Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Tetratricopeptide repeat protein 21B

Gene

TTC21B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 21B
Short name:
TPR repeat protein 21B
Gene namesi
Name:TTC21B
Synonyms:KIAA1992
ORF Names:Nbla10696
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:25660. TTC21B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:613820
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501W → R in NPHP12; with extra-renal features; functionally null mutation in vitro. 1 Publication
VAR_065516
Natural varianti209 – 2091P → L in NPHP12; hypomorphic variant in vitro; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4. 1 Publication
Corresponds to variant rs140511594 [ dbSNP | Ensembl ].
VAR_065518
Natural varianti231 – 2311T → 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. 1 Publication
Corresponds to variant rs149925563 [ dbSNP | Ensembl ].
VAR_065520
Natural varianti566 – 5661H → R in NPHP12; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs146320075 [ dbSNP | Ensembl ].
VAR_065529
Natural varianti753 – 7531P → 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. 1 Publication
Corresponds to variant rs539769126 [ dbSNP | Ensembl ].
VAR_065535
Natural varianti1167 – 11671Y → C in NPHP12; hypomorphic variant in vitro. 1 Publication
VAR_065549
Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613819
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti231 – 2311T → 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. 1 Publication
Corresponds to variant rs149925563 [ dbSNP | Ensembl ].
VAR_065520
Natural varianti755 – 7551D → Y in SRTD4; functionally null mutation in vitro. 1 Publication
VAR_065536
Natural varianti795 – 7951L → P in SRTD4; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs387907060 [ dbSNP | Ensembl ].
VAR_065537
Bardet-Biedl syndrome (BBS)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:209900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601F → Y Found in a patient with Meckel-Gruber like syndrome also carrying variant C-671 in BBS7; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs371571631 [ dbSNP | Ensembl ].
VAR_065514
Natural varianti157 – 1571K → E in BBS; hypomorphic variant in vitro; the patient also carries a frame-shift mutation and variant M-501 in BBS12. 1 Publication
VAR_065517
Natural varianti209 – 2091P → L in NPHP12; hypomorphic variant in vitro; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4. 1 Publication
Corresponds to variant rs140511594 [ dbSNP | Ensembl ].
VAR_065518
Natural varianti231 – 2311T → 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. 1 Publication
Corresponds to variant rs149925563 [ dbSNP | Ensembl ].
VAR_065520
Natural varianti255 – 2551Y → C in BBS; the patient also carries a frameshift mutation and variant P-34 in BBS10; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs377061787 [ dbSNP | Ensembl ].
VAR_065522
Natural varianti411 – 4111R → G in BBS; the patient also carries a homozygous frameshift mutation in BBS7; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs185089786 [ dbSNP | Ensembl ].
VAR_065526
Natural varianti753 – 7531P → 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. 1 Publication
Corresponds to variant rs539769126 [ dbSNP | Ensembl ].
VAR_065535
Natural varianti1103 – 11031T → R in BBS; the patient also carries two mutations in BBS6; hypomorphic variant in vitro. 1 Publication
VAR_065548
Natural varianti1208 – 12081I → S in BBS; the patients also carries two mutations in BBS1; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs189519760 [ dbSNP | Ensembl ].
VAR_065551
Joubert syndrome 11 (JBTS11)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613820
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti591 – 5911S → N in JBTS11; hypomorphic variant in vitro. 1 Publication
VAR_065530
Natural varianti867 – 8671R → C in JBTS11; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs746700857 [ dbSNP | Ensembl ].
VAR_065539
Natural varianti1011 – 10111M → T in JBTS11. 1 Publication
Corresponds to variant rs777427926 [ dbSNP | Ensembl ].
VAR_068172
Natural varianti1186 – 11861M → V in JBTS11; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs376308209 [ dbSNP | Ensembl ].
VAR_065550

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome, Mental retardation, Nephronophthisis, Obesity

Organism-specific databases

MalaCardsiTTC21B.
MIMi209900. phenotype.
613819. phenotype.
613820. phenotype.
Orphaneti93591. Infantile nephronophthisis.
474. Jeune syndrome.
PharmGKBiPA134882767.

Polymorphism and mutation databases

BioMutaiTTC21B.
DMDMi313104038.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13161316Tetratricopeptide repeat protein 21BPRO_0000291917Add
BLAST

Proteomic databases

EPDiQ7Z4L5.
MaxQBiQ7Z4L5.
PaxDbiQ7Z4L5.
PeptideAtlasiQ7Z4L5.
PRIDEiQ7Z4L5.

