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Q9HBG6

- IF122_HUMAN

UniProt

Q9HBG6 - IF122_HUMAN

Protein

Intraflagellar transport protein 122 homolog

Gene

IFT122

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (04 Nov 2008)
      Previous versions | rss
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    Functioni

    Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. camera-type eye morphogenesis Source: UniProtKB
    2. ciliary receptor clustering involved in smoothened signaling pathway Source: Ensembl
    3. cilium morphogenesis Source: UniProtKB
    4. embryonic body morphogenesis Source: UniProtKB
    5. embryonic digit morphogenesis Source: Ensembl
    6. embryonic heart tube development Source: UniProtKB
    7. intraciliary retrograde transport Source: UniProtKB
    8. limb development Source: UniProtKB
    9. negative regulation of smoothened signaling pathway Source: UniProtKB
    10. neural tube closure Source: UniProtKB
    11. protein localization to cilium Source: MGI
    12. smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    SignaLinkiQ9HBG6.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Intraflagellar transport protein 122 homolog
    Alternative name(s):
    WD repeat-containing protein 10
    WD repeat-containing protein 140
    Gene namesi
    Name:IFT122
    Synonyms:SPG, WDR10, WDR140
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:13556. IFT122.

    Subcellular locationi

    Cytoplasm. Cell projectioncilium By similarity. Cytoplasmcytoskeletoncilium basal body By similarity
    Note: Localizes to photoreceptor connecting cilia.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. cytoskeleton Source: UniProtKB-KW
    3. intraciliary transport particle A Source: UniProtKB
    4. membrane Source: UniProtKB
    5. photoreceptor connecting cilium Source: UniProtKB
    6. primary cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71W → C in CED1. 1 Publication
    VAR_063584
    Natural varianti322 – 3221S → F in CED1. 1 Publication
    VAR_063585
    Natural varianti502 – 5021V → G in CED1. 1 Publication
    VAR_063586

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Ectodermal dysplasia

    Organism-specific databases

    MIMi218330. phenotype.
    Orphaneti1515. Cranioectodermal dysplasia.
    PharmGKBiPA37798.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12411241Intraflagellar transport protein 122 homologPRO_0000051045Add
    BLAST

    Proteomic databases

    MaxQBiQ9HBG6.
    PaxDbiQ9HBG6.
    PRIDEiQ9HBG6.

    PTM databases

    PhosphoSiteiQ9HBG6.

    Expressioni

    Tissue specificityi

    Expressed in many tissues. Predominant expression in testis and pituitary.1 Publication

    Gene expression databases

    ArrayExpressiQ9HBG6.
    BgeeiQ9HBG6.
    CleanExiHS_IFT122.
    GenevestigatoriQ9HBG6.

    Organism-specific databases

    HPAiHPA041815.

    Interactioni

    Subunit structurei

    Component of the IFT complex A (IFT-A) complex.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ORFQ9Q2G43EBI-2805994,EBI-6248094From a different organism.

    Protein-protein interaction databases

    BioGridi120882. 3 interactions.
    IntActiQ9HBG6. 5 interactions.
    STRINGi9606.ENSP00000296266.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HBG6.
    SMRiQ9HBG6. Positions 15-171, 536-586.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati10 – 5041WD 1Add
    BLAST
    Repeati51 – 9141WD 2Add
    BLAST
    Repeati93 – 12937WD 3Add
    BLAST
    Repeati131 – 16939WD 4Add
    BLAST
    Repeati278 – 31740WD 5Add
    BLAST
    Repeati319 – 35941WD 6Add
    BLAST
    Repeati512 – 55140WD 7Add
    BLAST

    Sequence similaritiesi

    Contains 7 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000261131.
    HOVERGENiHBG069969.
    OMAiPMYQYLE.
    OrthoDBiEOG7P2XR8.
    PhylomeDBiQ9HBG6.
    TreeFamiTF105855.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    2.130.10.10. 3 hits.
    InterProiIPR011990. TPR-like_helical.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 2 hits.
    [Graphical view]
    SMARTiSM00320. WD40. 7 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 3 hits.
    PROSITEiPS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (10)i

    Sequence statusi: Complete.

