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O43736

- ITM2A_HUMAN

UniProt

O43736 - ITM2A_HUMAN

Protein

Integral membrane protein 2A

Gene

ITM2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Integral membrane protein 2A
    Alternative name(s):
    Protein E25
    Gene namesi
    Name:ITM2A
    ORF Names:UNQ603/PRO1189
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:6173. ITM2A.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti2227. Hypodontia.
    PharmGKBiPA29970.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 263263Integral membrane protein 2APRO_0000154818Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi160 ↔ 219By similarity
    Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiO43736.
    PaxDbiO43736.
    PRIDEiO43736.

    PTM databases

    PhosphoSiteiO43736.

    Expressioni

    Gene expression databases

    BgeeiO43736.
    CleanExiHS_ITM2A.
    GenevestigatoriO43736.

    Organism-specific databases

    HPAiHPA002918.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    APPP05067-43EBI-2431769,EBI-302641

    Protein-protein interaction databases

    BioGridi114841. 2 interactions.
    IntActiO43736. 1 interaction.
    STRINGi9606.ENSP00000362395.

    Structurei

    3D structure databases

    ProteinModelPortaliO43736.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei54 – 7421Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini133 – 22795BRICHOSPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the ITM2 family.Curated
    Contains 1 BRICHOS domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG283703.
    HOGENOMiHOG000231259.
    HOVERGENiHBG059373.
    InParanoidiO43736.
    KOiK18241.
    OMAiPYFLPVT.
    OrthoDBiEOG70KGQD.
    PhylomeDBiO43736.
    TreeFamiTF317770.

    Family and domain databases

    InterProiIPR007084. BRICHOS_dom.
    [Graphical view]
    PfamiPF04089. BRICHOS. 1 hit.
    [Graphical view]
    SMARTiSM01039. BRICHOS. 1 hit.
    [Graphical view]
    PROSITEiPS50869. BRICHOS. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43736-1) [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

    MVKIAFNTPT AVQKEEARQD VEALLSRTVR TQILTGKELR VATQEKEGSS    50
    GRCMLTLLGL SFILAGLIVG GACIYKYFMP KSTIYRGEMC FFDSEDPANS 100
    LRGGEPNFLP VTEEADIRED DNIAIIDVPV PSFSDSDPAA IIHDFEKGMT 150
    AYLDLLLGNC YLMPLNTSIV MPPKNLVELF GKLASGRYLP QTYVVREDLV 200
    AVEEIRDVSN LGIFIYQLCN NRKSFRLRRR DLLLGFNKRA IDKCWKIRHF 250
    PNEFIVETKI CQE 263
    Length:263
    Mass (Da):29,741
    Last modified:July 15, 1999 - v2
    Checksum:iC565E2F80FE223BD
    GO
    Isoform 2 (identifier: O43736-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         37-80: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:219
    Mass (Da):24,994
    Checksum:iA137AFA960AFED48
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti263 – 2631E → D in CAG33156. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721A → V.
    Corresponds to variant rs35056863 [ dbSNP | Ensembl ].
    VAR_034029
    Natural varianti230 – 2301R → T.
    Corresponds to variant rs35629312 [ dbSNP | Ensembl ].
    VAR_034030

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei37 – 8044Missing in isoform 2. 1 PublicationVSP_042562Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF038953 mRNA. Translation: AAC39867.1.
    AY359051 mRNA. Translation: AAQ89410.1.
    AK303238 mRNA. Translation: BAG64324.1.
    AK313154 mRNA. Translation: BAG35972.1.
    CR456875 mRNA. Translation: CAG33156.1.
    AL009028, AL021786 Genomic DNA. Translation: CAI42363.1.
    AL021786, AL009028 Genomic DNA. Translation: CAI43020.1.
    CH471104 Genomic DNA. Translation: EAW98591.1.
    BC040437 mRNA. Translation: AAH40437.1.
    CCDSiCCDS14444.1. [O43736-1]
    CCDS55455.1. [O43736-2]
    RefSeqiNP_001165052.1. NM_001171581.1. [O43736-2]
    NP_004858.1. NM_004867.4. [O43736-1]
    UniGeneiHs.17109.
    Hs.694944.

