KEGG   Homo sapiens (human): 222662
Entry
222662            CDS       T01001                                 
Symbol
LHFPL5, DFNB67, TMHS, dJ510O8.8
Name
(RefSeq) LHFPL tetraspan subfamily member 5
  KO
K23893  LHFPL tetraspan subfamily member protein
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    222662 (LHFPL5)
   03037 Cilium and associated proteins [BR:hsa03037]
    222662 (LHFPL5)
Transporters [BR:hsa02000]
 Other transporters
  Pores ion channels [TC:1]
   222662 (LHFPL5)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   222662 (LHFPL5)
SSDB
Motif
Pfam: L_HMGIC_fpl PMP22_Claudin Claudin_2
Other DBs
NCBI-GeneID: 222662
NCBI-ProteinID: NP_872354
OMIM: 609427
HGNC: 21253
Ensembl: ENSG00000197753
UniProt: Q8TAF8
Position
6:35805352..35824070
AA seq 219 aa
MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAG
YFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFI
CNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFM
LAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV
NT seq 660 nt   +upstreamnt  +downstreamnt
atggtgaaattgctgccggcccaggaggcagccaagatctaccataccaactatgtgcgg
aactcgcgagccgtgggcgtgatgtggggtaccctcaccatctgcttctccgtactggtc
atggccctcttcatccagccctactggatcggcgacagcgtcaacacaccgcaggcaggc
tacttcggccttttctcctactgcgtgggtaacgtgctgtcctccgagctcatctgcaag
ggcggccccctagacttctcctccatcccctctagagccttcaagactgccatgttcttt
gtggccttgggcatgttcctcatcattggctccatcatctgcttcagcctgttcttcatc
tgcaacacggccacagtctataagatctgtgcatggatgcagctggctgcggccacaggc
ctaatgattggctgcctggtctaccctgatggttgggactcaagtgaggtgcggcgcatg
tgtggggagcagacgggcaagtacacgctgggccactgcaccatccgctgggccttcatg
ctggccatcctcagcattggcgacgccctcatcctctccttcctggccttcgtgttgggc
taccggcaggacaagctcctccctgacgactacaaggcagatggaaccgaggaggtgtga

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