    This entry describes 10 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HBG6-1) [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

    MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK     50
    GHKDTVYCVA YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS 100
    YNPITHQLAS CSSSDFGLWS PEQKSVSKHK SSSKIICCSW TNDGQYLALG 150
    MFNGIISIRN KNGEEKVKIE RPGGSLSPIW SICWNPSSRW ESFWMNRENE 200
    DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD SPRDDNLEER 250
    NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS 300
    DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL 350
    IFSTVHGLYK DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR 400
    LAIQLPEKIL IYELYSEDLS DMHYRVKEKI IKKFECNLLV VCANHIILCQ 450
    EKRLQCLSFS GVKEREWQME SLIRYIKVIG GPPGREGLLV GLKNGQILKI 500
    FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV YDIDTKELLF 550
    QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS 600
    KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA 650
    MEALEGLDFE TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF 700
    SYQGKFHEAA KLYKRSGHEN LALEMYTDLC MFEYAKDFLG SGDPKETKML 750
    ITKQADWARN IKEPKAAVEM YISAGEHVKA IEICGDHGWV DMLIDIARKL 800
    DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL HVETQRWDEA 850
    FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ 900
    LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE 950
    LYHGYHAIHR HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF 1000
    TLAKQSKALG AYRLARHAYD KLRGLYIPAR FQKSIELGTL TIRAKPFHDS 1050
    EELVPLCYRC STNNPLLNNL GNVCINCRQP FIFSASSYDV LHLVEFYLEE 1100
    GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET KDSIGDEDPF 1150
    TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP 1200
    DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P 1241
    Length:1,241
    Mass (Da):141,825
    Last modified:November 4, 2008 - v2
    Checksum:i6C3C543369A6BDF5
    GO
    Isoform 3 (identifier: Q9HBG6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R

    Show »
    Length:1,182
    Mass (Da):134,947
    Checksum:i656347FD84660F4E
    GO
    Isoform 4 (identifier: Q9HBG6-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         65-116: Missing.
         188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
         930-930: Q → QA

    Note: No experimental confirmation available.

    Show »
    Length:1,131
    Mass (Da):129,360
    Checksum:iC5B817F74CDF0FD5
    GO
    Isoform 5 (identifier: Q9HBG6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         91-91: T → TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGGRIDCLRPSVQNQPGQK

    Show »
    Length:1,292
    Mass (Da):147,386
    Checksum:i654E06B93117E686
    GO
    Isoform 6 (identifier: Q9HBG6-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         91-91: T → TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGGRIDCLRPSVQNQPGQK
         188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
         930-930: Q → QA

    Show »
    Length:1,234
    Mass (Da):140,579
    Checksum:i8FDD8B15B1D30075
    GO
    Isoform 7 (identifier: Q9HBG6-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-150: Missing.
         188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R

    Show »
    Length:1,032
    Mass (Da):118,477
    Checksum:iD49D756E5592DEA6
    GO
    Isoform 8 (identifier: Q9HBG6-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-150: Missing.

    Show »
    Length:1,091
    Mass (Da):125,355
    Checksum:iA5B82F38EDC3384B
    GO
    Isoform 9 (identifier: Q9HBG6-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         65-116: GKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDF → VLCIE
         188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
         665-682: Missing.
         930-930: Q → QA

    Show »
    Length:1,118
    Mass (Da):127,770
    Checksum:i2866C11A191CC390
    GO
    Isoform 10 (identifier: Q9HBG6-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         66-117: Missing.
         139-247: SWTNDGQYLA...EDDSPRDDNL → R
         930-930: Q → QA

    Show »
    Length:1,082
    Mass (Da):123,913
    Checksum:i491351AEABE80626
    GO
    Isoform 11 (identifier: Q9HBG6-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
         1053-1241: Missing.

