(Translated by https://www.hiragana.jp/)
KEGG T01001: 79628
KEGG   Homo sapiens (human): 79628
Entry
79628             CDS       T01001                                 
Symbol
SH3TC2, CMT4C, MNMN
Name
(RefSeq) SH3 domain and tetratricopeptide repeats 2
  KO
K24313  SH3 domain and tetratricopeptide repeat-containing protein
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    79628 (SH3TC2)
Membrane trafficking [BR:hsa04131]
 Protein recycling
  Rab GTPases and associated proteins
   Rab11 associated proteins
    79628 (SH3TC2)
SSDB
Motif
Pfam: TPR_12 SH3_2 TPR_1 SH3_1 SH3_9 SNAP TPR_8 TPR_MalT TPR_2
Other DBs
NCBI-GeneID: 79628
NCBI-ProteinID: NP_078853
OMIM: 608206
HGNC: 29427
Ensembl: ENSG00000169247
UniProt: Q8TF17 A0A514TP98
LinkDB
Position
5:complement(148982150..149063062)
AA seq 1288 aa
MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKS
RSRRCVNGPLQEAARRRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIW
KFSTYLNLGYVSMCLEHLLFDHKYWLNCILVEDTEIQVSVDDKHLETIYLGLLIQEGHFF
CRALCSVTPPAEKEGECLTLCKNELISVKMAEAGSELEGVSLVTGQRGLVLVSALEPLPL
PFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGF
VIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTEC
SSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSS
SSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENFAPILAFLDHEGYA
DHFKSLYDFSFSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTWAHARLCFLLGRLSIR
KVKLSQARVYFEEAIHILNGAFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLA
CLPDRESSAKHELDVVAYVLRQGIVVGSSPLEARACFLAIRLLLSLGRHEEVLPFAERLQ
LLSGHPPASEAVASVLSFLYDKKYLPHLAVASVQQHGIQSAQGMSLPIWQVHLVLQNTTK
LLGFPSPGWGEVSALACPMLRQALAACEELADRSTQRALCLILSKVYLEHRSPDGAIHYL
SQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCSLKETESLTQRGVIYN
LLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLL
QAVRLYCELQASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQL
QATKSLCHFYSSVSPNPEACITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSL
RRSLTCIKESLRIFIDLGETDKAAEAWLGAGRLHYLMQEDELVELCLQAAIQTALKSEEP
LLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTELRIFNKLTELQISLE
GYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYLKTLSLCPPWL
QSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNI
CQSPLWHSRPSGCSSERARWLSGGGLAL
NT seq 3867 nt   +upstreamnt  +downstreamnt
atgggtggctgcttctgcatccccagggagcggagtctgacccggggcccaggtaaagaa
actccttccaaggatccaactgtatcgagtgagtgtatagcctcatctgaatacaaggaa
aaatgttttctgccacagaacattaatccagacctgacactctccttctgtgtaaagagc
cgctccaggaggtgtgtaaatggacccctacaggaagctgctcggaggcggctctgggca
ctggagaatgaggaccaggaggtgcgcatgctgtttaaggacctctcagcaaggttggtc
agtatccagtctcagagggcccagtttctcatcaccttcaagaccatggaggaaatctgg
aagttctccacctaccttaatttaggctacgtatccatgtgtctagaacatctcctcttt
gaccacaagtactggctcaactgcatattggtggaggatacagagatccaagtgtctgta
gatgataaacacctggaaacaatatacctgggactcctgatacaggaaggccacttcttc
tgcagagccctgtgctccgtgactccaccagccgagaaggaaggggaatgcttgacactt
tgcaagaatgagttaatctcagtgaagatggcagaagctggctccgagttggaaggcgtg
tctttggtgacaggtcagcggggcctggtactggtgtcagccttggagcctctgcctctc
cctttccaccagtggttcctaaagaattatccaggaagctgtggcctttccaggaagagg
gattggacaggctcctatcagattggcagaggacgctgtaaggccttgacgggttatgag
