TM138_HUMAN
ID TM138_HUMAN Reviewed; 162 AA.
AC Q9NPI0; A6NGA7; B4E044; Q5JPE1;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Transmembrane protein 138;
GN Name=TMEM138; ORFNames=HSPC196, HSPC198;
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 3).
RC TISSUE=Thymus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Urinary bladder;
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 VARIANTS JBTS16 ARG-96; THR-126; VAL-127 AND CYS-130, FUNCTION, AND
RP SUBCELLULAR LOCATION.
RX PubMed=22282472; DOI=10.1126/science.1213506;
RA Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E.,
RA Bielas S.L., Hill K.J., Iannicelli M., Brancati F., Gabriel S.B., Russ C.,
RA Logan C.V., Sharif S.M., Bennett C.P., Abe M., Hildebrandt F., Diplas B.H.,
RA Attie-Bitach T., Katsanis N., Rajab A., Koul R., Sztriha L., Waters E.R.,
RA Ferro-Novick S., Woods G.C., Johnson C.A., Valente E.M., Zaki M.S.,
RA Gleeson J.G.;
RT "Evolutionarily assembled cis-regulatory module at a human ciliopathy
RT locus.";
RL Science 335:966-969(2012).
CC -!- FUNCTION: Required for ciliogenesis. {ECO:0000269|PubMed:22282472}.
CC -!- SUBCELLULAR LOCATION: Vacuole membrane {ECO:0000269|PubMed:22282472};
CC Multi-pass membrane protein {ECO:0000269|PubMed:22282472}. Cell
CC projection, cilium {ECO:0000269|PubMed:22282472}. Note=Localizes to
CC vesicles en route to the base of cilium.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NPI0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NPI0-2; Sequence=VSP_024891, VSP_024892;
CC Name=3;
CC IsoId=Q9NPI0-3; Sequence=VSP_042588;
CC -!- DISEASE: Joubert syndrome 16 (JBTS16) [MIM:614465]: An autosomal
CC recessive disorder characterized by oculomotor apraxia, variable
CC coloboma, and rare kidney involvement. Neuroradiologically, it is
CC characterized by an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy and polydactyly.
CC {ECO:0000269|PubMed:22282472}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: TMEM138 and TMEM216 genes are adjacent and are aligned
CC in a head-to-tail configuration. They share some cis regulatory region
CC and display coordinated expression. Genes were joined by chromosomal
CC rearrangement at the amphiboan to reptile evolutionary transition
CC around 340 million years ago (PubMed:22282472).
CC {ECO:0000305|PubMed:22282472}.
CC -!- SIMILARITY: Belongs to the TMEM138 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAI46174.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK303219; BAG64306.1; -; mRNA.
DR EMBL; AF151030; AAF36116.1; -; mRNA.
DR EMBL; AF151032; AAF36118.1; -; mRNA.
DR EMBL; AL832879; CAI46174.1; ALT_FRAME; Transcribed_RNA.
DR EMBL; AP003108; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005201; AAH05201.1; -; mRNA.
DR CCDS; CCDS8005.1; -. [Q9NPI0-1]
DR RefSeq; NP_057548.1; NM_016464.4. [Q9NPI0-1]
DR RefSeq; XP_006718648.1; XM_006718585.3. [Q9NPI0-3]
DR AlphaFoldDB; Q9NPI0; -.
DR SMR; Q9NPI0; -.
DR BioGRID; 119587; 4.
DR IntAct; Q9NPI0; 1.
DR STRING; 9606.ENSP00000278826; -.
DR GlyGen; Q9NPI0; 1 site.
DR iPTMnet; Q9NPI0; -.
DR PhosphoSitePlus; Q9NPI0; -.
DR BioMuta; TMEM138; -.
DR DMDM; 74734306; -.
DR EPD; Q9NPI0; -.
DR jPOST; Q9NPI0; -.
DR MassIVE; Q9NPI0; -.
DR MaxQB; Q9NPI0; -.
DR PaxDb; Q9NPI0; -.
DR PeptideAtlas; Q9NPI0; -.
DR PRIDE; Q9NPI0; -.
DR ProteomicsDB; 82014; -. [Q9NPI0-1]
DR Antibodypedia; 28203; 30 antibodies from 14 providers.
DR DNASU; 51524; -.
