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FRMD5 FERM domain containing 5 [ Homo sapiens (human) ]

Gene ID: 84978, updated on 17-Jun-2019

Summary

Official Symbol
FRMD5provided by HGNC
Official Full Name
FERM domain containing 5provided by HGNC
Primary source
HGNC:HGNC:28214
See related
Ensembl:ENSG00000171877 MIM:616309
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
Expression
Biased expression in brain (RPKM 6.9), heart (RPKM 4.6) and 4 other tissues See more
Orthologs

Genomic context

See FRMD5 in Genome Data Viewer
Location:
15q15.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (43870761..44195294, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44162962..44487429, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene microfibril associated protein 1 Neighboring gene VISTA enhancer hs1881 Neighboring gene WD repeat domain 76 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 Neighboring gene ACTB pseudogene 7 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 Neighboring gene cancer susceptibility 4 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 Neighboring gene CTD small phosphatase like 2 Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene 1

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41022, MGC14161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
FERM domain-containing protein 5

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_001286490.2NP_001273419.1  FERM domain-containing protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001273419.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 2. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) is shorter than isoform 2.
    Source sequence(s)
    AC023356, AK123018, BC020191, DA276649
    Consensus CDS
    CCDS73716.1
    UniProtKB/TrEMBL
    B3KVN9, H0YKW6
    Related
    ENSP00000452968.1, ENST00000484674.5
    Conserved Domains (3) summary
    pfam00373
    Location:15121
    FERM_M; FERM central domain
    pfam08736
    Location:215260
    FA; FERM adjacent (FA)
    cl17171
    Location:102201
    PH-like; Pleckstrin homology-like domain
  2. NM_001286491.2NP_001273420.1  FERM domain-containing protein 5 isoform 4

    See identical proteins and their annotated locations for NP_001273420.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains multiple differences in the coding region and initiates translation at an alternate downstream start codon, compared to variant 2. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 2.
    Source sequence(s)
    AC023356, BC043486, HY049131
    Consensus CDS
    CCDS73715.1
    UniProtKB/TrEMBL
    A0A087WVP2
    Related
    ENSP00000479575.1, ENST00000618556.4
    Conserved Domains (2) summary
    pfam08736
    Location:75109
    FA; FERM adjacent (FA)
    cl17171
    Location:761
    PH-like; Pleckstrin homology-like domain
  3. NM_001322949.2NP_001309878.1  FERM domain-containing protein 5 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
    Conserved Domains (5) summary
    smart00295
    Location:19210
    B41; Band 4.1 homologues
    cd13192
    Location:191295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam00373
    Location:104210
    FERM_M; FERM central domain
    pfam08736
    Location:309343
    FA; FERM adjacent (FA)
    pfam09379
    Location:2184
    FERM_N; FERM N-terminal domain
  4. NM_001322950.2NP_001309879.1  FERM domain-containing protein 5 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
    Related
    ENSP00000399684.1, ENST00000449926.5
    Conserved Domains (5) summary
    smart00295
    Location:19210
    B41; Band 4.1 homologues
    cd13192
    Location:191295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam00373
    Location:104210
    FERM_M; FERM central domain
    pfam08736
    Location:309343
    FA; FERM adjacent (FA)
    pfam09379
    Location:2184
    FERM_N; FERM N-terminal domain
  5. NM_001322951.2NP_001309880.1  FERM domain-containing protein 5 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC023356, AC073940
  6. NM_032892.5NP_116281.2  FERM domain-containing protein 5 isoform 2

    See identical proteins and their annotated locations for NP_116281.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AC023356, BC053647, DA276649, HY049131
    Consensus CDS
    CCDS10107.2
    UniProtKB/Swiss-Prot
    Q7Z6J6
    Related
    ENSP00000403067.1, ENST00000417257.6
    Conserved Domains (3) summary
    smart00295
    Location:19210
    B41; Band 4.1 homologues
    cd13192
    Location:191295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam08736
    Location:309354
    FA; FERM adjacent (FA)

RNA

  1. NR_104455.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon and uses an alternate splice site at an internal exon, compared to variant 2. This variant is represented as non-coding because the predicted ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AC023356, BC007796, BC043486, HY049131

RefSeqs of Annotated Genomes: Homo sapiens 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_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    43870761..44195294 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254730.3XP_005254787.1  FERM domain-containing protein 5 isoform X1

    UniProtKB/TrEMBL
    B5MC67
    Related
    ENSP00000384142.1, ENST00000402883.5
    Conserved Domains (5) summary
    smart00295
    Location:19210
    B41; Band 4.1 homologues
    cd13192
    Location:191295
    FERM_C_FRMD3_FRMD5; FERM domain C-lobe of FERM domain-containing protein 3 and 5 (FRMD3 and 5)
    pfam00373
    Location:104210
    FERM_M; FERM central domain
    pfam08736
    Location:309343
    FA; FERM adjacent (FA)
    pfam09379
    Location:2184
    FERM_N; FERM N-terminal domain

RNA

  1. XR_931927.3 RNA Sequence

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