PTM databases

iPTMnetiQ7Z4L5.
PhosphoSiteiQ7Z4L5.

Expressioni

Gene expression databases

BgeeiENSG00000123607.
CleanExiHS_TTC21B.
ExpressionAtlasiQ7Z4L5. baseline and differential.

Organism-specific databases

HPAiHPA035494.
HPA035495.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi122904. 5 interactions.
IntActiQ7Z4L5. 2 interactions.
STRINGi9606.ENSP00000243344.

Structurei

3D structure databases

ProteinModelPortaliQ7Z4L5.
SMRiQ7Z4L5. Positions 308-362, 489-591, 723-820.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati108 – 14134TPR 1Add
BLAST
Repeati145 – 17834TPR 2Add
BLAST
Repeati180 – 21132TPR 3Add
BLAST
Repeati285 – 32339TPR 4Add
BLAST
Repeati324 – 35734TPR 5Add
BLAST
Repeati492 – 52534TPR 6Add
BLAST
Repeati563 – 59634TPR 7Add
BLAST
Repeati617 – 65034TPR 8Add
BLAST
Repeati722 – 75534TPR 9Add
BLAST
Repeati757 – 78933TPR 10Add
BLAST
Repeati791 – 82232TPR 11Add
BLAST
Repeati831 – 86434TPR 12Add
BLAST
Repeati884 – 91734TPR 13Add
BLAST
Repeati919 – 95133TPR 14Add
BLAST
Repeati952 – 98534TPR 15Add
BLAST
Repeati1023 – 105634TPR 16Add
BLAST
Repeati1197 – 123034TPR 17Add
BLAST
Repeati1232 – 126433TPR 18Add
BLAST
Repeati1266 – 129934TPR 19Add
BLAST

Sequence similaritiesi

Belongs to the TTC21 family.Curated
Contains 19 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IEX1. Eukaryota.
ENOG410XV69. LUCA.
GeneTreeiENSGT00390000005979.
HOVERGENiHBG108607.
InParanoidiQ7Z4L5.
KOiK19673.
OMAiVYNMIEI.
OrthoDBiEOG091G00TY.
PhylomeDBiQ7Z4L5.
TreeFamiTF314664.

