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Q16352

- AINX_HUMAN

UniProt

Q16352 - AINX_HUMAN

Protein

Alpha-internexin

Gene

INA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 2 (23 Jan 2002)
      Previous versions | rss
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    Functioni

    Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges.

    GO - Molecular functioni

    1. structural constituent of cytoskeleton Source: ProtInc

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. neurofilament cytoskeleton organization Source: Ensembl
    3. substantia nigra development Source: UniProt

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-internexin
    Short name:
    Alpha-Inx
    Alternative name(s):
    66 kDa neurofilament protein
    Short name:
    NF-66
    Short name:
    Neurofilament-66
    Neurofilament 5
    Gene namesi
    Name:INA
    Synonyms:NEF5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:6057. INA.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasmic ribonucleoprotein granule Source: ParkinsonsUK-UCL
    2. extracellular space Source: UniProt
    3. neurofilament Source: ProtInc

    Keywords - Cellular componenti

    Intermediate filament

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29867.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 499499Alpha-internexinPRO_0000063783Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei72 – 721PhosphoserineBy similarity
    Modified residuei290 – 2901N6-acetyllysine1 Publication
    Modified residuei335 – 3351PhosphoserineBy similarity
    Modified residuei496 – 4961Phosphoserine1 Publication

    Post-translational modificationi

    O-glycosylated.By similarity

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ16352.
    PaxDbiQ16352.
    PeptideAtlasiQ16352.
    PRIDEiQ16352.

    PTM databases

    PhosphoSiteiQ16352.

    Expressioni

    Tissue specificityi

    Found predominantly in adult CNS.

    Developmental stagei

    Expressed in brain as early as the 16th week of gestation, and increased rapidly and reached a steady state level by the 18th week of gestation.

    Gene expression databases

    ArrayExpressiQ16352.
    BgeeiQ16352.
    CleanExiHS_INA.
    GenevestigatoriQ16352.

    Organism-specific databases

    HPAiCAB002059.
    HPA008057.

    Interactioni

    Protein-protein interaction databases

    BioGridi114566. 9 interactions.
    IntActiQ16352. 3 interactions.
    STRINGi9606.ENSP00000358865.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16352.
    SMRiQ16352. Positions 91-231, 259-329, 333-402.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 8787HeadAdd
    BLAST
    Regioni88 – 408321RodAdd
    BLAST
    Regioni88 – 12942Coil 1AAdd
    BLAST
    Regioni130 – 14213Linker 1Add
    BLAST
    Regioni143 – 23896Coil 1BAdd
    BLAST
    Regioni239 – 26224Linker 2Add
    BLAST
    Regioni263 – 408146Coil 2Add
    BLAST
    Regioni409 – 49991TailAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi449 – 4546Poly-Glu

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG149366.
    HOGENOMiHOG000230977.
    HOVERGENiHBG013015.
    InParanoidiQ16352.
    KOiK07608.
    OMAiRCNVASS.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiQ16352.
    TreeFamiTF330122.

    Family and domain databases

    InterProiIPR027703. Alpha-Inx.
    IPR001664. IF.
    IPR006821. Intermed_filament_DNA-bd.
    IPR018039. Intermediate_filament_CS.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF132. PTHR23239:SF132. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    PF04732. Filament_head. 1 hit.
    [Graphical view]
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q16352-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSFGSEHYLC SSSSYRKVFG DGSRLSARLS GAGGAGGFRS QSLSRSNVAS    50
    SAACSSASSL GLGLAYRRPP ASDGLDLSQA AARTNEYKII RTNEKEQLQG 100
    LNDRFAVFIE KVHQLETQNR ALEAELAALR QRHAEPSRVG ELFQRELRDL 150
    RAQLEEASSA RSQALLERDG LAEEVQRLRA RCEEESRGRE GAERALKAQQ 200
    RDVDGATLAR LDLEKKVESL LDELAFVRQV HDEEVAELLA TLQASSQAAA 250
    EVDVTVAKPD LTSALREIRA QYESLAAKNL QSAEEWYKSK FANLNEQAAR 300
    STEAIRASRE EIHEYRRQLQ ARTIEIEGLR GANESLERQI LELEERHSAE 350
    VAGYQDSIGQ LENDLRNTKS EMARHLREYQ DLLNVKMALD IEIAAYRKLL 400
    EGEETRFSTS GLSISGLNPL PNPSYLLPPR ILSATTSKVS STGLSLKKEE 450
    EEEEASKVAS KKTSQIGESF EEILEETVIS TKKTEKSNIE ETTISSQKI 499
    Length:499
    Mass (Da):55,391
    Last modified:January 23, 2002 - v2
    Checksum:i4C972764E9E68D3E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti37 – 415GFRSQ → ASVE in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti67 – 671R → A in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti128 – 1325ALRQR → RCDT in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti141 – 1411E → Q in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti147 – 1526LRDLRA → PRHLP in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti191 – 1988GAERALKA → RRARLKR in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti244 – 2441A → R in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti263 – 2631S → A in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti301 – 3011S → T in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti310 – 3112EE → DQ in AAB34482. (PubMed:7769995)Curated
    Sequence conflicti318 – 3181Missing in AAB34482. (PubMed:7769995)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti92 – 921T → S.1 Publication
    Corresponds to variant rs1063455 [ dbSNP | Ensembl ].
    VAR_049808
    Natural varianti110 – 1101E → Q in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036369
    Natural varianti149 – 1491D → H.
    Corresponds to variant rs1063456 [ dbSNP | Ensembl ].
    VAR_033497

