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Q8TC84

- FANK1_HUMAN

UniProt

Q8TC84 - FANK1_HUMAN

Protein

Fibronectin type 3 and ankyrin repeat domains protein 1

Gene

FANK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibronectin type 3 and ankyrin repeat domains protein 1
    Gene namesi
    Name:FANK1
    ORF Names:HSD13, UNQ6504/PRO21382
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23527. FANK1.

    Subcellular locationi

    Nucleus. Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134976727.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 345345Fibronectin type 3 and ankyrin repeat domains protein 1PRO_0000066990Add
    BLAST

    Proteomic databases

    PaxDbiQ8TC84.
    PRIDEiQ8TC84.

    PTM databases

    PhosphoSiteiQ8TC84.

    Expressioni

    Tissue specificityi

    Mostly restricted to testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8TC84.
    BgeeiQ8TC84.
    CleanExiHS_FANK1.
    GenevestigatoriQ8TC84.

    Organism-specific databases

    HPAiHPA037557.
    HPA038413.

    Interactioni

    Protein-protein interaction databases

    BioGridi124956. 2 interactions.
    STRINGi9606.ENSP00000357682.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TC84.
    SMRiQ8TC84. Positions 1-333.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini8 – 108101Fibronectin type-IIIPROSITE-ProRule annotationAdd
    BLAST
    Repeati109 – 13931ANK 1Add
    BLAST
    Repeati143 – 17230ANK 2Add
    BLAST
    Repeati176 – 20530ANK 3Add
    BLAST
    Repeati209 – 23830ANK 4Add
    BLAST
    Repeati243 – 27331ANK 5Add
    BLAST
    Repeati277 – 30630ANK 6Add
    BLAST

    Sequence similaritiesi

    Contains 6 ANK repeats.PROSITE-ProRule annotation
    Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOGENOMiHOG000293255.
    HOVERGENiHBG051552.
    OMAiCHEDSQD.
    PhylomeDBiQ8TC84.
    TreeFamiTF106234.

    Family and domain databases

    Gene3Di1.25.40.20. 1 hit.
    2.60.40.10. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    [Graphical view]
    PfamiPF12796. Ank_2. 2 hits.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 6 hits.
    SM00060. FN3. 1 hit.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    SSF49265. SSF49265. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 5 hits.
    PS50853. FN3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TC84-1) [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

    MEPQKIMPPS KPHPPVVGKV THHSIELYWD LEKKAKRQGP QEQWFRFSIE    50
    EEDPKMHTYG IIYTGYATKH VVEGLEPRTL YRFRLKVTSP SGECEYSPLV 100
    SVSTTREPIS SEHLHRAVSV NDEDLLVRIL QGGRVKVDVP NKFGFTALMV 150
    AAQKGYTRLV KILVSNGTDV NLKNGSGKDS LMLACYAGHL DVVKYLRRHG 200
    ASWQARDLGG CTALHWAADG GHCSVIEWMI KDGCEVDVVD TGSGWTPLMR 250
    VSAVSGNQRV ASLLIDAGAN VNVKDRNGKT PLMVAVLNNH EELVQLLLDK 300
    GADASVKNEF GKGVLEMARV FDRQSVVSLL EERKKKQRPK KSCVC 345
    Length:345
    Mass (Da):38,341
    Last modified:October 17, 2006 - v3
    Checksum:i47C16DE1ABF814E5
    GO
    Isoform 2 (identifier: Q8TC84-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         325-345: SVVSLLEERKKKQRPKKSCVC → VGMLFLPIKANF

    Show »
    Length:336
    Mass (Da):37,245
    Checksum:iA78CFF7A8585AA9D
    GO
    Isoform 3 (identifier: Q8TC84-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         106-106: R → RPSLSKSLVKIRMVTSVLHGPPTENTG

    Note: No experimental confirmation available.

