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Q7Z4L5

- TT21B_HUMAN

UniProt

Q7Z4L5 - TT21B_HUMAN

Protein

Tetratricopeptide repeat protein 21B

Gene

TTC21B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    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

    1. cilium morphogenesis Source: Ensembl
    2. intraciliary transport Source: Ensembl
    3. protein localization to cilium Source: MGI
    4. regulation of transcription from RNA polymerase II promoter Source: MGI
    5. smoothened signaling pathway Source: Ensembl

    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
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25660. TTC21B.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme By similarity

    GO - Cellular componenti

    1. cilium Source: UniProtKB-KW
    2. cytoplasm Source: UniProtKB-KW
    3. cytoskeleton Source: UniProtKB-KW
    4. intraciliary transport particle A Source: UniProtKB

    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) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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
    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
    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) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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
    VAR_065537
    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.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    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
    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
    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
    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
    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) [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.2 Publications
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    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
    VAR_065539
    Natural varianti1011 – 10111M → T in JBTS11. 1 Publication
    VAR_068172
    Natural varianti1186 – 11861M → V in JBTS11; hypomorphic variant in vitro. 1 Publication
    VAR_065550

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi209900. phenotype.
    613819. phenotype.
    613820. phenotype.
    Orphaneti93591. Infantile autosomal recessive medullary cystic kidney disease.
    474. Jeune syndrome.
    PharmGKBiPA134882767.

    PTM / Processingi

    Molecule processing

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

    Proteomic databases

    MaxQBiQ7Z4L5.
    PaxDbiQ7Z4L5.
    PRIDEiQ7Z4L5.

    PTM databases

    PhosphoSiteiQ7Z4L5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7Z4L5.
    BgeeiQ7Z4L5.
    CleanExiHS_TTC21B.
    GenevestigatoriQ7Z4L5.

    Organism-specific databases

    HPAiHPA035494.
    HPA035495.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi122904. 2 interactions.
    IntActiQ7Z4L5. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z4L5.
    SMRiQ7Z4L5. Positions 671-696, 725-821, 895-963, 1142-1168.
    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

    eggNOGiNOG82907.
    HOVERGENiHBG108607.
    OMAiVYNMIEI.
    OrthoDBiEOG7TQV01.
    PhylomeDBiQ7Z4L5.
    TreeFamiTF314664.

    Family and domain databases

    Gene3Di1.25.40.10. 7 hits.
    InterProiIPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF00515. TPR_1. 1 hit.
    PF07719. TPR_2. 1 hit.
    PF13174. TPR_6. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 14 hits.
    [Graphical view]
    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. Align

    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

    MDSQELKTLI NYYCQERYFH HVLLVASEGI KRYGSDPVFR FYHAYGTLME     50
    GKTQEALREF EAIKNKQDVS LCSLLALIYA HKMSPNPDRE AILESDARVK 100
    EQRKGAGEKA LYHAGLFLWH IGRHDKAREY IDRMIKISDG SKQGHVLKAW 150
    LDITRGKEPY TKKALKYFEE GLQDGNDTFA LLGKAQCLEM RQNYSGALET 200
    VNQIIVNFPS FLPAFVKKMK LQLALQDWDQ TVETAQRLLL QDSQNVEALR 250
    MQALYYVCRE GDIEKASTKL ENLGNTLDAM EPQNAQLFYN ITLAFSRTCG 300
    RSQLILQKIQ TLLERAFSLN PQQSEFATEL GYQMILQGRV KEALKWYKTA 350
    MTLDETSVSA LVGFIQCQLI EGQLQDADQQ LEFLNEIQQS IGKSAELIYL 400
    HAVLAMKKNK RQEEVINLLN DVLDTHFSQL EGLPLGIQYF EKLNPDFLLE 450
    IVMEYLSFCP MQPASPGQPL CPLLRRCISV LETVVRTVPG LLQTVFLIAK 500
    VKYLSGDIEA AFNNLQHCLE HNPSYADAHL LLAQVYLSQE KVKLCSQSLE 550
    LCLSYDFKVR DYPLYHLIKA QSQKKMGEIA DAIKTLHMAM SLPGMKRIGA 600
    STKSKDRKTE VDTSHRLSIF LELIDVHRLN GEQHEATKVL QDAIHEFSGT 650
    SEEVRVTIAN ADLALAQGDI ERALSILQNV TAEQPYFIEA REKMADIYLK 700
    HRKDKMLYIT CFREIAERMA NPRSFLLLGD AYMNILEPEE AIVAYEQALN 750
    QNPKDGTLAS KMGKALIKTH NYSMAITYYE AALKTGQKNY LCYDLAELLL 800
    KLKWYDKAEK VLQHALAHEP VNELSALMED GRCQVLLAKV YSKMEKLGDA 850
    ITALQQAREL QARVLKRVQM EQPDAVPAQK HLAAEICAEI AKHSVAQRDY 900
    EKAIKFYREA LVHCETDNKI MLELARLYLA QDDPDSCLRQ CALLLQSDQD 950
    NEAATMMMAD LMFRKQDYEQ AVFHLQQLLE RKPDNYMTLS RLIDLLRRCG 1000
    KLEDVPRFFS MAEKRNSRAK LEPGFQYCKG LYLWYTGEPN DALRHFNKAR 1050
    KDRDWGQNAL YNMIEICLNP DNETVGGEVF ENLDGDLGNS TEKQESVQLA 1100
    VRTAEKLLKE LKPQTVQGHV QLRIMENYCL MATKQKSNVE QALNTFTEIA 1150
    ASEKEHIPAL LGMATAYMIL KQTPRARNQL KRIAKMNWNA IDAEEFEKSW 1200
    LLLADIYIQS AKYDMAEDLL KRCLRHNRSC CKAYEYMGYI MEKEQAYTDA 1250
    ALNYEMAWKY SNRTNPAVGY KLAFNYLKAK RYVDSIDICH QVLEAHPTYP 1300
    KIRKDILDKA RASLRP 1316
    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 BAB13836.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAY14750.1 differs from that shown. Reason: Erroneous gene model prediction.

