Q9GZT6 (CC90B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 90B, mitochondrial

Gene names

Name:	CCDC90B
ORF Names:	CUA003, MDS011, MDS025

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	254 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Mitochondrion. Membrane; Single-pass membrane protein Potential Ref.7.
Sequence similarities	Belongs to the CCDC90 family.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Transit peptide Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrion Inferred from direct assay. Source: LIFEdb
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9GZT6-1)

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: Q9GZT6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MNSRQAWRLFLSQGRGDRWVSRPRGHFSPALRR → MLANCGSVCEETQFRGTTVAPALG

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 42	42	Mitochondrion Potential
	Chain	43 – 254	212	Coiled-coil domain-containing protein 90B, mitochondrial		PRO_0000295695
Regions
	Transmembrane	231 – 253	23	Helical; Potential
	Coiled coil	129 – 164	36	Potential
Natural variations
	Alternative sequence	1 – 33	33	MNSRQ…PALRR → MLANCGSVCEETQFRGTTVA PALG in isoform 2.		VSP_027003
	Natural variant	10	1	F → L. Ref.2 Ref.4 Corresponds to variant rs494791 [ dbSNP | Ensembl ].		VAR_033322

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 20, 2010. Version 2. Checksum: 773DB2E66AB6C921	FASTA	254	29,506
	10 20 30 40 50 60 MNSRQAWRLF LSQGRGDRWV SRPRGHFSPA LRREFFTTTT KEGYDRRPVD ITPLEQRKLT 70 80 90 100 110 120 FDTHALVQDL ETHGFDKTQA ETIVSALTAL SNVSLDTIYK EMVTQAQQEI TVQQLMAHLD 130 140 150 160 170 180 AIRKDMVILE KSEFANLRAE NEKMKIELDQ VKQQLMHETS RIRADNKLDI NLERSRVTDM 190 200 210 220 230 240 FTDQEKQLME TTTEFTKKDT QTKSIISETS NKIDAEIASL KTLMESNKLE TIRYLAASVF 250 TCLAIALGFY RFWK
	Isoform 2 [UniParc]. Checksum: F24AE980B00734B4	FASTA	245	27,979
	10 20 30 40 50 60 MLANCGSVCE ETQFRGTTVA PALGEFFTTT TKEGYDRRPV DITPLEQRKL TFDTHALVQD 70 80 90 100 110 120 LETHGFDKTQ AETIVSALTA LSNVSLDTIY KEMVTQAQQE ITVQQLMAHL DAIRKDMVIL 130 140 150 160 170 180 EKSEFANLRA ENEKMKIELD QVKQQLMHET SRIRADNKLD INLERSRVTD MFTDQEKQLM 190 200 210 220 230 240 ETTTEFTKKD TQTKSIISET SNKIDAEIAS LKTLMESNKL ETIRYLAASV FTCLAIALGF YRFWK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[2]	"Novel genes expressed in hematopoietic stem/progenitor cells from Myelodysplastic syndromes patient." Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-10.
[3]	Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Adrenal tumor.
[4]	"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), VARIANT LEU-10. Tissue: Testis and Uterus.
[5]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] (ISOFORMS 1 AND 2). Tissue: Testis and Urinary bladder.
[7]	"Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing." Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S. EMBO Rep. 1:287-292(2000) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136791 mRNA. Translation: CAB66725.1. AF182412 mRNA. Translation: AAG14948.1. AF182424 mRNA. Translation: AAG14960.1. AF271782 mRNA. Translation: AAG44793.1. AK292349 mRNA. Translation: BAF85038.1. AK304769 mRNA. Translation: BAG65524.1. AP000873 Genomic DNA. No translation available. BC014573 mRNA. Translation: AAH14573.1. BC020783 mRNA. Translation: AAH20783.1. BC107755 mRNA. Translation: AAI07756.1.
IPI	IPI00549236. IPI00854851.
RefSeq	NP_068597.2. NM_021825.3.
UniGene	Hs.368866.
3D structure databases
ProteinModelPortal	Q9GZT6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9GZT6. 28 interactions.
MINT	MINT-1381437.
STRING	9606.ENSP00000260054.
PTM databases
PhosphoSite	Q9GZT6.
Polymorphism databases
DMDM	294862420.
Proteomic databases
PaxDb	Q9GZT6.
PRIDE	Q9GZT6.
Protocols and materials databases
DNASU	60492.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000455220; ENSP00000390990; ENSG00000137500. ENST00000529689; ENSP00000434724; ENSG00000137500.
GeneID	60492.
KEGG	hsa:60492.
UCSC	uc001pac.3. human. uc001paf.3. human.
Organism-specific databases
CTD	60492.
GeneCards	GC11M082972.
H-InvDB	HIX0009991.
HGNC	HGNC:28108. CCDC90B.
HPA	HPA011130. HPA011931.
neXtProt	NX_Q9GZT6.
PharmGKB	PA162381967.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG297085.
HOGENOM	HOG000294135.
HOVERGEN	HBG107611.
InParanoid	Q9GZT6.
OMA	AASVFTC.
PhylomeDB	Q9GZT6.
Gene expression databases
ArrayExpress	Q9GZT6.
Bgee	Q9GZT6.
CleanEx	HS_CCDC90B.
Genevestigator	Q9GZT6.
Family and domain databases
InterPro	IPR012439. Coiled-coil-containing_90. IPR024461. DUF1640. [Graphical view]
PANTHER	PTHR14360:SF1. PTHR14360:SF1. 1 hit.
Pfam	PF07798. DUF1640. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CCDC90B. human.
GenomeRNAi	60492.
NextBio	65387.

Entry information

Entry name

CC90B_HUMAN

Accession

Primary (citable) accession number: Q9GZT6
Secondary accession number(s): A8K8I4 , B4E3L2, Q3B781, Q9GZU6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	April 20, 2010
Last modified:	April 3, 2013
This is version 79 of the entry and version 2 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.