttaagggcattaggaga ccatggaaaggagtactgatggtcggcccacctggcacggggaagacgctccttgctaaa gcagtagctacagaatgcaagacaacattcttcaatgtctcttcatcaactttgacttcc aaatacagaggagaatctgagaagcttgttcgtcttctgtttgaaatggctcgattttat tctccagccaccatatttattgatgagatagactccatctgtagtcgccgagggacttct gaagaacatgaagcaagcagaagggtgaaagcggagctgctggttcagatggatggtgtt ggaggtacttctgaaaatgatgacccttccaaaatggttatggttctggcagctactaat tttccctgggatatagatgaggctttaagacgacgccttgagaaacgaatctatattcct ttgccgtcagcaaaaggcagggaggagctattacgaataagtctacgtgagttggaattg gctgatgatgttgaccttgcaagtatagcagaaaacatggaaggttattcaggtgcggac attaccaacgtgtgcagggatgcgtccttgatggcaatgagaaggcgcattgaaggtttg actccagaggaaatccgaaatctttccaaagaagaaatgcacatgcctacaactatggag gatttcgagatggctttaaaaaaggtttctaagtcagtgtctgctgcagacattgaaaga tacgagaaatggatatttgagtttggatcatgctaa

Homo sapiens (human): 10300 Help Entry 10300             CDS       T01001                                  Symbol KATNB1, KAT, LIS6 Name (RefSeq) katanin regulatory subunit B1   KO K18643   katanin p80 WD40 repeat-containing subunit B1 Organism hsa  Homo sapiens (human) Network nt06541  Cytoskeleton in neurons   Element N01839   Severing of microtubule, SPAST/KATN Disease H00268   Lissencephaly Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     10300 (KATNB1) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Microtubules    Tubulin-binding proteins     Microtubule severing proteins      10300 (KATNB1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  WD40 Katanin_con80 WD40_Prp19 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_EML_2 Beta-prop_WDR90_POC16_2nd WDR55 EIF3I Beta-prop_TEP1_2nd Beta-prop_CAF1B_HIR1 WD40_MABP1-WDR62_2nd ANAPC4_WD40 Beta-prop_SCAP Beta-prop_EML Beta-prop_DCAF4 Beta-prop_WDR75_1st Beta-prop_TEP1_C WD40_MABP1-WDR62_1st NBCH_WD40 Beta-prop_SPT8 Beta-prop_EIPR1 Beta-prop_IFT122_1st WDR90_beta-prop_4th Beta-prop_Vps41 Beta-prop_IFT140_1st Beta-prop_HPS5 WD40_RFWD3 Beta-prop_RIG_1st Beta-prop_WDR19_1st RMC1_N eIF2A WDR54 Beta-prop_IP5PC_F PROPPIN Beta-prop_NWD2_C Beta-prop_LRRK2 VPS8_N Beta-prop_WDR35_TULP_N Beta-prop_VPS8 Ge1_WD40 Motif Other DBs NCBI-GeneID:  10300 NCBI-ProteinID:  NP_005877 OMIM:  602703 HGNC:  6217 Ensembl:  ENSG00000140854 UniProt:  Q9BVA0 LinkDB All DBs Position 16:57735770..57757244 Genome browser AA seq 655 aa AA seqDB search MATPVVTKTAWKLQEIVAHASNVSSLVLGKASGRLLATGGDDCRVNLWSINKPNCIMSLT GHTSPVESVRLNTPEELIVAGSQSGSIRVWDLEAAKILRTLMGHKANICSLDFHPYGEFV ASGSQDTNIKLWDIRRKGCVFRYRGHSQAVRCLRFSPDGKWLASAADDHTVKLWDLTAGK MMSEFPGHTGPVNVVEFHPNEYLLASGSSDRTIRFWDLEKFQVVSCIEGEPGPVRSVLFN