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

Gene ID: 6710, updated on 25-Oct-2014
Official Symbol
SPTBprovided by HGNC
Official Full Name
spectrin, beta, erythrocyticprovided by HGNC
Primary source
HGNC:HGNC:11274
See related
Ensembl:ENSG00000070182; HPRD:01686; MIM:182870; Vega:OTTHUMG00000171550
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]
See SPTB in Epigenomics, MapViewer
Location:
14q23-q24.2
Exon count:
37
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (64746283..64879883, 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 nucleoporin 50 pseudogene 1 Neighboring gene uncharacterized LOC101927856 Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 3 Neighboring gene microRNA 7855 Neighboring gene CHURC1-FNTB readthrough Neighboring gene churchill domain containing 1 Neighboring gene glutathione peroxidase 2 (gastrointestinal)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

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

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
    Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
Products Interactant Other Gene Complex Source Pubs Description

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 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
structural constituent of cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament capping IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
plasma membrane organization IEA
Inferred from Electronic Annotation
more info
 
porphyrin-containing compound biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm 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 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 
Preferred Names
spectrin beta chain, erythrocytic
Names
spectrin beta chain, erythrocytic
beta-I spectrin
membrane cytoskeletal protein
spectrin beta chain, erythrocyte

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_016202.1 

    Range
    5001..81866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000347.5NP_000338.3  spectrin beta chain, erythrocytic isoform b

    See proteins identical to NP_000338.3

    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)
    AB209415, BM681142, X59511
    Consensus CDS
    CCDS32100.1
    UniProtKB/Swiss-Prot
    P11277
    UniProtKB/TrEMBL
    Q59FP5
    Related
    ENSP00000374371, OTTHUMP00000246404, ENST00000389721, OTTHUMT00000414080
    Conserved Domains (4) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    cd00014
    Location:174277
    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
  2. NM_001024858.2NP_001020029.1  spectrin beta chain, erythrocytic isoform a

    See proteins identical to NP_001020029.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB209415, AK094815, BC010434, BX248270, CN370674, M37884
    Consensus CDS
    CCDS32099.1
    UniProtKB/Swiss-Prot
    P11277
    UniProtKB/TrEMBL
    Q59FP5
    UniProtKB/TrEMBL
    Q86TX9
    Related
    ENSP00000374372, ENST00000389722
    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    cd00014
    Location:174277
    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; ...
    cd10571
    Location:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    64746283..64879883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268023.2XP_005268080.1  

    See proteins identical to XP_005268080.1

    UniProtKB/Swiss-Prot
    P11277
    Related
    ENSP00000451752, OTTHUMP00000246401, ENST00000556626, OTTHUMT00000414076
    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    cd00014
    Location:174277
    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; ...
    cd10571
    Location:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat
  2. XM_006720241.1XP_006720304.1  

    See proteins identical to XP_006720304.1

    UniProtKB/Swiss-Prot
    P11277
    Conserved Domains (5) summary
    smart00150
    Location:13851475
    SPEC; Spectrin repeats
    cd00014
    Location:174277
    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; ...
    cd10571
    Location:21812286
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:422525
    Spectrin; Spectrin repeat

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    45384969..45462806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    65152596..65229440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)