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Q86X76

- NIT1_HUMAN

UniProt

Q86X76 - NIT1_HUMAN

Protein

Nitrilase homolog 1

Gene

NIT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (31 Aug 2004)
      Previous versions | rss
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    Functioni

    Plays a role in cell growth and apoptosis: loss of expression promotes cell growth and resistance to DNA damage stress. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells. Has apparently no omega-amidase activity such as NIT2 By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei86 – 861Proton acceptorPROSITE-ProRule annotation
    Active sitei161 – 1611Proton donorPROSITE-ProRule annotation
    Active sitei203 – 2031NucleophilePROSITE-ProRule annotation

    GO - Molecular functioni

    1. nitrilase activity Source: ProtInc

    GO - Biological processi

    1. nitrogen compound metabolic process Source: InterPro

    Keywords - Molecular functioni

    Hydrolase

    Enzyme and pathway databases

    BRENDAi3.5.5.1. 2681.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nitrilase homolog 1 (EC:3.5.-.-)
    Gene namesi
    Name:NIT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:7828. NIT1.

    Subcellular locationi

    Cytoplasm. Mitochondrion By similarity

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. mitochondrion Source: UniProtKB-SubCell
    3. nucleus Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31636.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 327327Nitrilase homolog 1PRO_0000213251Add
    BLAST

    Proteomic databases

    MaxQBiQ86X76.
    PaxDbiQ86X76.
    PRIDEiQ86X76.

    PTM databases

    PhosphoSiteiQ86X76.

    Expressioni

    Tissue specificityi

    Detected in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.1 Publication

    Gene expression databases

    ArrayExpressiQ86X76.
    BgeeiQ86X76.
    CleanExiHS_NIT1.
    GenevestigatoriQ86X76.

    Organism-specific databases

    HPAiHPA006657.

    Interactioni

    Protein-protein interaction databases

    BioGridi110882. 4 interactions.
    IntActiQ86X76. 2 interactions.
    MINTiMINT-1194030.
    STRINGi9606.ENSP00000356988.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86X76.
    SMRiQ86X76. Positions 48-319.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini47 – 320274CN hydrolasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CN hydrolase domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0388.
    HOGENOMiHOG000222700.
    HOVERGENiHBG052628.
    InParanoidiQ86X76.
    KOiK01506.
    OMAiSTPDKEQ.
    OrthoDBiEOG7XDBGD.
    PhylomeDBiQ86X76.
    TreeFamiTF313080.

    Family and domain databases

    Gene3Di3.60.110.10. 1 hit.
    InterProiIPR003010. C-N_Hydrolase.
    IPR001110. UPF0012_CS.
    [Graphical view]
    PfamiPF00795. CN_hydrolase. 1 hit.
    [Graphical view]
    SUPFAMiSSF56317. SSF56317. 1 hit.
    PROSITEiPS50263. CN_HYDROLASE. 1 hit.
    PS01227. UPF0012. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 2 (identifier: Q86X76-1) [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

    MLGFITRPPH RFLSLLCPGL RIPQLSVLCA QPRPRAMAIS SSSCELPLVA    50
    VCQVTSTPDK QQNFKTCAEL VREAARLGAC LAFLPEAFDF IARDPAETLH 100
    LSEPLGGKLL EEYTQLAREC GLWLSLGGFH ERGQDWEQTQ KIYNCHVLLN 150
    SKGAVVATYR KTHLCDVEIP GQGPMCESNS TMPGPSLESP VSTPAGKIGL 200
    AVCYDMRFPE LSLALAQAGA EILTYPSAFG SITGPAHWEV LLRARAIETQ 250
    CYVVAAAQCG RHHEKRASYG HSMVVDPWGT VVARCSEGPG LCLARIDLNY 300
    LRQLRRHLPV FQHRRPDLYG NLGHPLS 327

    Note: Major isoform.

    Length:327
    Mass (Da):35,896
    Last modified:August 31, 2004 - v2
    Checksum:i90F7FB9D4BA627B1
    GO
    Isoform 1 (identifier: Q86X76-2) [UniParc]FASTAAdd to Basket

    Also known as: 3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-36: Missing.

