LOCUS NG_008892 8209 bp DNA linear PRI 13-NOV-2010 DEFINITION Homo sapiens titin-cap (telethonin) (TCAP), RefSeqGene on chromosome 17. ACCESSION NG_008892 VERSION NG_008892.1 GI:210147415 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 in collaboration with Johan den Dunnen. The reference sequence was derived from AC087491.5. This sequence is a reference standard in the RefSeqGene project. Summary: Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq]. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-8209 AC087491.5 90945-99153 FEATURES Location/Qualifiers source 1..8209 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="17" /map="17q12" gene <1..3856 /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /note="StAR-related lipid transfer (START) domain containing 3" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" mRNA join(<86..181,465..544,636..740,1906..1999,2459..3856) /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /product="StAR-related lipid transfer (START) domain containing 3" /transcript_id="NM_006804.3" /db_xref="GI:260763901" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" mRNA join(<86..181,465..544,636..740,1906..1999,2459..3856) /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /product="StAR-related lipid transfer (START) domain containing 3" /transcript_id="NM_001165937.1" /db_xref="GI:260763903" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" mRNA join(<86..181,465..544,636..740,1906..1999,2459..3856) /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /product="StAR-related lipid transfer (START) domain containing 3" /transcript_id="NM_001165938.1" /db_xref="GI:260763905" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" CDS join(<86..181,465..544,636..740,1906..1999,2459..2563) /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /exception="unclassified translation discrepancy" /note="isoform 1 is encoded by transcript variant 1; steroidogenic acute regulatory protein related; metastatic lymph node protein 64; MLN 64; START domain-containing protein 3; metastatic lymph node gene 64 protein; stAR-related lipid transfer protein 3" /codon_start=1 /product="stAR-related lipid transfer protein 3 isoform 1" /protein_id="NP_006795.3" /db_xref="GI:260763902" /db_xref="CCDS:CCDS11341.1" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" CDS join(<86..181,465..544,636..740,1906..1999,2459..2563) /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /exception="unclassified translation discrepancy" /note="isoform 2 is encoded by transcript variant 2; steroidogenic acute regulatory protein related; metastatic lymph node protein 64; MLN 64; START domain-containing protein 3; metastatic lymph node gene 64 protein; stAR-related lipid transfer protein 3" /codon_start=1 /product="stAR-related lipid transfer protein 3 isoform 2" /protein_id="NP_001159409.1" /db_xref="GI:260763904" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" CDS join(<86..181,465..544,636..740,1906..1999,2459..2563) /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /exception="unclassified translation discrepancy" /note="isoform 3 is encoded by