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Protein

Intraflagellar transport protein 80 homolog

Gene

IFT80

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.1 Publication

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport
SignaLinkiQ9P2H3

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 80 homolog
Alternative name(s):
WD repeat-containing protein 56
Gene namesi
Name:IFT80
Synonyms:KIAA1374, WDR56
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000068885.14
HGNCiHGNC:29262 IFT80
MIMi611177 gene
neXtProtiNX_Q9P2H3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:611263
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035006105H → Q in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853115EnsemblClinVar.1
Natural variantiVAR_035007549Missing in SRTD2. 1 Publication1
Natural variantiVAR_035009701A → P in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853116EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi57560
MalaCardsiIFT80
MIMi611263 phenotype
OpenTargetsiENSG00000068885
Orphaneti474 Jeune syndrome
93271 Short rib-polydactyly syndrome, Verma-Naumoff type
PharmGKBiPA142671664

Polymorphism and mutation databases

BioMutaiIFT80
DMDMi294862504

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000510421 – 777Intraflagellar transport protein 80 homologAdd BLAST777

Proteomic databases

EPDiQ9P2H3
MaxQBiQ9P2H3
PaxDbiQ9P2H3
PeptideAtlasiQ9P2H3
PRIDEiQ9P2H3
ProteomicsDBi83816

PTM databases

iPTMnetiQ9P2H3
PhosphoSitePlusiQ9P2H3

Expressioni

Tissue specificityi

Isoform IFT80-L is widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000068885 Expressed in 208 organ(s), highest expression level in oviduct epithelium
CleanExiHS_IFT80
ExpressionAtlasiQ9P2H3 baseline and differential
GenevisibleiQ9P2H3 HS

Organism-specific databases

HPAiHPA017750
HPA035868

Interactioni

Subunit structurei

Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity).By similarity

Protein-protein interaction databases

BioGridi121615, 24 interactors
CORUMiQ9P2H3
IntActiQ9P2H3, 18 interactors
STRINGi9606.ENSP00000312778

Structurei

3D structure databases

ProteinModelPortaliQ9P2H3
SMRiQ9P2H3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati12 – 50WD 1Add BLAST39
Repeati104 – 143WD 2Add BLAST40
Repeati145 – 185WD 3Add BLAST41
Repeati186 – 225WD 4Add BLAST40
Repeati227 – 265WD 5Add BLAST39
Repeati267 – 306WD 6Add BLAST40
Repeati504 – 542WD 7Add BLAST39

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1524 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00440000033499
HOGENOMiHOG000256816
HOVERGENiHBG056828
InParanoidiQ9P2H3
KOiK19678
OMAiCRTVEDE
OrthoDBiEOG091G03FC
PhylomeDBiQ9P2H3
TreeFamiTF106117

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2H3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRLKISLLKE PKHQELVSCV GWTTAEELYS CSDDHQIVKW NLLTSETTQI
60 70 80 90 100
VKLPDDIYPI DFHWFPKSLG VKKQTQAESF VLTSSDGKFH LISKLGRVEK
110 120 130 140 150
SVEAHCGAVL AGRWNYEGTA LVTVGEDGQI KIWSKTGMLR STLAQQGTPV
160 170 180 190 200
YSVAWGPDSE KVLYTAGKQL IIKPLQPNAK VLQWKAHDGI ILKVDWNSVN
210 220 230 240 250
DLILSAGEDC KYKVWDSYGR PLYNSQPHEH PITSVAWAPD GELFAVGSFH
260 270 280 290 300
TLRLCDKTGW SYALEKPNTG SIFNIAWSID GTQIAGACGN GHVVFAHVVE
310 320 330 340 350
QHWEWKNFQV TLTKRRAMQV RNVLNDAVDL LEFRDRVIKA SLNYAHLVVS
360 370 380 390 400
TSLQCYVFST KNWNTPIIFD LKEGTVSLIL QAERHFLLVD GSSIYLYSYE
410 420 430 440 450
GRFISSPKFP GMRTDILNAQ TVSLSNDTIA IRDKADEKII FLFEASTGKP
460 470 480 490 500
LGDGKFLSHK NEILEIALDQ KGLTNDRKIA FIDKNRDLCI TSVKRFGKEE
510 520 530 540 550
QIIKLGTMVH TLAWNDTCNI LCGLQDTRFI VWYYPNTVYV DRDILPKTLY
560 570 580 590 600
ERDASEFSKN PHIVSFVGNQ VTIRRADGSL VHISITPYPA ILHEYVSSSK
610 620 630 640 650
WEDAVRLCRF VKEQTMWACL AAMAVANRDM TTAEIAYAAI GEIDKVQYIN
660 670 680 690 700
SIKNLPSKES KMAHILLFSG NIQEAEIVLL QAGLVYQAIQ ININLYNWER
710 720 730 740 750
ALELAVKYKT HVDTVLAYRQ KFLETFGKQE TNKRYLHYAE GLQIDWEKIK
760 770
AKIEMEITKE REQSSSSQSS KSIGLKP
Length:777
Mass (Da):88,035
Last modified:April 20, 2010 - v3
Checksum:i24C1BA59A5E5AE4D
GO
Isoform 2 (identifier: Q9P2H3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-137: Missing.

