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SPTB spectrin beta, erythrocytic [ Homo sapiens (human) ]

Gene ID: 6710, updated on 4-Oct-2020

Summary

Official Symbol
SPTBprovided by HGNC
Official Full Name
spectrin beta, erythrocyticprovided by HGNC
Primary source
HGNC:HGNC:11274
See related
Ensembl:ENSG00000070182 MIM:182870
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
EL3; HS2; SPH2; HSPTB1
Summary
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Expression
Biased expression in bone marrow (RPKM 15.7), heart (RPKM 8.2) and 8 other tissues See more
Orthologs

Genomic context

See SPTB in Genome Data Viewer
Location:
14q23.3
Exon count:
38
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (64744106..64879907, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65213001..65346604, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 36 Neighboring gene nucleoporin 50 pseudogene 1 Neighboring gene pleckstrin homology and RhoGEF domain containing G3 Neighboring gene microRNA 7855 Neighboring gene uncharacterized LOC105370534 Neighboring gene ribonuclease P RNA component H1, 2 pseudogene

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

Associated conditions

Description Tests
Elliptocytosis 3
MedGen: C1866810 OMIM: 617948 GeneReviews: Not available
Compare labs
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Spherocytosis type 2
MedGen: C2674219 OMIM: 616649 GeneReviews: Not available
Compare labs

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding TAS
Traceable Author Statement
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
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
 
axon guidance TAS
Traceable Author Statement
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intrinsic component of the cytoplasmic side of the plasma membrane TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
spectrin IEA
Inferred from Electronic Annotation
more info
 
spectrin-associated cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
spectrin beta chain, erythrocytic
Names
Sp beta
beta-I spectrin
membrane cytoskeletal protein
spectrin beta Tandil
spectrin beta chain, erythrocyte

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_016202.2 RefSeqGene

    Range
    4986..138610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1130

mRNA and Protein(s)

  1. NM_001024858.4NP_001020029.1  spectrin beta chain, erythrocytic isoform a

    See identical proteins and their annotated locations for NP_001020029.1

    Status: REVIEWED

    Source sequence(s)
    AB209415, AK094815, AL121774, BC010434, BX248270, CN370674, M37884
    UniProtKB/Swiss-Prot
    P11277
    Related
    ENSP00000374372.3, ENST00000389722.7
    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    COG5069
    Location:48438
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530742
    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:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat
  2. NM_001355436.2NP_001342365.1  spectrin beta chain, erythrocytic isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL121774, AL135745
    Consensus CDS
    CCDS32099.1
    Related
    ENSP00000495909.1, ENST00000644917.1
    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    COG5069
    Location:48438
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530742
    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:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat
  3. NM_001355437.2NP_001342366.1  spectrin beta chain, erythrocytic isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. This variant is also referred to as muscle beta spectrin.
    Source sequence(s)
    AL121774, AL135745
    Consensus CDS
    CCDS32100.1
    Related
    ENSP00000374370.4, ENST00000389720.4
    Conserved Domains (4) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    COG5069
    Location:48438
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530742
    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:422525
    Spectrin; Spectrin repeat

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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    64744106..64879907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021612.2XP_016877101.1  spectrin beta chain, erythrocytic isoform X1

    UniProtKB/Swiss-Prot
    P11277
    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    COG5069
    Location:48438
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530742
    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:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat
  2. XM_024449699.1XP_024305467.1  spectrin beta chain, erythrocytic isoform X1

    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    COG5069
    Location:48438
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:530742
    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:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat
  3. XM_011537105.3XP_011535407.1  spectrin beta chain, erythrocytic isoform X2

    Conserved Domains (4) summary
    smart00033
    Location:177273
    CH; Calponin homology domain
    cd00014
    Location:55158
    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:530742
    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:422525
    Spectrin; Spectrin repeat

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_000347.5: Suppressed sequence

    Description
    NM_000347.5: This RefSeq was removed because currently there is insufficient support for the transcript.
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