HuLPr50261

Uniprot ID

IFT43_HUMAN

Uniprot Acc

Q96FT9;B3KPT6;B4DZI9;O95418;Q9ULA9;

Protein name

Intraflagellar transport protein 43 homolog

Comment

FUNCTION: Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.||SUBUNIT: Component of IFT complex A (Probable). Interacts with WDR35/IFT121.||ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96FT9-1; Sequence=Displayed; Name=2; IsoId=Q96FT9-2; Sequence=VSP 021169; Note=No experimental confirmation available. Variant in position: 94:D->N (in dbSNP:rs17783366); Name=3; IsoId=Q96FT9-3; Sequence=VSP 041319; Note=No experimental confirmation available;||DISEASE: Defects in IFT43 are a cause of cranioectodermal dysplasia type 1 (CED1) [MIM:218330]. CED1 is 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 t

Gene name

chromosome 14 open reading frame 179

Protein sequence

MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGK NSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASE EIEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQV AAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLL TKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQT EKEDPAGQARHT

Database cross reference

RefSeq Protein accession:NP_001096034
RefSeq Protein gi:156523264

GO-P

GO:0060271; P:cilium morphogenesis; IMP:UniProtKB. GO:0035721; P:intraflagellar retrograde transport; IMP:UniProtKB.

MOD type1

Position1

Residue1

Source name1

source ID1

Source method

HLPP validation1 (Yes/no)

Quality score

HuLPr50261

PHOSPHORYLATION

78

S

PhosphoSitePlus

12219164

LTP

N