ccaggagaaaaggatgaactgaatttctaccagggagaaagcattgagatcatcggcttt
gtcatacctgggcttcagtggttcattggaaagtcgacaagttcaggacaagtgggcttt
gtccccaccaggaacatagatcctgattcttattccccaatgagcaggaactctgccttt
ctcagtgatgaggagagatgctccctgttggccctgggaagtgataagcagactgagtgt
tccagcttcctccacactcttgctcgcactgacatcacatctgtctaccggctcagtggg
tttgaatccatccagaatcctccaaatgatctgagtgcatcccagcctgaaggtttcaag
gaggtcaggcctggcagagcctgggaggagcatcaggccgtggggtccagacagtccagc
agctctgaggactccagcctggaggaggagctcctctcggccacctcagacagctatcgc
ctgccggagcctgatgaccttgatgacccggaactgctcatggacctaagcactggtcag
gaggaggaggctgagaacttcgcccccatattggcttttctggatcatgagggttatgct
gaccactttaagagtctctatgacttctccttctctttcctcacttcttccttttatagc
ttctctgaggaggatgagtttgtggcctacctggaggcatcaagaaagtgggccaagaag
agccacatgacctgggcccatgcccgtctctgcttcctcctgggccggctgagcatcagg
aaggtcaaactctctcaggccagggtgtacttcgaggaggccatccacattctcaatgga
gcatttgaggacctatccttggtggccactctgtacatcaatttggctgccatctacctg
aaacagaggctgagacataaaggctccgccctgttggaaaaggcaggtgccctgctggcc
tgcctgcctgaccgtgagtctagtgccaagcatgaactcgacgtggtggcctacgtgctg
cgccaggggattgtggtgggcagcagcccgctggaggccagggcctgctttctggccatc
cgcttgctcctgagcctaggccggcacgaggaggtcctgccctttgccgagcgcctgcag
ctcctctctggacaccctcctgcctctgaggctgtggccagtgttttgagttttctgtat
gacaagaaatatcttccacaccttgcagtggcctctgtccagcaacatggtatccagagt
gcccaagggatgtctcttcctatttggcaggtccaccttgtcctccagaacacaaccaag
ctccttggctttccttccccaggctggggtgaagtttctgccttggcctgcccaatgctc
agacaggccctggctgcctgtgaggaactagcagaccggagcacccagagggccctgtgt
ctcatcctttccaaagtgtacctcgagcacaggtctcctgacggtgccatccactacctg
agccaggccttggtgctagggcagctgctgggtgagcaggaatcctttgagtcttctctc
tgcctggcatgggcctatctcttagccagccaggccaagaaggctttggatgtgcttgag
ccactgctatgctccctgaaggagacagagagtctcactcaaaggggagtcatctataac
ctcctgggacttgcactccaaggtgaaggccgggtgaacagggcagccaagagctatctt
cgggccttgaacagagcccaggaggtgggagatgtgcataaccaggcagtggctatggcc
aatcttggccacctgagccttaagtcctgggctcagcatccagccagaaactatctcctg
caggctgtacgactctattgtgaacttcaggccagtaaggagacagacatggaattagta
caggtgtttctctggttggcccaagttctggtgtctggacaccagctgacccatggcctt
ctttgttatgaaatggcattgctgtttggcttaaggcatcgacatctaaagagtcagctt
caggccaccaaatccctctgccatttctacagctctgtgtccccaaaccctgaggcatgc
atcacctaccatgagcactggctggccctggctcagcaactcagggaccgggagatggaa
gggaggctgctggagtccctggggcagctttatcggaacctaaataccgccaggtccctc
aggaggtcactcacatgcatcaaggagagcctgcgtatcttcattgacctgggggagaca
gacaaggctgctgaggcctggcttggggcggggcgactccactacctcatgcaggaagac
gagctggtggagctgtgcctgcaggcagccatccagacagccctgaagtcagaggagcct
ttgctggctctcaaactttatgaagaagcaggtgatgtgttcttcaatgggacccgccac
aggcatcatgcagtggagtactaccgagctggagctgttcctttagcaaggaggttgaag
gcggtgagaactgagctccggattttcaataagctgacagagctgcagattagcctcgaa
ggctatgagaaggctttggaatttgccaccctggccgccaggctcagcacagtcacagga
gatcagaggcaagagctggtggcctttcaccgcctggctacagtgtactactccctgcac
atgtatgagatggctgaggactgctacctgaagaccctgtccctctgtccaccatggctg
cagagtcccaaggaggccctgtactatgccaaggtgtattatcgcctgggcagactcacc
ttctgccagctgaaggatgcccatgatgccactgagtacttccttctggccctggcagca
gcggtcctgctgggtgatgaggagcttcaggacaccattaggagcaggctggacaacatc
tgccagagccccctgtggcacagcaggccctccgggtgctcctcagagagggcgcggtgg
ctgagtggtggtggcctggccctctga

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