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Q7Z4L5 (TT21B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tetratricopeptide repeat protein 21B

Short name=TPR repeat protein 21B
Gene names
Name:TTC21B
Synonyms:KIAA1992
ORF Names:Nbla10696
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1316 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively modulates the SHH signal transduction By similarity.

Subunit structure

Component of the IFT complex A (IFT-A). Ref.6

Subcellular location

Cytoplasmcytoskeletoncilium axoneme By similarity.

Involvement in disease

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. TTC21B is causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. TTC21B mutations interact in trans with mutations in other ciliopathy-causing genes and contribute to disease manifestation and severity.

Nephronophthisis 12 (NPHP12) [MIM:613820]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.7

Joubert syndrome 11 (JBTS11) [MIM:613820]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Sequence similarities

Belongs to the TTC21 family.

Contains 19 TPR repeats.

Sequence caution

The sequence AAY14750.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAB13836.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z4L5-1)

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: Q7Z4L5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     463-482: PASPGQPLCPLLRRCISVLE → VSNYGTYFQGCVYLMFYERT
     483-1316: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13161316Tetratricopeptide repeat protein 21B
PRO_0000291917

Regions

Repeat108 – 14134TPR 1
Repeat145 – 17834TPR 2
Repeat180 – 21132TPR 3
Repeat285 – 32339TPR 4
Repeat324 – 35734TPR 5
Repeat492 – 52534TPR 6
Repeat563 – 59634TPR 7
Repeat617 – 65034TPR 8
Repeat722 – 75534TPR 9
Repeat757 – 78933TPR 10
Repeat791 – 82232TPR 11
Repeat831 – 86434TPR 12
Repeat884 – 91734TPR 13
Repeat919 – 95133TPR 14
Repeat952 – 98534TPR 15
Repeat1023 – 105634TPR 16
Repeat1197 – 123034TPR 17
Repeat1232 – 126433TPR 18
Repeat1266 – 129934TPR 19

