Q7Z4L5 (TT21B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tetratricopeptide repeat protein 21B
Short name=TPR repeat protein 21B

Gene names

Name:	TTC21B
Synonyms:	KIAA1992
ORF Names:	Nbla10696

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1316 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › cilium 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 Asphyxiating thoracic dystrophy 4 (ATD4) [MIM:613819]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. 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 (JBTS) [MIM:213300]: 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.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy Disease mutation Joubert syndrome Meckel syndrome Mental retardation Nephronophthisis Obesity
Domain	Repeat TPR repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium morphogenesis Inferred from electronic annotation. Source: Compara intraflagellar transport Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from electronic annotation. Source: Compara
Cellular_component	cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell cytoskeleton Inferred from electronic annotation. Source: UniProtKB-KW intraflagellar transport particle A Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1316	1316	Tetratricopeptide repeat protein 21B		PRO_0000291917
Regions
	Repeat	108 – 141	34	TPR 1
	Repeat	145 – 178	34	TPR 2
	Repeat	180 – 211	32	TPR 3
	Repeat	285 – 323	39	TPR 4
	Repeat	324 – 357	34	TPR 5
	Repeat	492 – 525	34	TPR 6
	Repeat	563 – 596	34	TPR 7
	Repeat	617 – 650	34	TPR 8
	Repeat	722 – 755	34	TPR 9
	Repeat	757 – 789	33	TPR 10
	Repeat	791 – 822	32	TPR 11
	Repeat	831 – 864	34	TPR 12
	Repeat	884 – 917	34	TPR 13
	Repeat	919 – 951	33	TPR 14
	Repeat	952 – 985	34	TPR 15
	Repeat	1023 – 1056	34	TPR 16
	Repeat	1197 – 1230	34	TPR 17
	Repeat	1232 – 1264	33	TPR 18
	Repeat	1266 – 1299	34	TPR 19
Natural variations
	Alternative sequence	463 – 482	20	PASPG…ISVLE → VSNYGTYFQGCVYLMFYERT in isoform 2.		VSP_026306
	Alternative sequence	483 – 1316	834	Missing in isoform 2.		VSP_026307
	Natural variant	60	1	F → 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 variant	66	1	K → R. Ref.7		VAR_065515
	Natural variant	150	1	W → R in NPHP12; with extra-renal features; functionally null mutation in vitro. Ref.7		VAR_065516
	Natural variant	157	1	K → 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 variant	201	1	V → M. Ref.1 Ref.3 Ref.4 Corresponds to variant rs1432273 [ dbSNP | Ensembl ].		VAR_032888
	Natural variant	209	1	P → 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 variant	222	1	Q → 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		VAR_065519
	Natural variant	231	1	T → S in ATD4, 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		VAR_065520
	Natural variant	242	1	D → N. Ref.7		VAR_065521
	Natural variant	255	1	Y → 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 variant	276	1	T → A. Ref.1 Ref.3 Ref.4 Corresponds to variant rs7592429 [ dbSNP | Ensembl ].		VAR_032889
	Natural variant	280	1	M → 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		VAR_065523
	Natural variant	327	1	A → S Found in a patient with Meckel-Gruber syndrome also carrying a mutation in CC2D2A; hypomorphic variant in vitro. Ref.7		VAR_065524
	Natural variant	347	1	Y → 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 variant	411	1	R → G in BBS; the patient also carries a homozygous frameshift mutation in BBS7; hypomorphic variant in vitro. Ref.7		VAR_065526
	Natural variant	412	1	Q → R. Ref.7		VAR_065527
	Natural variant	424	1	D → E. Ref.7		VAR_065528
	Natural variant	463	1	P → S. Corresponds to variant rs16851307 [ dbSNP | Ensembl ].		VAR_032890
	Natural variant	473	1	L → F. Corresponds to variant rs2163649 [ dbSNP | Ensembl ].		VAR_032891
	Natural variant	566	1	H → R in NPHP12; functionally null mutation in vitro. Ref.7		VAR_065529
	Natural variant	591	1	S → N in JBTS; hypomorphic variant in vitro. Ref.7		VAR_065530
	Natural variant	616	1	R → C. Ref.7		VAR_065531
	Natural variant	624	1	I → V. Ref.7		VAR_065532
	Natural variant	645	1	H → R. Ref.7		VAR_065533
	Natural variant	724	1	S → T. Ref.7		VAR_065534
	Natural variant	753	1	P → 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 variant	755	1	D → Y in ATD4; functionally null mutation in vitro. Ref.7		VAR_065536
	Natural variant	795	1	L → P in ATD4; functionally null mutation in vitro. Ref.7		VAR_065537
	Natural variant	844	1	M → V Found in a patient with Meckel-Gruber syndrome; functionally null mutation in vitro. Ref.7		VAR_065538
	Natural variant	846	1	K → R. Corresponds to variant rs7595010 [ dbSNP | Ensembl ].		VAR_032892
	Natural variant	867	1	R → C in JBTS; functionally null mutation in vitro. Ref.7		VAR_065539
	Natural variant	867	1	R → H Found in a patient with Meckel-Gruber syndrome also carrying a homozygous variant in CC2D2A; functionally null mutation in vitro. Ref.7		VAR_065540
	Natural variant	869	1	Q → R Found in a patient with Meckel-Gruber like syndrome; hypomorphic variant in vitro. Ref.7		VAR_065541
	Natural variant	939	1	R → Q Hypomorphic variant in vitro. Ref.7		VAR_065542
	Natural variant	939	1	R → W Functionally null mutation in vitro. Ref.7		VAR_065543
	Natural variant	1002	1	L → 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		VAR_065544
	Natural variant	1011	1	M → T in JBTS. Ref.8		VAR_068172
	Natural variant	1011	1	M → V. Ref.7		VAR_065545
	Natural variant	1035	1	Y → C. Ref.7		VAR_065546
	Natural variant	1041	1	D → 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 variant	1103	1	T → R in BBS; the patient also carries two mutations in BBS6; hypomorphic variant in vitro. Ref.7		VAR_065548
	Natural variant	1167	1	Y → C in NPHP12; hypomorphic variant in vitro. Ref.7		VAR_065549
	Natural variant	1186	1	M → V in JBTS; hypomorphic variant in vitro. Ref.7		VAR_065550
	Natural variant	1208	1	I → S in BBS; the patients also carries two mutations in BBS1; functionally null mutation in vitro. Ref.7		VAR_065551
	Natural variant	1284	1	D → H. Ref.7		VAR_065552
	Natural variant	1311	1	R → G. Ref.7		VAR_065553
Experimental info
	Sequence conflict	227	1	D → N in BAE45724. Ref.1
	Sequence conflict	669	1	D → G in BAB71404. Ref.4
	Sequence conflict	1187	1	N → D in BAB13836. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 30, 2010. Version 2. Checksum: 2C8505224012736B	FASTA	1,316	150,937
	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
	Isoform 2 [UniParc]. Checksum: 476B0345F3D8F36C	FASTA	482	55,527
	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 MQVSNYGTYF QGCVYLMFYE RT

