LOCUS NG_009824 10124 bp DNA linear PRI 05-MAR-2010 DEFINITION Homo sapiens crystallin, alpha B (CRYAB) on chromosome 11. ACCESSION NG_009824 VERSION NG_009824.1 GI:223972692 KEYWORDS RefSeqGene. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AP000907.6. Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. 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 (sHSP also known as the 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. 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. [provided by RefSeq]. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-10124 AP000907.6 8243-18366 c FEATURES Location/Qualifiers source 1..10124 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="11" /map="11q22.3-q23.1" STS 2634..3274 /standard_name="HSPB2_2418" /db_xref="UniSTS:280769" STS 2656..2780 /standard_name="WI-17363" /db_xref="UniSTS:71950" STS 2738..2860 /standard_name="STS-S67070" /db_xref="UniSTS:32091" STS 2779..3952 /db_xref="UniSTS:486646" STS 2808..3945 /db_xref="UniSTS:482396" STS 4032..5056 /standard_name="PMC123035P1" /db_xref="UniSTS:270427" STS 4272..4712 /standard_name="GDB:197835" /db_xref="UniSTS:155957" STS 4845..4949 /standard_name="D11S3407" /db_xref="UniSTS:152648" gene 5001..8124 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /note="crystallin, alpha B" /db_xref="GeneID:1410" /db_xref="HGNC:2389" /db_xref="MIM:123590" mRNA join(5001..5226,6301..6423,7783..8124) /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /product="crystallin, alpha B" /transcript_id="NM_001885.1" /db_xref="GI:4503056" /db_xref="GeneID:1410" /db_xref="HGNC:2389" /db_xref="MIM:123590" exon 5001..5226 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /inference="alignment:Splign:1.39.8" /number=1 CDS join(5026..5226,6301..6423,7783..7986) /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /note="heat-shock 20 kD like-protein; alpha crystallin B chain; alpha B crystallin; alpha(B)-crystallin; heat shock protein beta-5; rosenthal fiber component; renal carcinoma antigen NY-REN-27; alpha-crystallin B chain" /codon_start=1 /product="alpha-crystallin B chain" /protein_id="NP_001876.1" /db_xref="GI:4503057" /db_xref="CCDS:CCDS8351.1" /db_xref="GeneID:1410" /db_xref="HGNC:2389" /db_xref="MIM:123590" STS 5801..6310 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /standard_name="CRYA2" /db_xref="UniSTS:43082" exon 6301..6423 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /inference="alignment:Splign:1.39.8" /number=2 exon 7783..8124 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /inference="alignment:Splign:1.39.8" /number=3 STS 7845..7990 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /standard_name="D11S2244E" /db_xref="UniSTS:32037" STS 7872..8051 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /standard_name="RH17897" /db_xref="UniSTS:18881" STS 7985..8109 /gene="CRYAB" /gene_synonym="CRYA2; CTPP2; HSPB5" /standard_name="SHGC-31520" /db_xref="UniSTS:12481" ORIGIN 1 acctcatatg cctaaagcag