    Show »
    Length:291
    Mass (Da):31,859
    Checksum:i314677E205F7ADDE
    GO
    Isoform 4 (identifier: Q86X76-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-31: MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQ → MVLAISSCWA...PGRTYSLSRR
         327-327: S → SDLTSVSLDLPLPPPPCHYELVLM

    Show »
    Length:367
    Mass (Da):40,200
    Checksum:i178F0C4BBFE65D25
    GO
    Isoform 5 (identifier: Q86X76-4) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:312
    Mass (Da):34,323
    Checksum:iA0BFFE4B76D24EE0
    GO
    Isoform 6 (identifier: Q86X76-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         240-243: VLLR → PVSS
         244-327: Missing.

    Note: Based on a naturally occurring readthrough transcript which produces a NIT1-DEDD fusion protein. The last 4 amino acids of this isoform (PVSS) are encoded by the last DEDD exon. No experimental confirmation available.

    Show »
    Length:243
    Mass (Da):26,326
    Checksum:i283B9E8D6A4EF67D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti79 – 791A → P in AAH46149. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3636Missing in isoform 1. 1 PublicationVSP_011546Add
    BLAST
    Alternative sequencei1 – 3333MLGFI…CAQPR → MTFGLRKRLSEERGFSLM in isoform 5. 1 PublicationVSP_011545Add
    BLAST
    Alternative sequencei1 – 3131MLGFI…VLCAQ → MVLAISSCWASSPGLLTDSC PFCVLDSGYLNSQYFVLSPG RTYSLSRR in isoform 4. 1 PublicationVSP_011544Add
    BLAST
    Alternative sequencei240 – 2434VLLR → PVSS in isoform 6. 1 PublicationVSP_053711
    Alternative sequencei244 – 32784Missing in isoform 6. 1 PublicationVSP_053712Add
    BLAST
    Alternative sequencei327 – 3271S → SDLTSVSLDLPLPPPPCHYE LVLM in isoform 4. 1 PublicationVSP_011547

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF069984 Genomic DNA. Translation: AAC39901.1.
    AF069987 mRNA. Translation: AAC39907.1.
    CR541814 mRNA. Translation: CAG46613.1.
    CR541846 mRNA. Translation: CAG46644.1.
    AL591806 Genomic DNA. Translation: CAI15379.1.
    CH471121 Genomic DNA. Translation: EAW52656.1.
    CH471121 Genomic DNA. Translation: EAW52654.1.
    CH471121 Genomic DNA. Translation: EAW52657.1.
    BC046149 mRNA. Translation: AAH46149.1.
    CCDSiCCDS1218.1. [Q86X76-1]
    CCDS53401.1. [Q86X76-5]
    CCDS53402.1. [Q86X76-4]
    CCDS53403.1. [Q86X76-2]
    RefSeqiNP_001172021.1. NM_001185092.1. [Q86X76-5]
    NP_001172022.1. NM_001185093.1. [Q86X76-4]
    NP_001172023.1. NM_001185094.1. [Q86X76-2]
    NP_005591.1. NM_005600.2. [Q86X76-1]
    XP_005245273.1. XM_005245216.2. [Q86X76-2]
    UniGeneiHs.146406.

    Genome annotation databases

    EnsembliENST00000368007; ENSP00000356986; ENSG00000158793. [Q86X76-4]
    ENST00000368008; ENSP00000356987; ENSG00000158793. [Q86X76-5]
    ENST00000368009; ENSP00000356988; ENSG00000158793. [Q86X76-1]
    ENST00000392190; ENSP00000376028; ENSG00000158793. [Q86X76-2]
    GeneIDi4817.
    KEGGihsa:4817.
    UCSCiuc001fxv.2. human. [Q86X76-1]
    uc010pka.2. human. [Q86X76-4]

    Polymorphism databases

    DMDMi51704324.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF069984 Genomic DNA. Translation: AAC39901.1 .
    AF069987 mRNA. Translation: AAC39907.1 .
    CR541814 mRNA. Translation: CAG46613.1 .
    CR541846 mRNA. Translation: CAG46644.1 .
    AL591806 Genomic DNA. Translation: CAI15379.1 .
    CH471121 Genomic DNA. Translation: EAW52656.1 .
    CH471121 Genomic DNA. Translation: EAW52654.1 .
    CH471121 Genomic DNA. Translation: EAW52657.1 .
    BC046149 mRNA. Translation: AAH46149.1 .
    CCDSi CCDS1218.1. [Q86X76-1 ]
    CCDS53401.1. [Q86X76-5 ]
    CCDS53402.1. [Q86X76-4 ]
    CCDS53403.1. [Q86X76-2 ]
    RefSeqi NP_001172021.1. NM_001185092.1. [Q86X76-5 ]
    NP_001172022.1. NM_001185093.1. [Q86X76-4 ]
    NP_001172023.1. NM_001185094.1. [Q86X76-2 ]
    NP_005591.1. NM_005600.2. [Q86X76-1 ]
    XP_005245273.1. XM_005245216.2. [Q86X76-2 ]
    UniGenei Hs.146406.

