IFTAP_HUMAN
ID IFTAP_HUMAN Reviewed; 221 AA.
AC Q86VG3; D3DR18; Q96DD6;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Intraflagellar transport-associated protein;
DE AltName: Full=Protein HEPIS;
GN Name=IFTAP {ECO:0000312|HGNC:HGNC:25142};
GN Synonyms=C11orf74, NWC {ECO:0000250|UniProtKB:Q9CQI4};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Li Q., Ma S., Liu L., Wang L., Zhao H., Dong C., Liao Y.;
RT "The interaction of the SARS coronavirus non-structural protein 10 with the
RT human embryo lung cellular protein HEPIS.";
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Cervix, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-59, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [5]
RP FUNCTION, AND INTERACTION WITH IFT122.
RX PubMed=30476139; DOI=10.1093/jb/mvy100;
RA Takahara M., Kunii M., Nakamura K., Harada A., Hirano T., Katoh Y.,
RA Nakayama K.;
RT "C11ORF74 interacts with the IFT-A complex and participates in ciliary
RT BBSome localization.";
RL J. Biochem. 165:257-267(2019).
CC -!- FUNCTION: Seems to play a role in ciliary BBSome localization, maybe
CC through interaction with IFT-A complex. {ECO:0000269|PubMed:30476139}.
CC -!- SUBUNIT: Interacts with IFT122; the interaction associates IFTAP with
CC IFT-A complex. {ECO:0000269|PubMed:30476139}.
CC -!- INTERACTION:
CC Q86VG3; P20290: BTF3; NbExp=4; IntAct=EBI-3923037, EBI-1054687;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86VG3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86VG3-2; Sequence=VSP_025793;
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DR EMBL; DQ121386; AAZ29248.1; -; mRNA.
DR EMBL; CH471064; EAW68112.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW68113.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW68114.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW68115.1; -; Genomic_DNA.
DR EMBL; BC009561; AAH09561.1; -; mRNA.
DR EMBL; BC051031; AAH51031.1; -; mRNA.
DR CCDS; CCDS60762.1; -. [Q86VG3-2]
DR CCDS; CCDS7904.1; -. [Q86VG3-1]
DR RefSeq; NP_001263651.1; NM_001276722.1. [Q86VG3-1]
DR RefSeq; NP_001263652.1; NM_001276723.1. [Q86VG3-1]
DR RefSeq; NP_001263653.1; NM_001276724.1. [Q86VG3-1]
DR RefSeq; NP_001263654.1; NM_001276725.1. [Q86VG3-2]
DR RefSeq; NP_001263655.1; NM_001276726.1. [Q86VG3-2]
DR RefSeq; NP_001263656.1; NM_001276727.1. [Q86VG3-2]
DR RefSeq; NP_620142.2; NM_138787.3. [Q86VG3-1]
DR RefSeq; XP_006718201.1; XM_006718138.3. [Q86VG3-1]
DR RefSeq; XP_011518187.1; XM_011519885.2. [Q86VG3-1]
DR AlphaFoldDB; Q86VG3; -.
DR BioGRID; 125655; 16.
DR IntAct; Q86VG3; 29.
DR MINT; Q86VG3; -.
DR STRING; 9606.ENSP00000403937; -.
DR iPTMnet; Q86VG3; -.
DR PhosphoSitePlus; Q86VG3; -.
DR BioMuta; C11orf74; -.
DR DMDM; 74727571; -.
DR EPD; Q86VG3; -.
DR MassIVE; Q86VG3; -.
DR MaxQB; Q86VG3; -.
DR PaxDb; Q86VG3; -.
DR PeptideAtlas; Q86VG3; -.
DR PRIDE; Q86VG3; -.
DR ProteomicsDB; 70009; -. [Q86VG3-1]
DR ProteomicsDB; 70010; -. [Q86VG3-2]
DR Antibodypedia; 26025; 123 antibodies from 20 providers.