cattaataga agcctgaagt gataaacaag gatattgatt 61 attccactga agtctgtacc agtcaatcca tgactggaat aataatttta ggtctagatg 121 ttgaatttca agttacgttg tcaaaaggca gtatgttcaa aataaagtta tctgggtaat 181 atgtgatgtg gaaagtgctg tatgatatgg ttgaaagaac aaggcatggc tgggtgtggt 241 ggctcacgcc tgtaacccca atgtgttggg aggccgaggt gggcagattg cttgaggcca 301 gaagttcaag actagcctgg acaacatggc gaaacccagt ctctacaaaa aattagccag 361 gtgttgtggc gcatgcctgt agcctcagtt actcaggagg ttgaggtggg aggattgctt 421 gagcccagga ggaggaggtt gcagtgaggg gagatgacac cactgtacac ccagcctcgg 481 tgacagagag agactttgtc ttaaaaaaaa aaaaaagaac taggcatgtt tagctgggaa 541 agggaagcct caggaagaca ggatggttat ctttaaatat cagaaggatt ttcagtgaaa 601 aaaccattgt gtttgttttc cagagaagtt actgaaatgc agattttgat tcaacaaaag 661 gaggaattta taacggttaa gtcagttaag accaaaaaga aaatggaagg ccaggtacag 721 aggctcacac ctgtaatccc agtactgtgg cagaccaagg atagaggatt gcttgagtcc 781 aggagttcaa gaccagcctg gacaacaagg cgagacctca tctccagaaa aagtaaaaaa 841 ttagccaggc gtggtggcac acacctgtag tcccagctac tcaggaggct gaggcaggag 901 gattgcttga gcaagggagg ttgaggctgc agtgagccat gatcatgcca ctgcactcca 961 tcctgagcaa cagaacaaga ccctgtctaa aaaagaaaag aaagaacatg gaaacgacta 1021 ccgtgagaag ttctaagttg tctgttattc agaatgtccc cgaataagtt gattaataac 1081 tttaaaagca tttgaatgga gaggggattt ggactaaatc agaagttttc aaatttctta 1141 tagctaggaa accctttcct ttaaataaag ctcagttaca aaacatatca atgtgaagct 1201 attttggttg aagtctaagt agaatccttt tcttattatt tttcttctca actagattct 1261 ggaaagttga caataaaagc taatagtttt tataatttat atttacaatg tatatccccc 1321 aaggtgtatt acatgaggtt tgataaatat ttactgaatg aatgaatgaa cagttaaata 1381 tgtcaaatgt tatttctctg gggcatgctt tcatttttaa tagacagcaa tcttttaacc 1441 aaaagtcgaa ttcctcaagt gagttctgtt atcctggagg tccacagatc cctaaggggg 1501 gtatgtgaat gggtcttaag agttgtggga acctattcaa attgtattgc caaatttggg 1561 agcatatgta tttttctggt aagagcagct atagcttttg tcagattttc agaagggtct 1621 ataactccca aaagttaaga aacaaccact taatttaatt caattcaatt taattttttt 1681 gaggcagggt ctcactctgt cacccaggct ggagtgcagt ggcgcaatct cagctcactg 1741 cagcttcaac ctccctagct catcctccca cctcagcctc ccaagtagct gggactacag 1801 gcatgcacca ccatgcctgg ctaattttta tttttttgta gagacaaggt tgcactctat 1861 tgcccaggct ggtctcttac tcttgggctc aagtgatcct cctgcctcgg cctcccaaag 1921 tactgggatt acaggtgtga gctgctgcac ccagccaaga aacaactgct ttaatggaag 1981 aattgtaggt atctaccaca gcctaatgaa atatgtattt ggaggcagga aggtcttttg 2041 gacacttccc ccaaatcatg tagctggatg ttctcttgat tgcagagaat aactgagggg 2101 acagacctca ggctttcctg aatacaccgt acccccagag gatgggaagg taatggggtt 2161 ccgtgataat tggagaggct ttgtgtctgt gccctgtgta tgcatactca ggctctcaaa 2221 atcagtgacc atttaagtgg acagacctta gtacatgaaa acaaagtatt cactccagga 2281 ctttaggcaa ctctcaccag ccaaaaacca ttttcccagc ccctacccaa aaagggccag 2341 acagtctgga gacccttgtt tttgtgtctc taatcaccag ctcagacagt gccctctggg 2401 ctgtttggat ggcatatccc ttttccctcc caggatcact ctctcttttg ttgcattgtg 2461 agaaaattat ggctaggaat ttgatctgga gccagagtca gcttccgggt gtgatctcag 2521 catccaagtg cgagctcagg gtcctatgac gttgggcaca