DR Ensembl; ENST00000278826.11; ENSP00000278826.5; ENSG00000149483.13. [Q9NPI0-1]
DR Ensembl; ENST00000542946.2; ENSP00000445792.1; ENSG00000149483.13. [Q9NPI0-2]
DR Ensembl; ENST00000689076.1; ENSP00000508469.1; ENSG00000149483.13. [Q9NPI0-2]
DR Ensembl; ENST00000692219.1; ENSP00000510149.1; ENSG00000149483.13. [Q9NPI0-1]
DR Ensembl; ENST00000692785.1; ENSP00000509310.1; ENSG00000149483.13. [Q9NPI0-3]
DR GeneID; 51524; -.
DR KEGG; hsa:51524; -.
DR MANE-Select; ENST00000278826.11; ENSP00000278826.5; NM_016464.5; NP_057548.1.
DR UCSC; uc001nrl.3; human. [Q9NPI0-1]
DR CTD; 51524; -.
DR DisGeNET; 51524; -.
DR GeneCards; TMEM138; -.
DR GeneReviews; TMEM138; -.
DR HGNC; HGNC:26944; TMEM138.
DR HPA; ENSG00000149483; Low tissue specificity.
DR MalaCards; TMEM138; -.
DR MIM; 614459; gene.
DR MIM; 614465; phenotype.
DR neXtProt; NX_Q9NPI0; -.
DR OpenTargets; ENSG00000149483; -.
DR Orphanet; 2318; Joubert syndrome with oculorenal defect.
DR PharmGKB; PA144596259; -.
DR VEuPathDB; HostDB:ENSG00000149483; -.
DR eggNOG; ENOG502RWE6; Eukaryota.
DR GeneTree; ENSGT00390000018587; -.
DR HOGENOM; CLU_104681_0_0_1; -.
DR InParanoid; Q9NPI0; -.
DR OMA; RYTYLLM; -.
DR OrthoDB; 1480637at2759; -.
DR PhylomeDB; Q9NPI0; -.
DR TreeFam; TF315159; -.
DR PathwayCommons; Q9NPI0; -.
DR SignaLink; Q9NPI0; -.
DR BioGRID-ORCS; 51524; 10 hits in 1078 CRISPR screens.
DR ChiTaRS; TMEM138; human.
DR GeneWiki; TMEM138; -.
DR GenomeRNAi; 51524; -.
DR Pharos; Q9NPI0; Tdark.
DR PRO; PR:Q9NPI0; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NPI0; protein.
DR Bgee; ENSG00000149483; Expressed in right adrenal gland and 167 other tissues.
DR ExpressionAtlas; Q9NPI0; baseline and differential.
DR Genevisible; Q9NPI0; HS.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005774; C:vacuolar membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR InterPro; IPR024133; TM_138.
DR PANTHER; PTHR13306; PTHR13306; 1.
DR Pfam; PF14935; TMEM138; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Disease variant; Glycoprotein;
KW Joubert syndrome; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Vacuole.
FT CHAIN 1..162
FT /note="Transmembrane protein 138"
FT /id="PRO_0000285700"
FT TRANSMEM 7..27
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 41..61
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 80..100
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 6
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 101
FT /note="N -> VRVAV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_024891"
FT VAR_SEQ 102..162
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_024892"
FT VAR_SEQ 126..162
FT /note="AAVLYCYFYKRTAVRLGDPHFYQDSLWLRKEFMQVRR -> GKDQSKVRPLS
FT GPTCVSFSEGLDAGFPDLSQLAWDGCDSHTRNRRDYCPCPC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042588"
FT VARIANT 96
FT /note="H -> R (in JBTS16; dbSNP:rs387907132)"
FT /evidence="ECO:0000269|PubMed:22282472"
FT /id="VAR_067059"
FT VARIANT 126
FT /note="A -> T (in JBTS16; dbSNP:rs387907134)"
FT /evidence="ECO:0000269|PubMed:22282472"
FT /id="VAR_067060"
FT VARIANT 127
FT /note="A -> V (in JBTS16; dbSNP:rs387907133)"
FT /evidence="ECO:0000269|PubMed:22282472"
FT /id="VAR_067061"
FT VARIANT 130
FT /note="Y -> C (in JBTS16; dbSNP:rs387907135)"
FT /evidence="ECO:0000269|PubMed:22282472"
FT /id="VAR_067062"
SQ SEQUENCE 162 AA; 19262 MW; 31D76DD5C95333DE CRC64;
MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL FNIIIIFLMF
FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM NLRWKNSNSF IWTDGLQMLF
VFQRLAAVLY CYFYKRTAVR LGDPHFYQDS LWLRKEFMQV RR
