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 SH3_1 TPR_8 TPR_1 SNAP SH3_9 TPR_2 TPR_MalT Pilin_GH
Other DBs
NCBI-GeneID: 79628
NCBI-ProteinID: NP_078853
OMIM: 608206
HGNC: 29427
Ensembl: ENSG00000169247
UniProt: Q8TF17 A0A514TP98
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (39)   
   RefSeq(nuc) (1)   
   GenBank (19)   
   EMBL (19)   
Protein domain (10)   
   Pfam (10)   
All databases (76)   

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