TM107_HUMAN
ID TM107_HUMAN Reviewed; 140 AA.
AC Q6UX40; A0PJV7; Q6NSE3; Q6ZRX9; Q96T82;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Transmembrane protein 107 {ECO:0000312|HGNC:HGNC:28128};
GN Name=TMEM107 {ECO:0000312|HGNC:HGNC:28128}; ORFNames=DC20, UNQ638/PRO1268;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Dendritic cell;
RA Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.;
RT "A novel gene from human dendritic cells.";
RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INVOLVEMENT IN MKS13.
RX PubMed=26123494; DOI=10.1093/hmg/ddv242;
RA Shaheen R., Almoisheer A., Faqeih E., Babay Z., Monies D., Tassan N.,
RA Abouelhoda M., Kurdi W., Al Mardawi E., Khalil M.M., Seidahmed M.Z.,
RA Alnemer M., Alsahan N., Sogaty S., Alhashem A., Singh A., Goyal M.,
RA Kapoor S., Alomar R., Ibrahim N., Alkuraya F.S.;
RT "Identification of a novel MKS locus defined by TMEM107 mutation.";
RL Hum. Mol. Genet. 24:5211-5218(2015).
RN [7]
RP VARIANT OFD16 PHE-100 DEL, CHARACTERIZATION OF VARIANT OFD16 PHE-100 DEL,
RP AND FUNCTION.
RX PubMed=26518474; DOI=10.1002/humu.22925;
RA Shylo N.A., Christopher K.J., Iglesias A., Daluiski A., Weatherbee S.D.;
RT "TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is
RT Mutated in Orofaciodigital Syndrome.";
RL Hum. Mutat. 37:155-159(2016).
RN [8]
RP SUBCELLULAR LOCATION, INVOLVEMENT IN OFD16, VARIANTS OFD16 GLY-45 AND
RP GLU-106 DEL, CHARACTERIZATION OF VARIANT OFD16 GLY-45, VARIANT MKS13
RP PHE-100 DEL, INTERACTION WITH TMEM237; TMEM231; MKS1 AND TMEM216, AND
RP IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX.
RX PubMed=26595381; DOI=10.1038/ncb3273;
RA Lambacher N.J., Bruel A.L., van Dam T.J., Szymanska K., Slaats G.G.,
RA Kuhns S., McManus G.J., Kennedy J.E., Gaff K., Wu K.M., van der Lee R.,
RA Burglen L., Doummar D., Riviere J.B., Faivre L., Attie-Bitach T.,
RA Saunier S., Curd A., Peckham M., Giles R.H., Johnson C.A., Huynen M.A.,
RA Thauvin-Robinet C., Blacque O.E.;
RT "TMEM107 recruits ciliopathy proteins to subdomains of the ciliary
RT transition zone and causes Joubert syndrome.";
RL Nat. Cell Biol. 18:122-131(2016).
CC -!- FUNCTION: Plays a role in cilia formation and embryonic patterning.
CC Requires for normal Sonic hedgehog (Shh) signaling in the neural tube
CC and acts in combination with GLI2 and GLI3 to pattern ventral and
CC intermediate neuronal cell types (By similarity). During ciliogenesis
CC regulates the ciliary transition zone localization of some MKS complex
CC proteins (PubMed:26518474). {ECO:0000250|UniProtKB:Q9CPV0,
CC ECO:0000269|PubMed:26518474}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC Interacts with TMEM237, TMEM231, MKS1 and TMEM216.
CC {ECO:0000269|PubMed:26595381}.
