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

Gene ID: 10129, updated on 27-Aug-2022

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; AllianceGenome:HGNC:20367
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
Summary
Predicted to enable enzyme inhibitor activity. Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be located in microtubule organizing center and spindle pole. Predicted to be active in cell cortex and site of polarized growth. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 6.3), brain (RPKM 4.5) and 25 other tissues See more
Orthologs
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Genomic context

See FRY in Genome Data Viewer
Location:
13q13.1
Exon count:
64
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32031774..32299125)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31248643..31516370)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32605911..32873262)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900336 Neighboring gene uncharacterized LOC124903149 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

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
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 enzyme inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of tubulin deacetylation IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
is_active_in site of polarized growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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_001411012.1NP_001397941.1  protein furry homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL137143, AL138692, AL445212
  2. NM_023037.3NP_075463.2  protein furry homolog isoform 1

    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, Q9Y3N6
    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 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_000013.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047429999.1XP_047285955.1  protein furry homolog isoform X1

  2. XM_047430001.1XP_047285957.1  protein furry homolog isoform X4

    UniProtKB/TrEMBL
    A0A286YFA9
    Related
    ENSP00000493189.1, ENST00000642040.1
  3. XM_047430000.1XP_047285956.1  protein furry homolog isoform X2

  4. XM_006719749.4XP_006719812.1  protein furry homolog isoform X3

    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
  5. XM_017020306.2XP_016875795.1  protein furry homolog isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    31248643..31516370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)