Natural variations

Alternative sequence463 – 48220PASPG…ISVLE → VSNYGTYFQGCVYLMFYERT in isoform 2.
VSP_026306
Alternative sequence483 – 1316834Missing in isoform 2.
VSP_026307
Natural variant601F → Y Found in a patient with Meckel-Gruber like syndrome also carrying variant C-671 in BBS7; hypomorphic variant in vitro. Ref.7
VAR_065514
Natural variant661K → R. Ref.7
VAR_065515
Natural variant1501W → R in NPHP12; with extra-renal features; functionally null mutation in vitro. Ref.7
VAR_065516
Natural variant1571K → E in BBS; hypomorphic variant in vitro; the patient also carries a frame-shift mutation and variant M-501 in BBS12. Ref.7
VAR_065517
Natural variant2011V → M. Ref.1 Ref.3 Ref.4
Corresponds to variant rs1432273 [ dbSNP | Ensembl ].
VAR_032888
Natural variant2091P → L in NPHP12; hypomorphic variant in vitro; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4. Ref.7
VAR_065518
Natural variant2221Q → L Found in a patient with Meckel-Gruber like syndrome also carrying variant V-280 on the same allele and variant G-1183 in RPGRIP1L; hypomorphic variant in vitro. Ref.7
Corresponds to variant rs80026831 [ dbSNP | Ensembl ].
VAR_065519
Natural variant2311T → S in SRTD4, NPHP12 and BBS; hypomorphic variant in vitro; a patient with Bardet-Biedl syndrome also carries variants L-159 and T-346 in BBS12; also found in a patient with Meckel-Gruber syndrome carrying a homozygous variant in TMEM216. Ref.7
Corresponds to variant rs149925563 [ dbSNP | Ensembl ].
VAR_065520
Natural variant2421D → N. Ref.7
Corresponds to variant rs74447004 [ dbSNP | Ensembl ].
VAR_065521
Natural variant2551Y → C in BBS; the patient also carries a frameshift mutation and variant P-34 in BBS10; hypomorphic variant in vitro. Ref.7
VAR_065522
Natural variant2761T → A. Ref.1 Ref.3 Ref.4
Corresponds to variant rs7592429 [ dbSNP | Ensembl ].
VAR_032889
Natural variant2801M → V Found in a patient with Meckel-Gruber like syndrome also carrying L-222 on the same allele and variant G-1183 in RPGRIP1L; hypomorphic variant in vitro. Ref.7
Corresponds to variant rs112868646 [ dbSNP | Ensembl ].
VAR_065523
Natural variant3271A → S Found in a patient with Meckel-Gruber syndrome also carrying a mutation in CC2D2A; hypomorphic variant in vitro. Ref.7
VAR_065524
Natural variant3471Y → C Found in a patient with Meckel-Gruber syndrome also carrying N-1041 on the same allele; hypomorphic variant in vitro. Ref.7
VAR_065525
Natural variant4111R → G in BBS; the patient also carries a homozygous frameshift mutation in BBS7; hypomorphic variant in vitro. Ref.7
Corresponds to variant rs185089786 [ dbSNP | Ensembl ].
VAR_065526
Natural variant4121Q → R. Ref.7
Corresponds to variant rs199873923 [ dbSNP | Ensembl ].
VAR_065527
Natural variant4241D → E. Ref.7
VAR_065528
Natural variant4631P → S.
Corresponds to variant rs16851307 [ dbSNP | Ensembl ].
VAR_032890
Natural variant4731L → F.
Corresponds to variant rs2163649 [ dbSNP | Ensembl ].
VAR_032891
Natural variant5661H → R in NPHP12; functionally null mutation in vitro. Ref.7
Corresponds to variant rs146320075 [ dbSNP | Ensembl ].
VAR_065529
Natural variant5911S → N in JBTS11; hypomorphic variant in vitro. Ref.7
VAR_065530
Natural variant6161R → C. Ref.7
Corresponds to variant rs139441507 [ dbSNP | Ensembl ].
VAR_065531
Natural variant6241I → V. Ref.7
Corresponds to variant rs77106136 [ dbSNP | Ensembl ].
VAR_065532
Natural variant6451H → R. Ref.7
Corresponds to variant rs200291881 [ dbSNP | Ensembl ].
VAR_065533
Natural variant7241S → T. Ref.7
VAR_065534
Natural variant7531P → L in NPHP12; with extra-renal features; functionally null mutation in vitro; also found in a patient with Meckel-Gruber like syndrome carrying variant D-559 in BBS1 and a variant in CC2D2A. Ref.7
VAR_065535
Natural variant7551D → Y in SRTD4; functionally null mutation in vitro. Ref.7
VAR_065536
Natural variant7951L → P in SRTD4; functionally null mutation in vitro. Ref.7
VAR_065537
Natural variant8441M → V Found in a patient with Meckel-Gruber syndrome; functionally null mutation in vitro. Ref.7
VAR_065538
Natural variant8461K → R.
Corresponds to variant rs7595010 [ dbSNP | Ensembl ].
VAR_032892
Natural variant8671R → C in JBTS11; functionally null mutation in vitro. Ref.7
VAR_065539
Natural variant8671R → H Found in a patient with Meckel-Gruber syndrome also carrying a homozygous variant in CC2D2A; functionally null mutation in vitro. Ref.7
Corresponds to variant rs76726265 [ dbSNP | Ensembl ].
VAR_065540
Natural variant8691Q → R Found in a patient with Meckel-Gruber like syndrome; hypomorphic variant in vitro. Ref.7
VAR_065541
Natural variant9391R → Q Hypomorphic variant in vitro. Ref.7
VAR_065542
Natural variant9391R → W Functionally null mutation in vitro. Ref.7
VAR_065543
Natural variant10021L → V Found in a patient with Meckel-Gruber like syndrome; also found in patients with Bardet-Bied syndrome; also found in a patient with nephronophthisis with extra-renal features; hypomorphic variant in vitro. Ref.7
Corresponds to variant rs146496725 [ dbSNP | Ensembl ].
VAR_065544
Natural variant10111M → T in JBTS11. Ref.8
VAR_068172
Natural variant10111M → V. Ref.7
VAR_065545
Natural variant10351Y → C. Ref.7
VAR_065546
Natural variant10411D → N Found in a patient with Meckel-Gruber syndrome also carrying C-347 on the same allele; functionally null mutation in vitro. Ref.7
VAR_065547
Natural variant11031T → R in BBS; the patient also carries two mutations in BBS6; hypomorphic variant in vitro. Ref.7
VAR_065548
Natural variant11671Y → C in NPHP12; hypomorphic variant in vitro. Ref.7
VAR_065549
Natural variant11861M → V in JBTS11; hypomorphic variant in vitro. Ref.7
VAR_065550
Natural variant12081I → S in BBS; the patients also carries two mutations in BBS1; functionally null mutation in vitro. Ref.7
Corresponds to variant rs189519760 [ dbSNP | Ensembl ].
VAR_065551
Natural variant12841D → H. Ref.7
Corresponds to variant rs139537546 [ dbSNP | Ensembl ].
VAR_065552
Natural variant13111R → G. Ref.7
VAR_065553