CC -!- INTERACTION:
CC Q6UX40; Q92482: AQP3; NbExp=3; IntAct=EBI-12845616, EBI-2808854;
CC Q6UX40; Q13520: AQP6; NbExp=3; IntAct=EBI-12845616, EBI-13059134;
CC Q6UX40; Q13323: BIK; NbExp=3; IntAct=EBI-12845616, EBI-700794;
CC Q6UX40; O00585: CCL21; NbExp=3; IntAct=EBI-12845616, EBI-953695;
CC Q6UX40; P25942: CD40; NbExp=3; IntAct=EBI-12845616, EBI-525714;
CC Q6UX40; P11912: CD79A; NbExp=3; IntAct=EBI-12845616, EBI-7797864;
CC Q6UX40; Q9BQT9: CLSTN3; NbExp=3; IntAct=EBI-12845616, EBI-11291074;
CC Q6UX40; O00559: EBAG9; NbExp=3; IntAct=EBI-12845616, EBI-8787095;
CC Q6UX40; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12845616, EBI-781551;
CC Q6UX40; P34910-2: EVI2B; NbExp=3; IntAct=EBI-12845616, EBI-17640610;
CC Q6UX40; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-12845616, EBI-18304435;
CC Q6UX40; Q96KR6: FAM210B; NbExp=3; IntAct=EBI-12845616, EBI-18938272;
CC Q6UX40; P36382: GJA5; NbExp=3; IntAct=EBI-12845616, EBI-750433;
CC Q6UX40; P48165: GJA8; NbExp=3; IntAct=EBI-12845616, EBI-17458373;
CC Q6UX40; Q8TED1: GPX8; NbExp=3; IntAct=EBI-12845616, EBI-11721746;
CC Q6UX40; P22460: KCNA5; NbExp=3; IntAct=EBI-12845616, EBI-6426121;
CC Q6UX40; P48051: KCNJ6; NbExp=3; IntAct=EBI-12845616, EBI-12017638;
CC Q6UX40; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-12845616, EBI-2820517;
CC Q6UX40; O14880: MGST3; NbExp=3; IntAct=EBI-12845616, EBI-724754;
CC Q6UX40; Q9NXB0: MKS1; NbExp=2; IntAct=EBI-12845616, EBI-719269;
CC Q6UX40; Q96HJ5: MS4A3; NbExp=3; IntAct=EBI-12845616, EBI-12806656;
CC Q6UX40; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-12845616, EBI-716063;
CC Q6UX40; O15173: PGRMC2; NbExp=3; IntAct=EBI-12845616, EBI-1050125;
CC Q6UX40; P57054: PIGP; NbExp=3; IntAct=EBI-12845616, EBI-17630288;
CC Q6UX40; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-12845616, EBI-3920694;
CC Q6UX40; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-12845616, EBI-18159983;
CC Q6UX40; Q9BRI3: SLC30A2; NbExp=3; IntAct=EBI-12845616, EBI-8644112;
CC Q6UX40; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-12845616, EBI-17295964;
CC Q6UX40; Q9NP94: SLC39A2; NbExp=3; IntAct=EBI-12845616, EBI-12898013;
CC Q6UX40; Q8N9I0: SYT2; NbExp=3; IntAct=EBI-12845616, EBI-8032987;
CC Q6UX40; Q8WY91: THAP4; NbExp=3; IntAct=EBI-12845616, EBI-726691;
CC Q6UX40; Q96A25: TMEM106A; NbExp=3; IntAct=EBI-12845616, EBI-3915978;
CC Q6UX40; Q8IV31: TMEM139; NbExp=3; IntAct=EBI-12845616, EBI-7238458;
CC Q6UX40; Q9NRX6: TMEM167B; NbExp=3; IntAct=EBI-12845616, EBI-17684533;
CC Q6UX40; Q8WY98: TMEM234; NbExp=3; IntAct=EBI-12845616, EBI-8642211;
CC Q6UX40; Q96Q45-2: TMEM237; NbExp=3; IntAct=EBI-12845616, EBI-10982110;
CC Q6UX40; Q9NW97: TMEM51; NbExp=3; IntAct=EBI-12845616, EBI-726044;
CC Q6UX40; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-12845616, EBI-18178701;
CC Q6UX40; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-12845616, EBI-11742770;
CC Q6UX40; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-12845616, EBI-2548832;
CC Q6UX40; Q3ZAQ7: VMA21; NbExp=3; IntAct=EBI-12845616, EBI-1055364;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000269|PubMed:26595381}. Note=Localizes at the transition zone, a
CC region between the basal body and the ciliary axoneme.
