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Q9HBG6

- IF122_HUMAN

UniProt

Q9HBG6 - IF122_HUMAN

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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

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 - 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 forelimb morphogenesis Source: Ensembl
  7. embryonic heart tube development Source: UniProtKB
  8. embryonic heart tube left/right pattern formation Source: Ensembl
  9. establishment of protein localization to organelle Source: Ensembl
  10. intraciliary anterograde transport Source: Ensembl
  11. intraciliary retrograde transport Source: UniProtKB
  12. limb development Source: UniProtKB
  13. negative regulation of epithelial cell proliferation Source: Ensembl
  14. negative regulation of smoothened signaling pathway Source: UniProtKB
  15. negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning Source: Ensembl
  16. neural tube closure Source: UniProtKB
  17. protein localization to cilium Source: MGI
  18. signal transduction downstream of smoothened Source: Ensembl
  19. smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiREACT_267634. Hedgehog 'off' state.
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. ciliary basal body Source: Ensembl
  2. cytoplasm 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
Complete GO annotation...

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

BgeeiQ9HBG6.
CleanExiHS_IFT122.
ExpressionAtlasiQ9HBG6. baseline and differential.
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. 11 interactions.
IntActiQ9HBG6. 4 interactions.
STRINGi9606.ENSP00000296266.

Structurei

3D structure databases

ProteinModelPortaliQ9HBG6.
SMRiQ9HBG6. Positions 13-190, 235-270, 318-350.
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.
GeneTreeiENSGT00390000001016.
HOGENOMiHOG000261131.
HOVERGENiHBG069969.
InParanoidiQ9HBG6.
OMAiPMYQYLE.
OrthoDBiEOG7P2XR8.
PhylomeDBiQ9HBG6.
TreeFamiTF105855.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
2.130.10.10. 3 hits.
InterProiIPR011044. Quino_amine_DH_bsu.
IPR011990. TPR-like_helical_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50969. SSF50969. 3 hits.
SSF50978. SSF50978. 2 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

        10         20         30         40         50
MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK
60 70 80 90 100
GHKDTVYCVA YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS
110 120 130 140 150
YNPITHQLAS CSSSDFGLWS PEQKSVSKHK SSSKIICCSW TNDGQYLALG
160 170 180 190 200
MFNGIISIRN KNGEEKVKIE RPGGSLSPIW SICWNPSSRW ESFWMNRENE
210 220 230 240 250
DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD SPRDDNLEER
260 270 280 290 300
NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS
310 320 330 340 350
DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL
360 370 380 390 400
IFSTVHGLYK DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR
410 420 430 440 450
LAIQLPEKIL IYELYSEDLS DMHYRVKEKI IKKFECNLLV VCANHIILCQ
460 470 480 490 500
EKRLQCLSFS GVKEREWQME SLIRYIKVIG GPPGREGLLV GLKNGQILKI
510 520 530 540 550
FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV YDIDTKELLF
560 570 580 590 600
QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS
610 620 630 640 650
KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA
660 670 680 690 700
MEALEGLDFE TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF
710 720 730 740 750
SYQGKFHEAA KLYKRSGHEN LALEMYTDLC MFEYAKDFLG SGDPKETKML
760 770 780 790 800
ITKQADWARN IKEPKAAVEM YISAGEHVKA IEICGDHGWV DMLIDIARKL
810 820 830 840 850
DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL HVETQRWDEA
860 870 880 890 900
FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ
910 920 930 940 950
LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE
960 970 980 990 1000
LYHGYHAIHR HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF
1010 1020 1030 1040 1050
TLAKQSKALG AYRLARHAYD KLRGLYIPAR FQKSIELGTL TIRAKPFHDS
1060 1070 1080 1090 1100
EELVPLCYRC STNNPLLNNL GNVCINCRQP FIFSASSYDV LHLVEFYLEE
1110 1120 1130 1140 1150
GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET KDSIGDEDPF
1160 1170 1180 1190 1200
TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP
1210 1220 1230 1240
DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P
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:
EMBLi
GenBanki
DDBJi
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. [Q9HBG6-6]
NP_001267474.1. NM_001280545.1. [Q9HBG6-8]
NP_001267475.1. NM_001280546.1. [Q9HBG6-7]
NP_060732.2. NM_018262.3. [Q9HBG6-3]
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. [Q9HBG6-8]
ENST00000440957; ENSP00000401569; ENSG00000163913. [Q9HBG6-7]
ENST00000504021; ENSP00000422179; ENSG00000163913. [Q9HBG6-9]
ENST00000507564; ENSP00000425536; ENSG00000163913. [Q9HBG6-6]
GeneIDi55764.
KEGGihsa:55764.
UCSCiuc003eml.3. human.
uc003emm.3. human. [Q9HBG6-1]
uc003emn.3. human. [Q9HBG6-3]
uc003emo.3. human. [Q9HBG6-4]

Polymorphism databases

DMDMi212276436.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q9HBG6-6 ]
NP_001267474.1. NM_001280545.1. [Q9HBG6-8 ]
NP_001267475.1. NM_001280546.1. [Q9HBG6-7 ]
NP_060732.2. NM_018262.3. [Q9HBG6-3 ]
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 13-190, 235-270, 318-350.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120882. 11 interactions.
IntActi Q9HBG6. 4 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 . [Q9HBG6-8 ]
ENST00000440957 ; ENSP00000401569 ; ENSG00000163913 . [Q9HBG6-7 ]
ENST00000504021 ; ENSP00000422179 ; ENSG00000163913 . [Q9HBG6-9 ]
ENST00000507564 ; ENSP00000425536 ; ENSG00000163913 . [Q9HBG6-6 ]
GeneIDi 55764.
KEGGi hsa:55764.
UCSCi uc003eml.3. human.
uc003emm.3. human. [Q9HBG6-1 ]
uc003emn.3. human. [Q9HBG6-3 ]
uc003emo.3. human. [Q9HBG6-4 ]

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.
GeneTreei ENSGT00390000001016.
HOGENOMi HOG000261131.
HOVERGENi HBG069969.
InParanoidi Q9HBG6.
OMAi PMYQYLE.
OrthoDBi EOG7P2XR8.
PhylomeDBi Q9HBG6.
TreeFami TF105855.

Enzyme and pathway databases

Reactomei REACT_267634. Hedgehog 'off' state.
SignaLinki Q9HBG6.

Miscellaneous databases

ChiTaRSi IFT122. human.
GenomeRNAii 55764.
NextBioi 35470374.
PROi Q9HBG6.
SOURCEi Search...

Gene expression databases

Bgeei Q9HBG6.
CleanExi HS_IFT122.
ExpressionAtlasi Q9HBG6. baseline and differential.
Genevestigatori Q9HBG6.

Family and domain databases

Gene3Di 1.25.40.10. 3 hits.
2.130.10.10. 3 hits.
InterProi IPR011044. Quino_amine_DH_bsu.
IPR011990. TPR-like_helical_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 1 hit.
[Graphical view ]
SMARTi SM00320. WD40. 7 hits.
[Graphical view ]
SUPFAMi SSF50969. SSF50969. 3 hits.
SSF50978. SSF50978. 2 hits.
PROSITEi PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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: November 26, 2014
This is version 117 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