DR DNASU; 119710; -.
DR Ensembl; ENST00000334307.10; ENSP00000334848.5; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000347206.8; ENSP00000299442.6; ENSG00000166352.18. [Q86VG3-2]
DR Ensembl; ENST00000446510.6; ENSP00000403937.3; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000527108.6; ENSP00000435676.2; ENSG00000166352.18. [Q86VG3-2]
DR Ensembl; ENST00000530697.6; ENSP00000432685.2; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000531554.6; ENSP00000433407.2; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000532470.3; ENSP00000431374.2; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000534635.5; ENSP00000433152.1; ENSG00000166352.18. [Q86VG3-2]
DR Ensembl; ENST00000617650.5; ENSP00000483671.1; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000676979.1; ENSP00000503448.1; ENSG00000166352.18. [Q86VG3-1]
DR Ensembl; ENST00000678060.1; ENSP00000504720.1; ENSG00000166352.18. [Q86VG3-1]
DR GeneID; 119710; -.
DR KEGG; hsa:119710; -.
DR MANE-Select; ENST00000334307.10; ENSP00000334848.5; NM_138787.4; NP_620142.2.
DR UCSC; uc001mwy.3; human. [Q86VG3-1]
DR CTD; 119710; -.
DR DisGeNET; 119710; -.
DR GeneCards; IFTAP; -.
DR HGNC; HGNC:25142; IFTAP.
DR HPA; ENSG00000166352; Low tissue specificity.
DR MIM; 619270; gene.
DR neXtProt; NX_Q86VG3; -.
DR OpenTargets; ENSG00000166352; -.
DR VEuPathDB; HostDB:ENSG00000166352; -.
DR eggNOG; ENOG502S1X7; Eukaryota.
DR GeneTree; ENSGT00390000013149; -.
DR HOGENOM; CLU_1815126_0_0_1; -.
DR InParanoid; Q86VG3; -.
DR OMA; FTHKNEP; -.
DR PhylomeDB; Q86VG3; -.
DR TreeFam; TF335968; -.
DR PathwayCommons; Q86VG3; -.
DR SignaLink; Q86VG3; -.
DR SIGNOR; Q86VG3; -.
DR BioGRID-ORCS; 119710; 20 hits in 1012 CRISPR screens.
DR GenomeRNAi; 119710; -.
DR Pharos; Q86VG3; Tbio.
DR PRO; PR:Q86VG3; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q86VG3; protein.
DR Bgee; ENSG00000166352; Expressed in left ventricle myocardium and 176 other tissues.
DR ExpressionAtlas; Q86VG3; baseline and differential.
DR Genevisible; Q86VG3; HS.
DR GO; GO:0097731; C:9+0 non-motile cilium; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0120160; F:intraciliary transport particle A binding; IDA:UniProtKB.
DR GO; GO:0007340; P:acrosome reaction; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IBA:GO_Central.
DR InterPro; IPR040028; IFTAP.
DR PANTHER; PTHR35543; PTHR35543; 1.
DR Pfam; PF17722; IFTAP; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..221
FT /note="Intraflagellar transport-associated protein"
FT /id="PRO_0000288854"
FT MOD_RES 59
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 46..119
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_025793"
SQ SEQUENCE 221 AA; 25407 MW; 7C75C1C2061207D4 CRC64;
MSAHMSGLEI MDEDQLIKDV LDKFLNCHEQ TYDEEFLNTF THLSQEDHVS KRGVFGTDSS
ENIFTSAKVT HKNEADDYHL RNKTIFLRTS SQCLEEQVDN FLDLEDLDMD EEIKPQMSED
LLLLPGEVEQ DVSTSIPSCI PFVAQPPTCE VKPKPSVKRM DKQTEEILGD EVQLFSLDEE
FDYDNVMLTS KFSPAEIENI KELCKQQKRK DTSPDLEKSC D