Experimental info

Sequence conflict2271D → N in BAE45724. Ref.1
Sequence conflict6691D → G in BAB71404. Ref.4
Sequence conflict11871N → D in BAB13836. Ref.4

Sequences

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

Last modified November 30, 2010. Version 2.
Checksum: 2C8505224012736B

FASTA1,316150,937
        10         20         30         40         50         60 
MDSQELKTLI NYYCQERYFH HVLLVASEGI KRYGSDPVFR FYHAYGTLME GKTQEALREF 

        70         80         90        100        110        120 
EAIKNKQDVS LCSLLALIYA HKMSPNPDRE AILESDARVK EQRKGAGEKA LYHAGLFLWH 

       130        140        150        160        170        180 
IGRHDKAREY IDRMIKISDG SKQGHVLKAW LDITRGKEPY TKKALKYFEE GLQDGNDTFA 

       190        200        210        220        230        240 
LLGKAQCLEM RQNYSGALET VNQIIVNFPS FLPAFVKKMK LQLALQDWDQ TVETAQRLLL 

       250        260        270        280        290        300 
QDSQNVEALR MQALYYVCRE GDIEKASTKL ENLGNTLDAM EPQNAQLFYN ITLAFSRTCG 

       310        320        330        340        350        360 
RSQLILQKIQ TLLERAFSLN PQQSEFATEL GYQMILQGRV KEALKWYKTA MTLDETSVSA 

       370        380        390        400        410        420 
LVGFIQCQLI EGQLQDADQQ LEFLNEIQQS IGKSAELIYL HAVLAMKKNK RQEEVINLLN 

       430        440        450        460        470        480 
DVLDTHFSQL EGLPLGIQYF EKLNPDFLLE IVMEYLSFCP MQPASPGQPL CPLLRRCISV 

       490        500        510        520        530        540 
LETVVRTVPG LLQTVFLIAK VKYLSGDIEA AFNNLQHCLE HNPSYADAHL LLAQVYLSQE 

       550        560        570        580        590        600 
KVKLCSQSLE LCLSYDFKVR DYPLYHLIKA QSQKKMGEIA DAIKTLHMAM SLPGMKRIGA 

       610        620        630        640        650        660 
STKSKDRKTE VDTSHRLSIF LELIDVHRLN GEQHEATKVL QDAIHEFSGT SEEVRVTIAN 

       670        680        690        700        710        720 
ADLALAQGDI ERALSILQNV TAEQPYFIEA REKMADIYLK HRKDKMLYIT CFREIAERMA 

       730        740        750        760        770        780 
NPRSFLLLGD AYMNILEPEE AIVAYEQALN QNPKDGTLAS KMGKALIKTH NYSMAITYYE 

