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Q9GZT6

- CC90B_HUMAN

UniProt

Q9GZT6 - CC90B_HUMAN

Protein

Coiled-coil domain-containing protein 90B, mitochondrial

Gene

CCDC90B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (20 Apr 2010)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 90B, mitochondrial
    Gene namesi
    Name:CCDC90B
    ORF Names:CUA003, MDS011, MDS025
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:28108. CCDC90B.

    Subcellular locationi

    Mitochondrion 1 Publication. Membrane Curated; Single-pass membrane protein Curated

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrion Source: LIFEdb

    Keywords - Cellular componenti

    Membrane, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162381967.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4242MitochondrionSequence AnalysisAdd
    BLAST
    Chaini43 – 254212Coiled-coil domain-containing protein 90B, mitochondrialPRO_0000295695Add
    BLAST

    Proteomic databases

    MaxQBiQ9GZT6.
    PaxDbiQ9GZT6.
    PRIDEiQ9GZT6.

    PTM databases

    PhosphoSiteiQ9GZT6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9GZT6.
    BgeeiQ9GZT6.
    CleanExiHS_CCDC90B.
    GenevestigatoriQ9GZT6.

    Organism-specific databases

    HPAiHPA011130.
    HPA011931.

    Interactioni

    Protein-protein interaction databases

    BioGridi121923. 29 interactions.
    IntActiQ9GZT6. 33 interactions.
    MINTiMINT-1381437.
    STRINGi9606.ENSP00000260054.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9GZT6.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei231 – 25323HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili129 – 16436Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC90 family.Curated

    Keywords - Domaini

    Coiled coil, Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG297085.
    HOGENOMiHOG000294135.
    HOVERGENiHBG107611.
    InParanoidiQ9GZT6.
    OMAiQLEQVKF.
    OrthoDBiEOG7SR4NS.
    PhylomeDBiQ9GZT6.
    TreeFamiTF331442.

    Family and domain databases

    InterProiIPR024461. DUF1640.
    [Graphical view]
    PfamiPF07798. DUF1640. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9GZT6-1) [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

    MNSRQAWRLF LSQGRGDRWV SRPRGHFSPA LRREFFTTTT KEGYDRRPVD    50
    ITPLEQRKLT FDTHALVQDL ETHGFDKTQA ETIVSALTAL SNVSLDTIYK 100
    EMVTQAQQEI TVQQLMAHLD AIRKDMVILE KSEFANLRAE NEKMKIELDQ 150
    VKQQLMHETS RIRADNKLDI NLERSRVTDM FTDQEKQLME TTTEFTKKDT 200
    QTKSIISETS NKIDAEIASL KTLMESNKLE TIRYLAASVF TCLAIALGFY 250
    RFWK 254
    Length:254
    Mass (Da):29,506
    Last modified:April 20, 2010 - v2
    Checksum:i773DB2E66AB6C921
    GO
    Isoform 2 (identifier: Q9GZT6-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:245
    Mass (Da):27,979
    Checksum:iF24AE980B00734B4
    GO
    Isoform 3 (identifier: Q9GZT6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-101: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:153
    Mass (Da):17,812
    Checksum:iECAB99D950D543D8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101F → L.2 Publications
    Corresponds to variant rs494791 [ dbSNP | Ensembl ].
    VAR_033322

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 101101Missing in isoform 3. 1 PublicationVSP_055663Add
    BLAST
    Alternative sequencei1 – 3333MNSRQ…PALRR → MLANCGSVCEETQFRGTTVA PALG in isoform 2. 2 PublicationsVSP_027003Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136791 mRNA. Translation: CAB66725.1.
    AF182412 mRNA. Translation: AAG14948.1.
    AF182424 mRNA. Translation: AAG14960.1.
    AF271782 mRNA. Translation: AAG44793.1.
    AK055972 mRNA. Translation: BAG51599.1.
    AK292349 mRNA. Translation: BAF85038.1.
    AK304769 mRNA. Translation: BAG65524.1.
    AP000873 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW75089.1.
    CH471076 Genomic DNA. Translation: EAW75091.1.
    BC014573 mRNA. Translation: AAH14573.1.
    BC020783 mRNA. Translation: AAH20783.1.
    BC107755 mRNA. Translation: AAI07756.1.
    CCDSiCCDS66191.1. [Q9GZT6-2]
    CCDS8266.1. [Q9GZT6-1]
    RefSeqiNP_001273045.1. NM_001286116.1. [Q9GZT6-2]
    NP_001273046.1. NM_001286117.1.
    NP_001273047.1. NM_001286118.1.
    NP_001273048.1. NM_001286119.1.
    NP_001273049.1. NM_001286120.1.
    NP_068597.2. NM_021825.4. [Q9GZT6-1]
    UniGeneiHs.368866.