    Show »
    Length:371
    Mass (Da):41,072
    Checksum:i45D09153B1E30635
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51K → R in AAH24189. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121P → L.
    Corresponds to variant rs17153879 [ dbSNP | Ensembl ].
    VAR_048296
    Natural varianti46 – 461R → S.
    Corresponds to variant rs17153882 [ dbSNP | Ensembl ].
    VAR_027896
    Natural varianti329 – 3291L → V.
    Corresponds to variant rs1666 [ dbSNP | Ensembl ].
    VAR_024176
    Natural varianti343 – 3431C → F.
    Corresponds to variant rs17153976 [ dbSNP | Ensembl ].
    VAR_048297

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei106 – 1061R → RPSLSKSLVKIRMVTSVLHG PPTENTG in isoform 3. 1 PublicationVSP_013569
    Alternative sequencei325 – 34521SVVSL…KSCVC → VGMLFLPIKANF in isoform 2. 1 PublicationVSP_013568Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358154 mRNA. Translation: AAQ88521.1.
    BC024189 mRNA. Translation: AAH24189.2.
    AY251163 mRNA. Translation: AAP20060.1.
    CCDSiCCDS31309.1. [Q8TC84-1]
    RefSeqiNP_660278.3. NM_145235.3. [Q8TC84-1]
    UniGeneiHs.352591.

    Genome annotation databases

    EnsembliENST00000368693; ENSP00000357682; ENSG00000203780. [Q8TC84-1]
    GeneIDi92565.
    KEGGihsa:92565.
    UCSCiuc001ljh.4. human. [Q8TC84-1]
    uc001lji.3. human. [Q8TC84-2]
    uc009yan.3. human. [Q8TC84-3]

    Polymorphism databases

    DMDMi116241361.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358154 mRNA. Translation: AAQ88521.1 .
    BC024189 mRNA. Translation: AAH24189.2 .
    AY251163 mRNA. Translation: AAP20060.1 .
    CCDSi CCDS31309.1. [Q8TC84-1 ]
    RefSeqi NP_660278.3. NM_145235.3. [Q8TC84-1 ]
    UniGenei Hs.352591.

    3D structure databases

    ProteinModelPortali Q8TC84.
    SMRi Q8TC84. Positions 1-333.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124956. 2 interactions.
    STRINGi 9606.ENSP00000357682.

    PTM databases

    PhosphoSitei Q8TC84.

    Polymorphism databases

    DMDMi 116241361.

    Proteomic databases

    PaxDbi Q8TC84.
    PRIDEi Q8TC84.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368693 ; ENSP00000357682 ; ENSG00000203780 . [Q8TC84-1 ]
    GeneIDi 92565.
    KEGGi hsa:92565.
    UCSCi uc001ljh.4. human. [Q8TC84-1 ]
    uc001lji.3. human. [Q8TC84-2 ]
    uc009yan.3. human. [Q8TC84-3 ]

    Organism-specific databases

    CTDi 92565.
    GeneCardsi GC10P127575.
    H-InvDB HIX0009297.
    HGNCi HGNC:23527. FANK1.
    HPAi HPA037557.
    HPA038413.
    MIMi 611640. gene.
    neXtProti NX_Q8TC84.
    PharmGKBi PA134976727.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOGENOMi HOG000293255.
    HOVERGENi HBG051552.
    OMAi CHEDSQD.
    PhylomeDBi Q8TC84.
    TreeFami TF106234.

    Miscellaneous databases

    ChiTaRSi FANK1. human.
    GenomeRNAii 92565.
    NextBioi 77799.
    PROi Q8TC84.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TC84.
    Bgeei Q8TC84.
    CleanExi HS_FANK1.
    Genevestigatori Q8TC84.

    Family and domain databases

    Gene3Di 1.25.40.20. 1 hit.
    2.60.40.10. 1 hit.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    [Graphical view ]
    Pfami PF12796. Ank_2. 2 hits.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 6 hits.
    SM00060. FN3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    SSF49265. SSF49265. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 5 hits.
    PS50853. FN3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    2. "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: Testis.
    3. "A new spermatogenesis-related gene."
      Hu T.H., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.
      Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-345 (ISOFORM 2).
      Tissue: Testis.
    4. "Fank1 is a testis-specific gene encoding a nuclear protein exclusively expressed during the transition from the meiotic to the haploid phase of spermatogenesis."
      Zheng Z., Zheng H., Yan W.
      Gene Expr. Patterns 7:777-783(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiFANK1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TC84
    Secondary accession number(s): Q6UXY9, Q6X7T6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2005
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 99 of the entry and version 3 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 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