CC107_HUMAN
ID CC107_HUMAN Reviewed; 283 AA.
AC Q8WV48; A6XND6; Q5T4R5; Q5T4R8; Q5T4R9; Q86VB6; Q8N2E4;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Coiled-coil domain-containing protein 107;
DE Flags: Precursor;
GN Name=CCDC107; ORFNames=PSEC0222;
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 [MRNA] (ISOFORM 5), AND VARIANT VAL-220.
RA Yu Z., Zheng Z., Tang T., Fu Y.;
RT "A computer system platform used to predict novel genes.";
RL Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Embryo;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT VAL-220.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP VAL-220.
RC TISSUE=Mammary gland, and Pancreas;
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).
CC -!- INTERACTION:
CC Q8WV48; Q9UHX3: ADGRE2; NbExp=3; IntAct=EBI-947033, EBI-11277970;
CC Q8WV48; Q15848: ADIPOQ; NbExp=3; IntAct=EBI-947033, EBI-10827839;
CC Q8WV48; Q14416: GRM2; NbExp=3; IntAct=EBI-947033, EBI-10232876;
CC Q8WV48; P78383: SLC35B1; NbExp=3; IntAct=EBI-947033, EBI-12147661;
CC Q8WV48; P01375: TNF; NbExp=3; IntAct=EBI-947033, EBI-359977;
CC Q8WV48; Q9H1C4: UNC93B1; NbExp=3; IntAct=EBI-947033, EBI-4401271;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8WV48-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WV48-2; Sequence=VSP_024130, VSP_024133;
CC Name=3;
CC IsoId=Q8WV48-3; Sequence=VSP_024131, VSP_024132;
CC Name=4;
CC IsoId=Q8WV48-4; Sequence=VSP_024128, VSP_024129;
CC Name=5;
CC IsoId=Q8WV48-5; Sequence=VSP_042165;
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DR EMBL; DQ884403; ABI63370.1; -; mRNA.
DR EMBL; AK075523; BAC11669.1; -; mRNA.
DR EMBL; AL357874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58369.1; -; Genomic_DNA.
DR EMBL; BC018758; AAH18758.1; -; mRNA.
DR EMBL; BC051285; AAH51285.1; -; mRNA.
DR CCDS; CCDS56573.1; -. [Q8WV48-5]
DR CCDS; CCDS56574.1; -. [Q8WV48-2]
DR CCDS; CCDS56575.1; -. [Q8WV48-3]
DR CCDS; CCDS6583.1; -. [Q8WV48-1]
DR RefSeq; NP_001182129.1; NM_001195200.1. [Q8WV48-5]
DR RefSeq; NP_001182130.1; NM_001195201.1. [Q8WV48-2]
DR RefSeq; NP_001182146.1; NM_001195217.1. [Q8WV48-3]
DR RefSeq; NP_777583.2; NM_174923.2. [Q8WV48-1]
DR AlphaFoldDB; Q8WV48; -.
DR SMR; Q8WV48; -.
DR BioGRID; 128462; 69.
DR IntAct; Q8WV48; 25.
DR MINT; Q8WV48; -.
DR STRING; 9606.ENSP00000414964; -.
DR iPTMnet; Q8WV48; -.
DR PhosphoSitePlus; Q8WV48; -.
DR BioMuta; CCDC107; -.
DR DMDM; 143955294; -.
DR EPD; Q8WV48; -.
DR MassIVE; Q8WV48; -.
DR PaxDb; Q8WV48; -.
DR PeptideAtlas; Q8WV48; -.
DR PRIDE; Q8WV48; -.
DR ProteomicsDB; 74751; -. [Q8WV48-1]
DR ProteomicsDB; 74752; -. [Q8WV48-2]
DR ProteomicsDB; 74753; -. [Q8WV48-3]
DR ProteomicsDB; 74754; -. [Q8WV48-4]
DR ProteomicsDB; 74755; -. [Q8WV48-5]
DR Antibodypedia; 51334; 59 antibodies from 14 providers.
DR DNASU; 203260; -.
