KEGG   Homo sapiens (human): 3208
Entry
3208              CDS       T01001                                 
Symbol
HPCA, BDR2, DYT2
Name
(RefSeq) hippocalcin
  KO
K23846  neuron-specific calcium-binding protein hippocalcin
Organism
hsa  Homo sapiens (human)
Disease
H00831  Primary dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    3208 (HPCA)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 EF-hand domain-containing proteins
  Calcium binding proteins
   3208 (HPCA)
SSDB
Motif
Pfam: EF-hand_7 EF-hand_1 EF-hand_6 EF-hand_5 EF-hand_8 SPARC_Ca_bdg EF-hand_4 WEF-hand
Other DBs
NCBI-GeneID: 3208
NCBI-ProteinID: NP_002134
OMIM: 142622
HGNC: 5144
Ensembl: ENSG00000121905
Pharos: P84074(Tbio)
UniProt: P84074
Structure
Position
1:32885996..32894646
AA seq 193 aa
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGD
ASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREE
MLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNNDGKLSLEEFIRGAKSDPSIV
RLLQCDPSSASQF
NT seq 582 nt   +upstreamnt  +downstreamnt
atgggcaagcagaacagcaagctgcggcccgagatgttgcaggacctgcgagagaacaca
gagttctcagagctggagctgcaggagtggtacaagggcttcctcaaggactgccccaca
ggaatcctcaatgtggatgagttcaagaagatctacgccaacttctttccctatggtgac
gcctccaagtttgccgagcacgtcttccgcacctttgacaccaacagcgatggcaccata
gactttcgggagttcatcattgcgctgagcgtgacctcgcgcggccgcctggagcagaag
ctcatgtgggccttcagcatgtatgacctggacggcaacggctacatcagccgggaggag
atgctggagatcgtgcaggccatttacaagatggtttcgtccgtgatgaagatgccggag
gacgagtcgaccccggaaaagaggactgagaaaatcttccgccaaatggacacaaacaac
gacggcaagctgtccttggaggagttcatccgcggggccaaaagcgacccgtccatcgtg
cgtctgctgcagtgcgaccccagcagcgcctcccagttctga

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