transcript variant 3; steroidogenic acute regulatory protein related; metastatic lymph node protein 64; MLN 64; START domain-containing protein 3; metastatic lymph node gene 64 protein; stAR-related lipid transfer protein 3" /codon_start=1 /product="stAR-related lipid transfer protein 3 isoform 3" /protein_id="NP_001159410.1" /db_xref="GI:260763906" /db_xref="GeneID:10948" /db_xref="HGNC:17579" /db_xref="MIM:607048" STS 2605..2828 /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /standard_name="SHGC-31632" /db_xref="UniSTS:29983" STS 2930..3103 /gene="STARD3" /gene_synonym="CAB1; es64; FLJ41370; MLN64" /standard_name="RH91094" /db_xref="UniSTS:88309" gene 5001..6209 /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /note="titin-cap (telethonin)" /db_xref="GeneID:8557" /db_xref="HGNC:11610" /db_xref="MIM:604488" mRNA join(5001..5124,5371..6209) /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /product="titin-cap (telethonin)" /transcript_id="NM_003673.3" /db_xref="GI:209862803" /db_xref="GeneID:8557" /db_xref="HGNC:11610" /db_xref="MIM:604488" exon 5001..5124 /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /inference="alignment:Splign:1.39.8" /number=1 CDS join(5015..5124,5371..5764) /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /note="limb girdle muscular dystrophy 2G (autosomal recessive); titin cap protein; 19 kDa sarcomeric protein" /codon_start=1 /product="telethonin" /protein_id="NP_003664.1" /db_xref="GI:4507435" /db_xref="CCDS:CCDS11342.1" /db_xref="GeneID:8557" /db_xref="HGNC:11610" /db_xref="MIM:604488" exon 5371..6209 /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /inference="alignment:Splign:1.39.8" /number=2 STS 5397..6316 /standard_name="TCAP__5226" /db_xref="UniSTS:466506" STS 5939..6108 /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /standard_name="RH41770" /db_xref="UniSTS:55459" STS 5962..6104 /gene="TCAP" /gene_synonym="CMD1N; LGMD2G; T-cap; TELE; telethonin" /standard_name="RH66625" /db_xref="UniSTS:71999" gene 7909..>8209 /gene="PNMT" /gene_synonym="MGC34570; PENT; PNMTase" /note="phenylethanolamine N-methyltransferase" /db_xref="GeneID:5409" /db_xref="HGNC:9160" /db_xref="MIM:171190" mRNA 7909..>8209 /gene="PNMT" /gene_synonym="MGC34570; PENT; PNMTase" /product="phenylethanolamine N-methyltransferase" /transcript_id="NM_002686.3" /db_xref="GI:119220560" /db_xref="GeneID:5409" /db_xref="HGNC:9160" /db_xref="MIM:171190" CDS 8131..>8209 /gene="PNMT" /gene_synonym="MGC34570; PENT; PNMTase" /EC_number="2.1.1.28" /exception="unclassified translation discrepancy" /note="phenylethanolamine N-methylase; noradrenaline N-methyltransferase" /codon_start=1 /product="phenylethanolamine N-methyltransferase" /protein_id="NP_002677.1" /db_xref="GI:4505921" /db_xref="CCDS:CCDS11343.1" /db_xref="GeneID:5409" /db_xref="HGNC:9160" /db_xref="MIM:171190" ORIGIN 1 ctggtgggtg ccccccacca agagggaagg gttggtctgc ccgagcccat ctggcaccac 61 ccagccctct gccgccctgt cccagacctt cctgccctgt cctgcggagc tcgtgtacca 121 ggaggtgatc ctgcagcccg agaggatggt gctgtggaac aagacagtga ctgcctgcca 181 ggtgagccca gtctggctgc ctcttaaggc acagatgggg gcacagccac gcctcagtgg 241 