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Q9HBG6 (IF122_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Intraflagellar transport protein 122 homolog
Alternative name(s):
WD repeat-containing protein 10
WD repeat-containing protein 140
Gene names
Name:IFT122
Synonyms:SPG, WDR10, WDR140
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1241 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Component of the IFT complex A (IFT-A) complex. Ref.7

Subcellular location

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

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Contains 7 WD repeats.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
   DiseaseCiliopathy
Disease mutation
Ectodermal dysplasia
   DomainRepeat
WD repeat
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcamera-type eye morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

ciliary receptor clustering involved in smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

cilium morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic body morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic heart tube development

Inferred from sequence or structural similarity. Source: UniProtKB

intraciliary retrograde transport

Inferred from sequence or structural similarity. Source: UniProtKB

limb development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of smoothened signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

neural tube closure

Inferred from sequence or structural similarity. Source: UniProtKB

smoothened signaling pathway involved in dorsal/ventral neural tube patterning

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-KW

intraciliary transport particle A

Inferred from direct assay Ref.7. Source: UniProtKB

photoreceptor connecting cilium

Inferred from sequence or structural similarity. Source: UniProtKB

primary cilium

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ORFQ9Q2G43EBI-2805994,EBI-6248094From a different organism.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HBG6-1)

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.
Isoform 2 (identifier: Q9HBG6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     996-996: V → VR
Isoform 3 (identifier: Q9HBG6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
Isoform 4 (identifier: Q9HBG6-4)

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.
Isoform 5 (identifier: Q9HBG6-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12411241Intraflagellar transport protein 122 homolog
PRO_0000051045

Regions

Repeat10 – 5041WD 1
Repeat51 – 9141WD 2
Repeat93 – 12937WD 3
Repeat131 – 16939WD 4
Repeat278 – 31740WD 5
Repeat319 – 35941WD 6
Repeat512 – 55140WD 7

Natural variations

Alternative sequence65 – 11652Missing in isoform 4.
VSP_043310
Alternative sequence911T → TSWSVMSSLHLHLPFLGLHK TVRVTATDKAPKGQGGRIDC LRPSVQNQPGQK in isoform 5.
VSP_045224
Alternative sequence188 – 24760SRWES…RDDNL → R in isoform 3 and isoform 4.
VSP_041161
Alternative sequence9301Q → QA in isoform 4.
VSP_043311
Alternative sequence9961V → VR in isoform 2.
VSP_035605
Natural variant71W → C in CED1. Ref.8
VAR_063584
Natural variant3221S → F in CED1. Ref.8
VAR_063585
Natural variant5021V → G in CED1. Ref.8
VAR_063586

Experimental info

Sequence conflict2731I → T in AAG15427. Ref.1
Sequence conflict4891L → S in BAD96815. Ref.3
Sequence conflict6871R → Q in AAG15428. Ref.1
Sequence conflict9071A → V in AAG15428. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 4, 2008. Version 2.
Checksum: 6C3C543369A6BDF5

FASTA1,241141,825
        10         20         30         40         50         60 
MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK GHKDTVYCVA 

        70         80         90        100        110        120 
YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS YNPITHQLAS CSSSDFGLWS 

       130        140        150        160        170        180 
PEQKSVSKHK SSSKIICCSW TNDGQYLALG MFNGIISIRN KNGEEKVKIE RPGGSLSPIW 

       190        200        210        220        230        240 
SICWNPSSRW ESFWMNRENE DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD 

       250        260        270        280        290        300 
SPRDDNLEER NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS 

       310        320        330        340        350        360 
DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL IFSTVHGLYK 

       370        380        390        400        410        420 
DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR LAIQLPEKIL IYELYSEDLS 

       430        440        450        460        470        480 
DMHYRVKEKI IKKFECNLLV VCANHIILCQ EKRLQCLSFS GVKEREWQME SLIRYIKVIG 

       490        500        510        520        530        540 
GPPGREGLLV GLKNGQILKI FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV 

       550        560        570        580        590        600 
YDIDTKELLF QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS 

       610        620        630        640        650        660 
KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA MEALEGLDFE 

       670        680        690        700        710        720 
TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF SYQGKFHEAA KLYKRSGHEN 

       730        740        750        760        770        780 
LALEMYTDLC MFEYAKDFLG SGDPKETKML ITKQADWARN IKEPKAAVEM YISAGEHVKA 

       790        800        810        820        830        840 
IEICGDHGWV DMLIDIARKL DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL 

       850        860        870        880        890        900 
HVETQRWDEA FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ 

       910        920        930        940        950        960 
LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE LYHGYHAIHR 

       970        980        990       1000       1010       1020 
HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF TLAKQSKALG AYRLARHAYD 

      1030       1040       1050       1060       1070       1080 
KLRGLYIPAR FQKSIELGTL TIRAKPFHDS EELVPLCYRC STNNPLLNNL GNVCINCRQP 

      1090       1100       1110       1120       1130       1140 
FIFSASSYDV LHLVEFYLEE GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET 

      1150       1160       1170       1180       1190       1200 
KDSIGDEDPF TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP 

      1210       1220       1230       1240 
DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P 

« Hide

Isoform 2 [UniParc].

