KEGG   Homo sapiens (human): 9130
Entry
9130              CDS       T01001                                 
Symbol
FAM50A, 9F, DXS9928E, HXC-26, HXC26, MRXSA, XAP5
Name
(RefSeq) family with sequence similarity 50 member A
  KO
K13119  protein FAM50
Organism
hsa  Homo sapiens (human)
Disease
H00658  X-linked syndromic intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    9130 (FAM50A)
Spliceosome [BR:hsa03041]
 Complex C
  Other components
   Complex C specific factors
    9130 (FAM50A)
SSDB
Motif
Pfam: XAP5
Other DBs
NCBI-GeneID: 9130
NCBI-ProteinID: NP_004690
OMIM: 300453
HGNC: 18786
Ensembl: ENSG00000071859
UniProt: Q14320
Structure
Position
X:154444141..154450654
AA seq 339 aa
MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSNIDKKFSAHYDAVEAEL
KSSTVGLVTLNDMKAKQEALVKEREKQLAKKEQSKELQMKLEKLREKERKKEAKRKISSL
SFTLEEEEEGGEEEEEAAMYEEEMEREEITTKKRKLGKNPDVDTSFLPDRDREEEENRLR
EELRQEWEAKQEKIKSEEIEITFSYWDGSGHRRTVKMRKGNTMQQFLQKALEILRKDFSE
LRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARGKSGPLFNFDVHDDVRLLSDATVEKDE
SHAGKVVLRSWYEKNKHIFPASRWEPYDPEKKWDKYTIR
NT seq 1020 nt   +upstreamnt  +downstreamnt
atggctcaatacaagggcgccgcgagcgaggccggccgcgccatgcacctgatgaagaag
cgggagaagcagcgcgagcagatggagcagatgaagcagcgcatcgcggaggagaacatc
atgaaatccaacattgacaagaagttctctgcgcactacgacgcggtggaggcagagctc
aagtccagcaccgtgggtctcgtgaccctgaatgacatgaaggccaagcaggaggctctg
gtgaaggagcgggagaagcagctggccaagaaggagcagtccaaggagctgcagatgaag
ctggagaagcttcgagagaaggagcgtaagaaggaagccaagcggaagatctccagcctg
tccttcaccctggaggaggaagaagagggaggcgaggaggaagaggaggcggccatgtat
gaggaggagatggaaagggaagagatcaccacgaagaagagaaaactggggaagaaccca
gacgttgacacaagcttcttgcctgatcgagaccgtgaggaggaggagaatcggcttcgg
gaagagctgcggcaggagtgggaagccaagcaggagaagatcaagagtgaggagatcgag
atcaccttcagctactgggatggctctgggcaccggcggacagtcaagatgagaaagggc
aacaccatgcagcagttcctgcagaaggcgctcgagatccttcggaaagacttcagtgag
ctgaggtccgcaggggtggagcagctcatgtacatcaaggaggacttgatcatccctcac
catcacagcttctacgacttcatcgtcaccaaggcacgggggaagagtggaccactcttc
aactttgatgttcatgacgatgtgcggttgctcagtgacgccactgtggagaaggatgag
tcccatgcaggcaaggtggtgctgaggagctggtacgagaagaacaagcacatctttccc
gccagccgctgggaaccctacgaccctgaaaagaagtgggacaagtacacgatccgctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (27)   
   RefSeq(nuc) (1)   
   GenBank (13)   
   EMBL (13)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (62)   

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