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Protein

Coiled-coil-helix-coiled-coil-helix domain-containing protein 7

Gene

CHCHD7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
Gene namesi
Name:CHCHD7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:28314. CHCHD7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CHCHD7 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(6;8)(p21.3-22;q13) with PLAG1.

Organism-specific databases

PharmGKBiPA134883538.

Polymorphism and mutation databases

BioMutaiCHCHD7.
DMDMi62510507.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 8585Coiled-coil-helix-coiled-coil-helix domain-containing protein 7PRO_0000129171Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi16 ↔ 471 Publication
Disulfide bondi26 ↔ 371 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ9BUK0.
MaxQBiQ9BUK0.
PaxDbiQ9BUK0.
PRIDEiQ9BUK0.

PTM databases

PhosphoSiteiQ9BUK0.

Expressioni

Gene expression databases

BgeeiQ9BUK0.
CleanExiHS_CHCHD7.
ExpressionAtlasiQ9BUK0. baseline and differential.
GenevisibleiQ9BUK0. HS.

Organism-specific databases

HPAiHPA050783.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi122564. 1 interaction.
STRINGi9606.ENSP00000306425.

Structurei

Secondary structure

1
85
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi17 – 2913Combined sources
Turni30 – 323Combined sources
Turni34 – 374Combined sources
Helixi38 – 5922Combined sources
Helixi70 – 8011Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LQTNMR-A1-85[»]
ProteinModelPortaliQ9BUK0.
SMRiQ9BUK0. Positions 14-85.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini14 – 5037CHCHAdd
BLAST

Sequence similaritiesi

Belongs to the CHCHD7 family.Curated
Contains 1 CHCH domain.Curated

Phylogenomic databases

eggNOGiKOG4618. Eukaryota.
ENOG4112B0H. LUCA.
GeneTreeiENSGT00390000001029.
HOGENOMiHOG000008048.
HOVERGENiHBG050939.
InParanoidiQ9BUK0.
OMAiKFWNSIM.
PhylomeDBiQ9BUK0.
TreeFamiTF300284.

Family and domain databases

Gene3Di1.10.810.10. 1 hit.
InterProiIPR009069. Cys_alpha_HP_mot_SF.
[Graphical view]
SUPFAMiSSF47072. SSF47072. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BUK0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPSVTQRLRD PDINPCLSES DASTRCLDEN NYDRERCSTY FLRYKNCRRF
60 70 80
WNSIVMQRRK NGVKPFMPTA AERDEILRAV GNMPY
Length:85
Mass (Da):10,095
Last modified:June 1, 2001 - v1
Checksum:i957C3727AB9B3C8C
GO
Isoform 2 (identifier: Q9BUK0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MHQTRTGKKTVRM

Show »
Length:97
Mass (Da):11,520
Checksum:i468FD363008C4E27
GO
Isoform 3 (identifier: Q9BUK0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MHQTRTGKKTVRM
     19-85: ESDASTRCLD...ILRAVGNMPY → ILFYLLNDAS...MTGKGVPLTS

Show »
Length:68
Mass (Da):7,698
Checksum:i053B3E625CD23E45
GO
Isoform 4 (identifier: Q9BUK0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKCEETHAPNSNWVYVMLPSKKTVRM

Note: Gene prediction based on EST data.
Show »
Length:110
Mass (Da):13,027
Checksum:iF0F87B55E23FC8A4
GO
Isoform 5 (identifier: Q9BUK0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-85: ESDASTRCLD...ILRAVGNMPY → ILFYLLNDAS...MTGKGVPLTS

Show »
Length:56
Mass (Da):6,273
Checksum:iC0C18EBDE94B0555
GO

Sequence cautioni

The sequence EAW86776.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MHQTRTGKKTVRM in isoform 2 and isoform 3. 3 PublicationsVSP_038076
Alternative sequencei1 – 11M → MKCEETHAPNSNWVYVMLPS KKTVRM in isoform 4. CuratedVSP_046698
Alternative sequencei19 – 8567ESDAS…GNMPY → ILFYLLNDASLISVRNLMLP PDVWMKITMTGKGVPLTS in isoform 3 and isoform 5. 1 PublicationVSP_038077Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY070434 mRNA. Translation: AAL65261.1.
AK095922 mRNA. No translation available.
AK290088 mRNA. Translation: BAF82777.1.
AC107952 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86776.1. Sequence problems.
CH471068 Genomic DNA. Translation: EAW86778.1.
BC002546 mRNA. Translation: AAH02546.2.
CCDSiCCDS34895.1. [Q9BUK0-4]
CCDS34896.1. [Q9BUK0-1]
CCDS55232.1. [Q9BUK0-3]
CCDS55233.1. [Q9BUK0-5]
CCDS6166.2. [Q9BUK0-2]
RefSeqiNP_001011667.1. NM_001011667.2.
NP_001011668.1. NM_001011668.2. [Q9BUK0-4]
NP_001011669.1. NM_001011669.2. [Q9BUK0-3]
NP_001011670.1. NM_001011670.2. [Q9BUK0-5]
NP_001011671.1. NM_001011671.2. [Q9BUK0-1]
NP_001304787.1. NM_001317858.1. [Q9BUK0-3]
NP_001304788.1. NM_001317859.1.
NP_077276.2. NM_024300.4. [Q9BUK0-2]
UniGeneiHs.436913.

