Q9BUK0 (CHCH7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 7

Gene names

Name:

CHCHD7

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	85 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Monomer. Ref.7
Subcellular location	Mitochondrion intermembrane space Potential Ref.7.
Involvement in disease	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.
Sequence similarities	Belongs to the CHCHD7 family. Contains 1 CHCH domain.
Sequence caution	The sequence EAW86776.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
PTM	Disulfide bond
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrial intermembrane space Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BUK0-1)

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.

Isoform 2 (identifier: Q9BUK0-2)

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

Isoform 3 (identifier: Q9BUK0-3)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 85

85

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

PRO_0000129171

Regions

Domain

14 – 50

37

CHCH

Amino acid modifications

Disulfide bond

16 ↔ 47

Ref.7

Disulfide bond

26 ↔ 37

Ref.7

Natural variations

Alternative sequence

1

1

M → MHQTRTGKKTVRM in isoform 2 and isoform 3.

VSP_038076

Alternative sequence

19 – 85

67

ESDAS…GNMPY → ILFYLLNDASLISVRNLMLP PDVWMKITMTGKGVPLTS in isoform 3.

VSP_038077

Secondary structure

1

.

.

.

.

.

.

.

.

.

85

Helix Strand Turn

Details...

Helix

17 – 29

13

Turn

30 – 32

3

Turn

34 – 37

4

Helix

38 – 59

22

Helix

70 – 80

11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 957C3727AB9B3C8C	FASTA	85	10,095
	10 20 30 40 50 60 MPSVTQRLRD PDINPCLSES DASTRCLDEN NYDRERCSTY FLRYKNCRRF WNSIVMQRRK 70 80 NGVKPFMPTA AERDEILRAV GNMPY
	Isoform 2 [UniParc]. Checksum: 468FD363008C4E27	FASTA	97	11,520
	10 20 30 40 50 60 MHQTRTGKKT VRMPSVTQRL RDPDINPCLS ESDASTRCLD ENNYDRERCS TYFLRYKNCR 70 80 90 RFWNSIVMQR RKNGVKPFMP TAAERDEILR AVGNMPY
	Isoform 3 [UniParc]. Checksum: 053B3E625CD23E45	FASTA	68	7,698
	10 20 30 40 50 60 MHQTRTGKKT VRMPSVTQRL RDPDINPCLS ILFYLLNDAS LISVRNLMLP PDVWMKITMT GKGVPLTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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 MASS SPECTROMETRY, DISULFIDE BONDS.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.
BC002546 mRNA. Translation: AAH02546.2.

IPI

IPI00013279.
IPI00385204.
IPI00604730.

RefSeq

NP_001011667.1. NM_001011667.1.
NP_001011668.1. NM_001011668.1.
NP_001011669.1. NM_001011669.1.
NP_001011670.1. NM_001011670.1.
NP_001011671.1. NM_001011671.1.
NP_077276.2. NM_024300.3.

UniGene

Hs.436913.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2LQT	NMR	-	A	1-85	[»]

ProteinModelPortal

Q9BUK0.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000306425.

PTM databases

PhosphoSite

Q9BUK0.

Polymorphism databases

DMDM

62510507.

Proteomic databases

PaxDb

Q9BUK0.

PRIDE

Q9BUK0.

Protocols and materials databases

DNASU

79145.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000355315; ENSP00000347469; ENSG00000170791.
ENST00000518801; ENSP00000428274; ENSG00000170791.
ENST00000521524; ENSP00000430458; ENSG00000170791.
ENST00000523975; ENSP00000428917; ENSG00000170791.

GeneID

79145.

KEGG

hsa:79145.

UCSC

uc003xss.3. human.
uc003xsu.3. human.
uc003xsx.3. human.

Organism-specific databases

CTD

79145.

GeneCards

GC08P057124.

HGNC

HGNC:28314. CHCHD7.

HPA

HPA050783.

MIM

611238. gene.

neXtProt

NX_Q9BUK0.

PharmGKB

PA134883538.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG249634.

HOGENOM

HOG000008048.

HOVERGEN

HBG050939.

InParanoid

Q9BUK0.

OrthoDB

EOG43R3P4.

Gene expression databases

ArrayExpress

Q9BUK0.

Bgee

Q9BUK0.

CleanEx

HS_CHCHD7.

Genevestigator

Q9BUK0.

GermOnline

ENSG00000170791. Homo sapiens.

Family and domain databases

Gene3D

1.10.810.10. 1 hit.

InterPro

IPR009069. Cys_alpha_HP_mot_SF.
[Graphical view]

SUPFAM

SSF47072. MTCP1. 1 hit.

ProtoNet

Search...

Other

ChiTaRS

CHCHD7. human.

GenomeRNAi

79145.

NextBio

68037.

SOURCE

Search...

Entry information

Entry name

CHCH7_HUMAN

Accession

Primary (citable) accession number: Q9BUK0
Secondary accession number(s): A8K223, Q7Z588

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 12, 2005
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.