MCCD1_HUMAN
ID MCCD1_HUMAN Reviewed; 119 AA.
AC P59942; A2AB29; A2RUP7; B0UZB2; Q7RTY2;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Mitochondrial coiled-coil domain protein 1;
DE Flags: Precursor;
GN Name=MCCD1;
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], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP VARIANTS ASN-45 AND MET-53.
RC TISSUE=Kidney;
RX PubMed=14527716; DOI=10.1016/s0378-1119(03)00735-2;
RA Semple J.I., Ribas G., Hillyard G., Brown S.E., Sanderson C.M.,
RA Campbell R.D.;
RT "A novel gene encoding a coiled-coil mitochondrial protein located at the
RT telomeric end of the human MHC Class III region.";
RL Gene 314:41-54(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LYS-42 AND
RP ASN-45.
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-45.
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 P59942; Q00994: BEX3; NbExp=3; IntAct=EBI-11987923, EBI-741753;
CC P59942; Q13515: BFSP2; NbExp=3; IntAct=EBI-11987923, EBI-10229433;
CC P59942; Q9Y376: CAB39; NbExp=3; IntAct=EBI-11987923, EBI-306905;
CC P59942; P10606: COX5B; NbExp=3; IntAct=EBI-11987923, EBI-1053725;
CC P59942; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-11987923, EBI-11962928;
CC P59942; Q53EP0-3: FNDC3B; NbExp=3; IntAct=EBI-11987923, EBI-10242151;
CC P59942; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-11987923, EBI-2556193;
CC P59942; Q7Z3Y9: KRT26; NbExp=3; IntAct=EBI-11987923, EBI-12084444;
CC P59942; Q16719-2: KYNU; NbExp=3; IntAct=EBI-11987923, EBI-12351611;
CC P59942; P61968: LMO4; NbExp=3; IntAct=EBI-11987923, EBI-2798728;
CC P59942; O15116: LSM1; NbExp=3; IntAct=EBI-11987923, EBI-347619;
CC P59942; O14770-4: MEIS2; NbExp=3; IntAct=EBI-11987923, EBI-8025850;
CC P59942; Q13064: MKRN3; NbExp=3; IntAct=EBI-11987923, EBI-2340269;
CC P59942; P20591: MX1; NbExp=6; IntAct=EBI-11987923, EBI-929476;
CC P59942; Q01449: MYL7; NbExp=3; IntAct=EBI-11987923, EBI-10222416;
CC P59942; Q7Z4N8: P4HA3; NbExp=3; IntAct=EBI-11987923, EBI-10181968;
CC P59942; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-11987923, EBI-10232538;
CC P59942; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-11987923, EBI-710402;
CC P59942; P0CG20: PRR35; NbExp=3; IntAct=EBI-11987923, EBI-11986293;
CC P59942; P47897: QARS1; NbExp=3; IntAct=EBI-11987923, EBI-347462;
CC P59942; Q0D2K3: RIPPLY1; NbExp=3; IntAct=EBI-11987923, EBI-10226430;
CC P59942; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-11987923, EBI-739895;
CC P59942; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-11987923, EBI-14096082;
CC P59942; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11987923, EBI-740727;
CC P59942; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-11987923, EBI-6427977;
CC P59942; Q7L2R6-2: ZNF765; NbExp=3; IntAct=EBI-11987923, EBI-12834294;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:14527716}.
CC -!- TISSUE SPECIFICITY: Widely expressed. Expressed in adult and fetal
CC liver, kidney and lung. Expressed in fetal brain. Weakly expressed in
CC fetal spleen. {ECO:0000269|PubMed:14527716}.
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DR EMBL; BN000141; CAD71139.1; -; mRNA.
DR EMBL; BA000025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL663061; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662801; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX248516; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX682535; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR753864; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CT009531; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC132994; AAI32995.1; -; mRNA.
DR EMBL; BC132996; AAI32997.1; -; mRNA.
DR CCDS; CCDS34396.1; -.
DR RefSeq; NP_001011700.2; NM_001011700.2.
DR AlphaFoldDB; P59942; -.
DR SMR; P59942; -.
DR BioGRID; 134995; 34.