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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 ATD4 SER-231; TYR-755 AND PRO-795, VARIANTS JBTS 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 ATD4 SER-231; TYR-755 AND PRO-795, CHARACTERIZATION OF VARIANTS JBTS 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 JBTS 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.
IPI	IPI00178386. IPI00847349.
RefSeq	NP_079029.3. NM_024753.4.
UniGene	Hs.310672.
3D structure databases
ProteinModelPortal	Q7Z4L5.
SMR	Q7Z4L5. Positions 2-64, 114-152, 728-821, 955-981.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z4L5. 2 interactions.
PTM databases
PhosphoSite	Q7Z4L5.
Polymorphism databases
DMDM	74762434.
Proteomic databases
PaxDb	Q7Z4L5.
PRIDE	Q7Z4L5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000243344; ENSP00000243344; ENSG00000123607. ENST00000536175; ENSP00000438692; ENSG00000123607.
GeneID	79809.
KEGG	hsa:79809.
UCSC	uc002udk.3. human. uc002udl.3. human.
Organism-specific databases
CTD	79809.
GeneCards	GC02M166713.
H-InvDB	HIX0002562. HIX0024036.
HGNC	HGNC:25660. TTC21B.
HPA	HPA035495.
MIM	209900. phenotype. 213300. phenotype. 612014. gene. 613819. phenotype. 613820. phenotype.
neXtProt	NX_Q7Z4L5.
Orphanet	93591. Infantile autosomal recessive medullary cystic kidney disease. 474. Jeune syndrome.
PharmGKB	PA134882767.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG82907.
HOVERGEN	HBG108607.
OMA	LAFSRTC.
OrthoDB	EOG43R3KT.
PhylomeDB	Q7Z4L5.
Gene expression databases
ArrayExpress	Q7Z4L5.
Bgee	Q7Z4L5.
CleanEx	HS_TTC21B.
Genevestigator	Q7Z4L5.
Family and domain databases
Gene3D	1.25.40.10. 7 hits.
InterPro	IPR001440. TPR-1. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR013105. TPR_2. IPR019734. TPR_repeat. [Graphical view]
Pfam	PF00515. TPR_1. 1 hit. PF07719. TPR_2. 3 hits. PF13174. TPR_6. 1 hit. [Graphical view]
SMART	SM00028. TPR. 14 hits. [Graphical view]
PROSITE	PS50005. TPR. 10 hits. PS50293. TPR_REGION. 5 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TTC21B. human.
GenomeRNAi	79809.
NextBio	69392.
SOURCE	Search...

Entry information

Entry name

TT21B_HUMAN

Accession

Primary (citable) accession number: Q7Z4L5
Secondary accession number(s): A8MUZ3 , 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:	May 1, 2013
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.