    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
    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
    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
    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
    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
    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
    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
    VAR_065537
    Natural varianti844 – 8441M → V Found in a patient with Meckel-Gruber syndrome; functionally null mutation in vitro. 1 Publication
    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
    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
    VAR_065541
    Natural varianti939 – 9391R → Q Hypomorphic variant in vitro. 1 Publication
    VAR_065542
    Natural varianti939 – 9391R → W Functionally null mutation in vitro. 1 Publication
    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
    VAR_068172
    Natural varianti1011 – 10111M → V.1 Publication
    VAR_065545
    Natural varianti1035 – 10351Y → C.1 Publication
    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
    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:
    EMBL
    GenBank
    DDBJ
    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.3. human. [Q7Z4L5-1]
    uc002udl.3. human. [Q7Z4L5-2]

    Polymorphism databases

    DMDMi313104038.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS33315.1. [Q7Z4L5-1 ]
    RefSeqi NP_079029.3. NM_024753.4. [Q7Z4L5-1 ]
    UniGenei Hs.310672.

    3D structure databases

    ProteinModelPortali Q7Z4L5.
    SMRi Q7Z4L5. Positions 671-696, 725-821, 895-963, 1142-1168.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122904. 2 interactions.
    IntActi Q7Z4L5. 2 interactions.

    PTM databases

    PhosphoSitei Q7Z4L5.

    Polymorphism databases

    DMDMi 313104038.

    Proteomic databases

    MaxQBi Q7Z4L5.
    PaxDbi Q7Z4L5.
    PRIDEi Q7Z4L5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243344 ; ENSP00000243344 ; ENSG00000123607 . [Q7Z4L5-1 ]
    GeneIDi 79809.
    KEGGi hsa:79809.
    UCSCi uc002udk.3. human. [Q7Z4L5-1 ]
    uc002udl.3. human. [Q7Z4L5-2 ]

    Organism-specific databases

    CTDi 79809.
    GeneCardsi GC02M166713.
    GeneReviewsi TTC21B.
    H-InvDB HIX0002562.
    HIX0024036.
    HGNCi HGNC:25660. TTC21B.
    HPAi HPA035494.
    HPA035495.
    MIMi 209900. phenotype.
    612014. gene.
    613819. phenotype.
    613820. phenotype.
    neXtProti NX_Q7Z4L5.
    Orphaneti 93591. Infantile autosomal recessive medullary cystic kidney disease.
    474. Jeune syndrome.
    PharmGKBi PA134882767.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82907.
    HOVERGENi HBG108607.
    OMAi VYNMIEI.
    OrthoDBi EOG7TQV01.
    PhylomeDBi Q7Z4L5.
    TreeFami TF314664.

    Miscellaneous databases

    ChiTaRSi TTC21B. human.
    GenomeRNAii 79809.
    NextBioi 69392.
    PROi Q7Z4L5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z4L5.
    Bgeei Q7Z4L5.
    CleanExi HS_TTC21B.
    Genevestigatori Q7Z4L5.

    Family and domain databases

    Gene3Di 1.25.40.10. 7 hits.
    InterProi IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF00515. TPR_1. 1 hit.
    PF07719. TPR_2. 1 hit.
    PF13174. TPR_6. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 14 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 10 hits.
    PS50293. TPR_REGION. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. Cited for: VARIANT JBTS11 THR-1011.

    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: October 1, 2014
    This is version 102 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

    External Data

    Dasty 3