gatcactgaa gcactcagcg cctcagctgc cccatctgta cagtgggtgt gatggtaaca 301 gtgcctgctc gggagggtcg ggaggagggc aggaggagtg ctcatcaggc gctgcccagg 361 gcctgcctgt ggcaatagca gttagtaaag gggcctgggg tgttcccatc cctggggttt 421 tcctggggcg acctgttcca aaagtctccg ttgacggccc tcagatcctg cagcgagtgg 481 aagacaacac cctcatctcc tatgacgtgt ctgcaggggc tgcgggcggc gtggtctccc 541 caaggtgagt ccatgccggg ccccctcctt tcagccaggt cttctgcact ttggccttgg 601 gtcattgtcc cctgaactaa ccctccctcc cgcagggact tcgtgaatgt ccggcgcatt 661 gagcggcgca gggaccgata cttgtcatca gggatcgcca cctcacacag tgccaagccc 721 ccgacgcaca aatatgtccg gtgagcctca ctttgcctgg ggtcacccct gccagcccct 781 cccctgggag cattgagcag tgcagggtac agcatgtaca gctgggcact tcccctgctg 841 aggctgcgtt cctgttccct gtcccgctgg gctctgctcc tcctggctac taatcctgct 901 aatcttgctg ctctgtctgt ggagatgggg ggtggtggac agctggaacc aagccaccaa 961 ggctggacgg gatgtgcggc ggtggctggc tggggtagac catggatggg gacccgtgca 1021 gggaaggggc ctgagagcca tgtgctcact ctgggctgat tgacctgagc aggaggctct 1081 atgctctggg tttcatcttc ctgcctaagg agactcgggt cccctttcgt cctcctcacc 1141 ctgtcctcac tccgtcatct ttctctggag tggctcagga gttcccccaa agataaaggg 1201 attatggcct tcccgcatct gtgcctgggc ttctggagtc ttcccttttg tccagtcagg 1261 ctgtggtgct gcgggtggcc ccctcccata gaccccactc ttccccatcc cctcctgggt 1321 tccagcagga gcactgttct ttgaatagga tgccaggctc tgctttgggc actggacaga 1381 cttgctgggt gcagggaagc tcacttcctc tctggatgcc aacttcctta tctgcagaat 1441 gggcttaggt gtgctcagtg gagctgaggg agaatgaaat ggtgatggga tgtgaaccgt 1501 gcctcccagg cttagccttc tcctgagcag gtgtcccctc ctgaagggga aggggtaaga 1561 agcgccagcc cagcctactc tgccatagca gggctgacct agaatctctg gacagagtgt 1621 atgagggctg ggaaggtggt gagctctctg tccctggggg tgtgcaagca ccaacaggcc 1681 gttgtaggag gattcaagca tcacagagtg ggtgggggtg gagggccgat tctgcagccc 1741 atgggacacc tgtgctaagc cttgttcaga tagggtagct ctgcctttct gcttccagcc 1801 cagtcccagc tgggccaaga atggagtgtg agtggtaggg gctgcggggg ggtgtcaggg 1861 cctcactctg ttccaaagtc cccccaatga tgcctctttc cataggggag agaatggccc 1921 tgggggcttc atcgtgctca agtcggccag taacccccgt gtttgcacct ttgtctggat 1981 tcttaataca gatctcaagg tggggtgctg gggggctgcc aggtgggttc tgtggagtgg 2041 aggggaccct gctgctgact tggttgctgc atgactttgg gggctctctg ccatgcctgg 2101 gcctcccctt tgtcagccac ctttcttact tgaaaatttg ggtcagggtc cagatggtct 2161 cttagccctg ggttgctgta gggcatgtgc ccccccttct tacctctgag tcctgaggcc 2221 ctgaggaagg gtggctggtg gccagcccgg ccccaccctg gtctgtttgt gttgctggtg 2281 ccaagagcca ggcccagcat gttcttcctg ccaggggtga gtgggagagg gcgacccagg 2341 ctggattcca gagctgcacc tgcattctgg cccagagccc ccctgctggt gccagctgca 2401 aggggagacc ctgctgaggg caggccatca agtgtgactt ctgcctgcct tcccccaggg 2461 ccgcctgccc cggtacctca tccaccagag cctcgcggcc accatgtttg aatttgcctt 2521 tcacctgcga cagcgcatca gcgagctggg ggcccgggcg tgactgtgcc ccctcccacc 2581 ctgcgggcca gggtcctgtc gccaccactt ccagagccag aaagggtgcc agttgggctc 2641 gcactgccca catgggacct ggccccaggc tgtcaccctc caccgagcca cgcagtgcct 2701 ggagttgact gactgagcag gctgtggggt ggagcactgg actccggggc cccactggct 2761 ggaggaagtg gggtctggcc tgttgatgtt tacatggcgc cctgcctcct ggaggaccag 2821 attgctctgc cccaccttgc cagggcaggg tctgggctgg gcacctgact tggctgggga 2881 ggaccagggc cctgggcagg gcagggcagc