CHCH7_HUMAN
ID CHCH7_HUMAN Reviewed; 85 AA.
AC Q9BUK0; A8K223; E9PBH3; J3KNE9; Q7Z588;
DT 12-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 7;
GN Name=CHCHD7;
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 3).
RA Guo J.H., Zan Q., Yu L.;
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Heart, and Subthalamic nucleus;
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=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., 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., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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] (ISOFORM 2).
RC TISSUE=Placenta;
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 [6]
RP CHROMOSOMAL REARRANGEMENT WITH PLAG1.
RX PubMed=16736500; DOI=10.1002/gcc.20346;
RA Asp J., Persson F., Kost-Alimova M., Stenman G.;
RT "CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic,
RT intrachromosomal 8q rearrangements in pleomorphic salivary gland
RT adenomas.";
RL Genes Chromosomes Cancer 45:820-828(2006).
RN [7]
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 -!- SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q9BUK0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BUK0-2; Sequence=VSP_038076;
CC Name=3;
CC IsoId=Q9BUK0-3; Sequence=VSP_038076, VSP_038077;
CC Name=4;
CC IsoId=Q9BUK0-4; Sequence=VSP_046698;
CC Name=5;
CC IsoId=Q9BUK0-5; Sequence=VSP_038077;
CC -!- DISEASE: Note=A chromosomal aberration involving CHCHD7 is found in
CC salivary gland pleiomorphic adenomas, the most common benign epithelial
CC tumors of the salivary gland. Translocation t(6;8)(p21.3-22;q13) with
CC PLAG1. {ECO:0000269|PubMed:16736500}.
CC -!- SIMILARITY: Belongs to the CHCHD7 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW86776.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AY070434; AAL65261.1; -; mRNA.
DR EMBL; AK095922; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK290088; BAF82777.1; -; mRNA.
DR EMBL; AC107952; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471068; EAW86776.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471068; EAW86778.1; -; Genomic_DNA.
DR EMBL; BC002546; AAH02546.2; -; mRNA.
DR CCDS; CCDS34895.1; -. [Q9BUK0-4]
DR CCDS; CCDS34896.1; -. [Q9BUK0-1]
DR CCDS; CCDS55232.1; -. [Q9BUK0-3]
DR CCDS; CCDS55233.1; -. [Q9BUK0-5]
DR CCDS; CCDS6166.2; -. [Q9BUK0-2]
DR RefSeq; NP_001011667.1; NM_001011667.2.
DR RefSeq; NP_001011668.1; NM_001011668.2. [Q9BUK0-4]
DR RefSeq; NP_001011669.1; NM_001011669.2. [Q9BUK0-3]
DR RefSeq; NP_001011670.1; NM_001011670.2. [Q9BUK0-5]
DR RefSeq; NP_001011671.1; NM_001011671.2. [Q9BUK0-1]
DR RefSeq; NP_001304787.1; NM_001317858.1. [Q9BUK0-3]
DR RefSeq; NP_001304788.1; NM_001317859.1.
DR RefSeq; NP_077276.2; NM_024300.4. [Q9BUK0-2]
DR PDB; 2LQT; NMR; -; A=1-85.
DR PDBsum; 2LQT; -.
DR AlphaFoldDB; Q9BUK0; -.
DR BMRB; Q9BUK0; -.
DR SMR; Q9BUK0; -.
DR BioGRID; 122564; 6.
DR IntAct; Q9BUK0; 3.
DR STRING; 9606.ENSP00000306425; -.
DR iPTMnet; Q9BUK0; -.
DR PhosphoSitePlus; Q9BUK0; -.
DR BioMuta; CHCHD7; -.
DR DMDM; 62510507; -.
DR EPD; Q9BUK0; -.
DR jPOST; Q9BUK0; -.
DR MassIVE; Q9BUK0; -.
DR MaxQB; Q9BUK0; -.
DR PaxDb; Q9BUK0; -.
DR PeptideAtlas; Q9BUK0; -.
DR PRIDE; Q9BUK0; -.
DR ProteomicsDB; 79095; -. [Q9BUK0-1]
DR ProteomicsDB; 79096; -. [Q9BUK0-2]
DR Antibodypedia; 42406; 57 antibodies from 22 providers.
DR DNASU; 79145; -.
