KEGG T01001: 57465

Homo sapiens (human): 57465

Entry

57465             CDS       T01001

Symbol

TBC1D24, DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, TLDC6

Name

(RefSeq) TBC1 domain family member 24

K21841

TBC1 domain family member 24

Organism

hsa Homo sapiens (human)

Disease

H00604

Deafness, autosomal dominant

H00605

Deafness, autosomal recessive

H00606

Early infantile epileptic encephalopathy

H01815

Malignant migrating partial seizures in infancy

H02212

Familial infantile myoclonic epilepsy

H02218

DOORS syndrome

H02939

Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp

Brite

KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    57465 (TBC1D24)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    57465 (TBC1D24)
Membrane trafficking [BR:hsa04131]
Endocytosis
  Arf GTPases and associated proteins
   Arf associated proteins
    57465 (TBC1D24)
Cilium and associated proteins [BR:hsa03037]
Other cilia and associated proteins
  Stereociliary proteins
   57465 (TBC1D24)

SSDB

Motif

Pfam:

TLD RabGAP-TBC RabGap-TBC_2

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

LinkDB

Position

16:2475127..2505730

AA seq 559 aa
MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIR
DIPCRTVTPDASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLC
LANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSC
MTFGDLVNKYCQAAHKLMVAVSEDVLQVYADWQRWLFGELPLCYFARVFDVFLVEGYKVL
YRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTVSPEKLLEKAFAIRLFSRKEI
QLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREMRDIWSWVPER
FALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGG
KLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLS
PFLAARHFNLPSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCS
ENFLIAAVEAWGFQDPDTQ

NT seq 1680 nt +upstreamnt +downstreamnt
atggactctccaggatacaactgcttcgtggacaaagacaagatggacgctgccatccag
gacctggggcccaaggagctgagctgcactgaactgcaggaactgaagcagctggcgcgc
cagggctactgggcccaaagccacgccctgcggggaaaggtgtaccagcgcctgatccgg
gacattccctgccgcacggtcacgcctgacgccagcgtgtacagcgacatcgtgggcaag
atcgtgggcaagcacagcagcagctgcctgccgctgcccgagttcgtggacaacacgcag
gtgcccagctactgcctgaatgcacgcggcgagggggccgtgcgcaagatcctcctgtgc
ctggccaaccagttccccgacatctccttctgccccgccctgccggccgtggtggccctg
ctgctgcactacagcatcgacgaggccgagtgcttcgagaaggcctgccgcatcctggcc
tgcaatgaccccggcaggaggctgatcgaccagagcttcctggcctttgagtcgtcctgc
atgacgtttggggacctggtgaacaagtactgccaggcggcccacaagctgatggtggcc
gtgtcggaggatgtcctgcaggtctatgcggactggcagcgctggctgtttggggagctg
cccctctgctacttcgcccgggtctttgacgtcttcctggtggagggctacaaggtgctg
taccgcgtggcgctggccatcctcaagttcttccacaaggtgagggccgggcagccgctg
gagtcggacagcgtgaagcaggacatccgcacgttcgtcagagacatcgcgaagacggtg
tcccctgagaagctgctggagaaagcgttcgccatccgcctcttctcccgcaaggagatc
cagctcctgcagatggccaatgagaaagccctgaagcagaagggcatcaccgtgaagcag
aagagtgtgtcactttctaaaaggcagtttgtacacttggccgtccatgcagagaacttc
cgctcggagatcgtcagcgtgagggagatgagagacatctggtcctgggtccccgagcgc
tttgccctgtgccagccccttctgctgttctcctccctgcagcacgggtacagcctggcc
aggttctacttccagtgtgaaggacatgagcctaccctcttgctcatcaagaccacgcag
aaggaggtgtgtggtgcttacctgtccacagactggagtgagagaaataagtttggaggc
aaactgggcttctttgggaccggagaatgctttgtgtttaggctgcagcctgaggtgcag
cgctacgagtgggtggtgatcaagcaccccgagctgaccaagcccccacccttgatggct
gccgagcccaccgccccactcagccactccgcctcctcagaccccgctgaccgcctctcg
cccttcctggccgctcgccacttcaacctgccctccaagaccgagtccatgttcatggcg
gggggcagcgactgcctcatcgtcgggggaggaggcggccaggcgctctacatcgatggg
gacctgaaccggggccgcacaagccactgcgacaccttcaacaaccagcccctctgctcc
gagaacttcctcattgctgccgtggaggcctggggcttccaggaccctgacacccagtga

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