DR Ensembl; ENST00000327351.6; ENSP00000330327.2; ENSG00000159884.12. [Q8WV48-2]
DR Ensembl; ENST00000378407.7; ENSP00000367662.3; ENSG00000159884.12. [Q8WV48-3]
DR Ensembl; ENST00000378409.7; ENSP00000367665.3; ENSG00000159884.12. [Q8WV48-5]
DR Ensembl; ENST00000421582.2; ENSP00000413003.2; ENSG00000159884.12. [Q8WV48-4]
DR Ensembl; ENST00000426546.7; ENSP00000414964.2; ENSG00000159884.12. [Q8WV48-1]
DR GeneID; 203260; -.
DR KEGG; hsa:203260; -.
DR MANE-Select; ENST00000426546.7; ENSP00000414964.2; NM_174923.3; NP_777583.2.
DR UCSC; uc003zxj.4; human. [Q8WV48-1]
DR CTD; 203260; -.
DR DisGeNET; 203260; -.
DR GeneCards; CCDC107; -.
DR HGNC; HGNC:28465; CCDC107.
DR HPA; ENSG00000159884; Low tissue specificity.
DR MalaCards; CCDC107; -.
DR neXtProt; NX_Q8WV48; -.
DR OpenTargets; ENSG00000159884; -.
DR PharmGKB; PA145008668; -.
DR VEuPathDB; HostDB:ENSG00000159884; -.
DR eggNOG; ENOG502QQ24; Eukaryota.
DR GeneTree; ENSGT00390000018608; -.
DR HOGENOM; CLU_097023_0_0_1; -.
DR InParanoid; Q8WV48; -.
DR OMA; ATSWQVE; -.
DR OrthoDB; 1332244at2759; -.
DR PhylomeDB; Q8WV48; -.
DR TreeFam; TF333319; -.
DR PathwayCommons; Q8WV48; -.
DR SignaLink; Q8WV48; -.
DR BioGRID-ORCS; 203260; 45 hits in 1078 CRISPR screens.
DR ChiTaRS; CCDC107; human.
DR GenomeRNAi; 203260; -.
DR Pharos; Q8WV48; Tdark.
DR PRO; PR:Q8WV48; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8WV48; protein.
DR Bgee; ENSG00000159884; Expressed in popliteal artery and 182 other tissues.
DR ExpressionAtlas; Q8WV48; baseline and differential.
DR Genevisible; Q8WV48; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR038779; CCDC107.
DR PANTHER; PTHR37345; PTHR37345; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..283
FT /note="Coiled-coil domain-containing protein 107"
FT /id="PRO_0000282407"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 30..62
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 164..207
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 258..283
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 104..134
FT /evidence="ECO:0000255"
FT VAR_SEQ 107..119
FT /note="EQQLAQLTQQLAQ -> GGFSRSLCWVGGV (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_024128"
FT VAR_SEQ 120..283
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_024129"
FT VAR_SEQ 138..155
FT /note="VTTLAGAQQELLNMKLWT -> PAGASEHEAMDHPRAAAR (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024130"
FT VAR_SEQ 138..139
FT /note="VT -> SF (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024131"
FT VAR_SEQ 140..283
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024132"
FT VAR_SEQ 156..283
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024133"
FT VAR_SEQ 175..201
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_042165"
FT VARIANT 190
FT /note="S -> F (in dbSNP:rs2275420)"
FT /id="VAR_031406"
FT VARIANT 220
FT /note="I -> V (in dbSNP:rs1339374)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1,
FT ECO:0000269|Ref.4"
FT /id="VAR_031407"
FT VARIANT 242
FT /note="S -> C (in dbSNP:rs10441685)"
FT /id="VAR_031408"
SQ SEQUENCE 283 AA; 30509 MW; A2EBDBBFA49F978D CRC64;
MAGAVSLLGV VGLLLVSALS GVLGDRANPD LRAHPGNAAH PGSGATEPRR RPPLKDQRER
TRAGSLPLGA LYTAAVAAFV LYKCLQGKDE TAVLHEEASK QQPLQSEQQL AQLTQQLAQT
EQHLNNLMAQ LDPLFERVTT LAGAQQELLN MKLWTIHELL QDSKPDKDME ASEPGEGSGG
ESAGGGDKVS ETGTFLISPH TEASRPLPED FCLKEDEEEI GDSQAWEEPT NWSTETWNLA
TSWEVGRGLR RRCSQAVAKG PSHSLGWEGG TTAEGRLKQS LFS
