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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
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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

Expression

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  • 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

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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