Checksum: 9A8CB711397BEFA2
Show »

FASTA1,242141,981
Isoform 3 [UniParc].

Checksum: 656347FD84660F4E
Show »

FASTA1,182134,947
Isoform 4 [UniParc].

Checksum: C5B817F74CDF0FD5
Show »

FASTA1,131129,360
Isoform 5 [UniParc].

Checksum: 654E06B93117E686
Show »

FASTA1,292147,386

References

« Hide 'large scale' references
[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] (ISOFORMS 2 AND 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]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[4]"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. expand/collapse author list , 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].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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.
[7]"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.
[8]"Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene."
Walczak-Sztulpa J., Eggenschwiler J., Osborn D., Brown D.A., Emma F., Klingenberg C., Hennekam R.C., Torre G., Garshasbi M., Tzschach A., Szczepanska M., Krawczynski M., Zachwieja J., Zwolinska D., Beales P.L., Ropers H.H., Latos-Bielenska A., Kuss A.W.
Am. J. Hum. Genet. 86:949-956(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CED1 CYS-7; PHE-322 AND GLY-502.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF244930 mRNA. Translation: AAG15427.1.
AF244931 mRNA. Translation: AAG15428.1.
AF302154 mRNA. Translation: AAG13415.1.
AK223095 mRNA. Translation: BAD96815.1.
AC080007 Genomic DNA. No translation available.
AL449212 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79247.1.
CH471052 Genomic DNA. Translation: EAW79249.1.
CH471052 Genomic DNA. Translation: EAW79250.1.
BC003045 mRNA. Translation: AAH03045.2.
BC004238 mRNA. Translation: AAH04238.1.
PIRT43484.
RefSeqNP_001267470.1. NM_001280541.1.
NP_001267474.1. NM_001280545.1.
NP_443711.2. NM_052985.3.
NP_443715.1. NM_052989.2.
NP_443716.1. NM_052990.2.
XP_005247661.1. XM_005247604.2.
UniGeneHs.655284.

3D structure databases

ProteinModelPortalQ9HBG6.
SMRQ9HBG6. Positions 13-190.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120882. 3 interactions.
IntActQ9HBG6. 2 interactions.
STRING9606.ENSP00000296266.

PTM databases

PhosphoSiteQ9HBG6.

Polymorphism databases

DMDM212276436.

Proteomic databases

PaxDbQ9HBG6.
PRIDEQ9HBG6.

Protocols and materials databases

DNASU55764.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296266; ENSP00000296266; ENSG00000163913. [Q9HBG6-5]
ENST00000347300; ENSP00000323973; ENSG00000163913. [Q9HBG6-3]
ENST00000348417; ENSP00000324005; ENSG00000163913. [Q9HBG6-1]
ENST00000349441; ENSP00000324165; ENSG00000163913. [Q9HBG6-4]
GeneID55764.
KEGGhsa:55764.
UCSCuc003eml.3. human.
uc003emm.3. human. [Q9HBG6-1]
uc003emn.3. human. [Q9HBG6-3]
uc003emo.3. human. [Q9HBG6-4]

Organism-specific databases

CTD55764.
GeneCardsGC03P129158.
H-InvDBHIX0003670.
HIX0163443.
HGNCHGNC:13556. IFT122.
HPAHPA041815.
MIM218330. phenotype.
606045. gene.
neXtProtNX_Q9HBG6.
Orphanet1515. Cranioectodermal dysplasia.
PharmGKBPA37798.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000261131.
HOVERGENHBG069969.
OMADSPRDDN.
OrthoDBEOG7P2XR8.
PhylomeDBQ9HBG6.
TreeFamTF105855.

Enzyme and pathway databases

SignaLinkQ9HBG6.

Gene expression databases

ArrayExpressQ9HBG6.
BgeeQ9HBG6.
CleanExHS_IFT122.
GenevestigatorQ9HBG6.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
2.130.10.10. 3 hits.
InterProIPR011990. TPR-like_helical.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 2 hits.
[Graphical view]
SMARTSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 3 hits.
PROSITEPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55764.
NextBio60799.
PROQ9HBG6.
SOURCESearch...

Entry information

Entry nameIF122_HUMAN
AccessionPrimary (citable) accession number: Q9HBG6
Secondary accession number(s): G3XAB1 expand/collapse secondary AC list , Q53G36, Q9BTB9, Q9BTY4, Q9HAT9, Q9HBG5, Q9UF80
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: November 4, 2008
Last modified: April 16, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM