KEGG T01001: 166379

Homo sapiens (human): 166379

Entry

166379 CDS T01001

Gene name

BBS12, C4orf24

Definition

Bardet-Biedl syndrome 12

Organism

hsa Homo sapiens (human)

Disease

H00418

Bardet-Biedl syndrome (BBS)

Class

SSDB

Motif

Pfam:

Cpn60_TCP1

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

4q27

AA seq 710 aa
MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESL
DLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGL
NFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVA
SQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRT
DNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQ
QGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIE
GDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSE
RLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLD
VVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGG
AVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLS
TLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIP
RVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL

NT seq 2133 nt +upstreamnt +downstreamnt
atggtgatggcttgcagagtcgtaaacaaaagaagacacatgggacttcaacaactttca
tcattcgcggaaacaggaagaactttcctaggcccactaaaatcatccaaatttattata
gatgaagaatgtcatgaaagtgtattaatcagttcaacagtaaggcttcttgaaagtttg
gatttaaccagtgcagtgggacaacttctcaatgaagcagttcaagcacaaaacaacaca
tatagaactggaatcagtactcttttgtttcttgttggtgcttggagcagtgcagttgaa
gaatgtcttcatcttggtgtccccatttccataatagtatcagtaatgtcagaaggctta
aacttttgtagtgaagaggtagtttctcttcatgtacctgttcacaatatatttgactgt
atggacagcacaaaaacattttctcaacttgaaacatttagtgtaagtttgtgtcctttt
ctacaggtcccttcagatactgatttgatagaggaattgcatggtctcaaagatgttgcc
tctcaaacactgaccatttccaacctttctgggagacctcttaaatcatatgaattattt
aaacctcagacaaaggttgaagcagataacaacacatcacgaactctgaaaaacagcctg
cttgcagatacctgctgcagacagtcaatactaatccacagtaggcattttaataggaca
gataatactgaaggggtaagcaaaccagatggatttcaagaacatgttacagctactcac
aaaacttacagatgtaatgatttggtagagttggcagtaggcttgagtcatggagatcac
agcagcatgaagttagtagaagaagcagtacagctgcaatatcagaatgcttgtgtgcaa
caaggcaactgtacaaaaccatttatgtttgacatttcaagaattttcacttgctgtcta
ccaggcttacctgaaacttcttcttgtgtttgtccaggatatatcactgttgtgtcagta
tctaataatcctgtgatcaaggaattgcagaatcagcctgtgcgaatagttctcattgag
ggtgacctcacagagaattaccgccacctgggatttaataagtctgcaaatattaaaaca
gtattagatagcatgcggcttcaagaagacagctcagaagaactgtgggcaaatcacgtg
ttacaggtgttaatccagttcaaggtgaaccttgtcctggtacaaggaaatgtgtccgaa
cgcttaattgaaaaatgtataaacagtaagcggttggtaatcggctcagtgaatggcagt
gtgatgcaggcttttgcagaggctgcaggagcagtacaggtggcctacattacacaagtg
aatgaagattgtgtgggcgacggggtctgcgtgaccttctggagaagcagccctttggat
gttgtagataggaacaacagaatcgcaatcttattaaaaacagaaggaattaatttggtt
acggccgtgctcactaacccagttactgcacagatgcaaatcaaagaagataggttctgg
acatgtgcctatcgtttgtattatgctctaaaagaggaaaaggtcttccttggaggtggt
gcagttgaatttttgtgtcttagctgtcttcatattcttgcagagcaatctctgaaaaaa
gaaaaccatgcctgctcagggtggctgcataatacttcctcttggctggcttcatctctg
gcaatatacagaccaactgtgcttaaattcctggcaaatggatggcagaaatacctttca
actctcctatataacactgccaattactcatcagaatttgaagccagcacatacattcaa
catcatctgcaaaatgccacagactctggctctccttcatcttacatcttgaatgaatat
agtaaactaaatagtagaatttttaattcagacatttcaaataaactggagcagattccg
agagtttatgacgttgttacaccaaagattgaggcgtggcgccgagcattggatttagta
ttgttagtacttcagacagacagtgaaataattactggacatggacacacacagataaat
tcacaggaattaacgggctttctatttttgtag

All links

Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (14)   
   RefSeq(nuc) (2)   
   GenBank (6)   
   EMBL (6)   
Protein domain (1)   
   Pfam (1)   
All databases (35)   

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