       790        800        810        820        830        840 
AALKTGQKNY LCYDLAELLL KLKWYDKAEK VLQHALAHEP VNELSALMED GRCQVLLAKV 

       850        860        870        880        890        900 
YSKMEKLGDA ITALQQAREL QARVLKRVQM EQPDAVPAQK HLAAEICAEI AKHSVAQRDY 

       910        920        930        940        950        960 
EKAIKFYREA LVHCETDNKI MLELARLYLA QDDPDSCLRQ CALLLQSDQD NEAATMMMAD 

       970        980        990       1000       1010       1020 
LMFRKQDYEQ AVFHLQQLLE RKPDNYMTLS RLIDLLRRCG KLEDVPRFFS MAEKRNSRAK 

      1030       1040       1050       1060       1070       1080 
LEPGFQYCKG LYLWYTGEPN DALRHFNKAR KDRDWGQNAL YNMIEICLNP DNETVGGEVF 

      1090       1100       1110       1120       1130       1140 
ENLDGDLGNS TEKQESVQLA VRTAEKLLKE LKPQTVQGHV QLRIMENYCL MATKQKSNVE 

      1150       1160       1170       1180       1190       1200 
QALNTFTEIA ASEKEHIPAL LGMATAYMIL KQTPRARNQL KRIAKMNWNA IDAEEFEKSW 

      1210       1220       1230       1240       1250       1260 
LLLADIYIQS AKYDMAEDLL KRCLRHNRSC CKAYEYMGYI MEKEQAYTDA ALNYEMAWKY 

      1270       1280       1290       1300       1310 
SNRTNPAVGY KLAFNYLKAK RYVDSIDICH QVLEAHPTYP KIRKDILDKA RASLRP 

« Hide

Isoform 2 [UniParc].

Checksum: 476B0345F3D8F36C
Show »

FASTA48255,527

References

« Hide 'large scale' references
[1]"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS MET-201 AND ALA-276.
Tissue: Neuroblastoma.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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 1), VARIANTS MET-201 AND ALA-276.
Tissue: Adrenal cortex and Testis.
[4]"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. expand/collapse author list , 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] OF 1-701 AND 1029-1316 (ISOFORM 1), VARIANTS MET-201 AND ALA-276.
Tissue: Embryo and Testis.
[5]"Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."
Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H.
DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-1316 (ISOFORM 1).
Tissue: Brain.
[6]"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.
[7]"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum."
Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V., Muzny D.M., Young A.C., Wheeler D.A., Cruz P., Morgan M., Lewis L.R., Cherukuri P., Maskeri B. expand/collapse author list , Hansen N.F., Mullikin J.C., Blakesley R.W., Bouffard G.G., Gyapay G., Rieger S., Tonshoff B., Kern I., Soliman N.A., Neuhaus T.J., Swoboda K.J., Kayserili H., Gallagher T.E., Lewis R.A., Bergmann C., Otto E.A., Saunier S., Scambler P.J., Beales P.L., Gleeson J.G., Maher E.R., Attie-Bitach T., Dollfus H., Johnson C.A., Green E.D., Gibbs R.A., Hildebrandt F., Pierce E.A., Katsanis N.
Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANTS NPHP12 ARG-150; LEU-209; SER-231; ARG-566; LEU-753 AND CYS-1167, VARIANTS SRTD4 SER-231; TYR-755 AND PRO-795, VARIANTS JBTS11 ASN-591; CYS-867 AND VAL-1186, VARIANTS BBS GLU-157; SER-231; CYS-255; GLY-411; ARG-1103 AND SER-1208, VARIANTS TYR-60; ARG-66; LEU-222; ASN-242; VAL-280; SER-327; CYS-347; ARG-412; GLU-424; CYS-616; VAL-624; ARG-645; THR-724; VAL-844; HIS-867; ARG-869; GLN-939; TRP-939; VAL-1002; VAL-1011; CYS-1035; ASN-1041; HIS-1284 AND GLY-1311, CHARACTERIZATION OF VARIANTS NPHP12 ARG-150; LEU-209; SER-231; ARG-566; LEU-753 AND CYS-1167, CHARACTERIZATION OF VARIANTS SRTD4 SER-231; TYR-755 AND PRO-795, CHARACTERIZATION OF VARIANTS JBTS11 ASN-591; CYS-867 AND VAL-1186, CHARACTERIZATION OF VARIANTS BBS GLU-157; SER-231; CYS-255; GLY-411; ARG-1103 AND SER-1208, CHARACTERIZATION OF VARIANTS TYR-60; LEU-222; VAL-280; SER-327; CYS-347; VAL-844; HIS-867; ARG-869; GLN-939; TRP-939; VAL-1002 AND ASN-1041.
[8]"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."
Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L., Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M., Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I., Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J., Michaud J.L.
Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS11 THR-1011.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB073395 mRNA. Translation: BAE45724.1.
AC010127 Genomic DNA. No translation available.
AC011241 Genomic DNA. Translation: AAY14750.1. Sequence problems.
BC035767 mRNA. Translation: AAH35767.1.
BC055424 mRNA. Translation: AAH55424.1.
BC063579 mRNA. Translation: AAH63579.1.
AK021519 mRNA. Translation: BAB13836.1. Different initiation.
AK057268 mRNA. Translation: BAB71404.1.
AB082523 mRNA. Translation: BAC02701.1.
CCDSCCDS33315.1. [Q7Z4L5-1]
RefSeqNP_079029.3. NM_024753.4. [Q7Z4L5-1]
UniGeneHs.310672.

