Ift140
entrez
106633
canonical
uniprot
E9PY46
canonical
ensembl
ENSMUSG00000024169
resolver
ensp
ENSMUSP00000024983
resolver
ensp
ENSMUSP00000250823
resolver
ensp
ENSMUSP00000250825
resolver
ensp
ENSMUSP00000250830
resolver
ensp
ENSMUSP00000250834
resolver
ensp
ENSMUSP00000250835
resolver
enst
ENSMUST00000024983
resolver
genesymbol
Ift140
resolver
genesymbol_syn
WDTC2
resolver
genesymbol_syn
Wdtc2
resolver
uniprot
B2RSU5
resolver
uniprot
Q2XQY6
resolver
uniprot
Q3TQ94
resolver
uniprot_entry
IF140_MOUSE
resolver
uniprot_entry
Q3TQ94_MOUSE
resolver
uniprot_sec
B2RSU5
resolver
uniprot_sec
Q2XQY6
resolver
amino_acid_sequence
MALYFDHRIKAPDTPSSPSHITWHPTHPFLAVASISPSSGGNVDIYLEQGEPVPDTHIERSFQATSLCWHPTRLILAIGWETGEVIMFNKQDKEQHTVPLPHTTDIAILSWSTSGSCLVSGDKLGVLLLWRLDQRGRVQGTPLLKHEYGKALTHCIFRLPPPGEDLVQLAKAAVSGDEKALDMFNWRKSSFGSFLKTGSQEGLSFFVSLMDGTVHYVDEKGKTAQVASTDSSIQTLFYIERREALVVVTENLLLSLYVVTPEGEAEEVMKVKLSGKTGCRADITLIEGSLLVTAIGEPVLRFWDLERGENYILSLQEKFGFEKGESINCVCFCKAKGLLAAGTNKGRVAMWKKVPSFPNGRGAEGKDMWALQTPTELEGNITQIKWGSRKNLLAVSSTESVSILSEQAMSSHFHQQVAAVQISPSLVNVSFLSTGGTHSLHTDMHISGVFATKDAVAVWNGKQVAIFEPSGSTLRNAGTFLCETSVLAMHEESIYTVEPNRLQVRTWQGTVKQLLLFSETEGSPCFLDVCGTFLVAGTDLAHFKSFDLSRREAKVHCSCKNLAQLVPDVGSITSLRCNANGNKISILLSKVNNSPDSKIYIYDVEMDTVNVFNFTTGQIGQIQTLPFNEPPTNETRSFMDKSLAGYTPVNHFWDQSEPRLFVCEALQEAPGAQPQAVDKQPRVEEGTCHKEEVLILSFFASEEHGFLLHDSFPRPSTYQSLLGMEVPHYYFTKKPGEADKEDRVDSGYYHIPQMVAKRPLRDFVGLEDCDKSTRDAMLNFSFFVTIGDMDEAFKSIKLIKSEAVWENMARMCVKTQRLDVAKVCLGNMGHARGARALREAEQEPELEARVAMLAIQLGMLEEAEQLYKKCKRYDLLNKFYQASDQWQKAVEVAELHDRVHLRTTYYNYAKHLEASADCGQALSYYEKSDTHRFEVPRMLSEDLQSLELYINRMKDKTLWRWWAQYLESQAEMDTALRYYELAQDYFSLVRIHCFQGNIQKAAEIANETGDWAASYHLARQYESQDEVKQAVHFYTRAQAFNNAIRLCKENGLDDQLMNLALLSSPEDMIEAARYYEEKGEQMDRAVMLYHKAGHFSKALELAFTTQQFAALQLIAEDLDEKSDPALLARCSDFCIEHRQFEKAVELLLAAKKYHEALQLCLEQNMTITEDMAEKMTVSKDSKDMSEESRRELLEQIANCCMRQGNYHLATKKYTQAGNKLKAMRALLKSGDTEKIVFFAGVSRQKEIYIMAANYLQSLDWRKEPEIMKSIISFYTKGRALDLLAGFYDACAQVEIDEYQNYDKAHGALTEAYKCLSKAKTKNPLDQETKLAQLQSKMTLVKRFIQARRTYTEDPKESLRQCELLLEEPDLDSTIRVGDVYGFLVEHHVQMEEYQMAYKYLEEMRKRLPSANMSYYVDQRTVDTVHQGLGLLPPSRIMPERVRHNSMEDHKEVYEEVIEEVDNDP
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Ift140 are the cause of cauliflower (cauli) phenotype, a mouse model for human asphyxiating thoracic dystrophy (Jeune syndrome). Embryos die at 13.5 dpc and exhibit exencephaly, anophthalmia, severely disorganized ribs with extensive exostoses, vertebral and palatal defects, agenesis/hypoplasia of the craniofacial skeleton, and polydactyly of the hindlimbs. Cilia morphology in limb buds is severely disrupted with a broader and bulbous appearance. {ECO:0000269|PubMed:24009529}.
uniprot
proteins
function
FUNCTION: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (By similarity). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22282595). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (PubMed:24619649). {ECO:0000250|UniProtKB:Q96RY7, ECO:0000269|PubMed:22282595, ECO:0000269|PubMed:24619649}.
uniprot
proteins
mass_dalton
165875
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
22282595
uniprot
proteins
pubmed
24009529
uniprot
proteins
pubmed
24619649
uniprot
proteins
sequence_length
1464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22282595, ECO:0000269|PubMed:24009529, ECO:0000269|PubMed:24619649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q96RY7}. Cell projection, cilium {ECO:0000269|PubMed:22282595, ECO:0000269|PubMed:24009529, ECO:0000269|PubMed:24619649}.
uniprot
proteins