ctgtcacccg tgtgaagatg aaggggctct 2941 tcatctgcct gcgctctcgt cggttttttt aggattattg aaagagtctg ggacccttgt 3001 tggggagtgg gtggcaggtg ggggtgggct gctggccatg aatctctgcc tctcccaggc 3061 tgtccccctc ctcccagggc ctcctggggg acctttgtat taagccaatt aaaaacatga 3121 atttaaaaaa aaaaaaaaat tccagcccct cccactgcct tgcctcttga gggaagagaa 3181 aggcaggcag cagcttggat gaagagggaa gacccctcac acagcctctc ctgggctcac 3241 aggagggcgg agcccgggga gccagttcct gaaacatgcc ccccattccc cccccgccca 3301 ccccccactc cccgctttcc tgaccagttc aactgagcag atgactggtc agaaaaaaat 3361 gccccgcccc ctgccaggct tcagcggggc aagtttaaag tctctagtcc aggaatggag 3421 gtgggggtat gggcacctgg cagtgcccac agcaagcctt gactgtgtgg cctggagatg 3481 gggcctgagc ttcagggtca ctgaggcacc tctgggatcc aggccacctg gagccccgga 3541 cctcccagac tccactcacc cattccctct ccccgcacgg cactcacacc aggggcggcc 3601 tggagcccgg atcgcagggc ggggccaggc cactgcctgc cttcctcctc cctcccggct 3661 ggcctgcccc cttgcctgcc tgcatgcagg cttccagcag agccagcttc ttcagagcca 3721 ggtggatcct gtttcggtcc tgcctaggtg tgtgaccctg ggcgaatcta cctctctcag 3781 cttctgcttc ccactttatg aaaatgggac tgatgtcaca gggttgttat gagattaaaa 3841 gatatgaaga accggggaca gtgctcagta atcaatagtc tgcagttctg cacccacgtg 3901 ctcctgggta ctctgccgtc cccacagggt cctcagctca gcccctgtca ctgcctctcc 3961 tgccaccctt tgtccactcg gcagtgttct cactcctcat ccccccacac ccaccacctg 4021 tctgccagcc tcttgcacca tgagttgcta ctcctggggt gctggactgt ccccacagcc 4081 atctgtctcc cctgctcccc atgaagaaga gccagtcccc tcccaggtag cacatcagag 4141 cgggcaggct ccagagctct tctggtcctc ttgcagtggc cagaaagtgg ggaaaggggc 4201 ccagagaggg gcagggactg acccatggtc acacagccta tttatggctg atctggagcc 4261 aggccttctg actatcaccc atcagagccc ctggattccc atttcaccca acacaggtgt 4321 tggggtagaa ctgggggccc tccaccccta ctagcctgac tgtctcctga gacctgtctc 4381 ctaagaccac ttacctgacc actggccatg gggaaggaaa acacctggcc aaggctcatg 4441 ccccaggttc ccaggcatga agttgactgt ctccgcccct gctggtgtgg tgagggtgac 4501 tggggactag gcactaggcc tttggtgcag gcgcctgagg acgtggttgc actctccctt 4561 ctggggatat gcccttgagc ccaggcagag gagagcacag ccagggcagg acctggcagc 4621 cctggtacag agcccagagg gggcatcagt tcctgctggt cctgctctgt ttacagacaa 4681 gctgctgtcc tccctgcaaa ggggagtggg tggggcagag ggcaagtgcc aggggggcac 4741 aaggctgggc atgtggctgg catgagacgg tgtctgagta atgtcaggca cctggaggca 4801 ttgaccccag gaccttggac cccagacctc tgaccggggg gcagccagcg tccaggtacc 4861 ccaacccctg ccctgggtcc ggcgtccccc cattagtgag tcttggctct acttatagca 4921 tctgacacca gaggggccga aaatagcccc tggagaaggg ggaggagggg gctatttaaa 4981 gggcctggga ggggagagag aatgaggagt gatcatggct acctcagagc tgagctgcga 5041 ggtgtcggag gagaactgtg agcgccggga ggccttctgg gcagaatgga aggatctgac 5101 actgtccaca cggcccgagg aggggtgagt gtgggtctgc tagagccctg cctctgctcc 5161 cccagagcac cctcactgag ccatgaggcc agagcatgaa gccctggaga aatttctggg 5221 ggtgggggca ggaagaatgc cccatgggga gagcaaaggg gaaccaccct tcctgccccc 5281 aggtcccagc agcccagggg agccccccac ccagcctgtg cccagagagc aacagctccc 5341 aggagctcac tgcccctccc ctctccccag ctgctccctg catgaggagg acacccagag 5401 acatgagacc taccaccagc aggggcagtg ccaggtgctg gtgcagcgct cgccctggct 5461 gatgatgcgg atgggcatcc tcggccgtgg gctgcaggag taccagctgc cctaccagcg 5521 ggtactgccg ctgcccatct tcacccctgc caagatgggc