CC {ECO:0000269|PubMed:26595381}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6UX40-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UX40-2; Sequence=VSP_021210, VSP_021211;
CC Name=3;
CC IsoId=Q6UX40-3; Sequence=VSP_021212, VSP_021213;
CC Name=4;
CC IsoId=Q6UX40-4; Sequence=VSP_021212;
CC -!- DISEASE: Meckel syndrome 13 (MKS13) [MIM:617562]: A form of Meckel
CC syndrome, a disorder characterized by a combination of renal cysts and
CC variably associated features including developmental anomalies of the
CC central nervous system (typically encephalocele), hepatic ductal
CC dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:26123494,
CC ECO:0000269|PubMed:26595381}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Orofaciodigital syndrome 16 (OFD16) [MIM:617563]: A form of
CC orofaciodigital syndrome, a group of heterogeneous disorders
CC characterized by malformations of the oral cavity, face and digits, and
CC associated phenotypic abnormalities that lead to the delineation of
CC various subtypes. OFD16 features include postaxial polydactyly of the
CC hands and feet, multiple tongue cysts, and dysmorphic features,
CC including frontal narrowing, short palpebral fissures, flat nasal
CC bridge, retrognathia, and low-set ears. Neurologic features include
CC delayed psychomotor development and severe cognitive impairment. OFD16
CC inheritance is autosomal recessive. {ECO:0000269|PubMed:26518474,
CC ECO:0000269|PubMed:26595381}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK38512.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF311338; AAK38512.1; ALT_FRAME; mRNA.
DR EMBL; AY358525; AAQ88889.1; -; mRNA.
DR EMBL; AK127891; BAC87177.1; -; mRNA.
DR EMBL; AC129492; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC070231; AAH70231.1; -; mRNA.
DR EMBL; BC127649; AAI27650.1; -; mRNA.
DR CCDS; CCDS11132.1; -. [Q6UX40-4]
DR CCDS; CCDS45607.1; -. [Q6UX40-1]
DR CCDS; CCDS86572.1; -. [Q6UX40-3]
DR RefSeq; NP_115730.2; NM_032354.3. [Q6UX40-4]
DR RefSeq; NP_898888.1; NM_183065.2. [Q6UX40-1]
DR AlphaFoldDB; Q6UX40; -.
DR BioGRID; 124040; 49.
DR DIP; DIP-61993N; -.
DR IntAct; Q6UX40; 46.
DR STRING; 9606.ENSP00000314116; -.
DR GlyGen; Q6UX40; 1 site.
DR BioMuta; TMEM107; -.
DR DMDM; 74738174; -.
DR MassIVE; Q6UX40; -.
DR PaxDb; Q6UX40; -.
DR PeptideAtlas; Q6UX40; -.
DR PRIDE; Q6UX40; -.
DR TopDownProteomics; Q6UX40-4; -. [Q6UX40-4]
DR Antibodypedia; 42946; 50 antibodies from 18 providers.
DR DNASU; 84314; -.
DR Ensembl; ENST00000316425.9; ENSP00000314116.5; ENSG00000179029.15. [Q6UX40-4]
DR Ensembl; ENST00000437139.7; ENSP00000402732.2; ENSG00000179029.15. [Q6UX40-1]
DR Ensembl; ENST00000533070.5; ENSP00000436674.1; ENSG00000179029.15. [Q6UX40-3]
DR GeneID; 84314; -.
DR KEGG; hsa:84314; -.
DR MANE-Select; ENST00000437139.7; ENSP00000402732.2; NM_183065.4; NP_898888.1.
DR UCSC; uc002gkg.5; human. [Q6UX40-1]
DR CTD; 84314; -.
DR DisGeNET; 84314; -.
DR GeneCards; TMEM107; -.
DR GeneReviews; TMEM107; -.
DR HGNC; HGNC:28128; TMEM107.
DR HPA; ENSG00000179029; Low tissue specificity.
DR MalaCards; TMEM107; -.
DR MIM; 616183; gene.
DR MIM; 617562; phenotype.
