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

    Gene ID: 162282, updated on 11-Apr-2024

    Summary

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    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 AllianceGenome:HGNC:26766
    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
    Summary
    Predicted to be involved in establishment of mitotic spindle orientation and regulation of establishment of bipolar cell polarity. Predicted to act upstream of or within behavioral fear response; equilibrioception; and locomotor rhythm. Predicted to be active in spindle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q22
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56046077..56517016)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56922200..57393142)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 8736 Neighboring gene Sharpr-MPRA regulatory region 14534 Neighboring gene transmembrane protein 100 Neighboring gene phosphatidylcholine transfer protein Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:53947369-53947962 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54047027-54047211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54047308-54047999 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54066616-54066826 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54067571-54068181 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54234389-54234595 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:54299024-54300223 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54307079-54307689 Neighboring gene uncharacterized LOC124904035 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:54436362-54437561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8737 Neighboring gene uncharacterized LOC112268194 Neighboring gene ribosomal protein L39 pseudogene 33

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Ankfn1-mutant vestibular defects require loss of both ancestral and derived paralogs for penetrance in zebrafish. Ross KD, et al. G3 (Bethesda), 2022 Mar 4. PMID 35100349, Free PMC Article
    2. A genome-wide association study of DSM-IV cannabis dependence. Agrawal A, et al. Addict Biol, 2011 Jul. PMID 21668797, Free PMC Article
    3. Identification of ten loci associated with height highlights new biological pathways in human growth. Lettre G, et al. Nat Genet, 2008 May. PMID 18391950, Free PMC Article
    4. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. Östensson M, et al. PLoS One, 2013. PMID 23936387, Free PMC Article
    5. Human gingiva transcriptome during wound healing. Wang Y, et al. J Clin Periodontol, 2017 Apr. PMID 28005267

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ANKFN1 expression is significantly downregulated in human masticatory mucosa during wound healing
      Title: Human gingiva transcriptome during wound healing.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of DSM-IV cannabis dependence.
    EBI GWAS Catalog
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38335

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in equilibrioception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in locomotor rhythm IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of establishment of bipolar cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001365758.1 → NP_001352687.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC006600, AC006925, AC015724
      UniProtKB/TrEMBL
      A0A1B0GTR8
      Conserved Domains (3) summary
      cd00063
      Location:200 → 293
      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:61 → 127
      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:66 → 100
      ANK; ANK repeat [structural motif]

    2. NM_001370326.1 → NP_001357255.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC006600, AC006925, AC015724
      Consensus CDS
      CCDS92363.1
      UniProtKB/Swiss-Prot
      A0A804HJ58, Q8N957
      UniProtKB/TrEMBL
      A0A1B0GTR8
      Related
      ENSP00000507365.1, ENST00000682825.1
      Conserved Domains (3) summary
      cd00063
      Location:268 → 361
      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:134 → 168
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:134 → 195
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_153228.3 → NP_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:271 → 364
      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:132 → 198
      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:137 → 194
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:137 → 171
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      56046077..56517016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435502.1 → XP_047291458.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

    2. XM_017024263.2 → XP_016879752.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTR8

    3. XM_011524430.3 → XP_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

      UniProtKB/TrEMBL
      A0A1B0GTR8
      Conserved Domains (3) summary
      cd00063
      Location:200 → 293
      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:61 → 127
      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:66 → 100
      ANK; ANK repeat [structural motif]

    4. XM_011524431.3 → XP_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

      UniProtKB/TrEMBL
      A0A1B0GTR8
      Conserved Domains (3) summary
      cd00063
      Location:200 → 293
      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:61 → 127
      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:66 → 100
      ANK; ANK repeat [structural motif]

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

      UniProtKB/TrEMBL
      A0A1B0GTR8, H3BM45
      Related
      ENSP00000454224.2, ENST00000566473.6
      Conserved Domains (4) summary
      cd00063
      Location:271 → 364
      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:132 → 198
      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:137 → 194
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:137 → 171
      ANK; ANK repeat [structural motif]

    6. XM_017024265.3 → XP_016879754.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTR8

    7. XM_017024266.2 → XP_016879755.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GTR8

    8. XM_011524429.3 → XP_011522731.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1B0GTR8
      Conserved Domains (4) summary
      cd00063
      Location:265 → 358
      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:126 → 192
      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:131 → 188
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:131 → 165
      ANK; ANK repeat [structural motif]

    9. XM_017024269.2 → XP_016879758.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1B0GTR8
      Conserved Domains (3) summary
      cd00063
      Location:200 → 293
      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:61 → 127
      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:66 → 100
      ANK; ANK repeat [structural motif]

    10. XM_017024267.2 → XP_016879756.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1B0GTR8

    11. XM_006721728.4 → XP_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

      UniProtKB/TrEMBL
      A0A1B0GTR8
      Conserved Domains (3) summary
      cd00063
      Location:200 → 293
      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:61 → 127
      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:66 → 100
      ANK; ANK repeat [structural motif]

    12. XM_011524433.3 → XP_011522735.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      cd00063
      Location:15 → 54
      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 ...

    13. XM_011524434.2 → XP_011522736.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      56922200..57393142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315250.1 → XP_054171225.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

    2. XM_054315243.1 → XP_054171218.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

    3. XM_054315249.1 → XP_054171224.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

    4. XM_054315246.1 → XP_054171221.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X3

    5. XM_054315244.1 → XP_054171219.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

    6. XM_054315245.1 → XP_054171220.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X2

    7. XM_054315247.1 → XP_054171222.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X4

    8. XM_054315251.1 → XP_054171226.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

    9. XM_054315248.1 → XP_054171223.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X5

    10. XM_054315252.1 → XP_054171227.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

    11. XM_054315253.1 → XP_054171228.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X7

    12. XM_054315254.1 → XP_054171229.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N957.3 GenPept UniProtKB/Swiss-Prot:Q8N957

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