Family and domain databases

Gene3Di1.25.40.10. 7 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 18 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 5 hits.
PROSITEiPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 5 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z4L5-1) [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
MDSQELKTLI NYYCQERYFH HVLLVASEGI KRYGSDPVFR FYHAYGTLME
60 70 80 90 100
GKTQEALREF EAIKNKQDVS LCSLLALIYA HKMSPNPDRE AILESDARVK
110 120 130 140 150
EQRKGAGEKA LYHAGLFLWH IGRHDKAREY IDRMIKISDG SKQGHVLKAW
160 170 180 190 200
LDITRGKEPY TKKALKYFEE GLQDGNDTFA LLGKAQCLEM RQNYSGALET
210 220 230 240 250
VNQIIVNFPS FLPAFVKKMK LQLALQDWDQ TVETAQRLLL QDSQNVEALR
260 270 280 290 300
MQALYYVCRE GDIEKASTKL ENLGNTLDAM EPQNAQLFYN ITLAFSRTCG
310 320 330 340 350
RSQLILQKIQ TLLERAFSLN PQQSEFATEL GYQMILQGRV KEALKWYKTA
360 370 380 390 400
MTLDETSVSA LVGFIQCQLI EGQLQDADQQ LEFLNEIQQS IGKSAELIYL
410 420 430 440 450
HAVLAMKKNK RQEEVINLLN DVLDTHFSQL EGLPLGIQYF EKLNPDFLLE
460 470 480 490 500
IVMEYLSFCP MQPASPGQPL CPLLRRCISV LETVVRTVPG LLQTVFLIAK
510 520 530 540 550
VKYLSGDIEA AFNNLQHCLE HNPSYADAHL LLAQVYLSQE KVKLCSQSLE
560 570 580 590 600
LCLSYDFKVR DYPLYHLIKA QSQKKMGEIA DAIKTLHMAM SLPGMKRIGA
610 620 630 640 650
STKSKDRKTE VDTSHRLSIF LELIDVHRLN GEQHEATKVL QDAIHEFSGT
660 670 680 690 700
SEEVRVTIAN ADLALAQGDI ERALSILQNV TAEQPYFIEA REKMADIYLK
710 720 730 740 750
HRKDKMLYIT CFREIAERMA NPRSFLLLGD AYMNILEPEE AIVAYEQALN
760 770 780 790 800
QNPKDGTLAS KMGKALIKTH NYSMAITYYE AALKTGQKNY LCYDLAELLL
810 820 830 840 850
KLKWYDKAEK VLQHALAHEP VNELSALMED GRCQVLLAKV YSKMEKLGDA
860 870 880 890 900
ITALQQAREL QARVLKRVQM EQPDAVPAQK HLAAEICAEI AKHSVAQRDY
910 920 930 940 950
EKAIKFYREA LVHCETDNKI MLELARLYLA QDDPDSCLRQ CALLLQSDQD
960 970 980 990 1000
NEAATMMMAD LMFRKQDYEQ AVFHLQQLLE RKPDNYMTLS RLIDLLRRCG
1010 1020 1030 1040 1050
KLEDVPRFFS MAEKRNSRAK LEPGFQYCKG LYLWYTGEPN DALRHFNKAR
1060 1070 1080 1090 1100
KDRDWGQNAL YNMIEICLNP DNETVGGEVF ENLDGDLGNS TEKQESVQLA
1110 1120 1130 1140 1150
VRTAEKLLKE LKPQTVQGHV QLRIMENYCL MATKQKSNVE QALNTFTEIA
1160 1170 1180 1190 1200
ASEKEHIPAL LGMATAYMIL KQTPRARNQL KRIAKMNWNA IDAEEFEKSW
1210 1220 1230 1240 1250
LLLADIYIQS AKYDMAEDLL KRCLRHNRSC CKAYEYMGYI MEKEQAYTDA
1260 1270 1280 1290 1300
ALNYEMAWKY SNRTNPAVGY KLAFNYLKAK RYVDSIDICH QVLEAHPTYP
1310
KIRKDILDKA RASLRP
Length:1,316
Mass (Da):150,937
Last modified:November 30, 2010 - v2
Checksum:i2C8505224012736B
GO
Isoform 2 (identifier: Q7Z4L5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     463-482: PASPGQPLCPLLRRCISVLE → VSNYGTYFQGCVYLMFYERT
     483-1316: Missing.

Note: No experimental confirmation available.
Show »
Length:482
Mass (Da):55,527
Checksum:i476B0345F3D8F36C
GO

