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FRY FRY microtubule binding protein [ Homo sapiens (human) ]

Gene ID: 10129, updated on 1-Jun-2020

Summary

Official Symbol
FRYprovided by HGNC
Official Full Name
FRY microtubule binding proteinprovided by HGNC
Primary source
HGNC:HGNC:20367
See related
Ensembl:ENSG00000073910 MIM:614818
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
CG003; 13CDNA73; 214K23.2; C13orf14; bA207N4.2; bA37E23.1
Expression
Ubiquitous expression in heart (RPKM 6.3), brain (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See FRY in Genome Data Viewer
Location:
13q13.1
Exon count:
66
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (32031774..32299125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32605269..32870794)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370152 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10155 Neighboring gene FRY antisense RNA 1 Neighboring gene BRCA2 promoter/silencer region Neighboring gene zygote arrest 1 like Neighboring gene BRCA2 DNA repair associated Neighboring gene Sharpr-MPRA regulatory region 1962

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

NHGRI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of tubulin deacetylation IEA
Inferred from Electronic Annotation
more info
 
neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
site of polarized growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein furry homolog
Names
WUGSC:H_2G3A.1
furry homolog

NCBI Reference Sequences (RefSeq)

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_023037.3NP_075463.2  protein furry homolog

    See identical proteins and their annotated locations for NP_075463.2

    Status: VALIDATED

    Source sequence(s)
    AA993094, AL049784, AL445212, U50534
    Consensus CDS
    CCDS41875.1
    UniProtKB/Swiss-Prot
    Q5TBA9
    Related
    ENSP00000445043.2, ENST00000542859.6
    Conserved Domains (3) summary
    pfam14222
    Location:165672
    MOR2-PAG1_N; Cell morphogenesis N-terminal
    pfam14225
    Location:20422295
    MOR2-PAG1_C; Cell morphogenesis C-terminal
    pfam14228
    Location:11411513
    MOR2-PAG1_mid; Cell morphogenesis central region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    32031774..32299125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719749.3XP_006719812.1  protein furry homolog isoform X1

    Conserved Domains (3) summary
    pfam14222
    Location:162669
    MOR2-PAG1_N; Cell morphogenesis N-terminal
    pfam14225
    Location:20392292
    MOR2-PAG1_C; Cell morphogenesis C-terminal
    pfam14228
    Location:11381510
    MOR2-PAG1_mid; Cell morphogenesis central region
  2. XM_017020305.2XP_016875794.1  protein furry homolog isoform X2

  3. XM_017020306.1XP_016875795.1  protein furry homolog isoform X3

  4. XM_017020307.2XP_016875796.1  protein furry homolog isoform X4

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