tcaaactgag gagctttttg 2581 tctagctggc tgtgacctcc tccctccctc cccatcccag cttcccggcc acagaatagg 2641 gagcagtaca aacaaggccc tgagatttgg gtttattcag ctccacccaa aactaaacca 2701 aggctatgac atgtcccatg ggaccaaacc atacattgtg gaccatgcac ctttcccttc 2761 ccccaaggat gctgctacct ctggagtggt gggcagctgc ccatatcacc ttgggaggta 2821 gagagggatt tgctgggtgc tgggtctgtg gcaatcaggg ctcaactatg gctgcctcct 2881 cctcttcctc tggatcagga ggcgcaggga gcagggagat gtagacctca ttgacctctg 2941 tgtccaaatg tcggccaccc cgaggtgctt ccaggtttaa gatgccatca tgggagagag 3001 cagctcggac tcgccagggg tcgacatcag caggcaggac ataggtgcgg cagaactctc 3061 gggacacgaa gccgtggcgg tccaggcgct gggggtgccg ggcagacacc tccagcaggt 3121 tatccacagt cctcacagtc acctcgtctg gggtaaagtg gctcacatcc agaaatgcct 3181 ggaacttgcc ctcactgagc ctaagctcgg aggcccctgc cctgctgccc tccccagctg 3241 gggcggcccg aggccggaca tagtagccat ggtagagtgt gggggtcagg atctcttctg 3301 gcaggaggcc taaagggcag agagaaggca agaggcagga tgagggagga tgaggctggc 3361 acaggggcga aatgggaaat ctggagagga gggattggga agagcaagag gggagtcagg 3421 aggagtaggg aacgggaggg aggccacact gtagctagga ggagaaggca gctcggaaga 3481 ggggaaagag aacggaaagg taagggagga ggaggaggag aaggaggagg agggggagga 3541 ggaggaggca ccaaacggcc tgggtggata gaagggggac aaggaggcac acccaggccg 3601 gcaaagagca ggtatcagca ctgcaagcac caagtgtgtc ttgaggtcag caggaatggg 3661 aaagatctct gcttggaggg gatgaggggt agtctggggt ggggggtggc tggtcccagg 3721 agatcagtta agcccagagt ggggtggagg ccagcaacgt tgggaggtca gcccagaatt 3781 tcagggggtg ggggtggggg gcaagggggt ggtgtctgtg ccataccttc tccgaagcgc 3841 tgctcaccca ggcggctcgg gttggcaaat tcgtactcgg cggtggccgg gtgggcatgt 3901 ggcactgagc ggcccgacat ggctgcagat gcagcagaag ccctggtccg aggtgcagcc 3961 ccaacaggcg cagcgcgacc cctccagctg cccggagagc cagggctcga taggaggtgg 4021 gggcggggtc gacaccaccc aaaatagtgc cgagcctctt ggggggggag gggctgggag 4081 tgggggccct gagtgagagc aacgagggtg tgaccagcgc cgcccggacc cctagtcccc 4141 tcccccgcac actcttcagc tgtcgcaggg ggcctgagag gacagctgag ggtcctggct 4201 gggaacgagc tggggagggg gagctggtgg tgcctggggc atgaagaggc ctcgctgaga 4261 ccctcacaaa cggtttgcac gtttccacac ctcattttct cctcttcggt ggcaggcact 4321 gtgcacccaa ttcctaaagc actcctggat ttaatgttct gagagccaca tagaacgaaa 4381 gatgcaagaa atctgtttgc tcttttttca gggggtgggg tctttctgcc cagatgtggg 4441 atcctctcct aaacccaggt caacccaggg cacgaggcag atggctggtg ctgacatgtt 4501 gaccatcact gctctcttcc aaggactcac aaagagttaa tgtccctggg gctcagccta 4561 ggaagattcc agtccctgcc caggcccaag atagttgctg gcctgattcc cctggcattc 4621 aggactggaa aggaggagga ggggcacact acgccggctc ccatcctccc cccaccccgc 4681 gtgcctgctt gggattcctg actctgtacc agcttcagag aacaggggtg ggggtgggtg 4741 ccattgggtg tggacagaaa gctagtgaaa caagaccatg acaagtcact ggccggctca 4801 gacgtgtttg tgtctctctt ttcttagctc agtgagtact gggtatgtgt cacattgcca 4861 aatcccggat cacaagtctc catgaactgc tggtgagcta ggataataaa acccctgaca 4921 tcaccattcc agaagcttca caagactgca tatataaggg gctggctgta gctgcagctg 4981 aaggagctga ccagccagct gacccctcac actcacctag ccaccatgga catcgccatc 5041 caccacccct ggatccgccg ccccttcttt cctttccact