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Q8N6I4

- TM251_HUMAN

UniProt

Q8N6I4 - TM251_HUMAN

Protein

Transmembrane protein 251

Gene

TMEM251

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
  1. Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 251
    Gene namesi
    Name:TMEM251
    Synonyms:C14orf109
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20218. TMEM251.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134977710.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 163163Transmembrane protein 251PRO_0000089916Add
    BLAST

    Proteomic databases

    MaxQBiQ8N6I4.
    PaxDbiQ8N6I4.
    PRIDEiQ8N6I4.

    Expressioni

    Gene expression databases

    BgeeiQ8N6I4.
    CleanExiHS_C14orf109.
    GenevestigatoriQ8N6I4.

    Organism-specific databases

    HPAiHPA048559.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000388431.

    Structurei

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei40 – 6021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei98 – 11821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM251 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47941.
    HOGENOMiHOG000111822.
    HOVERGENiHBG058826.
    InParanoidiQ8N6I4.
    OMAiRAWRMMN.
    OrthoDBiEOG75MVZ2.
    PhylomeDBiQ8N6I4.
    TreeFamiTF332722.

    Family and domain databases

    InterProiIPR028024. TMEM251.
    [Graphical view]
    PfamiPF15190. DUF4583. 1 hit.
    [Graphical view]
    ProDomiPD641273. PD641273. 1 hit.
    [Graphical view] [Entries sharing at least one domain]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N6I4-1) [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

    MPKPPDYSEL SDSLTLAVGT GRFSGPLHRA WRMMNFRQRM GWIGVGLYLL    50
    ASAAAFYYVF EISETYNRLA LEHIQQHPEE PLEGTTWTHS LKAQLLSLPF 100
    WVWTVIFLVP YLQMFLFLYS CTRADPKTVG YCIIPICLAV ICNRHQAFVK 150
    ASNQISRLQL IDT 163
    Length:163
    Mass (Da):18,747
    Last modified:January 20, 2009 - v4
    Checksum:i805D11CD73B20650
    GO
    Isoform 2 (identifier: Q8N6I4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-32: Missing.

    Show »
    Length:131
    Mass (Da):15,222
    Checksum:iAB25FB43AAFD72CC
    GO
    Isoform 3 (identifier: Q8N6I4-3) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:169
    Mass (Da):19,426
    Checksum:iACC354A94E11790A
    GO

    Sequence cautioni

    The sequence AAH30119.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti152 – 1532SN → FY in BM554490. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3232Missing in isoform 2. 2 PublicationsVSP_036175Add
    BLAST
    Alternative sequencei1 – 11M → MLAFSEM in isoform 3. 1 PublicationVSP_045689

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL080118 mRNA. Translation: CAB45717.2.
    AL110118 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81518.1.
    BC030119 mRNA. Translation: AAH30119.2. Different initiation.
    BM554490 mRNA. No translation available.
    CX785861 mRNA. No translation available.
    CCDSiCCDS41980.1. [Q8N6I4-2]
    CCDS45158.1. [Q8N6I4-3]
    PIRiT12454.
    RefSeqiNP_001092091.1. NM_001098621.1. [Q8N6I4-3]
    NP_056491.1. NM_015676.1. [Q8N6I4-2]
    UniGeneiHs.275352.
    Hs.648806.

    Genome annotation databases

    EnsembliENST00000283534; ENSP00000283534; ENSG00000153485. [Q8N6I4-2]
    ENST00000415050; ENSP00000388431; ENSG00000153485. [Q8N6I4-3]
    GeneIDi26175.
    KEGGihsa:26175.
    UCSCiuc001ybk.4. human. [Q8N6I4-1]
    uc010auo.3. human.

    Polymorphism databases

    DMDMi221222535.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL080118 mRNA. Translation: CAB45717.2 .
    AL110118 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81518.1 .
    BC030119 mRNA. Translation: AAH30119.2 . Different initiation.
    BM554490 mRNA. No translation available.
    CX785861 mRNA. No translation available.
    CCDSi CCDS41980.1. [Q8N6I4-2 ]
    CCDS45158.1. [Q8N6I4-3 ]
    PIRi T12454.
    RefSeqi NP_001092091.1. NM_001098621.1. [Q8N6I4-3 ]
    NP_056491.1. NM_015676.1. [Q8N6I4-2 ]
    UniGenei Hs.275352.
    Hs.648806.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000388431.

    Polymorphism databases

    DMDMi 221222535.

    Proteomic databases

    MaxQBi Q8N6I4.
    PaxDbi Q8N6I4.
    PRIDEi Q8N6I4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000283534 ; ENSP00000283534 ; ENSG00000153485 . [Q8N6I4-2 ]
    ENST00000415050 ; ENSP00000388431 ; ENSG00000153485 . [Q8N6I4-3 ]
    GeneIDi 26175.
    KEGGi hsa:26175.
    UCSCi uc001ybk.4. human. [Q8N6I4-1 ]
    uc010auo.3. human.

    Organism-specific databases

    CTDi 26175.
    GeneCardsi GC14P093653.
    H-InvDB HIX0011913.
    HGNCi HGNC:20218. TMEM251.
    HPAi HPA048559.
    neXtProti NX_Q8N6I4.
    PharmGKBi PA134977710.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47941.
    HOGENOMi HOG000111822.
    HOVERGENi HBG058826.
    InParanoidi Q8N6I4.
    OMAi RAWRMMN.
    OrthoDBi EOG75MVZ2.
    PhylomeDBi Q8N6I4.
    TreeFami TF332722.

    Miscellaneous databases

    GenomeRNAii 26175.
    NextBioi 35535280.
    PROi Q8N6I4.

    Gene expression databases

    Bgeei Q8N6I4.
    CleanExi HS_C14orf109.
    Genevestigatori Q8N6I4.

    Family and domain databases

    InterProi IPR028024. TMEM251.
    [Graphical view ]
    Pfami PF15190. DUF4583. 1 hit.
    [Graphical view ]
    ProDomi PD641273. PD641273. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Embryonic brain.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-149 (ISOFORM 1).
      Tissue: Brain and Melanoma.

    Entry informationi

    Entry nameiTM251_HUMAN
    AccessioniPrimary (citable) accession number: Q8N6I4
    Secondary accession number(s): J3KQ65, Q9Y4S5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2005
    Last sequence update: January 20, 2009
    Last modified: October 1, 2014
    This is version 89 of the entry and version 4 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 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3