CHCH5_HUMAN
ID CHCH5_HUMAN Reviewed; 110 AA.
AC Q9BSY4; Q585T4; Q8N8C4;
DT 12-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 5;
GN Name=CHCHD5; Synonyms=C2orf9;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
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).
RN [5]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [6]
RP STRUCTURE BY NMR, SUBUNIT, PUTATIVE SUBCELLULAR LOCATION, IDENTIFICATION BY
RP MASS SPECTROMETRY, AND DISULFIDE BONDS.
RX PubMed=22842048; DOI=10.1016/j.jsb.2012.07.007;
RA Banci L., Bertini I., Ciofi-Baffoni S., Jaiswal D., Neri S., Peruzzini R.,
RA Winkelmann J.;
RT "Structural characterization of CHCHD5 and CHCHD7: two atypical human twin
RT CX9C proteins.";
RL J. Struct. Biol. 180:190-200(2012).
CC -!- SUBUNIT: Monomer. {ECO:0000269|PubMed:22842048}.
CC -!- INTERACTION:
CC Q9BSY4; Q0VD86: INCA1; NbExp=3; IntAct=EBI-11521409, EBI-6509505;
CC -!- SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BSY4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSY4-2; Sequence=VSP_056577;
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; AK096990; BAC04922.1; -; mRNA.
DR EMBL; AC012442; AAX82000.1; -; Genomic_DNA.
DR EMBL; CH471217; EAW73594.1; -; Genomic_DNA.
DR EMBL; BC004498; AAH04498.1; -; mRNA.
DR CCDS; CCDS2098.1; -. [Q9BSY4-1]
DR RefSeq; NP_115685.1; NM_032309.3. [Q9BSY4-1]
DR RefSeq; XP_005263881.1; XM_005263824.3. [Q9BSY4-2]
DR PDB; 2LQL; NMR; -; A=1-110.
DR PDBsum; 2LQL; -.
DR AlphaFoldDB; Q9BSY4; -.
DR BMRB; Q9BSY4; -.
DR SMR; Q9BSY4; -.
DR BioGRID; 123996; 11.
DR IntAct; Q9BSY4; 6.
DR MINT; Q9BSY4; -.
DR STRING; 9606.ENSP00000325655; -.
DR iPTMnet; Q9BSY4; -.
DR PhosphoSitePlus; Q9BSY4; -.
DR BioMuta; CHCHD5; -.
DR DMDM; 62510506; -.
DR EPD; Q9BSY4; -.
DR jPOST; Q9BSY4; -.
DR MassIVE; Q9BSY4; -.
DR MaxQB; Q9BSY4; -.
DR PaxDb; Q9BSY4; -.
DR PeptideAtlas; Q9BSY4; -.
DR PRIDE; Q9BSY4; -.
DR ProteomicsDB; 72400; -.
DR ProteomicsDB; 78933; -. [Q9BSY4-1]
DR TopDownProteomics; Q9BSY4-1; -. [Q9BSY4-1]
DR Antibodypedia; 47917; 213 antibodies from 14 providers.
DR DNASU; 84269; -.
DR Ensembl; ENST00000324913.10; ENSP00000325655.5; ENSG00000125611.16. [Q9BSY4-1]
DR Ensembl; ENST00000409719.1; ENSP00000386994.1; ENSG00000125611.16. [Q9BSY4-2]
DR GeneID; 84269; -.
DR KEGG; hsa:84269; -.
DR MANE-Select; ENST00000324913.10; ENSP00000325655.5; NM_032309.4; NP_115685.1.
DR UCSC; uc002thz.2; human. [Q9BSY4-1]
DR CTD; 84269; -.
DR DisGeNET; 84269; -.
DR GeneCards; CHCHD5; -.
DR HGNC; HGNC:17840; CHCHD5.
DR HPA; ENSG00000125611; Low tissue specificity.
DR MIM; 616978; gene.
DR neXtProt; NX_Q9BSY4; -.
DR PharmGKB; PA25896; -.
DR VEuPathDB; HostDB:ENSG00000125611; -.
DR eggNOG; ENOG502S5BR; Eukaryota.
DR GeneTree; ENSGT00390000007919; -.
DR HOGENOM; CLU_165152_0_0_1; -.
DR InParanoid; Q9BSY4; -.
DR OMA; EMEQYGR; -.
DR OrthoDB; 1345840at2759; -.
DR PhylomeDB; Q9BSY4; -.
DR TreeFam; TF333181; -.
DR PathwayCommons; Q9BSY4; -.
DR Reactome; R-HSA-1268020; Mitochondrial protein import.
DR SignaLink; Q9BSY4; -.
DR BioGRID-ORCS; 84269; 24 hits in 1077 CRISPR screens.
DR GenomeRNAi; 84269; -.
DR Pharos; Q9BSY4; Tbio.
DR PRO; PR:Q9BSY4; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9BSY4; protein.
DR Bgee; ENSG00000125611; Expressed in left testis and 129 other tissues.
DR ExpressionAtlas; Q9BSY4; baseline and differential.
DR Genevisible; Q9BSY4; HS.
DR GO; GO:0005758; C:mitochondrial intermembrane space; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; NAS:UniProtKB.
DR GO; GO:0045333; P:cellular respiration; IBA:GO_Central.
DR DisProt; DP00757; -.
DR InterPro; IPR010625; CHCH.
DR InterPro; IPR031731; CX9C.
DR Pfam; PF06747; CHCH; 1.
DR Pfam; PF16860; CX9C; 1.
DR PROSITE; PS51808; CHCH; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Alternative splicing; Disulfide bond;
KW Mitochondrion; Reference proteome.
FT CHAIN 1..110
FT /note="Coiled-coil-helix-coiled-coil-helix domain-
FT containing protein 5"
FT /id="PRO_0000129167"
FT DOMAIN 9..52
FT /note="CHCH 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DOMAIN 55..97
FT /note="CHCH 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 12..22
FT /note="Cx9C motif 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 34..44
FT /note="Cx9C motif 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 58..68
FT /note="Cx9C motif 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 79..89
FT /note="Cx9C motif 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT DISULFID 12..44
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:22842048"
FT DISULFID 22..34
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:22842048"
FT DISULFID 58..89
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:22842048"
FT DISULFID 68..79
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:22842048"
FT VAR_SEQ 104..110
FT /note="AQPLPAS -> VRGAHLSSSLFSITSPSSFWLFRVKTLESSSAPPHHHTGLC
FT HASRIQNIITSCPI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056577"
FT HELIX 13..25
FT /evidence="ECO:0007829|PDB:2LQL"
FT HELIX 29..32
FT /evidence="ECO:0007829|PDB:2LQL"
FT HELIX 36..46
FT /evidence="ECO:0007829|PDB:2LQL"
FT HELIX 52..57
FT /evidence="ECO:0007829|PDB:2LQL"
FT HELIX 59..71
FT /evidence="ECO:0007829|PDB:2LQL"
FT TURN 76..78
FT /evidence="ECO:0007829|PDB:2LQL"
FT HELIX 82..90
FT /evidence="ECO:0007829|PDB:2LQL"
SQ SEQUENCE 110 AA; 12395 MW; C4C3238D0C08F97F CRC64;
MQAALEVTAR YCGRELEQYG QCVAAKPESW QRDCHYLKMS IAQCTSSHPI IRQIRQACAQ
PFEAFEECLR QNEAAVGNCA EHMRRFLQCA EQVQPPRSPA TVEAQPLPAS