    Show »
    Length:993
    Mass (Da):113,230
    Checksum:i95850537CB7AAF8D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti238 – 2381E → D in AAH28353. (PubMed:15489334)Curated
    Sequence conflicti273 – 2731I → T in AAG15427. (PubMed:11242542)Curated
    Sequence conflicti489 – 4891L → S in BAD96815. (PubMed:14702039)Curated
    Sequence conflicti687 – 6871R → Q in AAG15428. (PubMed:11242542)Curated
    Sequence conflicti773 – 7731S → P in BAG54015. (PubMed:17974005)Curated
    Sequence conflicti843 – 8431E → G in BAG54015. (PubMed:17974005)Curated
    Sequence conflicti907 – 9071A → V in AAG15428. (PubMed:11242542)Curated
    Sequence conflicti996 – 9961V → VR in AAG15427. (PubMed:11242542)Curated
    Sequence conflicti996 – 9961V → VR in BAG60729. (PubMed:14702039)Curated
    Sequence conflicti1182 – 11821L → F in BAA91888. (PubMed:14702039)Curated
    Sequence conflicti1182 – 11821L → F in BAG54015. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71W → C in CED1. 1 Publication
    VAR_063584
    Natural varianti322 – 3221S → F in CED1. 1 Publication
    VAR_063585
    Natural varianti502 – 5021V → G in CED1. 1 Publication
    VAR_063586

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 150150Missing in isoform 7 and isoform 8. 1 PublicationVSP_056773Add
    BLAST
    Alternative sequencei65 – 11652Missing in isoform 4. 1 PublicationVSP_043310Add
    BLAST
    Alternative sequencei65 – 11652GKRFA…SSSDF → VLCIE in isoform 9. 1 PublicationVSP_056774Add
    BLAST
    Alternative sequencei66 – 11752Missing in isoform 10. 1 PublicationVSP_056775Add
    BLAST
    Alternative sequencei91 – 911T → TSWSVMSSLHLHLPFLGLHK TVRVTATDKAPKGQGGRIDC LRPSVQNQPGQK in isoform 5 and isoform 6. 1 PublicationVSP_045224
    Alternative sequencei139 – 247109SWTND…RDDNL → R in isoform 10. 1 PublicationVSP_056776Add
    BLAST
    Alternative sequencei188 – 24760SRWES…RDDNL → R in isoform 3, isoform 4, isoform 6, isoform 7, isoform 9 and isoform 11. 2 PublicationsVSP_041161Add
    BLAST
    Alternative sequencei665 – 68218Missing in isoform 9. 1 PublicationVSP_056777Add
    BLAST
    Alternative sequencei930 – 9301Q → QA in isoform 4, isoform 6, isoform 9 and isoform 10. 2 PublicationsVSP_043311
    Alternative sequencei1053 – 1241189Missing in isoform 11. 1 PublicationVSP_056778Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF244930 mRNA. Translation: AAG15427.1.
    AF244931 mRNA. Translation: AAG15428.1.
    AF302154 mRNA. Translation: AAG13415.1.
    AK001759 mRNA. Translation: BAA91888.1.
    AK293852 mRNA. Translation: BAG57250.1.
    AK298526 mRNA. Translation: BAG60729.1.
    AK124140 mRNA. Translation: BAG54015.1.
    AK223095 mRNA. Translation: BAD96815.1.
    AC080007 Genomic DNA. No translation available.
    AL449212 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79246.1.
    CH471052 Genomic DNA. Translation: EAW79247.1.
    CH471052 Genomic DNA. Translation: EAW79249.1.
    CH471052 Genomic DNA. Translation: EAW79250.1.
    BC028353 mRNA. Translation: AAH28353.1.
    BC003045 mRNA. Translation: AAH03045.2.
    BC004238 mRNA. Translation: AAH04238.1.
    CCDSiCCDS3059.1. [Q9HBG6-3]
    CCDS3060.1. [Q9HBG6-5]
    CCDS3061.1. [Q9HBG6-1]
    CCDS3062.1. [Q9HBG6-4]
    PIRiT43484.
    RefSeqiNP_001267470.1. NM_001280541.1.
    NP_001267474.1. NM_001280545.1.
    NP_001267475.1. NM_001280546.1.
    NP_060732.2. NM_018262.3.
    NP_443711.2. NM_052985.3. [Q9HBG6-5]
    NP_443715.1. NM_052989.2. [Q9HBG6-1]
    NP_443716.1. NM_052990.2. [Q9HBG6-4]
    UniGeneiHs.655284.