    3D structure databases

    ProteinModelPortali Q86X76.
    SMRi Q86X76. Positions 48-319.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110882. 4 interactions.
    IntActi Q86X76. 2 interactions.
    MINTi MINT-1194030.
    STRINGi 9606.ENSP00000356988.

    PTM databases

    PhosphoSitei Q86X76.

    Polymorphism databases

    DMDMi 51704324.

    Proteomic databases

    MaxQBi Q86X76.
    PaxDbi Q86X76.
    PRIDEi Q86X76.

    Protocols and materials databases

    DNASUi 4817.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368007 ; ENSP00000356986 ; ENSG00000158793 . [Q86X76-4 ]
    ENST00000368008 ; ENSP00000356987 ; ENSG00000158793 . [Q86X76-5 ]
    ENST00000368009 ; ENSP00000356988 ; ENSG00000158793 . [Q86X76-1 ]
    ENST00000392190 ; ENSP00000376028 ; ENSG00000158793 . [Q86X76-2 ]
    GeneIDi 4817.
    KEGGi hsa:4817.
    UCSCi uc001fxv.2. human. [Q86X76-1 ]
    uc010pka.2. human. [Q86X76-4 ]

    Organism-specific databases

    CTDi 4817.
    GeneCardsi GC01P161087.
    HGNCi HGNC:7828. NIT1.
    HPAi HPA006657.
    MIMi 604618. gene.
    neXtProti NX_Q86X76.
    PharmGKBi PA31636.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0388.
    HOGENOMi HOG000222700.
    HOVERGENi HBG052628.
    InParanoidi Q86X76.
    KOi K01506.
    OMAi STPDKEQ.
    OrthoDBi EOG7XDBGD.
    PhylomeDBi Q86X76.
    TreeFami TF313080.

    Enzyme and pathway databases

    BRENDAi 3.5.5.1. 2681.

    Miscellaneous databases

    GenomeRNAii 4817.
    NextBioi 18562.
    PROi Q86X76.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86X76.
    Bgeei Q86X76.
    CleanExi HS_NIT1.
    Genevestigatori Q86X76.

    Family and domain databases

    Gene3Di 3.60.110.10. 1 hit.
    InterProi IPR003010. C-N_Hydrolase.
    IPR001110. UPF0012_CS.
    [Graphical view ]
    Pfami PF00795. CN_hydrolase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56317. SSF56317. 1 hit.
    PROSITEi PS50263. CN_HYDROLASE. 1 hit.
    PS01227. UPF0012. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nitrilase and Fhit homologs are encoded as fusion proteins in Drosophila melanogaster and Caenorhabditis elegans."
      Pekarsky Y., Campiglio M., Siprashvili Z., Druck T., Sedkov Y., Tillib S., Draganescu A., Wermuth P., Rothman J.H., Huebner K., Buchberg A.M., Mazo A., Brenner C., Croce C.M.
      Proc. Natl. Acad. Sci. U.S.A. 95:8744-8749(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 4 AND 5), TISSUE SPECIFICITY.
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "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].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 6).
      Tissue: Brain.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNIT1_HUMAN
    AccessioniPrimary (citable) accession number: Q86X76
    Secondary accession number(s): B1AQP3, D3DVF4, O76091
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2004
    Last sequence update: August 31, 2004
    Last modified: October 1, 2014
    This is version 99 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

    Miscellaneous

    According to Rosetta Stone theory, the existence of a fusion protein in one genome predicts that the separate polypeptides expressed in other organisms function in the same cellular or biochemical pathway. In Drosophila melanogaster and Caenorhabditis elegans, NitFhit is a fusion protein composed of a C-terminal Fhit domain and a domain related to plant and bacterial nitrilase.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3