DR MIM; 617563; phenotype.
DR neXtProt; NX_Q6UX40; -.
DR OpenTargets; ENSG00000179029; -.
DR Orphanet; 564; Meckel syndrome.
DR PharmGKB; PA142670758; -.
DR VEuPathDB; HostDB:ENSG00000179029; -.
DR eggNOG; ENOG502RZG7; Eukaryota.
DR GeneTree; ENSGT00390000014827; -.
DR HOGENOM; CLU_127745_0_0_1; -.
DR InParanoid; Q6UX40; -.
DR OMA; ERWECTM; -.
DR OrthoDB; 1508335at2759; -.
DR PhylomeDB; Q6UX40; -.
DR TreeFam; TF328441; -.
DR PathwayCommons; Q6UX40; -.
DR SignaLink; Q6UX40; -.
DR BioGRID-ORCS; 84314; 16 hits in 1084 CRISPR screens.
DR ChiTaRS; TMEM107; human.
DR GenomeRNAi; 84314; -.
DR Pharos; Q6UX40; Tbio.
DR PRO; PR:Q6UX40; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6UX40; protein.
DR Bgee; ENSG00000179029; Expressed in bronchial epithelial cell and 173 other tissues.
DR ExpressionAtlas; Q6UX40; baseline and differential.
DR Genevisible; Q6UX40; HS.
DR GO; GO:0035869; C:ciliary transition zone; IDA:WormBase.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0036038; C:MKS complex; IDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IDA:UniProtKB.
DR GO; GO:0097094; P:craniofacial suture morphogenesis; IEA:Ensembl.
DR GO; GO:0003127; P:detection of nodal flow; IEA:Ensembl.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0021532; P:neural tube patterning; IEA:Ensembl.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:WormBase.
DR GO; GO:1904491; P:protein localization to ciliary transition zone; IBA:GO_Central.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR InterPro; IPR029248; TMEM107.
DR PANTHER; PTHR34341; PTHR34341; 1.
DR Pfam; PF14995; TMEM107; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Developmental protein; Disease variant;
KW Glycoprotein; Meckel syndrome; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..140
FT /note="Transmembrane protein 107"
FT /id="PRO_0000254541"
FT TRANSMEM 7..27
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 53..73
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..133
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 79
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 30
FT /note="D -> VRPTAALNPSPFPSLSGPSPTLPPPSVLPSWVFLFPAAPRPALQPAP
FT FSLLSAGWWPRSLSPWASLQWSWPVSSQESPCSTAPRASSVSFLPAHLSHTTHFYQDSL
FT QPPDTIVSAVANPSSSKIFNDVLNPAVY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021210"
FT VAR_SEQ 31..140
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021211"
FT VAR_SEQ 52
FT /note="Q -> HPLPLCR (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_021212"
FT VAR_SEQ 111..118
FT /note="WYIFVFCS -> C (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021213"
FT VARIANT 45
FT /note="E -> G (in OFD16; does not affect subcellular
FT location at ciliary transition zone; dbSNP:rs1555526172)"
FT /evidence="ECO:0000269|PubMed:26595381"
FT /id="VAR_079328"
FT VARIANT 100
FT /note="Missing (in MKS13 and OFD16; does not affect
FT subcellular location at ciliary transition zone;
FT significantly decreases cilium assembly from patient's skin
FT primary fibroblast; impairs protein localization to cilium
FT from patient's skin primary fibroblast; dbSNP:rs752171066)"
FT /evidence="ECO:0000269|PubMed:26518474,
FT ECO:0000269|PubMed:26595381"
FT /id="VAR_079329"
SQ SEQUENCE 140 AA; 15503 MW; B2ED164C9F379EDD CRC64;
MGRVSGLVPS RFLTLLAHLV VVITLFWSRD SNIQACLPLT FTPEEYDKQD IQLVAALSVT
LGLFAVELAG FLSGVSMFNS TQSLISIGAH CSASVALSFF IFERWECTTY WYIFVFCSAL
PAVTEMALFV TVFGLKKKPF
