ID F8WCQ6_HUMAN Unreviewed; 147 AA. AC F8WCQ6; DT 21-SEP-2011, integrated into UniProtKB/TrEMBL. DT 21-SEP-2011, sequence version 1. DT 12-SEP-2018, entry version 54. DE SubName: Full=Meckelin {ECO:0000313|Ensembl:ENSP00000416339}; GN Name=TMEM67 {ECO:0000313|Ensembl:ENSP00000416339}; 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:ENSP00000416339, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000416339, 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:ENSP00000416339} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC010834; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; F8WCQ6; -. DR MaxQB; F8WCQ6; -. DR PeptideAtlas; F8WCQ6; -. DR PRIDE; F8WCQ6; -. DR Ensembl; ENST00000455946; ENSP00000416339; ENSG00000164953. DR UCSC; uc064opa.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; F8WCQ6; 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|MaxQB:F8WCQ6, KW ECO:0000213|PeptideAtlas:F8WCQ6}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 36 {ECO:0000256|SAM:SignalP}. FT CHAIN 37 147 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003379671. SQ SEQUENCE 147 AA; 15703 MW; C20C0E533703B411 CRC64; MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILGSHSC PGWSVVV //