Sequence cautioni

The sequence AAY14750 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence BAB13836 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti227 – 2271D → N in BAE45724 (PubMed:12880961).Curated
Sequence conflicti669 – 6691D → G in BAB71404 (PubMed:14702039).Curated
Sequence conflicti1187 – 11871N → D in BAB13836 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601F → Y Found in a patient with Meckel-Gruber like syndrome also carrying variant C-671 in BBS7; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs371571631 [ dbSNP | Ensembl ].
VAR_065514
Natural varianti66 – 661K → R.1 Publication
VAR_065515
Natural varianti150 – 1501W → R in NPHP12; with extra-renal features; functionally null mutation in vitro. 1 Publication
VAR_065516
Natural varianti157 – 1571K → E in BBS; hypomorphic variant in vitro; the patient also carries a frame-shift mutation and variant M-501 in BBS12. 1 Publication
VAR_065517
Natural varianti201 – 2011V → M.3 Publications
Corresponds to variant rs1432273 [ dbSNP | Ensembl ].
VAR_032888
Natural varianti209 – 2091P → L in NPHP12; hypomorphic variant in vitro; also found in a patient with Bardet-Biedl syndrome carrying two variants in BBS4. 1 Publication
Corresponds to variant rs140511594 [ dbSNP | Ensembl ].
VAR_065518
Natural varianti222 – 2221Q → 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. 1 Publication
Corresponds to variant rs80026831 [ dbSNP | Ensembl ].
VAR_065519
Natural varianti231 – 2311T → 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. 1 Publication
Corresponds to variant rs149925563 [ dbSNP | Ensembl ].
VAR_065520
Natural varianti242 – 2421D → N.1 Publication
Corresponds to variant rs74447004 [ dbSNP | Ensembl ].
VAR_065521
Natural varianti255 – 2551Y → C in BBS; the patient also carries a frameshift mutation and variant P-34 in BBS10; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs377061787 [ dbSNP | Ensembl ].
VAR_065522
Natural varianti276 – 2761T → A.3 Publications
Corresponds to variant rs7592429 [ dbSNP | Ensembl ].
VAR_032889
Natural varianti280 – 2801M → 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. 1 Publication
Corresponds to variant rs112868646 [ dbSNP | Ensembl ].
VAR_065523
Natural varianti327 – 3271A → S Found in a patient with Meckel-Gruber syndrome also carrying a mutation in CC2D2A; hypomorphic variant in vitro. 1 Publication
VAR_065524
Natural varianti347 – 3471Y → C Found in a patient with Meckel-Gruber syndrome also carrying N-1041 on the same allele; hypomorphic variant in vitro. 1 Publication
VAR_065525
Natural varianti411 – 4111R → G in BBS; the patient also carries a homozygous frameshift mutation in BBS7; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs185089786 [ dbSNP | Ensembl ].
VAR_065526
Natural varianti412 – 4121Q → R.1 Publication
Corresponds to variant rs199873923 [ dbSNP | Ensembl ].
VAR_065527
Natural varianti424 – 4241D → E.1 Publication
Corresponds to variant rs533077805 [ dbSNP | Ensembl ].
VAR_065528
Natural varianti463 – 4631P → S.
Corresponds to variant rs16851307 [ dbSNP | Ensembl ].
VAR_032890
Natural varianti473 – 4731L → F.
Corresponds to variant rs2163649 [ dbSNP | Ensembl ].
VAR_032891
Natural varianti566 – 5661H → R in NPHP12; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs146320075 [ dbSNP | Ensembl ].
VAR_065529
Natural varianti591 – 5911S → N in JBTS11; hypomorphic variant in vitro. 1 Publication
VAR_065530
Natural varianti616 – 6161R → C.1 Publication
Corresponds to variant rs139441507 [ dbSNP | Ensembl ].
VAR_065531
Natural varianti624 – 6241I → V.1 Publication
Corresponds to variant rs77106136 [ dbSNP | Ensembl ].
VAR_065532
Natural varianti645 – 6451H → R.1 Publication
Corresponds to variant rs200291881 [ dbSNP | Ensembl ].
VAR_065533
Natural varianti724 – 7241S → T.1 Publication
Corresponds to variant rs759317777 [ dbSNP | Ensembl ].
VAR_065534
Natural varianti753 – 7531P → 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. 1 Publication
Corresponds to variant rs539769126 [ dbSNP | Ensembl ].
VAR_065535
Natural varianti755 – 7551D → Y in SRTD4; functionally null mutation in vitro. 1 Publication
VAR_065536
Natural varianti795 – 7951L → P in SRTD4; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs387907060 [ dbSNP | Ensembl ].
VAR_065537
Natural varianti844 – 8441M → V Found in a patient with Meckel-Gruber syndrome; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs766811699 [ dbSNP | Ensembl ].
VAR_065538
Natural varianti846 – 8461K → R.
Corresponds to variant rs7595010 [ dbSNP | Ensembl ].
VAR_032892
Natural varianti867 – 8671R → C in JBTS11; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs746700857 [ dbSNP | Ensembl ].
VAR_065539
Natural varianti867 – 8671R → H Found in a patient with Meckel-Gruber syndrome also carrying a homozygous variant in CC2D2A; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs76726265 [ dbSNP | Ensembl ].
VAR_065540
Natural varianti869 – 8691Q → R Found in a patient with Meckel-Gruber like syndrome; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs137926033 [ dbSNP | Ensembl ].
VAR_065541
Natural varianti939 – 9391R → Q Hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs751382210 [ dbSNP | Ensembl ].
VAR_065542
Natural varianti939 – 9391R → W Functionally null mutation in vitro. 1 Publication
Corresponds to variant rs151227843 [ dbSNP | Ensembl ].
VAR_065543
Natural varianti1002 – 10021L → 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. 1 Publication
Corresponds to variant rs146496725 [ dbSNP | Ensembl ].
VAR_065544
Natural varianti1011 – 10111M → T in JBTS11. 1 Publication
Corresponds to variant rs777427926 [ dbSNP | Ensembl ].
VAR_068172
Natural varianti1011 – 10111M → V.1 Publication
Corresponds to variant rs761842893 [ dbSNP | Ensembl ].
VAR_065545
Natural varianti1035 – 10351Y → C.1 Publication
Corresponds to variant rs757541819 [ dbSNP | Ensembl ].
VAR_065546
Natural varianti1041 – 10411D → N Found in a patient with Meckel-Gruber syndrome also carrying C-347 on the same allele; functionally null mutation in vitro. 1 Publication
VAR_065547
Natural varianti1103 – 11031T → R in BBS; the patient also carries two mutations in BBS6; hypomorphic variant in vitro. 1 Publication
VAR_065548
Natural varianti1167 – 11671Y → C in NPHP12; hypomorphic variant in vitro. 1 Publication
VAR_065549
Natural varianti1186 – 11861M → V in JBTS11; hypomorphic variant in vitro. 1 Publication
Corresponds to variant rs376308209 [ dbSNP | Ensembl ].
VAR_065550
Natural varianti1208 – 12081I → S in BBS; the patients also carries two mutations in BBS1; functionally null mutation in vitro. 1 Publication
Corresponds to variant rs189519760 [ dbSNP | Ensembl ].
VAR_065551
Natural varianti1284 – 12841D → H.1 Publication
Corresponds to variant rs139537546 [ dbSNP | Ensembl ].
VAR_065552
Natural varianti1311 – 13111R → G.1 Publication
VAR_065553

