2024-04-26 23:43:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001145468 6692 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 2, mRNA. ACCESSION NM_001145468 VERSION NM_001145468.3 GI:513788258 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6692) AUTHORS Djebali,S., Lagarde,J., Kapranov,P., Lacroix,V., Borel,C., Mudge,J.M., Howald,C., Foissac,S., Ucla,C., Chrast,J., Ribeca,P., Martin,D., Murray,R.R., Yang,X., Ghamsari,L., Lin,C., Bell,I., Dumais,E., Drenkow,J., Tress,M.L., Gelpi,J.L., Orozco,M., Valencia,A., van Berkum,N.L., Lajoie,B.R., Vidal,M., Stamatoyannopoulos,J., Batut,P., Dobin,A., Harrow,J., Hubbard,T., Dekker,J., Frankish,A., Salehi-Ashtiani,K., Reymond,A., Antonarakis,S.E., Guigo,R. and Gingeras,T.R. TITLE Evidence for transcript networks composed of chimeric RNAs in human cells JOURNAL PLoS ONE 7 (1), E28213 (2012) PUBMED 22238572 REMARK GeneRIF: The authors use rapid amplification of cDNA ends, tiling arrays, and deep RNA sequencing to identify chimeric transcripts on human chromosomes 21 and 22. They found that for 492 protein coding genes studied, 85% of these genes had boundaries that extended beyond the current annotated termini. REFERENCE 2 (bases 1 to 6692) AUTHORS Saadi,I., Alkuraya,F.S., Gisselbrecht,S.S., Goessling,W., Cavallesco,R., Turbe-Doan,A., Petrin,A.L., Harris,J., Siddiqui,U., Grix,A.W. Jr., Hove,H.D., Leboulch,P., Glover,T.W., Morton,C.C., Richieri-Costa,A., Murray,J.C., Erickson,R.P. and Maas,R.L. TITLE Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting JOURNAL Am. J. Hum. Genet. 89 (1), 44-55 (2011) PUBMED 21703590 REMARK GeneRIF: SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis. REFERENCE 3 (bases 1 to 6692) AUTHORS Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H., Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T. and Old,L.J. TITLE Antigens recognized by autologous antibody in patients with renal-cell carcinoma JOURNAL Int. J. Cancer 83 (4), 456-464 (1999) PUBMED 10508479 REFERENCE 4 (bases 1 to 6692) AUTHORS Dasouki,M., Barr,M. Jr., Erickson,R.P. and Cox,B. TITLE Translocation (1;22) in a child with bilateral oblique facial clefts JOURNAL J. Med. Genet. 25 (6), 427-429 (1988) PUBMED 3398011 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY105216.1, BC136471.1, BQ929263.1, BM126792.1 and AA773104.1. On Jun 20, 2013 this sequence version replaced gi:361050345. Summary: This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]. Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1). COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-130 HY105216.1 1-130 131-5796 BC136471.1 1-5666 5797-6262 BQ929263.1 248-713 6263-6673 BM126792.1 6-416 c 6674-6692 AA773104.1 1-19 c FEATURES Location/Qualifiers source 1..6692 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="22" /map="22q11.23" gene 1..6692 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /note="sperm antigen with calponin homology and coiled-coil domains 1-like" /db_xref="GeneID:23384" /db_xref="HGNC:29022" /db_xref="MIM:614140" exon 1..167 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 168..357 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" CDS 205..3558 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /note="isoform 1 is encoded by transcript variant 2; cytokinesis and spindle organization A; renal carcinoma antigen NY-REN-22; cytospin-A; SPECC1-like protein" /codon_start=1 /product="cytospin-A isoform 1" /protein_id="NP_001138940.3" /db_xref="GI:513788259" /db_xref="CCDS:CCDS33619.1" /db_xref="GeneID:23384" /db_xref="HGNC:29022" /db_xref="MIM:614140" /translation="
MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPGNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTALSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEMKRDISAQEGASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQNIDITNFSSSWNDGLAFCALLHTYLPAHIPYQELNSQDKRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET
" misc_feature 1378..>1980 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /note="Membrane-bound metallopeptidase [Cell division and chromosome partitioning]; Region: COG4942" /db_xref="CDD:227278" misc_feature <2755..3003 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /note="Tymovirus 45/70Kd protein; Region: Tymo_45kd_70kd; pfam03251" /db_xref="CDD:217453" misc_feature 2806..2808 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q69YQ0.2); phosphorylation site" misc_feature 2845..2847 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q69YQ0.2); phosphorylation site" misc_feature 3247..3549 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /note="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...; Region: CH; cd00014" /db_xref="CDD:237981" misc_feature order(3247..3255,3262..3264,3271..3273,3430..3435, 3442..3444,3451..3453,3457..3459,3508..3513,3520..3525, 3529..3534,3541..3546) /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /note="putative actin binding surface [polypeptide binding]; other site" /db_xref="CDD:237981" exon 358..511 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 512..2142 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2143..2350 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2351..2424 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2425..2600 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2601..2764 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2765..2856 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2857..2947 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 2948..3031 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 3032..3188 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 3189..3291 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 3292..3408 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 3409..3468 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" exon 3469..6675 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /inference="alignment:Splign:1.39.8" polyA_signal 4485..4490 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" polyA_site 4508 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" STS 5928..6060 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /standard_name="D22S1004E" /db_xref="UniSTS:58173" STS 6234..6354 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" /standard_name="AL031645" /db_xref="UniSTS:9800" polyA_site 6675 /gene="SPECC1L" /gene_synonym="CYTSA; OBLFC1" ORIGIN