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S78296 mRNA. Translation: AAB34482.1.
    AL591408 Genomic DNA. Translation: CAI16744.1.
    CH471066 Genomic DNA. Translation: EAW49653.1.
    BC006359 mRNA. Translation: AAH06359.1.
    CCDSiCCDS7545.1.
    PIRiI52658.
    RefSeqiNP_116116.1. NM_032727.3.
    UniGeneiHs.500916.

    Genome annotation databases

    EnsembliENST00000369849; ENSP00000358865; ENSG00000148798.
    GeneIDi9118.
    KEGGihsa:9118.
    UCSCiuc001kws.3. human.

    Polymorphism databases

    DMDMi20141266.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S78296 mRNA. Translation: AAB34482.1 .
    AL591408 Genomic DNA. Translation: CAI16744.1 .
    CH471066 Genomic DNA. Translation: EAW49653.1 .
    BC006359 mRNA. Translation: AAH06359.1 .
    CCDSi CCDS7545.1.
    PIRi I52658.
    RefSeqi NP_116116.1. NM_032727.3.
    UniGenei Hs.500916.

    3D structure databases

    ProteinModelPortali Q16352.
    SMRi Q16352. Positions 91-231, 259-329, 333-402.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114566. 9 interactions.
    IntActi Q16352. 3 interactions.
    STRINGi 9606.ENSP00000358865.

    PTM databases

    PhosphoSitei Q16352.

    Polymorphism databases

    DMDMi 20141266.

    Proteomic databases

    MaxQBi Q16352.
    PaxDbi Q16352.
    PeptideAtlasi Q16352.
    PRIDEi Q16352.

    Protocols and materials databases

    DNASUi 9118.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369849 ; ENSP00000358865 ; ENSG00000148798 .
    GeneIDi 9118.
    KEGGi hsa:9118.
    UCSCi uc001kws.3. human.

    Organism-specific databases

    CTDi 9118.
    GeneCardsi GC10P105026.
    HGNCi HGNC:6057. INA.
    HPAi CAB002059.
    HPA008057.
    MIMi 605338. gene.
    neXtProti NX_Q16352.
    PharmGKBi PA29867.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149366.
    HOGENOMi HOG000230977.
    HOVERGENi HBG013015.
    InParanoidi Q16352.
    KOi K07608.
    OMAi RCNVASS.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi Q16352.
    TreeFami TF330122.

    Miscellaneous databases

    ChiTaRSi INA. human.
    GenomeRNAii 9118.
    NextBioi 34171.
    PROi Q16352.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16352.
    Bgeei Q16352.
    CleanExi HS_INA.
    Genevestigatori Q16352.

    Family and domain databases

    InterProi IPR027703. Alpha-Inx.
    IPR001664. IF.
    IPR006821. Intermed_filament_DNA-bd.
    IPR018039. Intermediate_filament_CS.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF132. PTHR23239:SF132. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    PF04732. Filament_head. 1 hit.
    [Graphical view ]
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and developmental expression of human 66 kd neurofilament protein."
      Chan S.-O., Chiu F.-C.
      Brain Res. Mol. Brain Res. 29:177-184(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-92.
      Tissue: Fetal brain.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [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].
      Tissue: Brain.
    5. Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 46-83; 105-111; 121-130; 139-145; 216-228; 279-288; 323-330; 339-367; 378-397 AND 407-430, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-496, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    7. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-290, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-110.

    Entry informationi

    Entry nameiAINX_HUMAN
    AccessioniPrimary (citable) accession number: Q16352
    Secondary accession number(s): B1AQK0, Q9BRC5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: January 23, 2002
    Last modified: October 1, 2014
    This is version 138 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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