    Genome annotation databases

    EnsembliENST00000455220; ENSP00000390990; ENSG00000137500. [Q9GZT6-2]
    ENST00000525503; ENSP00000431424; ENSG00000137500. [Q9GZT6-3]
    ENST00000529611; ENSP00000431345; ENSG00000137500. [Q9GZT6-3]
    ENST00000529689; ENSP00000434724; ENSG00000137500. [Q9GZT6-1]
    GeneIDi60492.
    KEGGihsa:60492.
    UCSCiuc001pac.3. human. [Q9GZT6-1]
    uc001paf.3. human. [Q9GZT6-2]

    Polymorphism databases

    DMDMi294862420.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136791 mRNA. Translation: CAB66725.1 .
    AF182412 mRNA. Translation: AAG14948.1 .
    AF182424 mRNA. Translation: AAG14960.1 .
    AF271782 mRNA. Translation: AAG44793.1 .
    AK055972 mRNA. Translation: BAG51599.1 .
    AK292349 mRNA. Translation: BAF85038.1 .
    AK304769 mRNA. Translation: BAG65524.1 .
    AP000873 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW75089.1 .
    CH471076 Genomic DNA. Translation: EAW75091.1 .
    BC014573 mRNA. Translation: AAH14573.1 .
    BC020783 mRNA. Translation: AAH20783.1 .
    BC107755 mRNA. Translation: AAI07756.1 .
    CCDSi CCDS66191.1. [Q9GZT6-2 ]
    CCDS8266.1. [Q9GZT6-1 ]
    RefSeqi NP_001273045.1. NM_001286116.1. [Q9GZT6-2 ]
    NP_001273046.1. NM_001286117.1.
    NP_001273047.1. NM_001286118.1.
    NP_001273048.1. NM_001286119.1.
    NP_001273049.1. NM_001286120.1.
    NP_068597.2. NM_021825.4. [Q9GZT6-1 ]
    UniGenei Hs.368866.

    3D structure databases

    ProteinModelPortali Q9GZT6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121923. 29 interactions.
    IntActi Q9GZT6. 33 interactions.
    MINTi MINT-1381437.
    STRINGi 9606.ENSP00000260054.

    PTM databases

    PhosphoSitei Q9GZT6.

    Polymorphism databases

    DMDMi 294862420.

    Proteomic databases

    MaxQBi Q9GZT6.
    PaxDbi Q9GZT6.
    PRIDEi Q9GZT6.

    Protocols and materials databases

    DNASUi 60492.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000455220 ; ENSP00000390990 ; ENSG00000137500 . [Q9GZT6-2 ]
    ENST00000525503 ; ENSP00000431424 ; ENSG00000137500 . [Q9GZT6-3 ]
    ENST00000529611 ; ENSP00000431345 ; ENSG00000137500 . [Q9GZT6-3 ]
    ENST00000529689 ; ENSP00000434724 ; ENSG00000137500 . [Q9GZT6-1 ]
    GeneIDi 60492.
    KEGGi hsa:60492.
    UCSCi uc001pac.3. human. [Q9GZT6-1 ]
    uc001paf.3. human. [Q9GZT6-2 ]

    Organism-specific databases

    CTDi 60492.
    GeneCardsi GC11M082972.
    H-InvDB HIX0009991.
    HGNCi HGNC:28108. CCDC90B.
    HPAi HPA011130.
    HPA011931.
    neXtProti NX_Q9GZT6.
    PharmGKBi PA162381967.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297085.
    HOGENOMi HOG000294135.
    HOVERGENi HBG107611.
    InParanoidi Q9GZT6.
    OMAi QLEQVKF.
    OrthoDBi EOG7SR4NS.
    PhylomeDBi Q9GZT6.
    TreeFami TF331442.

    Miscellaneous databases

    ChiTaRSi CCDC90B. human.
    GeneWikii CCDC90B.
    GenomeRNAii 60492.
    NextBioi 65387.
    PROi Q9GZT6.

    Gene expression databases

    ArrayExpressi Q9GZT6.
    Bgeei Q9GZT6.
    CleanExi HS_CCDC90B.
    Genevestigatori Q9GZT6.

    Family and domain databases

    InterProi IPR024461. DUF1640.
    [Graphical view ]
    Pfami PF07798. DUF1640. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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; 2 AND 3), VARIANT LEU-10.
      Tissue: Testis and Uterus.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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.
    8. "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.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCC90B_HUMAN
    AccessioniPrimary (citable) accession number: Q9GZT6
    Secondary accession number(s): A8K8I4
    , B3KP87, B4E3L2, Q3B781, Q9GZU6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: April 20, 2010
    Last modified: October 1, 2014
    This is version 90 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3