IFT122
entrez
55764
canonical
uniprot
Q9HBG6
canonical
ensembl
ENSG00000163913
resolver
ensp
ENSP00000296266
resolver
ensp
ENSP00000323973
resolver
ensp
ENSP00000324005
resolver
ensp
ENSP00000324165
resolver
ensp
ENSP00000422179
resolver
ensp
ENSP00000425536
resolver
ensp
ENSP00000508642
resolver
ensp
ENSP00000508740
resolver
ensp
ENSP00000508811
resolver
ensp
ENSP00000508904
resolver
ensp
ENSP00000509186
resolver
ensp
ENSP00000509216
resolver
ensp
ENSP00000509225
resolver
ensp
ENSP00000509297
resolver
ensp
ENSP00000509806
resolver
ensp
ENSP00000509878
resolver
ensp
ENSP00000509982
resolver
ensp
ENSP00000510425
resolver
ensp
ENSP00000510741
resolver
ensp
ENSP00000693877
resolver
ensp
ENSP00000693888
resolver
ensp
ENSP00000693890
resolver
enst
ENST00000504021
resolver
enst
ENST00000687377
resolver
enst
ENST00000688020
resolver
enst
ENST00000689332
resolver
enst
ENST00000689801
resolver
enst
ENST00000690663
resolver
enst
ENST00000691583
resolver
enst
ENST00000692242
resolver
enst
ENST00000693129
resolver
enst
ENST00000693588
resolver
genesymbol
IFT122
resolver
genesymbol_syn
SPG
resolver
genesymbol_syn
WDR10
resolver
genesymbol_syn
WDR140
resolver
hgnc
HGNC:13556
resolver
uniprot
A0A8I5KSG5
resolver
uniprot
A0A8I5KT04
resolver
uniprot
A0A8I5KTL4
resolver
uniprot
A0A8I5KUU2
resolver
uniprot
A0A8I5KVC7
resolver
uniprot
A0A8I5KWK4
resolver
uniprot
A0A8I5KXT5
resolver
uniprot
A0A8I5QKR8
resolver
uniprot
A0A8I5QKX8
resolver
uniprot
A0A8J9A3C6
resolver
uniprot
B3KUD1
resolver
uniprot
B3KW53
resolver
uniprot
B4DEY9
resolver
uniprot
B4DPW7
resolver
uniprot
B4DST2
resolver
uniprot
E7EQF4
resolver
uniprot
E9PDG2
resolver
uniprot
E9PDX2
resolver
uniprot
G3XAB1
resolver
uniprot
H7C3C0
resolver
uniprot
Q53G36
resolver
uniprot
Q8TC06
resolver
uniprot
Q9BTB9
resolver
uniprot
Q9BTY4
resolver
uniprot
Q9HAT9
resolver
uniprot
Q9HBG5
resolver
uniprot
Q9NV68
resolver
uniprot
Q9UF80
resolver
uniprot_entry
A0A8I5KSG5_HUMAN
resolver
uniprot_entry
A0A8I5KT04_HUMAN
resolver
uniprot_entry
A0A8I5KTL4_HUMAN
resolver
uniprot_entry
A0A8I5KUU2_HUMAN
resolver
uniprot_entry
A0A8I5KVC7_HUMAN
resolver
uniprot_entry
A0A8I5KWK4_HUMAN
resolver
uniprot_entry
A0A8I5KXT5_HUMAN
resolver
uniprot_entry
A0A8I5QKR8_HUMAN
resolver
uniprot_entry
A0A8I5QKX8_HUMAN
resolver
uniprot_entry
A0A8J9A3C6_HUMAN
resolver
uniprot_entry
B3KUD1_HUMAN
resolver
uniprot_entry
B4DST2_HUMAN
resolver
uniprot_entry
IF122_HUMAN
resolver
uniprot_sec
B3KW53
resolver
uniprot_sec
B4DEY9
resolver
uniprot_sec
B4DPW7
resolver
uniprot_sec
E7EQF4
resolver
uniprot_sec
E9PDG2
resolver
uniprot_sec
E9PDX2
resolver
uniprot_sec
G3XAB1
resolver
uniprot_sec
H7C3C0
resolver
uniprot_sec
Q53G36
resolver
uniprot_sec
Q8TC06
resolver
uniprot_sec
Q9BTB9
resolver
uniprot_sec
Q9BTY4
resolver