cccccagccg cctctttgac 5101 cagttcttcg gagagcacct gttggagtct gatcttttcc cgacgtctac ttccctgagt 5161 cccttctacc ttcggccacc ctccttcctg cgggcaccca gctggtttga cactggactc 5221 tcagaggtga gtctccccac agctaggacg ggagagtcct tactggaacc tcctggaaac 5281 ttctccatcc attttccttt cctaccctgc ctaaaccatt ttaggcacat gtgtgtccaa 5341 atgtgaagaa aaatgaggag gttgctagtg ccttcctccc ccatcacctg tttctatttg 5401 atagtcctct gtatcccatt tattacattt tttcatgcac tgtcaagttt atcctccgtc 5461 ccctaacttc tctacaggat acccctttct ggtttggttc atgacaatct gcagggaaag 5521 agctgccttc aaactccttt gcttatctct tccaacacct tggactcttg accgatttta 5581 ccatctcagg tttcagagcc aggagagagc cctgcctcat cctgagctgt tcatccccat 5641 gggtattttc tgcctttcta ttccctcttc tatgattttc tgggtttctc agggctacga 5701 cagggcgctg gcctgggtcc aatcaagccc tacgaggaaa caatataggg acgcccattt 5761 gtcctaagag ggtggaagaa cagggtgaac aaataaggtt gacagagctg tcacagataa 5821 cactctggtt taaaaatatt caagtgtgag taaacaggag ctgagtgggc aagggctttg 5881 gaaggacaag caggaccagc agaacattcc agattgggtg ggtggaaaac tggcaaagag 5941 acctgagcca gaagaagagg cctttgtctc acagacaaac cacaaagcca ggcattggag 6001 tcagagaggc agcagatgcc aggcttgcac ccatccttgc gactggtccc ctgggtgatc 6061 tgtcttcttc tctgtccctg taaataaagt ttgggtctga tcaccatgag ccttaggtat 6121 cactgtggtg gctccctgaa gcagacagct atgtttattt aaaaaggaga ttttttaagc 6181 agagaagaga aggatgaatt acccggacag aaagcagctc tgcagaataa gacagcacct 6241 gtgtaatcag tatttttgcc ctctttctcc catcccattc ccttaccttg ctatttctag 6301 atgcgcctgg agaaggacag gttctctgtc aacctggatg tgaagcactt ctccccagag 6361 gaactcaaag ttaaggtgtt gggagatgtg attgaggtgc atggaaaaca tgaagagcgc 6421 caggtatgta gcttgttttt ttgttttctg ctcattcatt cagtgcatac tgtaatagtc 6481 caggtagtgc tatcagcttt ggaggctggc tacattccag tcccaagcca taacagtcgg 6541 gatcaggggt tacaaatcaa tgtctagaag actaagttag gatagacata ttgctgttgt 6601 tactattatg gccagagatg tggcctttga tttgatcgcc ttagatggga tgatgggatg 6661 ctgatgcccc atttaagcca gtggttctga atctgggcca cattagaatc accaggggaa 6721 ctttcaaaaa acctaatgct cgggcatact ccagaccaat tagcatatgt gctgccgaag 6781 cgagcactac tccagaccaa ttaaatcagc atttttaagg gtgggaccca ggcatcagca 6841 atttttaagg taattctaat ctacagtcaa ggttgagaac cactgattag gtatagggct 6901 gtcagacacc tagttgcttt gcataattac attaactaca ggtaccctaa aagcacttga 6961 gttgtgactt ctcttttagc tgtgcaagaa tccgtgtctc ttctttagcc catcttaatg 7021 ctgaactact tggtttgtct aaatttcaga gctgtgctca gtctttaatc ccctacagcc 7081 catgtggtaa tcagttaacg agagcctgtt tggctacatg cttgagagtc agcaggcata 7141 cgggttaagg tcatctactc tttgggggag ttctgacaaa tggaacagct tgttatgact 7201 ttataagagg gctttaaaat tgcttctcac catttaacga tagctcagaa cctgtgcgtc 7261 aaccagtaca gtttgtcctc agtaatgtcc tcaggctgtt tcaattttgc ttatatgatt 7321 taggtttggg tcatagtctc cttggatgga gtcatttttt ttttttttta atttcagcag 7381 cagtcctatt gttctggaac cttctgggac attcctgaag agtcaggaca atttcagggc 7441 ttcctcaggg actcagattc taaatgagat tccaaattct gtaggcccag ccaacattga 7501 tctaaacctt tgggaaatac ccctaaacat atctatgcct cagggtttga aaaacaatga 7561 agtgttggac tgtttcagac ttctcagatt ctcactggta ggagtgacta