Genome annotation databases

EnsembliENST00000303759; ENSP00000306425; ENSG00000170791. [Q9BUK0-4]
ENST00000355315; ENSP00000347469; ENSG00000170791. [Q9BUK0-1]
ENST00000518801; ENSP00000428274; ENSG00000170791. [Q9BUK0-3]
ENST00000519367; ENSP00000428095; ENSG00000170791. [Q9BUK0-5]
ENST00000521524; ENSP00000430458; ENSG00000170791. [Q9BUK0-3]
ENST00000521831; ENSP00000429635; ENSG00000170791. [Q9BUK0-5]
ENST00000523975; ENSP00000428917; ENSG00000170791. [Q9BUK0-2]
GeneIDi79145.
UCSCiuc003xss.4. human. [Q9BUK0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY070434 mRNA. Translation: AAL65261.1.
AK095922 mRNA. No translation available.
AK290088 mRNA. Translation: BAF82777.1.
AC107952 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86776.1. Sequence problems.
CH471068 Genomic DNA. Translation: EAW86778.1.
BC002546 mRNA. Translation: AAH02546.2.
CCDSiCCDS34895.1. [Q9BUK0-4]
CCDS34896.1. [Q9BUK0-1]
CCDS55232.1. [Q9BUK0-3]
CCDS55233.1. [Q9BUK0-5]
CCDS6166.2. [Q9BUK0-2]
RefSeqiNP_001011667.1. NM_001011667.2.
NP_001011668.1. NM_001011668.2. [Q9BUK0-4]
NP_001011669.1. NM_001011669.2. [Q9BUK0-3]
NP_001011670.1. NM_001011670.2. [Q9BUK0-5]
NP_001011671.1. NM_001011671.2. [Q9BUK0-1]
NP_001304787.1. NM_001317858.1. [Q9BUK0-3]
NP_001304788.1. NM_001317859.1.
NP_077276.2. NM_024300.4. [Q9BUK0-2]
UniGeneiHs.436913.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LQTNMR-A1-85[»]
ProteinModelPortaliQ9BUK0.
SMRiQ9BUK0. Positions 14-85.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122564. 1 interaction.
STRINGi9606.ENSP00000306425.

PTM databases

PhosphoSiteiQ9BUK0.

Polymorphism and mutation databases

BioMutaiCHCHD7.
DMDMi62510507.

Proteomic databases

EPDiQ9BUK0.
MaxQBiQ9BUK0.
PaxDbiQ9BUK0.
PRIDEiQ9BUK0.

Protocols and materials databases

DNASUi79145.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303759; ENSP00000306425; ENSG00000170791. [Q9BUK0-4]
ENST00000355315; ENSP00000347469; ENSG00000170791. [Q9BUK0-1]
ENST00000518801; ENSP00000428274; ENSG00000170791. [Q9BUK0-3]
ENST00000519367; ENSP00000428095; ENSG00000170791. [Q9BUK0-5]
ENST00000521524; ENSP00000430458; ENSG00000170791. [Q9BUK0-3]
ENST00000521831; ENSP00000429635; ENSG00000170791. [Q9BUK0-5]
ENST00000523975; ENSP00000428917; ENSG00000170791. [Q9BUK0-2]
GeneIDi79145.
UCSCiuc003xss.4. human. [Q9BUK0-1]

Organism-specific databases

CTDi79145.
GeneCardsiCHCHD7.
HGNCiHGNC:28314. CHCHD7.
HPAiHPA050783.
MIMi611238. gene.
neXtProtiNX_Q9BUK0.
PharmGKBiPA134883538.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4618. Eukaryota.
ENOG4112B0H. LUCA.
GeneTreeiENSGT00390000001029.
HOGENOMiHOG000008048.
HOVERGENiHBG050939.
InParanoidiQ9BUK0.
OMAiKFWNSIM.
PhylomeDBiQ9BUK0.
TreeFamiTF300284.

Miscellaneous databases

ChiTaRSiCHCHD7. human.
GenomeRNAii79145.
NextBioi35534899.
PROiQ9BUK0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BUK0.
CleanExiHS_CHCHD7.
ExpressionAtlasiQ9BUK0. baseline and differential.
GenevisibleiQ9BUK0. HS.

Family and domain databases

Gene3Di1.10.810.10. 1 hit.
InterProiIPR009069. Cys_alpha_HP_mot_SF.
[Graphical view]
SUPFAMiSSF47072. SSF47072. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Guo J.H., Zan Q., Yu L.
    Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Heart and Subthalamic nucleus.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Placenta.
  6. "CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas."
    Asp J., Persson F., Kost-Alimova M., Stenman G.
    Genes Chromosomes Cancer 45:820-828(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL REARRANGEMENT WITH PLAG1.
  7. "Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins."
    Banci L., Bertini I., Ciofi-Baffoni S., Jaiswal D., Neri S., Peruzzini R., Winkelmann J.
    J. Struct. Biol. 180:190-200(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR, SUBUNIT, PUTATIVE SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, DISULFIDE BONDS.

Entry informationi

Entry nameiCHCH7_HUMAN
AccessioniPrimary (citable) accession number: Q9BUK0
Secondary accession number(s): A8K223
, E9PBH3, J3KNE9, Q7Z588
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: June 1, 2001
Last modified: May 11, 2016
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.