    Genome annotation databases

    EnsembliENST00000296266; ENSP00000296266; ENSG00000163913. [Q9HBG6-5]
    ENST00000347300; ENSP00000323973; ENSG00000163913. [Q9HBG6-3]
    ENST00000348417; ENSP00000324005; ENSG00000163913. [Q9HBG6-1]
    ENST00000349441; ENSP00000324165; ENSG00000163913. [Q9HBG6-4]
    ENST00000431818; ENSP00000410946; ENSG00000163913.
    ENST00000440957; ENSP00000401569; ENSG00000163913.
    ENST00000504021; ENSP00000422179; ENSG00000163913.
    ENST00000507564; ENSP00000425536; ENSG00000163913.
    GeneIDi55764.
    KEGGihsa:55764.
    UCSCiuc003eml.3. human.
    uc003emm.3. human. [Q9HBG6-1]
    uc003emn.3. human. [Q9HBG6-3]
    uc003emo.3. human. [Q9HBG6-4]
    uc003emr.3. human.
    uc010htc.3. human.
    uc011bkx.1. human.
    uc011bky.2. human.

    Polymorphism databases

    DMDMi212276436.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF244930 mRNA. Translation: AAG15427.1 .
    AF244931 mRNA. Translation: AAG15428.1 .
    AF302154 mRNA. Translation: AAG13415.1 .
    AK001759 mRNA. Translation: BAA91888.1 .
    AK293852 mRNA. Translation: BAG57250.1 .
    AK298526 mRNA. Translation: BAG60729.1 .
    AK124140 mRNA. Translation: BAG54015.1 .
    AK223095 mRNA. Translation: BAD96815.1 .
    AC080007 Genomic DNA. No translation available.
    AL449212 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79246.1 .
    CH471052 Genomic DNA. Translation: EAW79247.1 .
    CH471052 Genomic DNA. Translation: EAW79249.1 .
    CH471052 Genomic DNA. Translation: EAW79250.1 .
    BC028353 mRNA. Translation: AAH28353.1 .
    BC003045 mRNA. Translation: AAH03045.2 .
    BC004238 mRNA. Translation: AAH04238.1 .
    CCDSi CCDS3059.1. [Q9HBG6-3 ]
    CCDS3060.1. [Q9HBG6-5 ]
    CCDS3061.1. [Q9HBG6-1 ]
    CCDS3062.1. [Q9HBG6-4 ]
    PIRi T43484.
    RefSeqi NP_001267470.1. NM_001280541.1.
    NP_001267474.1. NM_001280545.1.
    NP_001267475.1. NM_001280546.1.
    NP_060732.2. NM_018262.3.
    NP_443711.2. NM_052985.3. [Q9HBG6-5 ]
    NP_443715.1. NM_052989.2. [Q9HBG6-1 ]
    NP_443716.1. NM_052990.2. [Q9HBG6-4 ]
    UniGenei Hs.655284.

    3D structure databases

    ProteinModelPortali Q9HBG6.
    SMRi Q9HBG6. Positions 15-171, 536-586.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120882. 3 interactions.
    IntActi Q9HBG6. 5 interactions.
    STRINGi 9606.ENSP00000296266.

