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FNBP4 formin binding protein 4 [ Homo sapiens (human) ]

Gene ID: 23360, updated on 4-Oct-2020

Summary

Official Symbol
FNBP4provided by HGNC
Official Full Name
formin binding protein 4provided by HGNC
Primary source
HGNC:HGNC:19752
See related
Ensembl:ENSG00000109920 MIM:615265
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBP30
Summary
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in spleen (RPKM 13.0), lymph node (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See FNBP4 in Genome Data Viewer
Location:
11p11.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (47716494..47767460, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47738055..47789012, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial carrier 2 Neighboring gene ATP/GTP binding protein like 2 Neighboring gene nucleoporin 160 Neighboring gene RNA, 5S ribosomal pseudogene 340 Neighboring gene YPEL5 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41904, KIAA1014, DKFZp779I1064, DKFZp686M14102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
formin-binding protein 4
Names
formin-binding protein 30

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.

Genomic

  1. NG_053146.1 RefSeqGene

    Range
    5138..55985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318339.3NP_001305268.1  formin-binding protein 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB023231, AC021443, AI434014, DA238225, HY166173
    UniProtKB/Swiss-Prot
    Q8N3X1
    Conserved Domains (2) summary
    cd00201
    Location:600631
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:221248
    WW; WW domain
  2. NM_015308.5NP_056123.2  formin-binding protein 4 isoform 2

    See identical proteins and their annotated locations for NP_056123.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC021443, AI434014, AK054636, BC037404, DB458472
    Consensus CDS
    CCDS41644.1
    UniProtKB/Swiss-Prot
    Q8N3X1
    Related
    ENSP00000263773.5, ENST00000263773.10
    Conserved Domains (2) summary
    cd00201
    Location:598629
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:219246
    WW; WW domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    47716494..47767460 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448409.1XP_024304177.1  formin-binding protein 4 isoform X2

    Conserved Domains (2) summary
    cd00201
    Location:600631
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:221248
    WW; WW domain
  2. XM_024448408.1XP_024304176.1  formin-binding protein 4 isoform X1

    Conserved Domains (2) summary
    cd00201
    Location:600631
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:221248
    WW; WW domain

RNA

  1. XR_930854.1 RNA Sequence

  2. XR_001747804.1 RNA Sequence

  3. XR_001747810.1 RNA Sequence

  4. XR_001747813.1 RNA Sequence

  5. XR_002957136.1 RNA Sequence

  6. XR_242785.2 RNA Sequence

  7. XR_930855.2 RNA Sequence

  8. XR_001747815.1 RNA Sequence

  9. XR_002957135.1 RNA Sequence

  10. XR_002957134.1 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p13 PATCHES

    Range
    148861..199708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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