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DIAPH3 diaphanous related formin 3 [ Homo sapiens (human) ]

Gene ID: 81624, updated on 18-May-2019

Summary

Official Symbol
DIAPH3provided by HGNC
Official Full Name
diaphanous related formin 3provided by HGNC
Primary source
HGNC:HGNC:15480
See related
Ensembl:ENSG00000139734 MIM:614567
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
AN; DIA2; DRF3; AUNA1; NSDAN; diap3; mDia2
Summary
This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Expression
Broad expression in testis (RPKM 3.1), placenta (RPKM 1.0) and 14 other tissues See more
Orthologs

Genomic context

See DIAPH3 in Genome Data Viewer
Location:
13q21.2
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (59665583..60163985, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (60239717..60738119, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984625 Neighboring gene RNA, U7 small nuclear 88 pseudogene Neighboring gene DIAPH3 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 375, pseudogene Neighboring gene DIAPH3 antisense RNA 2 Neighboring gene uncharacterized LOC105370227 Neighboring gene RNY4 pseudogene 28

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?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34705, DKFZp434C0931, DKFZp686A13178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho GTPase binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein diaphanous homolog 3
Names
diaphanous homolog 3

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_032693.2 RefSeqGene

    Range
    5001..503403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042517.2NP_001035982.1  protein diaphanous homolog 3 isoform a

    See identical proteins and their annotated locations for NP_001035982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK298509, AL356502, AL359266, AL390878, AY750055, CA310418
    Consensus CDS
    CCDS41898.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    UniProtKB/TrEMBL
    B4DPV3
    Related
    ENSP00000383178.3, ENST00000400324.8
    Conserved Domains (3) summary
    pfam02181
    Location:6361008
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:305488
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:115297
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. NM_001258366.1NP_001245295.1  protein diaphanous homolog 3 isoform c

    See identical proteins and their annotated locations for NP_001245295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform c) is shorter compared to isoform a.
    Source sequence(s)
    AB244756, AL356502, AL359266, CA310418
    Consensus CDS
    CCDS58296.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    Related
    ENSP00000367141.2, ENST00000377908.6
    Conserved Domains (3) summary
    pfam02181
    Location:625997
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:294477
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:104286
    Drf_GBD; Diaphanous GTPase-binding Domain
  3. NM_001258367.1NP_001245296.1  protein diaphanous homolog 3 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform d) is shorter compared to isoform a.
    Source sequence(s)
    AB244757, AL356502, AL359266, AL390878, CA310418
    Consensus CDS
    CCDS58295.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    Related
    ENSP00000383174.1, ENST00000400320.5
    Conserved Domains (3) summary
    pfam02181
    Location:590962
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:259442
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:104251
    Drf_GBD; Diaphanous GTPase-binding Domain
  4. NM_001258368.1NP_001245297.1  protein diaphanous homolog 3 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform e) is shorter compared to isoform a.
    Source sequence(s)
    AB244758, AL356502, AL359266, CA310418
    Consensus CDS
    CCDS58294.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    Related
    ENSP00000383173.1, ENST00000400319.5
    Conserved Domains (3) summary
    pfam02181
    Location:566938
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:235418
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:61227
    Drf_GBD; Diaphanous GTPase-binding Domain
  5. NM_001258369.1NP_001245298.1  protein diaphanous homolog 3 isoform f

    See identical proteins and their annotated locations for NP_001245298.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform f) has a shorter C-terminus compared to isoform a.
    Source sequence(s)
    AL354829, AL356502, AY818645
    Consensus CDS
    CCDS58297.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    Related
    ENSP00000267215.4, ENST00000267215.8
    Conserved Domains (3) summary
    pfam02181
    Location:6361008
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:305488
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:115297
    Drf_GBD; Diaphanous GTPase-binding Domain
  6. NM_001258370.1NP_001245299.1  protein diaphanous homolog 3 isoform g

    See identical proteins and their annotated locations for NP_001245299.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' and 3' UTR, lacks a portion of the 5' and 3' coding regions, and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform g) has shorter N- and C- termini compared to isoform a.
    Source sequence(s)
    AL137718, AL390878
    Consensus CDS
    CCDS73579.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    Related
    ENSP00000479091.1, ENST00000498416.2
    Conserved Domains (3) summary
    pfam02181
    Location:373649
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:42225
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:134
    Drf_GBD; Diaphanous GTPase-binding Domain
  7. NM_030932.3NP_112194.2  protein diaphanous homolog 3 isoform b

    See identical proteins and their annotated locations for NP_112194.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTR, lacks a portion of the 5' and 3' coding regions, and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform b) has shorter N- and C- termini compared to isoform a.
    Source sequence(s)
    BC034952, BC068504
    Consensus CDS
    CCDS73580.1
    UniProtKB/Swiss-Prot
    Q9NSV4
    Related
    ENSP00000478137.1, ENST00000465066.5
    Conserved Domains (3) summary
    pfam02181
    Location:373745
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:42225
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:134
    Drf_GBD; Diaphanous GTPase-binding Domain

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.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    59665583..60163985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719876.1XP_006719939.1  protein diaphanous homolog 3 isoform X3

    See identical proteins and their annotated locations for XP_006719939.1

    Conserved Domains (3) summary
    pfam02181
    Location:373745
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:42225
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:134
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. XM_011535258.2XP_011533560.1  protein diaphanous homolog 3 isoform X2

    Conserved Domains (3) summary
    pfam02181
    Location:6361008
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:305488
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:115297
    Drf_GBD; Diaphanous GTPase-binding Domain
  3. XM_024449422.1XP_024305190.1  protein diaphanous homolog 3 isoform X1

    Conserved Domains (4) summary
    pfam02181
    Location:6361008
    FH2; Formin Homology 2 Domain
    pfam06345
    Location:10601074
    Drf_DAD; DRF Autoregulatory Domain
    pfam06367
    Location:305488
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:115297
    Drf_GBD; Diaphanous GTPase-binding Domain
  4. XM_017020789.1XP_016876278.1  protein diaphanous homolog 3 isoform X6

  5. XM_011535263.2XP_011533565.1  protein diaphanous homolog 3 isoform X4

    Conserved Domains (4) summary
    pfam03938
    Location:499551
    OmpH; Outer membrane protein (OmpH-like)
    pfam06367
    Location:305488
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:115297
    Drf_GBD; Diaphanous GTPase-binding Domain
    cl19758
    Location:636691
    FH2; Formin Homology 2 Domain
  6. XM_011535265.2XP_011533567.1  protein diaphanous homolog 3 isoform X5

    Conserved Domains (4) summary
    pfam03938
    Location:499551
    OmpH; Outer membrane protein (OmpH-like)
    pfam06367
    Location:305488
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:115297
    Drf_GBD; Diaphanous GTPase-binding Domain
    cl19758
    Location:636691
    FH2; Formin Homology 2 Domain

RNA

  1. XR_002957479.1 RNA Sequence

  2. XR_002957478.1 RNA Sequence

  3. XR_002957480.1 RNA Sequence

  4. XR_941672.1 RNA Sequence

  5. XR_002957477.1 RNA Sequence

  6. XR_001749694.1 RNA Sequence

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