U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FANK1 fibronectin type III and ankyrin repeat domains 1 [ Homo sapiens (human) ]

Gene ID: 92565, updated on 26-Oct-2022

Summary

Official Symbol
FANK1provided by HGNC
Official Full Name
fibronectin type III and ankyrin repeat domains 1provided by HGNC
Primary source
HGNC:HGNC:23527
See related
Ensembl:ENSG00000203780 MIM:611640; AllianceGenome:HGNC:23527
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
Also known as
HSD13
Summary
Involved in regulation of apoptotic process and regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. Colocalizes with chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 5.5), thyroid (RPKM 1.2) and 10 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FANK1 in Genome Data Viewer
Location:
10q26.2
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (125896564..126009592)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126779041..126892088)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127585133..127698161)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1957 Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene Sharpr-MPRA regulatory region 15703 Neighboring gene RNA, U2 small nuclear 42, pseudogene Neighboring gene FANK1 antisense RNA 1 Neighboring gene G protein subunit gamma 10 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 12 Neighboring gene RNA, 5S ribosomal pseudogene 328 Neighboring gene secretion associated Ras related GTPase 1A pseudogene 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in ciliary base IEA
Inferred from Electronic Annotation
more info
 
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fibronectin type 3 and ankyrin repeat domains protein 1
Names
fibronectin type 3 and ankyrin repeat domains 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_001350939.2NP_001337868.1  fibronectin type 3 and ankyrin repeat domains protein 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AY358154, CA432498
    Conserved Domains (4) summary
    smart00060
    Location:993
    FN3; Fibronectin type 3 domain
    cd00204
    Location:197324
    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:202233
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:140233
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001363549.2NP_001350478.1  fibronectin type 3 and ankyrin repeat domains protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC063963, AL360176
    Related
    ENSP00000357680.1, ENST00000368691.5
    Conserved Domains (4) summary
    smart00060
    Location:387
    FN3; Fibronectin type 3 domain
    cd00204
    Location:165292
    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:170201
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:108201
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_145235.5NP_660278.3  fibronectin type 3 and ankyrin repeat domains protein 1 isoform 2

    See identical proteins and their annotated locations for NP_660278.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) has the same N- and C-termini, but is shorter than isoform 1.
    Source sequence(s)
    BC024189, BQ225468, HY035204
    Consensus CDS
    CCDS31309.1
    UniProtKB/Swiss-Prot
    Q6X7T6, Q8TC84
    Related
    ENSP00000357682.1, ENST00000368693.6
    Conserved Domains (6) summary
    smart00060
    Location:993
    FN3; Fibronectin type 3 domain
    cd00204
    Location:171298
    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 ...
    pfam00023
    Location:144174
    Ank; Ankyrin repeat
    pfam12796
    Location:148240
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:113164
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:176207
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    125896564..126009592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    126779041..126892088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)