KEGG   Homo sapiens (human): 84668Help
Entry
84668             CDS       T01001                                 

Gene name
FAM126A, DRCTNNB1A, HCC, HLD5, HYCC1
Definition
(RefSeq) family with sequence similarity 126 member A
  KO
K21844  protein FAM126
Organism
hsa  Homo sapiens (human)
Disease
H00679  Hypomyelinating leukodystrophy
Brite
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Others
   EFR3-PI4KIII alpha complex and associated proteins
    84668 (FAM126A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Hyccin
Motif
Other DBs
NCBI-GeneID: 84668
NCBI-ProteinID: NP_115970
OMIM: 610531
HGNC: 24587
Ensembl: ENSG00000122591
Vega: OTTHUMG00000128435
Pharos: Q9BYI3(Tbio)
UniProt: Q9BYI3
Structure
PDB: 

Jmol
Position
7p15.3
AA seq 521 aa AA seqDB search
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQL
FEFYRSGEEQLLQFTLQFLPELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHT
KVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEV
LTFLLLCYNAALTYMPSVSLQSLCQICSRICVCGYPRQHVRKYKGISSRIPVSSGFMVQM
LTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVANAIKASLPHGPMKSNKEGTRC
IQVEITPTSSRISRNAVTSMSIRGHRWKRHGNTELTGQEELMEISEVDEGFYSRAASSTS
QSGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGESCKDHFARKQTQRAQSENLEL
LSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANR
FSACSLQEEKLIYVSERTELPMKHQSGQQRPPSISITLSTD
NT seq 1566 nt NT seq  +upstreamnt  +downstreamnt
atgtttacttcagagaaaggggttgtggaggaatggttgtcagagtttaagacattacca
gaaacatctttaccaaattatgccacaaatttgaaagacaagagttctttagtttcatct
ctctataaagttatccaggagccacaaagtgagttgctagaacctgtctgtcaccagctc
tttgaattctatcgcagtggagaggagcagttgcttcaatttacgctgcaatttctccca
gaactaatttggtgctaccttgcagtctcagccagcagaaatgtgcatagcagtggatgc
attgaagctcttcttctaggggtttacaatttggaaatagttgacaaacagggacatacc
aaagtattgagttttacgattccatctttatccaaaccatctgtataccatgaaccttcc
agcattgggtccatggctctgactgagagtgcactatcccagcatggtttgtcaaaagtg
gtatacagtggacctcatcctcaaagggagatgctgacagcacagaatcggtttgaagtg
ttgacattccttttgttgtgttacaatgctgccttaacttacatgcccagtgtttctctt
cagtcactgtgtcaaatttgttcaagaatctgtgtttgtggatatcctcgacaacatgta
agaaaatataaaggtataagtagcaggataccagtttcttcaggattcatggtgcaaatg
ttaacagggatttattttgccttttataatggagaatgggatctagctcaaaaagcactg
gatgatattatatacagagcccagctagaattatatccagagccattgctggttgctaat
gcaataaaggcttcattgcctcatggtcccatgaaatctaataaggaaggtacaaggtgt
attcaagttgaaatcacaccaacttcctctcgaatatcaagaaatgcagtaaccagcatg
tcaataaggggtcataggtggaaaagacatggaaatacagaattaacaggtcaagaagaa
ctgatggagatatctgaagttgacgagggattttattccagggctgcgtctagtaccagc
cagtcgggtttatcaaacagtagtcacaattgtagtaacaagccaagtataggaaagaac
cacagacggtcaggaggaagcaaaactggaggaaaagaaaaagaaactacaggggaatct
tgcaaagatcactttgctcgaaaacaaactcagagagcccaaagtgagaatcttgagctt
ctctctttgaagagacttactttaacaaccagccaatccctacctaagcctagtagccat
ggtttggctaagaccgcagcgactgtatttagtaaatcctttgaacaagtcagtggtgtc
acagtcccacataacccgtcatctgctgttggttgtggggctgggacagatgccaatagg
ttttccgcttgtagtctccaagaagaaaagcttatttacgtttcagaaagaactgaactt
ccaatgaagcatcaatcaggtcagcagagacctcctagtattagcattactctgtccaca
gattaa

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Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (31)   
   RefSeq(nuc) (5)   
   GenBank (13)   
   EMBL (13)   
Protein domain (1)   
   Pfam (1)   
All databases (64)   

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