ID   C9JHI2_HUMAN            Unreviewed;       180 AA.
AC   C9JHI2;
DT   03-NOV-2009, integrated into UniProtKB/TrEMBL.
DT   03-NOV-2009, sequence version 1.
DT   16-JAN-2019, entry version 57.
DE   SubName: Full=Meckelin {ECO:0000313|Ensembl:ENSP00000403035};
DE   Flags: Fragment;
GN   Name=TMEM67 {ECO:0000313|Ensembl:ENSP00000403035};
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:ENSP00000403035, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000403035, 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:ENSP00000403035}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (JUL-2011) to UniProtKB.
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DR   EMBL; AC010834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   ProteinModelPortal; C9JHI2; -.
DR   jPOST; C9JHI2; -.
DR   MaxQB; C9JHI2; -.
DR   PeptideAtlas; C9JHI2; -.
DR   PRIDE; C9JHI2; -.
DR   Ensembl; ENST00000453906; ENSP00000403035; ENSG00000164953.
DR   UCSC; uc064oow.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   HOGENOM; HOG000185920; -.
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; C9JHI2; 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; 2.
DR   Pfam; PF09773; Meckelin; 1.
DR   SUPFAM; SSF57184; SSF57184; 1.
PE   1: Evidence at protein level;
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Proteomics identification {ECO:0000213|MaxQB:C9JHI2,
KW   ECO:0000213|PeptideAtlas:C9JHI2};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Signal {ECO:0000256|SAM:SignalP}.
FT   SIGNAL        1     36       {ECO:0000256|SAM:SignalP}.
FT   CHAIN        37    180       {ECO:0000256|SAM:SignalP}.
FT                                /FTId=PRO_5002996553.
FT   NON_TER     180    180       {ECO:0000313|Ensembl:ENSP00000403035}.
SQ   SEQUENCE   180 AA;  19509 MW;  80110DE656ABB519 CRC64;
     MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL
     SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD
     LTAEGKCHCP IGHILDSNSG KWLLTRRIFL VDAVSGREND LGTQPRVIRV ATQISLSVHL
//