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Q9H019

- MFR1L_HUMAN

UniProt

Q9H019 - MFR1L_HUMAN

Protein

Mitochondrial fission regulator 1-like

Gene

MTFR1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 2 (10 Jun 2008)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial fission regulator 1-like
    Gene namesi
    Name:MTFR1L
    Synonyms:FAM54B
    ORF Names:HYST1888, MSTP116
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28836. MTFR1L.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671888.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 292292Mitochondrial fission regulator 1-likePRO_0000341566Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei103 – 1031PhosphoserineBy similarity
    Modified residuei238 – 2381Phosphoserine2 Publications
    Modified residuei261 – 2611Phosphoserine1 Publication
    Modified residuei273 – 2731Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9H019.
    PaxDbiQ9H019.
    PRIDEiQ9H019.

    PTM databases

    PhosphoSiteiQ9H019.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H019.
    BgeeiQ9H019.
    CleanExiHS_FAM54B.
    GenevestigatoriQ9H019.

    Organism-specific databases

    HPAiHPA027124.
    HPA027130.

    Interactioni

    Protein-protein interaction databases

    BioGridi121106. 1 interaction.
    IntActiQ9H019. 1 interaction.
    MINTiMINT-4716779.
    STRINGi9606.ENSP00000363418.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H019.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MTFR1 family.Curated

    Phylogenomic databases

    eggNOGiNOG41842.
    HOVERGENiHBG103166.
    OMAiKPEHKAT.
    PhylomeDBiQ9H019.
    TreeFamiTF331404.

    Family and domain databases

    InterProiIPR007972. Mtfr1.
    [Graphical view]
    PANTHERiPTHR14215. PTHR14215. 1 hit.
    PfamiPF05308. Mito_fiss_reg. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H019-1) [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

    MSGMEATVTI PIWQNKPHGA ARSVVRRIGT NLPLKPCARA SFETLPNISD    50
    LCLRDVPPVP TLADIAWIAA DEEETYARVR SDTRPLRHTW KPSPLIVMQR 100
    NASVPNLRGS EERLLALKKP ALPALSRTTE LQDELSHLRS QIAKIVAADA 150
    ASASLTPDFL SPGSSNVSSP LPCFGSSFHS TTSFVISDIT EETEVEVPEL 200
    PSVPLLCSAS PECCKPEHKA ACSSSEEDDC VSLSKASSFA DMMGILKDFH 250
    RMKQSQDLNR SLLKEEDPAV LISEVLRRKF ALKEEDISRK GN 292
    Length:292
    Mass (Da):31,957
    Last modified:June 10, 2008 - v2
    Checksum:i39B23825CA1638EF
    GO
    Isoform 2 (identifier: Q9H019-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         151-292: ASASLTPDFL...KEEDISRKGN → VTSPRRQRWR...LCPRPAALQT

    Show »
    Length:205
    Mass (Da):22,772
    Checksum:i307148C880E5ED61
    GO
    Isoform 3 (identifier: Q9H019-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         151-162: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:280
    Mass (Da):30,770
    Checksum:i77632C8F0CB0A11F
    GO

    Sequence cautioni

    The sequence AAQ13638.1 differs from that shown. Reason: Frameshift at positions 7 and 49.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti87 – 871R → W in CAC21683. (PubMed:17974005)Curated
    Sequence conflicti136 – 1361S → G in CAC21683. (PubMed:17974005)Curated
    Sequence conflicti273 – 2731S → T in CAC21683. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581P → S.
    Corresponds to variant rs35448678 [ dbSNP | Ensembl ].
    VAR_044084

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei151 – 292142ASASL…SRKGN → VTSPRRQRWRSLSFHQSPCF VLPALNVANQNTKLPAVRLK RMTASLCPRPAALQT in isoform 2. 2 PublicationsVSP_034338Add
    BLAST
    Alternative sequencei151 – 16212Missing in isoform 3. 1 PublicationVSP_034339Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF173891 mRNA. Translation: AAQ13638.1. Frameshift.
    AB075880 mRNA. Translation: BAD38662.1.
    AK290744 mRNA. Translation: BAF83433.1.
    AL512766 mRNA. Translation: CAC21683.1.
    BX647921 mRNA. Translation: CAH56194.1.
    AL020996 Genomic DNA. No translation available.
    CH471059 Genomic DNA. Translation: EAX07865.1.
    CH471059 Genomic DNA. Translation: EAX07866.1.
    CH471059 Genomic DNA. Translation: EAX07868.1.
    BC017175 mRNA. Translation: AAH17175.1.
    CCDSiCCDS41284.1. [Q9H019-1]
    CCDS44089.1. [Q9H019-2]
    RefSeqiNP_001093095.1. NM_001099625.1. [Q9H019-1]
    NP_001093096.1. NM_001099626.1. [Q9H019-1]
    NP_001093097.1. NM_001099627.1. [Q9H019-2]
    NP_062457.3. NM_019557.5. [Q9H019-1]
    UniGeneiHs.149305.

