KEGG T01001: 114327

Homo sapiens (human): 114327

Entry

114327 CDS T01001

Gene name

EFHC1, dJ304B14.2

Definition

EF-hand domain (C-terminal) containing 1

Organism

hsa Homo sapiens (human)

Disease

H00808

Idiopathic generalized epilepsies (IGEs)

Class

SSDB

Motif

Pfam:

DUF1126 EF-hand_1 EF-hand_6 EF-hand_7

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

UniProt:

Position

6p12.3

AA seq 621 aa
MLKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQ
APPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVE
NSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGI
ELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGEC
RTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQE
VLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQ
ELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFV
FSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVF
GHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQEL
EALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELI
RMCSHGEGKINYYNFVRAFSN

NT seq 1866 nt +upstreamnt +downstreamnt
atgttgaaaacagccttccacagaagtcagacgctgagctacaggaacggctatgcaatt
gttcgacgtccaacagttgggataggcggagaccggctccagttcaaccagctgtcccag
gctgagctggatgagttggccagtaaggcaccagtcttaacttatggccaacctaaacaa
gccccacctgcggattttattcctgcgcatgtggcctttgacaaaaaggtactgaaattt
gatgcctatttccaagaagatgttcctatgtcaactgaggaacagtataggatccgtcag
gtgaacatttactattatctagaagatgacagcatgtctgtcatagagcctgttgtagaa
aattctggaatccttcaaggcaagttaataaaacgccagcggctagccaagaatgaccgg
ggtgaccattaccattggaaagacctaaatcgaggaataaacatcacaatttatggcaaa
actttccgcgttgttgactgtgaccaattcacacaggtatttttagaaagccaaggaatt
gagttaaatccaccagagaagatggctcttgatccttacactgaactccgaaaacagcct
cttcgtaagtatgtcaccccatcagactttgatcaactcaagcaatttctcacctttgac
aaacaggtccttcgattctatgcaatctgggatgatacagacagcatgtatggtgaatgt
cggacctacatcattcattactatcttatggatgatacggtggaaattcgagaggtccac
gaacggaatgatgggagagatcctttcccactcctaatgaaccgccagcgtgtgcccaaa
gttttggtggaaaatgcaaagaacttccctcagtgtgtgctagaaatctctgaccaagaa
gtgttggaatggtatactgctaaagacttcattgttgggaagtcactcactatccttggg
agaactttcttcatttatgattgtgatccatttactcgacggtattacaaagagaagttt
ggaatcactgatttaccacgtattgatgtgagcaagcgggaaccacctccagtaaaacag
gagttgcctccttataacggttttggactagtggaagattctgctcagaattgttttgct
ctcattccaaaagctccaaaaaaagacgttattaaaatgctggtgaatgataacaaggtg
cttcgttatttggctgtactggaatcccccatcccagaagacaaagaccgcagatttgtc
ttctcttactttctagctaccgacatgatcagtatctttgagcctcctgttcgcaattct
ggtatcattgggggcaagtaccttggcaggactaaagttgttaaaccatactctacagtg
gacaaccctgtctactatggccccagtgacttcttcattggtgctgtgattgaagtgttt
ggtcaccggttcatcatccttgatacagacgagtatgttttgaaatacatggagagcaac
gctgcccagtattcaccagaagcactcgcgtcaattcagaaccatgtccgaaagcgagaa
gcgcctgctccagaagcagaaagcaagcaaactgaaaaggatccaggcgtgcaggaattg
gaagcattaatagacacaattcagaagcaactgaaagatcactcatgcaaagacaacatt
cgtgaggcatttcaaatttatgacaaggaagcttcaggatatgtggacagagacatgttc
tttaaaatctgtgaatcgcttaacgtcccagtggatgactccttggttaaggagttaatc
aggatgtgctctcatggagaaggcaaaattaactactataactttgttcgtgctttctca
aactga

All links

Ontology (1)   
   KEGG BRITE (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   NCBI-Gene (1)   
   NCBI-GI (10)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   RefSeq(pep) (2)   
DNA sequence (35)   
   RefSeq(nuc) (3)   
   GenBank (16)   
   EMBL (16)   
Protein domain (4)   
   Pfam (4)   
All databases (65)   

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