DR Ensembl; ENST00000303759.3; ENSP00000306425.3; ENSG00000170791.18. [Q9BUK0-4]
DR Ensembl; ENST00000355315.8; ENSP00000347469.3; ENSG00000170791.18. [Q9BUK0-1]
DR Ensembl; ENST00000518801.5; ENSP00000428274.1; ENSG00000170791.18. [Q9BUK0-3]
DR Ensembl; ENST00000519367.1; ENSP00000428095.1; ENSG00000170791.18. [Q9BUK0-5]
DR Ensembl; ENST00000521524.5; ENSP00000430458.1; ENSG00000170791.18. [Q9BUK0-3]
DR Ensembl; ENST00000521831.5; ENSP00000429635.1; ENSG00000170791.18. [Q9BUK0-5]
DR Ensembl; ENST00000523975.5; ENSP00000428917.1; ENSG00000170791.18. [Q9BUK0-2]
DR GeneID; 79145; -.
DR KEGG; hsa:79145; -.
DR MANE-Select; ENST00000355315.8; ENSP00000347469.3; NM_001011671.3; NP_001011671.1.
DR UCSC; uc003xss.4; human. [Q9BUK0-1]
DR CTD; 79145; -.
DR DisGeNET; 79145; -.
DR GeneCards; CHCHD7; -.
DR HGNC; HGNC:28314; CHCHD7.
DR HPA; ENSG00000170791; Low tissue specificity.
DR MIM; 611238; gene.
DR neXtProt; NX_Q9BUK0; -.
DR OpenTargets; ENSG00000170791; -.
DR PharmGKB; PA134883538; -.
DR VEuPathDB; HostDB:ENSG00000170791; -.
DR eggNOG; KOG4618; Eukaryota.
DR GeneTree; ENSGT00390000001029; -.
DR HOGENOM; CLU_175044_1_0_1; -.
DR InParanoid; Q9BUK0; -.
DR OMA; NYDKERC; -.
DR OrthoDB; 1617584at2759; -.
DR PhylomeDB; Q9BUK0; -.
DR TreeFam; TF300284; -.
DR PathwayCommons; Q9BUK0; -.
DR Reactome; R-HSA-1268020; Mitochondrial protein import.
DR SignaLink; Q9BUK0; -.
DR BioGRID-ORCS; 79145; 17 hits in 1084 CRISPR screens.
DR ChiTaRS; CHCHD7; human.
DR GenomeRNAi; 79145; -.
DR Pharos; Q9BUK0; Tdark.
DR PRO; PR:Q9BUK0; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9BUK0; protein.
DR Bgee; ENSG00000170791; Expressed in secondary oocyte and 195 other tissues.
DR ExpressionAtlas; Q9BUK0; baseline and differential.
DR Genevisible; Q9BUK0; HS.
DR GO; GO:0005758; C:mitochondrial intermembrane space; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0033108; P:mitochondrial respiratory chain complex assembly; IBA:GO_Central.
DR InterPro; IPR009069; Cys_alpha_HP_mot_SF.
DR SUPFAM; SSF47072; SSF47072; 1.
DR PROSITE; PS51808; CHCH; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Chromosomal rearrangement;
KW Disulfide bond; Mitochondrion; Reference proteome.
FT CHAIN 1..85
FT /note="Coiled-coil-helix-coiled-coil-helix domain-
FT containing protein 7"
FT /id="PRO_0000129171"
FT DOMAIN 13..55
FT /note="CHCH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 16..26
FT /note="Cx9C motif 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 37..47
FT /note="Cx9C motif 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 16..47
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:22842048"
FT DISULFID 26..37
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:22842048"
FT VAR_SEQ 1
FT /note="M -> MHQTRTGKKTVRM (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_038076"
FT VAR_SEQ 1
FT /note="M -> MKCEETHAPNSNWVYVMLPSKKTVRM (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_046698"
FT VAR_SEQ 19..85
FT /note="ESDASTRCLDENNYDRERCSTYFLRYKNCRRFWNSIVMQRRKNGVKPFMPTA
FT AERDEILRAVGNMPY -> ILFYLLNDASLISVRNLMLPPDVWMKITMTGKGVPLTS
FT (in isoform 3 and isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_038077"
FT HELIX 17..29
FT /evidence="ECO:0007829|PDB:2LQT"
FT TURN 30..32
FT /evidence="ECO:0007829|PDB:2LQT"
FT TURN 34..37
FT /evidence="ECO:0007829|PDB:2LQT"
FT HELIX 38..59
FT /evidence="ECO:0007829|PDB:2LQT"
FT HELIX 70..80
FT /evidence="ECO:0007829|PDB:2LQT"
SQ SEQUENCE 85 AA; 10095 MW; 957C3727AB9B3C8C CRC64;
MPSVTQRLRD PDINPCLSES DASTRCLDEN NYDRERCSTY FLRYKNCRRF WNSIVMQRRK
NGVKPFMPTA AERDEILRAV GNMPY
