KEGG   Homo sapiens (human): 54862
Entry
54862             CDS       T01001                                 
Symbol
CC2D1A, Aki-1, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, TAPE
Name
(RefSeq) coiled-coil and C2 domain containing 1A
  KO
K18260  coiled-coil and C2 domain-containing protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00768  Autosomal recessive intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    54862 (CC2D1A)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   54862 (CC2D1A)
SSDB
Motif
Pfam: C2
Other DBs
NCBI-GeneID: 54862
NCBI-ProteinID: NP_060191
OMIM: 610055
HGNC: 30237
Ensembl: ENSG00000132024
Pharos: Q6P1N0(Tbio)
UniProt: Q6P1N0
Position
19:13906201..13930879
AA seq 951 aa
MHKRKGPPGPPGRGAAAARQLGLLVDLSPDGLMIPEDGANDEELEAEFLALVGGQPPALE
KLKGKGPLPMEAIEKMASLCMRDPDEDEEEGTDEDDLEADDDLLAELNEVLGEEQKASET
PPPVAQPKPEAPHPGLETTLQERLALYQTAIESARQAGDSAKMRRYDRGLKTLENLLASI
RKGNAIDEADIPPPVAIGKGPASTPTYSPAPTQPAPRIASAPEPRVTLEGPSATAPASSP
GLAKPQMPPGPCSPGPLAQLQSRQRDYKLAALHAKQQGDTTAAARHFRVAKSFDAVLEAL
SRGEPVDLSCLPPPPDQLPPDPPSPPSQPPTPATAPSTTEVPPPPRTLLEALEQRMERYQ
VAAAQAKSKGDQRKARMHERIVKQYQDAIRAHKAGRAVDVAELPVPPGFPPIQGLEATKP
TQQSLVGVLETAMKLANQDEGPEDEEDEVPKKQNSPVAPTAQPKAPPSRTPQSGSAPTAK
APPKATSTRAQQQLAFLEGRKKQLLQAALRAKQKNDVEGAKMHLRQAKGLEPMLEASRNG
LPVDITKVPPAPVNKDDFALVQRPGPGLSQEAARRYGELTKLIRQQHEMCLNHSNQFTQL
GNITETTKFEKLAEDCKRSMDILKQAFVRGLPTPTARFEQRTFSVIKIFPDLSSNDMLLF
IVKGINLPTPPGLSPGDLDVFVRFDFPYPNVEEAQKDKTSVIKNTDSPEFKEQFKLCINR
SHRGFRRAIQTKGIKFEVVHKGGLFKTDRVLGTAQLKLDALEIACEVREILEVLDGRRPT
GGRLEVMVRIREPLTAQQLETTTERWLVIDPVPAAVPTQVAGPKGKAPPVPAPARESGNR
SARPLHSLSVLAFDQERLERKILALRQARRPVPPEVAQQYQDIMQRSQWQRAQLEQGGVG
IRREYAAQLERQLQFYTEAARRLGNDGSRDAAKEALYRRNLVESELQRLRR
NT seq 2856 nt   +upstreamnt  +downstreamnt
atgcacaagaggaaaggacccccgggacccccgggcagaggcgccgcggccgcccgccag
ctgggcctgctggttgacctctccccagatggcctgatgatccctgaggacggggctaac
gatgaagaactggaggctgagttcttggctttggtcgggggccagcccccagccctggag
aagctcaaaggcaaaggtcccttgccgatggaggccattgagaagatggccagcctgtgc
atgagagacccggatgaggatgaggaggaggggacggatgaggacgacttggaggctgat
gatgacctgctggcggagctaaatgaggtccttggagaggagcagaaggcttcagagacc
ccacctcctgtggcccagccgaagcctgaggcccctcatccggggctggagaccaccttg
caggagaggctggcgctctatcagacagcaattgaaagcgccagacaagctggagacagc
gccaagatgcggcgctacgatcgggggcttaaaacactggaaaacctgctcgcctccatc
cgtaagggcaatgccattgacgaagcggacatcccgccgccagtggccataggaaaaggc
