Format

Send to:

Choose Destination

SPTBN4 spectrin beta, non-erythrocytic 4 [ Homo sapiens (human) ]

Gene ID: 57731, updated on 4-Jun-2020

Summary

Official Symbol
SPTBN4provided by HGNC
Official Full Name
spectrin beta, non-erythrocytic 4provided by HGNC
Primary source
HGNC:HGNC:14896
See related
Ensembl:ENSG00000160460 MIM:606214
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
QV; CMND; SPNB4; NEDHND; SPTBN3
Summary
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 4.1), testis (RPKM 0.9) and 9 other tissues See more
Orthologs

Genomic context

See SPTBN4 in Genome Data Viewer
Location:
19q13.2
Exon count:
40
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40467001..40576464)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40973050..41082365)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372489 Neighboring gene SERTA domain containing 3 Neighboring gene biliverdin reductase B Neighboring gene SH3KBP1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene latent transforming growth factor beta binding protein 4

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1642

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ankyrin binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cortical anchor activity TAS
Traceable Author Statement
more info
PubMed 
phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
spectrin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
actin filament capping IEA
Inferred from Electronic Annotation
more info
 
adult walking behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system projection neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
clustering of voltage-gated sodium channels ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
fertilization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of heart rate ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
transmission of nerve impulse ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle-mediated transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
actin filament ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
axon hillock ISS
Inferred from Sequence or Structural Similarity
more info
 
axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
 
cell body fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intercalated disc IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
paranode region of axon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
spectrin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
spectrin beta chain, non-erythrocytic 4
Names
beta-IV spectrin
spectrin beta chain, brain 3
spectrin, non-erythroid beta chain 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_029905.1 RefSeqGene

    Range
    4783..114245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020971.3NP_066022.2  spectrin beta chain, non-erythrocytic 4 isoform sigma1

    See identical proteins and their annotated locations for NP_066022.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (sigma1) represents the longer transcript and encodes the longer isoform (sigma1), also known as the 289 kDa isoform.
    Source sequence(s)
    AB046862, AC020929, AF311855, AI962525
    Consensus CDS
    CCDS12559.1
    UniProtKB/Swiss-Prot
    Q9H254
    Related
    ENSP00000469242.1, ENST00000598249.6
    Conserved Domains (7) summary
    smart00150
    Location:10911195
    SPEC; Spectrin repeats
    cd00014
    Location:181284
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:15161727
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:24212525
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:24192527
    PH; PH domain
    pfam00435
    Location:18341933
    Spectrin; Spectrin repeat
    cl02488
    Location:311419
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_025213.3NP_079489.2  spectrin beta chain, non-erythrocytic 4 isoform sigma5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (sigma5) contains a distinct 5' and 3' UTR and lacks an in-frame portion of the 5' and 3' coding region, compared to variant sigma1. The resulting isoform (sigma5), also known as the 77 kDa isoform, has distinct and shorter N- and C-termini when compared to isoform sigma1.
    Source sequence(s)
    AC020929, AF311856, DA514440
    Consensus CDS
    CCDS42569.1
    UniProtKB/Swiss-Prot
    Q9H254
    Related
    ENSP00000375877.1, ENST00000392023.1
    Conserved Domains (1) summary
    cd00176
    Location:192403
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40467001..40576464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527173.2XP_011525475.1  spectrin beta chain, non-erythrocytic 4 isoform X3

    Conserved Domains (4) summary
    smart00150
    Location:10911195
    SPEC; Spectrin repeats
    cd00014
    Location:181284
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:15161727
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:18341933
    Spectrin; Spectrin repeat
  2. XM_017027051.1XP_016882540.1  spectrin beta chain, non-erythrocytic 4 isoform X4

    Related
    ENSP00000470693.1, ENST00000595535.5
  3. XM_017027052.1XP_016882541.1  spectrin beta chain, non-erythrocytic 4 isoform X5

  4. XM_017027049.1XP_016882538.1  spectrin beta chain, non-erythrocytic 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9H254
    Conserved Domains (7) summary
    smart00150
    Location:10911195
    SPEC; Spectrin repeats
    cd00014
    Location:181284
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:15161727
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:24212525
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:24192527
    PH; PH domain
    pfam00435
    Location:18341933
    Spectrin; Spectrin repeat
    cl02488
    Location:311419
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  5. XM_017027050.1XP_016882539.1  spectrin beta chain, non-erythrocytic 4 isoform X2

Support Center