gccaccaagg aggagcgtga 5581 ggacaccccc atccagcttc aggagctgct ggcgctggag acagccctgg gtggccagtg 5641 tgtggaccgc caggaggtgg ctgagatcac aaagcagctg ccccctgtgg tgcctgtcag 5701 caagcccggt gcacttcgtc gctccctgtc ccgctccatg tcccaggaag cacagagagg 5761 ctgagaggga ctgtgacttg ggctccgctg tgcccgccct gggctgggcc cttcctggct 5821 aggactgtgg aggggagctg ctggccatgg ctgctttgta gtttgcccag agttgggggc 5881 taggggaggg gggagccaga ggccaggatg cctgagcccc ctgagttccc aaagggaggg 5941 tggcagagac agtgggcact aagggtggag agttgggggc cagcacagct gaggaccctc 6001 agccccagga gaagggacaa aaggtactgg tgagggcaag aggtgcctgg gaggagtggc 6061 cctgatccag gaaaatgtga ggggaatctg gaacgctcta ggcagaagaa gctgggaggg 6121 agggggaggt gaaaagggca gaggcaagga tggtggggcc cccagcaccc tctgttagtg 6181 ccgcaataaa tgctcaatca tgtgccagag ttgcatctct ttccttgtgg ttgggggggc 6241 tggcccatgg gtgtcccctc aatgcccact tctgggacca ggctccgcat ctgagctaaa 6301 tatggcagag ctaatgggta caccccatac ttggggtggg ggtgggggca ggacagagct 6361 gtaaacaggg tgctgtctcc agtctccttc ccgtaccctg accgctgccc agtcctggct 6421 tctgtgtcca gccccctggc actgggtggt aaccagcaag ccagctggca tccgcatcca 6481 gggtttgttt caatgatgtc tcgtggagaa tatggagggg ctggtgccag gactgtcctt 6541 ggctttgcct cggggtgtga acggggtcag tgacctctaa aactaacctg cctctcagtt 6601 ctgaatccag acagaatcaa tcctcagctg tgtctcgctc cacaccccct gccctggaag 6661 ccagggaagg ttggaggtgc tagggggtca ggctcccctc tgtgacccct gcagctgttg 6721 tggtgactca tgtcccaacc tagctgcctc tcccaaggag actttcccct ggggacaagg 6781 gggagggaat ggcatggagg aggcccacat caagcggggc caggaaccca cggtggcagg 6841 agctgggctg gtgacctacc cagggcagaa gggcccggga ctcatccaga ggggaaggaa 6901 ggggtcttca ggaagaccac ggagatgcca caggcagaat tggcttccca tctgggagat 6961 aggtggggag accctggcat tttgacagcc agaacctggg gtgctgagca gaatcttcat 7021 gcctggcctg gccgctcctt cggagggaag ctggagggtg ggctgcgaga ggagtggggt 7081 cagagcccct acatccgcag gaccccaaat cggctgggcc ccaaggcccg gactgcgctc 7141 cccggtggcc ccggcggccc tccgcgaatg cgtcctgccc ctcccctgcc caagccctct 7201 gccctcaccc gggtccggcg ccgcccccga agtggcggga acaacccgaa cccgaacctt 7261 ctgtcctcgg gagcccccag ataagcggct gggaacccgc ggggcccgca ggggaggccc 7321 ggctgttccg cccgctaagt gcattagcac agctcacctc ccctatcgcg cctgccatcg 7381 gacgggcagt gccgcgccct gctctggggc ccccggagcg accacagcgg aggccggaac 7441 ggactgtcct ttctggggcg gggtggggag ggggtgtcgc tggagggccc ggtggcatag 7501 caacggacga gagaggcctg gaggaggggc ggggaggggg agttgtgtgg cagttctaag 7561 ggaagggtgg gtgctgggac gggtgtccgg gagggagggg agcctggcgg ggtctggggc 7621 ctcgtcgcgg agggcgctgc gagggggaaa ctggggaaag ggcctaattc cccagtctcc 7681 acctcgaatc aggaaagaga aggggcgggc tgctgggcaa aagaggtgaa tggctgcggg 7741 gggctggaga agagagatgg gaggggccgg ccggcggggg tgagggggtc taaagattgt 7801 gggggtgagg aactgagggt ggggggcgcc cagaggcggg actcggggcg gggcaggcga 7861 ggcggagggc gagggctgcg ggagcaagta cggagccggg ggtgtggggg acgattgccg 7921 ctgcagccgc cgccccactc acctccggtg tgtctgcagc ccggacacta agggagatgg 7981 atgaatgggt ggggaggatg cggcgcacat ggccccgggc ggctcggcgg tcagctgccg 8041 cccccacagc ggaccggtcg gggcgggggt cgggcggtag aaaaaagggc cgcgaggcga 8101 gcggggcact gggcggaccg cggcggcagc atgagcggcg cagaccgtag ccccaatgcg 8161 ggcgcagccc ctgactcggc cccgggccag gcggcggtgg cttcggcct //