Note: No experimental confirmation available.
Show »
Length:640
Mass (Da):72,649
Checksum:iDEF396717A4AAFD0
GO
Isoform IFT80-L (identifier: Q9P2H3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MRLKISLLKEPKHQE → MHNFEEELTC...PKRMSCSWPG

Note: Based on a naturally occurring readthrough transcript which produces a TRIM59-IFT80 fusion protein.
Show »
Length:1,080
Mass (Da):123,321
Checksum:i9172D9879003167A
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JSB1C9JSB1_HUMAN
Intraflagellar transport protein 80...
IFT80
179Annotation score:
C9IZR2C9IZR2_HUMAN
Intraflagellar transport protein 80...
IFT80
122Annotation score:
H7C5M3H7C5M3_HUMAN
Intraflagellar transport protein 80...
IFT80
55Annotation score:
C9J627C9J627_HUMAN
Intraflagellar transport protein 80...
IFT80
121Annotation score:
H7C5P3H7C5P3_HUMAN
Intraflagellar transport protein 80...
IFT80
69Annotation score:
F8WCB0F8WCB0_HUMAN
Intraflagellar transport protein 80...
IFT80
95Annotation score:
C9JUJ1C9JUJ1_HUMAN
Intraflagellar transport protein 80...
IFT80
77Annotation score:
C9JUI1C9JUI1_HUMAN
Intraflagellar transport protein 80...
IFT80
64Annotation score:
H7C4K6H7C4K6_HUMAN
Intraflagellar transport protein 80...
IFT80
122Annotation score:
C9J6I5C9J6I5_HUMAN
Intraflagellar transport protein 80...
IFT80
42Annotation score:
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14Q → I in BAA92612 (PubMed:10718198).Curated1
Sequence conflicti242E → D in AAH42027 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035006105H → Q in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853115EnsemblClinVar.1
Natural variantiVAR_035007549Missing in SRTD2. 1 Publication1
Natural variantiVAR_035008586T → S1 PublicationCorresponds to variant dbSNP:rs6778728EnsemblClinVar.1
Natural variantiVAR_035009701A → P in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853116EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0454561 – 137Missing in isoform 2. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_0575241 – 15MRLKI…PKHQE → MHNFEEELTCPICYSIFEDP RVLPCSHTFCRNCLENILQA SGNFYIWRPLRIPLKCPNCR SITEIAPTGIESLPVNFALR AIIEKYQQEDHPDIVTCPEH YRQPLNVYCLLDKKLVCGHC LTIGQHHGHPIDDLQSAYLK EKDTPQKLLEQLTDTHWTDL THLIEKLKEQKSHSEKMIQG DKEAVLQYFKELNDTLEQKK KSFLTALCDVGNLINQEYTP QIERMKEIREQQLELMALTI SLQEESPLKFLEKVDDVRQH VQILKQRPLPEVQPVEIYPR VSKILKEEWSRTEIGQIKNV LIPKMKISPKRMSCSWPG in isoform IFT80-L. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303410 mRNA Translation: BAG64463.1
AC024221 Genomic DNA No translation available.
AC079594 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78643.1
CH471052 Genomic DNA Translation: EAW78644.1
CH471052 Genomic DNA Translation: EAW78645.1
CH471052 Genomic DNA Translation: EAW78646.1
CH471052 Genomic DNA Translation: EAW78648.1
BC030774 mRNA No translation available.
BC042027 mRNA Translation: AAH42027.1
BC101494 mRNA Translation: AAI01495.1
BC113669 mRNA Translation: AAI13670.1
AB037795 mRNA Translation: BAA92612.1
AL133045 mRNA Translation: CAB61372.1
CCDSiCCDS3188.1 [Q9P2H3-1]
CCDS54668.1 [Q9P2H3-2]
RefSeqiNP_001177170.1, NM_001190241.1 [Q9P2H3-2]
NP_001177171.1, NM_001190242.1 [Q9P2H3-2]
NP_065851.1, NM_020800.2 [Q9P2H3-1]
UniGeneiHs.478095

