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Protein

Intraflagellar transport protein 80 homolog

Gene

IFT80

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

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

HGNCiHGNC:29262. IFT80.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051H → Q in SRTD2. 1 Publication
Corresponds to variant rs137853115 [ dbSNP | Ensembl ].
VAR_035006
Natural varianti549 – 5491Missing in SRTD2. 1 Publication
VAR_035007
Natural varianti701 – 7011A → P in SRTD2. 1 Publication
Corresponds to variant rs137853116 [ dbSNP | Ensembl ].
VAR_035009

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MalaCardsiIFT80.
MIMi611263. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 777777Intraflagellar transport protein 80 homologPRO_0000051042Add
BLAST

Proteomic databases

EPDiQ9P2H3.
MaxQBiQ9P2H3.
PaxDbiQ9P2H3.
PeptideAtlasiQ9P2H3.
PRIDEiQ9P2H3.

PTM databases

iPTMnetiQ9P2H3.
PhosphoSiteiQ9P2H3.

Expressioni

Tissue specificityi

Isoform IFT80-L is widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000068885.
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. 10 interactions.
IntActiQ9P2H3. 2 interactions.
STRINGi9606.ENSP00000312778.

Structurei

3D structure databases

ProteinModelPortaliQ9P2H3.
SMRiQ9P2H3. Positions 25-293, 613-645.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati12 – 5039WD 1Add
BLAST
Repeati104 – 14340WD 2Add
BLAST
Repeati145 – 18541WD 3Add
BLAST
Repeati186 – 22540WD 4Add
BLAST
Repeati227 – 26539WD 5Add
BLAST
Repeati267 – 30640WD 6Add
BLAST
Repeati504 – 54239WD 7Add
BLAST

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141Q → I in BAA92612 (PubMed:10718198).Curated
Sequence conflicti242 – 2421E → D in AAH42027 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051H → Q in SRTD2. 1 Publication
Corresponds to variant rs137853115 [ dbSNP | Ensembl ].
VAR_035006
Natural varianti549 – 5491Missing in SRTD2. 1 Publication
VAR_035007
Natural varianti586 – 5861T → S.1 Publication
Corresponds to variant rs6778728 [ dbSNP | Ensembl ].
VAR_035008
Natural varianti701 – 7011A → P in SRTD2. 1 Publication
Corresponds to variant rs137853116 [ dbSNP | Ensembl ].
VAR_035009

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 137137Missing in isoform 2. 1 PublicationVSP_045456Add
BLAST
Alternative sequencei1 – 1515MRLKI…PKHQE → MHNFEEELTCPICYSIFEDP RVLPCSHTFCRNCLENILQA SGNFYIWRPLRIPLKCPNCR SITEIAPTGIESLPVNFALR AIIEKYQQEDHPDIVTCPEH YRQPLNVYCLLDKKLVCGHC LTIGQHHGHPIDDLQSAYLK EKDTPQKLLEQLTDTHWTDL THLIEKLKEQKSHSEKMIQG DKEAVLQYFKELNDTLEQKK KSFLTALCDVGNLINQEYTP QIERMKEIREQQLELMALTI SLQEESPLKFLEKVDDVRQH VQILKQRPLPEVQPVEIYPR VSKILKEEWSRTEIGQIKNV LIPKMKISPKRMSCSWPG in isoform IFT80-L. 1 PublicationVSP_057524Add
BLAST

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

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. Positions 25-293, 613-645.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121615. 10 interactions.
IntActiQ9P2H3. 2 interactions.
STRINGi9606.ENSP00000312778.

PTM databases

iPTMnetiQ9P2H3.
PhosphoSiteiQ9P2H3.

Polymorphism and mutation databases

BioMutaiIFT80.
DMDMi294862504.

Proteomic databases

EPDiQ9P2H3.
MaxQBiQ9P2H3.
PaxDbiQ9P2H3.
PeptideAtlasiQ9P2H3.
PRIDEiQ9P2H3.

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.
GeneCardsiIFT80.
HGNCiHGNC:29262. IFT80.
HPAiHPA017750.
HPA035868.
MalaCardsiIFT80.
MIMi611177. gene.
611263. phenotype.
neXtProtiNX_Q9P2H3.
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.
OMAiWRAHDGL.
OrthoDBiEOG091G03FC.
PhylomeDBiQ9P2H3.
TreeFamiTF106117.

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.
SignaLinkiQ9P2H3.

Miscellaneous databases

ChiTaRSiIFT80. human.
GeneWikiiIFT80.
GenomeRNAii57560.
PROiQ9P2H3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068885.
CleanExiHS_IFT80.
ExpressionAtlasiQ9P2H3. baseline and differential.
GenevisibleiQ9P2H3. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIFT80_HUMAN
AccessioniPrimary (citable) accession number: Q9P2H3
Secondary accession number(s): B4E0K1
, C9J8I0, Q3MJC4, Q86YF4, Q9UIX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: April 20, 2010
Last modified: September 7, 2016
This is version 134 of the entry and version 3 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.