    Genome annotation databases

    EnsembliENST00000374300; ENSP00000363418; ENSG00000117640. [Q9H019-1]
    ENST00000374301; ENSP00000363419; ENSG00000117640. [Q9H019-1]
    ENST00000374303; ENSP00000363421; ENSG00000117640. [Q9H019-1]
    ENST00000374307; ENSP00000363426; ENSG00000117640. [Q9H019-3]
    ENST00000466284; ENSP00000434751; ENSG00000117640. [Q9H019-2]
    ENST00000474295; ENSP00000435461; ENSG00000117640. [Q9H019-2]
    GeneIDi56181.
    KEGGihsa:56181.
    UCSCiuc001bkq.4. human. [Q9H019-1]
    uc001bkr.4. human. [Q9H019-2]
    uc009vrz.3. human. [Q9H019-3]

    Polymorphism databases

    DMDMi190359323.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF173891 mRNA. Translation: AAQ13638.1 . Frameshift.
    AB075880 mRNA. Translation: BAD38662.1 .
    AK290744 mRNA. Translation: BAF83433.1 .
    AL512766 mRNA. Translation: CAC21683.1 .
    BX647921 mRNA. Translation: CAH56194.1 .
    AL020996 Genomic DNA. No translation available.
    CH471059 Genomic DNA. Translation: EAX07865.1 .
    CH471059 Genomic DNA. Translation: EAX07866.1 .
    CH471059 Genomic DNA. Translation: EAX07868.1 .
    BC017175 mRNA. Translation: AAH17175.1 .
    CCDSi CCDS41284.1. [Q9H019-1 ]
    CCDS44089.1. [Q9H019-2 ]
    RefSeqi NP_001093095.1. NM_001099625.1. [Q9H019-1 ]
    NP_001093096.1. NM_001099626.1. [Q9H019-1 ]
    NP_001093097.1. NM_001099627.1. [Q9H019-2 ]
    NP_062457.3. NM_019557.5. [Q9H019-1 ]
    UniGenei Hs.149305.

    3D structure databases

    ProteinModelPortali Q9H019.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121106. 1 interaction.
    IntActi Q9H019. 1 interaction.
    MINTi MINT-4716779.
    STRINGi 9606.ENSP00000363418.

    PTM databases

    PhosphoSitei Q9H019.

    Polymorphism databases

    DMDMi 190359323.

    Proteomic databases

    MaxQBi Q9H019.
    PaxDbi Q9H019.
    PRIDEi Q9H019.

    Protocols and materials databases

    DNASUi 56181.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374300 ; ENSP00000363418 ; ENSG00000117640 . [Q9H019-1 ]
    ENST00000374301 ; ENSP00000363419 ; ENSG00000117640 . [Q9H019-1 ]
    ENST00000374303 ; ENSP00000363421 ; ENSG00000117640 . [Q9H019-1 ]
    ENST00000374307 ; ENSP00000363426 ; ENSG00000117640 . [Q9H019-3 ]
    ENST00000466284 ; ENSP00000434751 ; ENSG00000117640 . [Q9H019-2 ]
    ENST00000474295 ; ENSP00000435461 ; ENSG00000117640 . [Q9H019-2 ]
    GeneIDi 56181.
    KEGGi hsa:56181.
    UCSCi uc001bkq.4. human. [Q9H019-1 ]
    uc001bkr.4. human. [Q9H019-2 ]
    uc009vrz.3. human. [Q9H019-3 ]

    Organism-specific databases

    CTDi 56181.
    GeneCardsi GC01P026147.
    H-InvDB HIX0000278.
    HGNCi HGNC:28836. MTFR1L.
    HPAi HPA027124.
    HPA027130.
    neXtProti NX_Q9H019.
    PharmGKBi PA142671888.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41842.
    HOVERGENi HBG103166.
    OMAi KPEHKAT.
    PhylomeDBi Q9H019.
    TreeFami TF331404.

    Miscellaneous databases

    ChiTaRSi FAM54B. human.
    GeneWikii FAM54B.
    GenomeRNAii 56181.
    NextBioi 61830.
    PROi Q9H019.

    Gene expression databases

    ArrayExpressi Q9H019.
    Bgeei Q9H019.
    CleanExi HS_FAM54B.
    Genevestigatori Q9H019.

    Family and domain databases

    InterProi IPR007972. Mtfr1.
    [Graphical view ]
    PANTHERi PTHR14215. PTHR14215. 1 hit.
    Pfami PF05308. Mito_fiss_reg. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Homo sapiens normal heart mRNA MST116."
      Wang X.Y., Gong Q., Qin B.M., Sheng H., Liu Y.Q., Zhao B., Liu B., Zhang Q., Zheng W.Y., Xu H.S., Liu B.H., Hui R.T.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Heart.
    2. "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
      Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
      Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Liver.
    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] (ISOFORM 2).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Cervix.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [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].
      Tissue: Brain.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238 AND SER-273, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMFR1L_HUMAN
    AccessioniPrimary (citable) accession number: Q9H019
    Secondary accession number(s): A6NCB4
    , B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9NUI7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 10, 2008
    Last sequence update: June 10, 2008
    Last modified: October 1, 2014
    This is version 84 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 1
      Human chromosome 1: 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