cctaggcaat 7621 ttcatcttag ctgcaaccct gaaacgaagc tctatttatt tttcctatgt tgtcatggca 7681 tttggtctca cctaagggga aatcaggatg cctgagttct gggcaggtga taatagttcc 7741 tgttcttatc tctctgcctc tttcctcatt cttttgggtt aggatgaaca tggtttcatc 7801 tccagggagt tccacaggaa ataccggatc ccagctgatg tagaccctct caccattact 7861 tcatccctgt catctgatgg ggtcctcact gtgaatggac caaggaaaca ggtctctggc 7921 cctgagcgca ccattcccat cacccgtgaa gagaagcctg ctgtcaccgc agcccccaag 7981 aaatagatgc cctttcttga attgcatttt ttaaaacaag aaagtttccc caccagtgaa 8041 tgaaagtctt gtgactagtg ctgaagctta ttaatgctaa gggcaggccc aaattatcaa 8101 gctaataaaa tatcattcag caacagataa ctgtcttgtg tttgaatatt ccacacactt 8161 ttaaataaat atacagatac cacagatcta tttatgattg cattatgatt tagagggctc 8221 caaggatttt agagtcagaa tgactgactt caccatttac tactggtata aatgtaggca 8281 agttgcttaa cctttctggt cttcaggttt tccatttata acatgggtta ctgagttgta 8341 cagaggaatt ataggaagta aattaaggag aagaagcagg aaaagccgct ggcagagttc 8401 aaggaatatt agttactctc tctctgccct ctttgatttt agctctcagt ttaaaggact 8461 ggaacacatc tgaatgaact ctggataacg ctacataaaa ggccttactg catctctaaa 8521 attaattaca tcaccaggga agacatggtg accctaatac tgtttgacat tttcctattg 8581 ataagcattg ccttaagctg atttacaagg gcaataaaca ggacttgggt gattatcacc 8641 taacaagctc tgaggtatag gctaaatcag tggcccccaa cctttttggc accagggact 8701 ggttttgtgg aagacaattt ttccatggcc ccgggggagc aggagatggt ttcaggatga 8761 ttcaagcatt agattctcat aaggagtaca taacctagat ctctcacatg tgcagttcac 8821 aataggattc atgctcatat gaaaatctaa tgccaccact gatgtgacag gaggtggagt 8881 tcagcttcac tcacctccta ctgtgcagcc tggttcctaa taggccacgg gccagtacca 8941 gtccatggcc tgggggttgg ggacccctgg tctaaattat ctagcaaaca cctactaacc 9001 taaggccagg gaatatccaa ttcaatgtcc taccacgtaa tagttaagtt ttagaattac 9061 aactaatagc caatcaataa gtggttctat tatttagctt aaagacatac cactgtacag 9121 aaaaatcctc cccaaaacaa aaaacaaccc tccatttcat ttctgtgggt ctggacaaaa 9181 cttctgattc acttgataaa cagcactgct gtaggtgatc tggtataaat gtttattgac 9241 aactcttatt ttttctttag caacttctag ctaatttctg atttcatgca aaatcagaag 9301 tcagtcagtt tggggactga ccagcgtttt gaaatattct acgtgaaaca attgcctaaa 9361 tttttttatg acatagaggg aaacaacaca cactggagcc tatcggagga tggaaggtga 9421 gagaagggtg agaatcagga aaaataccta atggttacta ggcttaatac ctgagttatg 9481 aaatagtctg tataacaaac ccctatgaca tgcatttacc tatgtaagaa aataaaggaa 9541 aaaaaagatc acaatgagaa tcactgagcc cctattagaa tgactaaaat gaaaaattga 9601 ctataccaac taaaacaaaa aatataaata aataaattta aaacttaata aaaaaattca 9661 tgatgcaggg gtgtggagct aggacaatat aaattgcaaa tctataccgg ttcaaaaatg 9721 ctttctctta aaaaacaact tcctaatagt ctgaaatact gtgatctagc cagaagttta 9781 cagccaattt ttgtggctgt gtagcagaca ctgttggttg cctaaccaac agctatttac 9841 caccttcagc cttgccaaca gtatcccaga ttggtttagg tatacaccat gttcttccta 9901 gccatgtgct tcagagaagt gaactcaagc tccagccata ggaggtctat cttgattagt 9961 ccaaatcaag cagggaaatt ctcttcttga ttttcaagat tattcttgaa agggctatga 10021 ctcaattatg gcaaatgaga caggagggaa gtctgttgga gatgcttcta gaaaaagttt 10081 ctaaactaag aaaagatttc agaaagattc agagagagag agag //