Entry HUMAN22845 (BBS12_HUMAN)

EHomo sapiens


General information

Description
Bardet-Biedl syndrome 12 [Source:HGNC Symbol;Acc:HGNC:26648]
Organism
HUMAN - Homo sapiens
Locus
Chromosome 4: 122741893..122744025

IDs and Cross-references

UniProtKB/Swiss-Prot
UniProtKB/Swiss-Prot BBS12_HUMAN (Acc.: Q6ZW61)
Ensembl
Ensembl ENSG00000181004.9, Ensembl ENSP00000319062.3, Ensembl ENST00000314218.7
Refseq
Refseq logo NP_689831(Acc.:Refseq logo NP_689831.2)
EntrezGene
Entrez logo 166379
HGNC
BBS12 Bardet-Biedl syndrome 12
NCBI
ncbi logo AAH55426, ncbi logo BAC04006, ncbi logo BAC85644, ncbi logo CAD98035, ncbi logo EAX05223, ncbi logo EAX05224

Domain Architecture

Gene Ontology

Molecular function
GO termEvidence and reference
protein binding (GO:0005515) IPI: PMID:20080638, PMID:22500027, PMID:26900326
ATP binding (GO:0005524) IEA: GO_REF:002
protein binding involved in protein folding (GO:0044183) IBA: GO_REF:033
unfolded protein binding (GO:0051082) IBA: GO_REF:033

Cellular component
GO termEvidence and reference
chaperonin-containing T-complex (GO:0005832) IBA: GO_REF:033
cilium (GO:0005929) IEA: GO_REF:037, GO_REF:039
cell projection (GO:0042995) IEA: GO_REF:037

Biological process
GO termEvidence and reference
'de novo' protein folding (GO:0006458) IBA: GO_REF:033
intraciliary transport (GO:0042073) IEA: GO_REF:107
eating behavior (GO:0042755) IEA: GO_REF:107
photoreceptor cell maintenance (GO:0045494) IEA: GO_REF:107
negative regulation of fat cell differentiation (GO:0045599) IMP: PMID:22958920
IEA: GO_REF:107
chaperone-mediated protein complex assembly (GO:0051131) IMP: PMID:20080638
chaperone-mediated protein folding (GO:0061077) IBA: GO_REF:033

Protein Sequence

MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI SSTVRLLESL    60
DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE ECLHLGVPIS IIVSVMSEGL   120
NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL ETFSVSLCPF LQVPSDTDLI EELHGLKDVA   180
SQTLTISNLS GRPLKSYELF KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT   240
DNTEGVSKPD GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ   300
QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ NQPVRIVLIE   360
GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV LQVLIQFKVN LVLVQGNVSE   420
RLIEKCINSK RLVIGSVNGS VMQAFAEAAG AVQVAYITQV NEDCVGDGVC VTFWRSSPLD   480
VVDRNNRIAI LLKTEGINLV TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG   540
AVEFLCLSCL HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS   600
TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS DISNKLEQIP   660
RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN SQELTGFLFL              710