ccggcgtccacgcctacctacagccctgcacccacccagccggcccctagaatcgcgtca
gccccagagcccagggtcaccctggagggaccttctgccaccgccccagcctcatctcca
ggcttggctaagccccagatgcccccaggtccctgcagccctggccctctggcccagttg
cagagccgccagcgcgactacaagctggctgccctccacgccaagcagcagggagatacc
actgctgccgctagacacttccgcgtggctaagagctttgatgctgtcttggaggccctg
agccggggtgagcccgtggacctctcctgcctgccccctccacccgaccagctgccccca
gacccaccgtcaccaccgtcgcagcctccgacccccgctacggcgccctccacaacagag
gtgcccccacccccgaggaccctgctggaggcgctggagcagcggatggagcggtaccag
gtggccgcagcccaggccaagagcaagggggaccagcggaaagctcgaatgcacgagcgc
atcgtcaagcaataccaagatgccatccgagcccacaaggctggccgagccgtggatgtc
gctgaattgcccgtgcccccaggcttccccccaatccagggcctggaggccaccaagccc
acccagcagagtctggtgggtgtcctggagactgccatgaagctggccaaccaggatgaa
ggcccagaggatgaagaggatgaggtgcctaagaagcagaacagccctgtggcccccaca
gcccagcccaaagccccaccctcaagaactccccagtcgggatcagccccaacagccaaa
gcgccccccaaagccacatccaccagagcccagcagcagctggccttcctagagggccgc
aagaagcagctcctgcaggccgcactgcgagccaagcagaaaaacgacgtggagggtgcc
aagatgcacctgcgccaagccaagggactggagcctatgctggaggcctcgcgcaatggg
ctgcctgtggacatcaccaaggtgccgcctgcccctgtcaacaaggacgactttgccctg
gtccagcggcctggcccgggtctgtctcaggaggccgcccggcgctatggtgaactcacc
aagctcatacggcagcagcacgagatgtgcctgaaccactcaaaccaattcacccagctg
ggcaacatcactgaaaccaccaagtttgaaaagttggcggaggactgtaagcggagcatg
gacattctgaagcaagccttcgtccggggtctccccacgcccaccgcccgctttgagcaa
aggaccttcagcgtcatcaagatcttccctgacctcagcagcaacgacatgctcctcttc
atcgtgaagggcatcaacttgcccacacccccaggactgtcccctggcgatctggatgtc
tttgttcggtttgacttcccctatcccaacgtggaagaagctcagaaagacaagaccagt
gtgatcaagaacacagactcccctgagttcaaggagcagttcaaactctgcatcaaccgc
agccaccgtggcttccgaagggccatccagaccaagggcatcaagttcgaagtggttcac
aagggggggctgttcaagactgaccgggtgctggggacagcccagctgaagctggatgca
ctggagatagcatgtgaggtccgggagatccttgaggtcctggatggtcgccggcccaca
ggggggcgactggaggtaatggtccggattcgggagccactgacagcccagcagttggag
acgacgacagagaggtggctggtcattgaccctgtgccggcagctgtgcccacacaggtt
gctgggcccaaagggaaggcccctcctgtgcctgcccctgcaagggagtcagggaacaga
tcagcccggcccctgcatagcctcagtgtgctggcgtttgaccaagagcgtctggagcgg
aagatcctggccctcaggcaggcgcggcggccggtgcccccagaagtggcccagcagtac
caggacatcatgcaacgcagccagtggcagagggcacagctggagcaggggggtgtgggc
atccgacgggaatacgcagcccagctggagcggcagctgcagttctacacggaggctgcc
cggcgcctgggcaacgatggcagcagggatgctgcaaaggaggcgctctataggcggaat
ctggtagagagtgagctgcagcggctccgcaggtga

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