    Genome annotation databases

    EnsembliENST00000373298; ENSP00000362395; ENSG00000078596. [O43736-1]
    ENST00000434584; ENSP00000415533; ENSG00000078596. [O43736-2]
    GeneIDi9452.
    KEGGihsa:9452.
    UCSCiuc004edh.3. human. [O43736-1]
    uc011mqr.2. human. [O43736-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF038953 mRNA. Translation: AAC39867.1 .
    AY359051 mRNA. Translation: AAQ89410.1 .
    AK303238 mRNA. Translation: BAG64324.1 .
    AK313154 mRNA. Translation: BAG35972.1 .
    CR456875 mRNA. Translation: CAG33156.1 .
    AL009028 , AL021786 Genomic DNA. Translation: CAI42363.1 .
    AL021786 , AL009028 Genomic DNA. Translation: CAI43020.1 .
    CH471104 Genomic DNA. Translation: EAW98591.1 .
    BC040437 mRNA. Translation: AAH40437.1 .
    CCDSi CCDS14444.1. [O43736-1 ]
    CCDS55455.1. [O43736-2 ]
    RefSeqi NP_001165052.1. NM_001171581.1. [O43736-2 ]
    NP_004858.1. NM_004867.4. [O43736-1 ]
    UniGenei Hs.17109.
    Hs.694944.

    3D structure databases

    ProteinModelPortali O43736.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114841. 2 interactions.
    IntActi O43736. 1 interaction.
    STRINGi 9606.ENSP00000362395.

    PTM databases

    PhosphoSitei O43736.

    Proteomic databases

    MaxQBi O43736.
    PaxDbi O43736.
    PRIDEi O43736.

    Protocols and materials databases

    DNASUi 9452.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373298 ; ENSP00000362395 ; ENSG00000078596 . [O43736-1 ]
    ENST00000434584 ; ENSP00000415533 ; ENSG00000078596 . [O43736-2 ]
    GeneIDi 9452.
    KEGGi hsa:9452.
    UCSCi uc004edh.3. human. [O43736-1 ]
    uc011mqr.2. human. [O43736-2 ]

    Organism-specific databases

    CTDi 9452.
    GeneCardsi GC0XM078615.
    HGNCi HGNC:6173. ITM2A.
    HPAi HPA002918.
    MIMi 300222. gene.
    neXtProti NX_O43736.
    Orphaneti 2227. Hypodontia.
    PharmGKBi PA29970.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG283703.
    HOGENOMi HOG000231259.
    HOVERGENi HBG059373.
    InParanoidi O43736.
    KOi K18241.
    OMAi PYFLPVT.
    OrthoDBi EOG70KGQD.
    PhylomeDBi O43736.
    TreeFami TF317770.

    Miscellaneous databases

    GeneWikii ITM2A.
    GenomeRNAii 9452.
    NextBioi 35408.
    PROi O43736.
    SOURCEi Search...

    Gene expression databases

    Bgeei O43736.
    CleanExi HS_ITM2A.
    Genevestigatori O43736.

    Family and domain databases

    InterProi IPR007084. BRICHOS_dom.
    [Graphical view ]
    Pfami PF04089. BRICHOS. 1 hit.
    [Graphical view ]
    SMARTi SM01039. BRICHOS. 1 hit.
    [Graphical view ]
    PROSITEi PS50869. BRICHOS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
      Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z.
      Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "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: Brain and Thymus.
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORM 1).
      Tissue: Pancreas.

    Entry informationi

    Entry nameiITM2A_HUMAN
    AccessioniPrimary (citable) accession number: O43736
    Secondary accession number(s): B2R7X5, B4E062, Q6IBC9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 124 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 X
      Human chromosome X: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3