uniprot_sec
Q9HAT9
resolver
uniprot_sec
Q9HBG5
resolver
uniprot_sec
Q9NV68
resolver
uniprot_sec
Q9UF80
resolver
amino_acid_sequence
MRAVLTWRDKAEHCINDIAFKPDGTQLILAAGSRLLVYDTSDGTLLQPLKGHKDTVYCVAYAKDGKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDFGLWSPEQKSVSKHKSSSKIICCSWTNDGQYLALGMFNGIISIRNKNGEEKVKIERPGGSLSPIWSICWNPSSRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNLEERNDILAVADWGQKVSFYQLSGKQIGKDRALNFDPCCISYFTKGEYILLGGSDKQVSLFTKDGVRLGTVGEQNSWVWTCQAKPDSNYVVVGCQDGTISFYQLIFSTVHGLYKDRYAYRDSMTDVIVQHLITEQKVRIKCKELVKKIAIYRNRLAIQLPEKILIYELYSEDLSDMHYRVKEKIIKKFECNLLVVCANHIILCQEKRLQCLSFSGVKEREWQMESLIRYIKVIGGPPGREGLLVGLKNGQILKIFVDNLFAIVLLKQATAVRCLDMSASRKKLAVVDENDTCLVYDIDTKELLFQEPNANSVAWNTQCEDMLCFSGGGYLNIKASTFPVHRQKLQGFVVGYNGSKIFCLHVFSISAVEVPQSAPMYQYLDRKLFKEAYQIACLGVTDTDWRELAMEALEGLDFETAKKAFIRVQDLRYLELISSIEERKKRGETNNDLFLADVFSYQGKFHEAAKLYKRSGHENLALEMYTDLCMFEYAKDFLGSGDPKETKMLITKQADWARNIKEPKAAVEMYISAGEHVKAIEICGDHGWVDMLIDIARKLDKAEREPLLLCATYLKKLDSPGYAAETYLKMGDLKSLVQLHVETQRWDEAFALGEKHPEFKDDIYMPYAQWLAENDRFEEAQKAFHKAGRQREAVQVLEQLTNNAVAESRFNDAAYYYWMLSMQCLDIAQDPAQKDTMLGKFYHFQRLAELYHGYHAIHRHTEDPFSVHRPETLFNISRFLLHSLPKDTPSGISKVKILFTLAKQSKALGAYRLARHAYDKLRGLYIPARFQKSIELGTLTIRAKPFHDSEELVPLCYRCSTNNPLLNNLGNVCINCRQPFIFSASSYDVLHLVEFYLEEGITDEEAISLIDLEVLRPKRDDRQLEIANNSSQILRLVETKDSIGDEDPFTAKLSFEQGGSEFVPVVVSRLVLRSMSRRDVLIKRWPPPLRWQYFRSLLPDASITMCPSCFQMFHSEDYELLVLQHGCCPYCRRCKDDPGP
uniprot
proteins
disease_involvement
DISEASE: Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. {ECO:0000269|PubMed:20493458, ECO:0000269|PubMed:23826986, ECO:0000269|PubMed:24689072, ECO:0000269|PubMed:26792575, ECO:0000269|PubMed:29220510}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a 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), it is required in ciliogenesis and ciliary protein trafficking (PubMed:20889716, PubMed:27932497, PubMed:29220510, PubMed:36775821). Involved in cilia formation during neuronal patterning (By similarity). {ECO:0000250|UniProtKB:Q6NWV3, ECO:0000269|PubMed:20889716, ECO:0000269|PubMed:27932497, ECO:0000269|PubMed:29220510, ECO:0000269|PubMed:36775821}.
uniprot
proteins
mass_dalton
141825
uniprot
proteins
pubmed
11242542
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20493458
uniprot
proteins
pubmed
20889716
uniprot
proteins
pubmed
23826986
uniprot
proteins
pubmed
24689072
uniprot
proteins
pubmed
26792575
uniprot
proteins
pubmed
27932497
uniprot
proteins
pubmed
29220510
uniprot
proteins
pubmed
30476139
uniprot
proteins
pubmed
36775821
uniprot
proteins
sequence_length
1241
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:29220510}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:29220510}. Note=Localizes to photoreceptor connecting cilia. {ECO:0000250|UniProtKB:Q6NWV3}.
uniprot
proteins