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    ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 162282, updated on 23-Nov-2021

    Summary

    Official Symbol
    ANKFN1provided by HGNC
    Official Full Name
    ankyrin repeat and fibronectin type III domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26766
    See related
    Ensembl:ENSG00000153930
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ANKFN1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (56110935..56517016)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (54230836..54594377)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr17.3823 Neighboring gene phosphatidylcholine transfer protein Neighboring gene uncharacterized LOC112268194 Neighboring gene ribosomal protein L39 pseudogene 33

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of DSM-IV cannabis dependence.
    GeneReviews: Not available
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    GeneReviews: Not available
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    GeneReviews: Not available

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ38335

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of establishment of bipolar cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat and fibronectin type-III domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001365758.1NP_001352687.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC006600, AC006925, AC015724
      Conserved Domains (3) summary
      cd00063
      Location:200293
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:61127
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:66100
      ANK; ANK repeat [structural motif]
    2. NM_001370326.1NP_001357255.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC006600, AC006925, AC015724
      Related
      ENSP00000507365.1, ENST00000682825.1
      Conserved Domains (3) summary
      cd00063
      Location:268361
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      sd00045
      Location:134168
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:134195
      Ank_2; Ankyrin repeats (3 copies)
    3. NM_153228.3NP_694960.2  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_694960.2

      Status: VALIDATED

      Source sequence(s)
      AC006600, AC006925, AC015724
      Consensus CDS
      CCDS32686.1
      UniProtKB/Swiss-Prot
      Q8N957
      Related
      ENSP00000321627.2, ENST00000318698.6
      Conserved Domains (4) summary
      cd00063
      Location:271364
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:132198
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13637
      Location:137194
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:137171
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      56110935..56517016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024263.1XP_016879752.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

    2. XM_011524430.2XP_011522732.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_011522732.1

      Conserved Domains (3) summary
      cd00063
      Location:200293
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:61127
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:66100
      ANK; ANK repeat [structural motif]
    3. XM_011524431.2XP_011522733.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_011522733.1

      Conserved Domains (3) summary
      cd00063
      Location:200293
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:61127
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:66100
      ANK; ANK repeat [structural motif]
    4. XM_017024270.2XP_016879759.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X8

    5. XM_017024264.1XP_016879753.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

    6. XM_011524428.2XP_011522730.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      H3BM45
      Related
      ENSP00000454224.2, ENST00000566473.6
      Conserved Domains (4) summary
      cd00063
      Location:271364
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:132198
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13637
      Location:137194
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:137171
      ANK; ANK repeat [structural motif]
    7. XM_017024265.2XP_016879754.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

    8. XM_011524429.2XP_011522731.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X4

      Conserved Domains (4) summary
      cd00063
      Location:265358
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:126192
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13637
      Location:131188
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:131165
      ANK; ANK repeat [structural motif]
    9. XM_017024266.1XP_016879755.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X2

    10. XM_017024269.1XP_016879758.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

      Conserved Domains (3) summary
      cd00063
      Location:200293
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:61127
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:66100
      ANK; ANK repeat [structural motif]
    11. XM_017024267.1XP_016879756.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X5

    12. XM_006721728.3XP_006721791.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006721791.1

      Conserved Domains (3) summary
      cd00063
      Location:200293
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00204
      Location:61127
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:66100
      ANK; ANK repeat [structural motif]
    13. XM_011524433.2XP_011522735.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      cd00063
      Location:1554
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    14. XM_011524434.2XP_011522736.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X9

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