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

Gene ID: 162282, updated on 26-Oct-2022

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 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

See ANKFN1 in Genome Data Viewer
Location:
17q22
Exon count:
32
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56046077..56517016)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57029619..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 phosphatidylcholine transfer protein Neighboring gene uncharacterized LOC124904035 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

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

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)

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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_001365758.1NP_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
    Consensus CDS
    CCDS92363.1
    UniProtKB/TrEMBL
    A0A804HJ58
    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 Annotation Release 110 details...Open this link in a new tab

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_047435502.1XP_047291458.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X6

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

  3. XM_011524430.3XP_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]
  4. XM_011524431.3XP_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]
  5. 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]
  6. XM_017024265.3XP_016879754.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X1

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

  8. XM_011524429.3XP_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_017024269.2XP_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]
  10. XM_017024267.2XP_016879756.1  ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform X5

  11. XM_006721728.4XP_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]
  12. XM_011524433.3XP_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 ...
  13. XM_011524434.2XP_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
    57029619..57393142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)