DR IntAct; P59942; 26.
DR STRING; 9606.ENSP00000365362; -.
DR BioMuta; MCCD1; -.
DR DMDM; 327478572; -.
DR PaxDb; P59942; -.
DR PeptideAtlas; P59942; -.
DR PRIDE; P59942; -.
DR Antibodypedia; 48824; 7 antibodies from 6 providers.
DR DNASU; 401250; -.
DR Ensembl; ENST00000376191.3; ENSP00000365362.2; ENSG00000204511.3.
DR Ensembl; ENST00000383512.2; ENSP00000373004.2; ENSG00000206447.2.
DR Ensembl; ENST00000421209.2; ENSP00000389666.2; ENSG00000226923.2.
DR Ensembl; ENST00000422733.2; ENSP00000407020.2; ENSG00000226841.2.
DR Ensembl; ENST00000424816.2; ENSP00000399197.2; ENSG00000225228.2.
DR Ensembl; ENST00000430073.2; ENSP00000407581.2; ENSG00000228662.2.
DR Ensembl; ENST00000443405.2; ENSP00000402555.2; ENSG00000238238.2.
DR Ensembl; ENST00000452195.2; ENSP00000392250.2; ENSG00000231975.2.
DR GeneID; 401250; -.
DR KEGG; hsa:401250; -.
DR MANE-Select; ENST00000376191.3; ENSP00000365362.2; NM_001011700.3; NP_001011700.2.
DR UCSC; uc003ntp.2; human.
DR CTD; 401250; -.
DR DisGeNET; 401250; -.
DR GeneCards; MCCD1; -.
DR HGNC; HGNC:20668; MCCD1.
DR HPA; ENSG00000204511; Tissue enriched (kidney).
DR MIM; 609624; gene.
DR neXtProt; NX_P59942; -.
DR OpenTargets; ENSG00000204511; -.
DR PharmGKB; PA134913652; -.
DR VEuPathDB; HostDB:ENSG00000204511; -.
DR eggNOG; ENOG502TDVX; Eukaryota.
DR GeneTree; ENSGT00390000014268; -.
DR HOGENOM; CLU_2249255_0_0_1; -.
DR InParanoid; P59942; -.
DR OMA; GSWRCCS; -.
DR OrthoDB; 1564098at2759; -.
DR PhylomeDB; P59942; -.
DR TreeFam; TF340465; -.
DR PathwayCommons; P59942; -.
DR SignaLink; P59942; -.
DR BioGRID-ORCS; 401250; 16 hits in 1060 CRISPR screens.
DR GenomeRNAi; 401250; -.
DR Pharos; P59942; Tdark.
DR PRO; PR:P59942; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; P59942; protein.
DR Bgee; ENSG00000204511; Expressed in adult mammalian kidney and 49 other tissues.
DR ExpressionAtlas; P59942; baseline and differential.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR InterPro; IPR031438; MCCD1.
DR PANTHER; PTHR37877; PTHR37877; 1.
DR Pfam; PF15707; MCCD1; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..24
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 25..119
FT /note="Mitochondrial coiled-coil domain protein 1"
FT /id="PRO_0000021657"
FT REGION 25..65
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 62..116
FT /evidence="ECO:0000255"
FT COMPBIAS 26..52
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 42
FT /note="E -> K (in dbSNP:rs2259435)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_017161"
FT VARIANT 45
FT /note="S -> N (in dbSNP:rs3093983)"
FT /evidence="ECO:0000269|PubMed:14527716,
FT ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334"
FT /id="VAR_017162"
FT VARIANT 53
FT /note="T -> M (in dbSNP:rs78957773)"
FT /evidence="ECO:0000269|PubMed:14527716"
FT /id="VAR_017163"
SQ SEQUENCE 119 AA; 13259 MW; 0EA678C3DFC1C5AB CRC64;
MVLPLPWLSR YHFLRLLLPS WSLAPQGSHG CCSQNPKASM EEQTSSRGNG KMTSPPRGPG
THRTAELARA EELLEQQLEL YQALLEGQEG AWEAQALVLK IQKLKEQMRR HQESLGGGA
