ID H0YC18_HUMAN Unreviewed; 173 AA. AC H0YC18; DT 22-FEB-2012, integrated into UniProtKB/TrEMBL. DT 22-FEB-2012, sequence version 1. DT 12-SEP-2018, entry version 43. DE SubName: Full=Meckelin {ECO:0000313|Ensembl:ENSP00000430740}; DE Flags: Fragment; GN Name=TMEM67 {ECO:0000313|Ensembl:ENSP00000430740}; 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:ENSP00000430740, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000430740, 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:ENSP00000430740} RP IDENTIFICATION. RG Ensembl; RL Submitted (JAN-2012) 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; H0YC18; -. DR MaxQB; H0YC18; -. DR PeptideAtlas; H0YC18; -. DR PRIDE; H0YC18; -. DR Ensembl; ENST00000521517; ENSP00000430740; ENSG00000164953. DR UCSC; uc064opd.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; H0YC18; 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:H0YC18, KW ECO:0000213|PeptideAtlas:H0YC18}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 34 {ECO:0000256|SAM:SignalP}. FT CHAIN 35 173 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003545873. FT NON_TER 1 1 {ECO:0000313|Ensembl:ENSP00000430740}. FT NON_TER 173 173 {ECO:0000313|Ensembl:ENSP00000430740}. SQ SEQUENCE 173 AA; 18631 MW; C1FC69ECC1251E57 CRC64; XRGGAGVAMA VWSLLSARAV TAFLLLFLPR FLQAQTFSFP FQQPEKCDNN QYFDISALSC VPCGANQRQD ARGTSCVCLP GFQMISNNGG PAIICKKCPE NMKGVTEDGW NCISCPSDLT AEGKCHCPIG HILVERDING TLLSQATCEL CDGNENSFMV VNALGDRQGD YVS //