    PTM databases

    PhosphoSitei Q9HBG6.

    Polymorphism databases

    DMDMi 212276436.

    Proteomic databases

    MaxQBi Q9HBG6.
    PaxDbi Q9HBG6.
    PRIDEi Q9HBG6.

    Protocols and materials databases

    DNASUi 55764.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296266 ; ENSP00000296266 ; ENSG00000163913 . [Q9HBG6-5 ]
    ENST00000347300 ; ENSP00000323973 ; ENSG00000163913 . [Q9HBG6-3 ]
    ENST00000348417 ; ENSP00000324005 ; ENSG00000163913 . [Q9HBG6-1 ]
    ENST00000349441 ; ENSP00000324165 ; ENSG00000163913 . [Q9HBG6-4 ]
    ENST00000431818 ; ENSP00000410946 ; ENSG00000163913 .
    ENST00000440957 ; ENSP00000401569 ; ENSG00000163913 .
    ENST00000504021 ; ENSP00000422179 ; ENSG00000163913 .
    ENST00000507564 ; ENSP00000425536 ; ENSG00000163913 .
    GeneIDi 55764.
    KEGGi hsa:55764.
    UCSCi uc003eml.3. human.
    uc003emm.3. human. [Q9HBG6-1 ]
    uc003emn.3. human. [Q9HBG6-3 ]
    uc003emo.3. human. [Q9HBG6-4 ]
    uc003emr.3. human.
    uc010htc.3. human.
    uc011bkx.1. human.
    uc011bky.2. human.

    Organism-specific databases

    CTDi 55764.
    GeneCardsi GC03P129158.
    GeneReviewsi IFT122.
    H-InvDB HIX0003670.
    HIX0163443.
    HGNCi HGNC:13556. IFT122.
    HPAi HPA041815.
    MIMi 218330. phenotype.
    606045. gene.
    neXtProti NX_Q9HBG6.
    Orphaneti 1515. Cranioectodermal dysplasia.
    PharmGKBi PA37798.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000261131.
    HOVERGENi HBG069969.
    OMAi PMYQYLE.
    OrthoDBi EOG7P2XR8.
    PhylomeDBi Q9HBG6.
    TreeFami TF105855.

    Enzyme and pathway databases

    SignaLinki Q9HBG6.

    Miscellaneous databases

    GenomeRNAii 55764.
    NextBioi 60799.
    PROi Q9HBG6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HBG6.
    Bgeei Q9HBG6.
    CleanExi HS_IFT122.
    Genevestigatori Q9HBG6.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    2.130.10.10. 3 hits.
    InterProi IPR011990. TPR-like_helical.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 2 hits.
    [Graphical view ]
    SMARTi SM00320. WD40. 7 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 3 hits.
    PROSITEi PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis."
      Gross C., De Baere E., Lo A., Chang W., Messiaen L.
      DNA Cell Biol. 20:41-52(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), TISSUE SPECIFICITY.
    2. "The research of spermatogenesis related genes."
      Shan Y.X., Li J.M., Sha J.H.
      Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 9; 10 AND 11).
      Tissue: Cerebellum.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8).
      Tissue: Testis.
    5. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Lung and Testis.
    8. "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia."
      Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K.
      Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE IFT-A COMPLEX.
    9. Cited for: VARIANTS CED1 CYS-7; PHE-322 AND GLY-502.

    Entry informationi

    Entry nameiIF122_HUMAN
    AccessioniPrimary (citable) accession number: Q9HBG6
    Secondary accession number(s): B3KW53
    , B4DEY9, B4DPW7, E7EQF4, E9PDG2, E9PDX2, G3XAB1, H7C3C0, Q53G36, Q8TC06, Q9BTB9, Q9BTY4, Q9HAT9, Q9HBG5, Q9NV68, Q9UF80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 115 of the entry and version 2 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

    External Data

    Dasty 3