Genome annotation databases

EnsembliENST00000326448; ENSP00000312778; ENSG00000068885 [Q9P2H3-1]
ENST00000483465; ENSP00000418196; ENSG00000068885 [Q9P2H3-2]
ENST00000496589; ENSP00000420646; ENSG00000068885 [Q9P2H3-2]
GeneIDi57560
KEGGihsa:57560
UCSCiuc003fdb.3 human [Q9P2H3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303410 mRNA Translation: BAG64463.1
AC024221 Genomic DNA No translation available.
AC079594 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78643.1
CH471052 Genomic DNA Translation: EAW78644.1
CH471052 Genomic DNA Translation: EAW78645.1
CH471052 Genomic DNA Translation: EAW78646.1
CH471052 Genomic DNA Translation: EAW78648.1
BC030774 mRNA No translation available.
BC042027 mRNA Translation: AAH42027.1
BC101494 mRNA Translation: AAI01495.1
BC113669 mRNA Translation: AAI13670.1
AB037795 mRNA Translation: BAA92612.1
AL133045 mRNA Translation: CAB61372.1
CCDSiCCDS3188.1 [Q9P2H3-1]
CCDS54668.1 [Q9P2H3-2]
RefSeqiNP_001177170.1, NM_001190241.1 [Q9P2H3-2]
NP_001177171.1, NM_001190242.1 [Q9P2H3-2]
NP_065851.1, NM_020800.2 [Q9P2H3-1]
UniGeneiHs.478095

3D structure databases

ProteinModelPortaliQ9P2H3
SMRiQ9P2H3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121615, 24 interactors
CORUMiQ9P2H3
IntActiQ9P2H3, 18 interactors
STRINGi9606.ENSP00000312778

PTM databases

iPTMnetiQ9P2H3
PhosphoSitePlusiQ9P2H3

Polymorphism and mutation databases

BioMutaiIFT80
DMDMi294862504

Proteomic databases

EPDiQ9P2H3
MaxQBiQ9P2H3
PaxDbiQ9P2H3
PeptideAtlasiQ9P2H3
PRIDEiQ9P2H3
ProteomicsDBi83816

Protocols and materials databases

DNASUi57560
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326448; ENSP00000312778; ENSG00000068885 [Q9P2H3-1]
ENST00000483465; ENSP00000418196; ENSG00000068885 [Q9P2H3-2]
ENST00000496589; ENSP00000420646; ENSG00000068885 [Q9P2H3-2]
GeneIDi57560
KEGGihsa:57560
UCSCiuc003fdb.3 human [Q9P2H3-1]

Organism-specific databases

CTDi57560
DisGeNETi57560
EuPathDBiHostDB:ENSG00000068885.14
GeneCardsiIFT80
HGNCiHGNC:29262 IFT80
HPAiHPA017750
HPA035868
MalaCardsiIFT80
MIMi611177 gene
611263 phenotype
neXtProtiNX_Q9P2H3
OpenTargetsiENSG00000068885
Orphaneti474 Jeune syndrome
93271 Short rib-polydactyly syndrome, Verma-Naumoff type
PharmGKBiPA142671664
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1524 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00440000033499
HOGENOMiHOG000256816
HOVERGENiHBG056828
InParanoidiQ9P2H3
KOiK19678
OMAiCRTVEDE
OrthoDBiEOG091G03FC
PhylomeDBiQ9P2H3
TreeFamiTF106117

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport
SignaLinkiQ9P2H3

Miscellaneous databases

ChiTaRSiIFT80 human
GeneWikiiIFT80
GenomeRNAii57560
PROiPR:Q9P2H3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068885 Expressed in 208 organ(s), highest expression level in oviduct epithelium
CleanExiHS_IFT80
ExpressionAtlasiQ9P2H3 baseline and differential
GenevisibleiQ9P2H3 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIFT80_HUMAN
AccessioniPrimary (citable) accession number: Q9P2H3
Secondary accession number(s): B4E0K1
, C9J8I0, Q3MJC4, Q86YF4, Q9UIX1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: April 20, 2010
Last modified: November 7, 2018
This is version 155 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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