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei463 – 48220PASPG…ISVLE → VSNYGTYFQGCVYLMFYERT in isoform 2. 1 PublicationVSP_026306Add
BLAST
Alternative sequencei483 – 1316834Missing in isoform 2. 1 PublicationVSP_026307Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33315.1. [Q7Z4L5-1]
RefSeqiNP_079029.3. NM_024753.4. [Q7Z4L5-1]
UniGeneiHs.310672.

Genome annotation databases

EnsembliENST00000243344; ENSP00000243344; ENSG00000123607. [Q7Z4L5-1]
GeneIDi79809.
KEGGihsa:79809.
UCSCiuc002udk.4. human. [Q7Z4L5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33315.1. [Q7Z4L5-1]
RefSeqiNP_079029.3. NM_024753.4. [Q7Z4L5-1]
UniGeneiHs.310672.

3D structure databases

ProteinModelPortaliQ7Z4L5.
SMRiQ7Z4L5. Positions 308-362, 489-591, 723-820.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122904. 5 interactions.
IntActiQ7Z4L5. 2 interactions.
STRINGi9606.ENSP00000243344.

PTM databases

iPTMnetiQ7Z4L5.
PhosphoSiteiQ7Z4L5.

Polymorphism and mutation databases

BioMutaiTTC21B.
DMDMi313104038.

Proteomic databases

EPDiQ7Z4L5.
MaxQBiQ7Z4L5.
PaxDbiQ7Z4L5.
PeptideAtlasiQ7Z4L5.
PRIDEiQ7Z4L5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243344; ENSP00000243344; ENSG00000123607. [Q7Z4L5-1]
GeneIDi79809.
KEGGihsa:79809.
UCSCiuc002udk.4. human. [Q7Z4L5-1]

Organism-specific databases

CTDi79809.
GeneCardsiTTC21B.
GeneReviewsiTTC21B.
H-InvDBHIX0002562.
HIX0024036.
HGNCiHGNC:25660. TTC21B.
HPAiHPA035494.
HPA035495.
MalaCardsiTTC21B.
MIMi209900. phenotype.
612014. gene.
613819. phenotype.
613820. phenotype.
neXtProtiNX_Q7Z4L5.
Orphaneti93591. Infantile nephronophthisis.
474. Jeune syndrome.
PharmGKBiPA134882767.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEX1. Eukaryota.
ENOG410XV69. LUCA.
GeneTreeiENSGT00390000005979.
HOVERGENiHBG108607.
InParanoidiQ7Z4L5.
KOiK19673.
OMAiVYNMIEI.
OrthoDBiEOG091G00TY.
PhylomeDBiQ7Z4L5.
TreeFamiTF314664.

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.

Miscellaneous databases

ChiTaRSiTTC21B. human.
GenomeRNAii79809.
PROiQ7Z4L5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123607.
CleanExiHS_TTC21B.
ExpressionAtlasiQ7Z4L5. baseline and differential.

Family and domain databases

Gene3Di1.25.40.10. 7 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13181. TPR_8. 3 hits.
[Graphical view]
SMARTiSM00028. TPR. 18 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 5 hits.
PROSITEiPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTT21B_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4L5
Secondary accession number(s): A8MUZ3
, Q3LIE4, Q53T84, Q6P4A1, Q6PIF5, Q8NCN3, Q96MA4, Q9HAK8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: November 30, 2010
Last modified: September 7, 2016
This is version 122 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.