ID   E5RH38_HUMAN            Unreviewed;       119 AA.
AC   E5RH38;
DT   08-FEB-2011, integrated into UniProtKB/TrEMBL.
DT   08-FEB-2011, sequence version 1.
DT   12-SEP-2018, entry version 48.
DE   SubName: Full=Meckelin {ECO:0000313|Ensembl:ENSP00000429925};
GN   Name=TMEM67 {ECO:0000313|Ensembl:ENSP00000429925};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000429925, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000429925, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA   Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA   Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA   Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA   Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA   DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Glockner G.,
RA   Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA   Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA   O'Leary S.B., O'Neill K., Parker S.C., Polley A., Raymond C.K.,
RA   Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA   Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA   Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA   Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA   Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [2] {ECO:0000313|Ensembl:ENSP00000429925}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (JUL-2011) to UniProtKB.
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DR   EMBL; AC010834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   ProteinModelPortal; E5RH38; -.
DR   PeptideAtlas; E5RH38; -.
DR   PRIDE; E5RH38; -.
DR   Ensembl; ENST00000521222; ENSP00000429925; ENSG00000164953.
DR   UCSC; uc064ooz.1; human.
DR   EuPathDB; HostDB:ENSG00000164953.15; -.
DR   HGNC; HGNC:28396; TMEM67.
DR   OpenTargets; ENSG00000164953; -.
DR   eggNOG; KOG4611; Eukaryota.
DR   eggNOG; ENOG410XQCG; LUCA.
DR   GeneTree; ENSGT00390000010606; -.
DR   ChiTaRS; TMEM67; human.
DR   Proteomes; UP000005640; Chromosome 8.
DR   Bgee; ENSG00000164953; Expressed in 154 organ(s), highest expression level in buccal mucosa cell.
DR   ExpressionAtlas; E5RH38; baseline and differential.
DR   GO; GO:0036038; C:MKS complex; IEA:InterPro.
DR   GO; GO:0060271; P:cilium assembly; IEA:InterPro.
DR   GO; GO:0010826; P:negative regulation of centrosome duplication; IEA:InterPro.
DR   InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR   InterPro; IPR019170; Meckelin.
DR   PANTHER; PTHR21274; PTHR21274; 1.
DR   SUPFAM; SSF57184; SSF57184; 1.
PE   1: Evidence at protein level;
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Proteomics identification {ECO:0000213|PeptideAtlas:E5RH38};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Signal {ECO:0000256|SAM:SignalP}.
FT   SIGNAL        1     36       {ECO:0000256|SAM:SignalP}.
FT   CHAIN        37    119       {ECO:0000256|SAM:SignalP}.
FT                                /FTId=PRO_5003196865.
SQ   SEQUENCE   119 AA;  12785 MW;  A05C2D01BBF345C1 CRC64;
     MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL
     SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMVLQKMA GTAFLALVT
//