3D structure databases

ProteinModelPortalQ7Z4L5.
SMRQ7Z4L5. Positions 671-696, 725-821, 895-963, 1142-1168.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122904. 2 interactions.
IntActQ7Z4L5. 2 interactions.

PTM databases

PhosphoSiteQ7Z4L5.

Polymorphism databases

DMDM313104038.

Proteomic databases

MaxQBQ7Z4L5.
PaxDbQ7Z4L5.
PRIDEQ7Z4L5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000243344; ENSP00000243344; ENSG00000123607. [Q7Z4L5-1]
ENST00000536175; ENSP00000438692; ENSG00000123607.
GeneID79809.
KEGGhsa:79809.
UCSCuc002udk.3. human. [Q7Z4L5-1]
uc002udl.3. human. [Q7Z4L5-2]

Organism-specific databases

CTD79809.
GeneCardsGC02M166713.
GeneReviewsTTC21B.
H-InvDBHIX0002562.
HIX0024036.
HGNCHGNC:25660. TTC21B.
HPAHPA035494.
HPA035495.
MIM209900. phenotype.
612014. gene.
613819. phenotype.
613820. phenotype.
neXtProtNX_Q7Z4L5.
Orphanet93591. Infantile autosomal recessive medullary cystic kidney disease.
474. Jeune syndrome.
PharmGKBPA134882767.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG82907.
HOVERGENHBG108607.
OMAVYNMIEI.
OrthoDBEOG7TQV01.
PhylomeDBQ7Z4L5.
TreeFamTF314664.

Gene expression databases

ArrayExpressQ7Z4L5.
BgeeQ7Z4L5.
CleanExHS_TTC21B.
GenevestigatorQ7Z4L5.

Family and domain databases

Gene3D1.25.40.10. 7 hits.
InterProIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF00515. TPR_1. 1 hit.
PF07719. TPR_2. 1 hit.
PF13174. TPR_6. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 14 hits.
[Graphical view]
PROSITEPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTTC21B. human.
GenomeRNAi79809.
NextBio69392.
PROQ7Z4L5.
SOURCESearch...

Entry information

Entry nameTT21B_HUMAN
AccessionPrimary (citable) accession number: Q7Z4L5
Secondary accession number(s): A8MUZ3 expand/collapse secondary AC list , Q3LIE4, Q53T84, Q6P4A1, Q6PIF5, Q8NCN3, Q96MA4, Q9HAK8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 100 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 2

Human chromosome 2: entries, gene names and cross-references to MIM