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CRYAB crystallin alpha B [ Homo sapiens (human) ]

Gene ID: 1410, updated on 15-May-2016
Official Symbol
CRYABprovided by HGNC
Official Full Name
crystallin alpha Bprovided by HGNC
Primary source
HGNC:HGNC:2389
See related
Ensembl:ENSG00000109846 HPRD:00428; MIM:123590; Vega:OTTHUMG00000166885
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
MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101
Summary
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Orthologs
Location:
11q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (111908620..111913213, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111779350..111782473, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ferredoxin-fold anticodon binding domain containing 1 Neighboring gene chromosome 11 open reading frame 1 Neighboring gene ribosomal protein L37a pseudogene 8 Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene uncharacterized LOC105369494 Neighboring gene heat shock protein family B (small) member 2 Neighboring gene chromosome 11 open reading frame 52

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of crystallin, alpha B (CRYAB) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat peptide enhances entry of alpha B crystallin into lens cells PubMed

Go to the HIV-1, Human Interaction Database

  • Longevity regulating pathway - multiple species, organism-specific biosystem (from KEGG)
    Longevity regulating pathway - multiple species, organism-specific biosystemAging is a complex process of accumulation of molecular, cellular, and organ damage, leading to loss of function and increased vulnerability to disease and death. Despite the complexity of aging, rec...
  • Longevity regulating pathway - multiple species, conserved biosystem (from KEGG)
    Longevity regulating pathway - multiple species, conserved biosystemAging is a complex process of accumulation of molecular, cellular, and organ damage, leading to loss of function and increased vulnerability to disease and death. Despite the complexity of aging, rec...
  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
unfolded protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
apoptotic process involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to gamma radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
microtubule polymerization or depolymerization IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intracellular transport IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
protein folding IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
stress-activated MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
tubulin complex assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Z disc IEA
Inferred from Electronic Annotation
more info
 
actin filament bundle IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
alpha-crystallin B chain
Names
crystallin, alpha B
epididymis secretory protein Li 101
heat shock protein beta-5
heat-shock 20 kD like-protein
renal carcinoma antigen NY-REN-27
rosenthal fiber component

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_009824.2 RefSeqGene

    Range
    15510..20103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289807.1NP_001276736.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_001276736.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC007008, BF339748, BI759672, BM721803, DB506606
    Consensus CDS
    CCDS8351.1
    UniProtKB/Swiss-Prot
    P02511
    UniProtKB/TrEMBL
    V9HW27
    Conserved Domains (3) summary
    cd06498
    Location:67150
    ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...
    COG0071
    Location:11161
    IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
    pfam00525
    Location:159
    Crystallin; Alpha crystallin A chain, N terminal
  2. NM_001289808.1NP_001276737.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_001276737.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC007008, BE076509, BF339748, BI548180, BM721803
    Consensus CDS
    CCDS8351.1
    UniProtKB/Swiss-Prot
    P02511
    UniProtKB/TrEMBL
    V9HW27
    Related
    ENSP00000436051, OTTHUMP00000234278, ENST00000526180, OTTHUMT00000391654
    Conserved Domains (3) summary
    cd06498
    Location:67150
    ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...
    COG0071
    Location:11161
    IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
    pfam00525
    Location:159
    Crystallin; Alpha crystallin A chain, N terminal
  3. NM_001885.2NP_001876.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_001876.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC007008, BF339748, BM721803, DB506606
    Consensus CDS
    CCDS8351.1
    UniProtKB/Swiss-Prot
    P02511
    UniProtKB/TrEMBL
    V9HW27
    Related
    ENSP00000483554, ENST00000616970
    Conserved Domains (3) summary
    cd06498
    Location:67150
    ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...
    COG0071
    Location:11161
    IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
    pfam00525
    Location:159
    Crystallin; Alpha crystallin A chain, N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    111908620..111913213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542608.1XP_011540910.1  

    See identical proteins and their annotated locations for XP_011540910.1

    UniProtKB/Swiss-Prot
    P02511
    UniProtKB/TrEMBL
    V9HW27
    Conserved Domains (3) summary
    cd06498
    Location:67150
    ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...
    COG0071
    Location:11161
    IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
    pfam00525
    Location:159
    Crystallin; Alpha crystallin A chain, N terminal
  2. XM_011542609.1XP_011540911.1  

    See identical proteins and their annotated locations for XP_011540911.1

    UniProtKB/TrEMBL
    A0A024R3B9
    Related
    ENSP00000435046, OTTHUMP00000234280, ENST00000533280, OTTHUMT00000391656
    Conserved Domains (2) summary
    COG0071
    Location:694
    IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
    cl00175
    Location:183
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    111662424..111667017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)