PDGCCLYSGCQDSLRVYGWEPERCFDVVLVNWGKVADLAICNDQLIGVAFSQSNVSSYVV DLTRVTRTGTVARDPVQDHRPLAQPLPNPSAPLRRIYERPSTTCSKPQRVKQNSESERRS PSSEDDRDERESRAEIQNAEDYNEIFQPKNSISRTPPRRSEPFPAPPEDDAATAKEAAKP SPAMDVQFPVPNLEVLPRPPVVASTPAPKAEPAIIPATRNEPIGLKASDFLPAVKIPQQA ELVDEDAMSQIRKGHDTMCVVLTSRHKNLDTVRAVWTMGDIKTSVDSAVAINDLSVVVDL LNIVNQKASLWKLDLCTTVLPQIEKLLQSKYESYVQTGCTSLKLILQRFLPLITDMLAAP PSVGVDISREERLHKCRLCYKQLKSISGLVKSKSGLSGRHGSTFRELHLLMASLD NT seq 1968 nt NT seq  +upstreamnt  +downstreamnt atggccacccctgtggtcaccaagacagcctggaagttgcaagagatcgtcgcgcatgcc agcaacgtgtcctcactggtgctgggcaaagcctccgggcggctgctggctacaggcggg gatgactgccgcgtcaacctgtggtccatcaacaagcccaactgcatcatgagcctgacg ggccacacatccccagtggagagcgtccgcctcaacacccccgaggagctcatcgtggcc ggctctcagtcgggctccatccgtgtctgggacctggaagctgccaaaattcttcgcaca ctcatgggacacaaagccaacatctgcagcctggatttccacccgtacggcgagtttgta gcctctggttcccaggacacaaacatcaagctctgggacatcaggaggaaaggctgtgtc ttccgatacagggggcacagccaggccgtgcggtgtctccggttcagccccgatgggaag tggttggcgtcggccgcagatgaccacaccgtgaagctctgggatctcactgccggcaag atgatgtctgagttccctggtcacacggggcctgtcaacgtggtcgagtttcaccccaac gagtacctcctggcctccggcagctctgacaggacaatccgcttctgggacctggagaag ttccaggtggtgagctgcatcgaaggggagcctgggcccgtcaggagcgtcctcttcaac ccagacggctgctgcctgtacagcggctgccaggactcactgcgtgtctacggctgggaa cctgagcggtgctttgatgtggtcctcgtcaactggggcaaggtggccgacctggccatc tgcaatgaccagttgataggtgtggccttctcccagagcaacgtctcctcctacgtggtg gatctgacgcgtgtcaccaggactggcacggtggcccgggaccctgtgcaggaccaccgg cccctggcacagccactgcccaaccccagcgcccccctccggcgcatctatgagcggccc agcacaacctgcagcaagcctcagagggtgaagcagaactcagagagcgagcgccgcagc cccagcagcgaggatgaccgggacgagcgcgagtcccgcgcggagatccagaacgccgag gactacaacgagatcttccagcccaagaacagcatcagtcggacgccaccccggagaagt gagcccttccctgcacccccagaggacgacgcagccacagcaaaggaggcagcaaagccc agccctgccatggatgtgcagttcccggtgccaaatctggaggtcctgccccggccccca gtggttgcttccacacctgcacccaaggctgagcctgccatcatccctgccacccggaac gagcccatcgggctgaaggcctccgacttcctgcccgccgtgaagatcccccagcaggcc gagctggtggacgaggatgccatgtcacagatccgcaaaggccacgacaccatgtgtgtg gtgctcaccagccgccacaagaacctggacactgtgcgggctgtgtggaccatgggcgac atcaagacgtcggtggactccgctgtggccatcaacgacctgtcggtggtggtggacctc ctgaacatcgtcaaccagaaagcctccctgtggaagctggacctgtgcaccaccgtcctg ccacagattgagaagcttctgcagagcaagtatgagagctacgtccagacgggctgcacc tccctgaagctgatcctgcagcggtttctgcccctcatcacagacatgctggcggcccca ccctctgtgggtgtggatatcagcagggaggagaggctgcataagtgccggctctgctac aagcagcttaagagcatcagcggcctggtcaagagcaagtcaggcctgagcggccgccat ggcagtaccttccgcgagctgcacctgctcatggccagtctggactga

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