tggccaagggcggggcccgcgagggaggccgggcggcccggcaagcggcgctgcggggtaggctgctttcctgaggccggactcaacgggtctcggctgagccaccgggtgagctcaccgcccagcccaaaccaggagattgcgagggagcgatgcggtgcagcgcgatttgcttgtaaatgcatcacgaagaggcagcccagaatgaagaaagcaagcaggagtgttggctcagtgcctaaagtgtctgcaataagtaaaacgcaaacagcagaaaaaattaaacctgaaaacagctcttcagcatctacgggaggcaaacttgtaaaacctggaacagcagcatcattgtcaaagaccaagagcagtgatgaccttttagctggaatggccggaggggtaacggtgactaatggtgttaaaggaaagaaaagcacctgcccatctgcagcaccttcagcatctgcccctgccatgaccaccgtggagaacaaatccaagattagcacaggcacagcttcttcaaccaagcggagcacttctacaggtaataaagaatccagttctactagagaaagattacgtgaacgtacccgattaaaccagagcaaaaaactaccttctgcaggtcagggagctaatgacatggcattggccaaacgttcccgcagtcgaactgctacagaatgtgacgttcgtatgagcaagtctaagtcagacaatcagatcagtgacagagctgctttggaggccaaagtgaaggatcttctcacgctggcaaaaaccaaagacgtagaaattttacatttgagaaatgaactgcgagacatgcgtgcccagctgggcattaatgaggatcattctgagggtgatgaaaaatctgagaaggaaactattatggctcaccagccgactgatgtggagtccactttattgcagttgcaggaacagaatactgccatccgtgaagaactcaaccagctgaaaaatgaaaacagaatgttaaaggacaggttgaatgcattgggcttttccctagagcagaggttagacaattctgaaaaactgtttggctatcagtccctgagcccagaaatcacccctggtaaccagagcgatggaggaggaactctgacttcttcagtggaaggctctgcccctggctcagtggaggatctcttgagtcaggatgaaaatacactaatggaccatcagcacagtaactccatggacaatttagacagtgagtgcagtgaggtctaccagcccctcacatcgagcgatgatgcgctggatgcaccatcctcctcagagtcggaaggcatccccagcatagagcgctcccggaaggggagcagcgggaatgccagtgaagtgtccgtggcttgcctgactgaacggatacaccagatggaagagaaccaacacagtacaagtgaggaactccaggcaaccctgcaagagctagctgatttacagcagattacccaggaactgaatagtgaaaacgaaaggcttggagaagagaaggttattctgatggagtctttatgtcagcagagcgataagttggaacactttagtcgacagattgaatacttccgctctcttctagatgagcatcacatttcttatgtcatagatgaagatgtaaaaagtgggcgctatatggaattagagcaacgttacatggacctcgctgagaatgcccgttttgaacgggagcagcttcttggtgtccagcagcatttaagcaatactttgaaaatggcagaacaagacaataaggaagctcaagaaatgataggggcactcaaagaacgcagtcaccatatggagcgaattattgagtctgagcagaaaggaaaagcagccttggcagccacgttagaggaatacaaagccacagtggccagtgaccagatagagatgaatcgcctgaaggctcagctggagaatgaaaagcagaaagtggcagagctgtattctatccataactctggagacaaatctgatattcaggacctcctggagagtgtcaggctggacaaagaaaaagcagagactttggctagtagcttgcaggaagatctggctcatacccgaaatgatgccaatcgattacaggatgccattgctaaggtagaggatgaataccgagccttccaagaagaagctaagaaacaaattgaagatttgaatatgacgttagaaaaattaagatcagacctggatgaaaaagaaacagaaaggagtgacatgaaagaaaccatctttgaacttgaagatgaagtagaacaacatcgtgctgtgaaacttcatgacaacctcattatttctgatctagagaatacagttaaaaaactccaggaccaaaagcacgacatggaaagagaaataaagacactccacagaagacttcgggaagaatctgcggaatggcggcagtttcaggctgatctccagactgcagtagtcattgcaaatgacattaaatctgaagcccaagaggagattggtgatctaaagcgccggttacatgaggctcaagaaaaaaatgagaaactcacaaaagaattggaggaaataaagtcacgcaagcaagaggaggagcgaggccgggtatacaattacatgaatgccgttgagagagatttggcagccttaaggcagggaatgggactgagtagaaggtcctcgacttcctcagagccaactcctacagtaaaaaccctcatcaagtcctttgacagtgcatctcaagtaccaaaccctgctgcagctgcaattcctcgaacgcccctgagcccaagtcctatgaaaacccctcctgcagcagctgtgtcccctatgcagagacattccataagtggaccaatctcaacatccaaacccctgacagccctgtcagataagagaccaaactatggggaaatccctgttcaagagcatctgttaagaacatcttcagccagccggcctgcttccctgccaagagtgcctgcgatggaaagtgccaagaccctctcagtgtctcgacgaagtagtgaagaaatgaaacgggacatttctgcacaggagggagcgtcgccagcctctctgatggctatgggaaccacgtctccacagctttccctgtcctcttctccaacggcatctgtgactcccaccacccgaagccgaataagagaagaaaggaaagaccctctctcagcattggccagagaatatggaggatcaaagaggaacgccttgctgaagtggtgtcagaagaaaacagaaggctatcagaatattgacattacaaacttcagcagcagctggaatgatgggctggccttctgtgccctcctgcatacatatctccctgcccacattccatatcaagaactgaacagccaggataagagaaggaacttcatgctggctttccaggcagctgaaagtgtcggcatcaaatccacactggacattaatgaaatggtacggactgaacgacccgactggcagaacgtgatgctgtatgtgacggcgatctacaagtactttgagacctgagcatgccgggaggagccgccccaatagcgggggtacccctccacagcgaccgagcgacaccgacgccattagctacgcacccctgtaaagcttccagcaactctgggctgccccacagcgtgtgagcctccagctcggggcttccgtattggaagaactcagccgtgtggcccacagctcccaccagggcccctcccacatgacccgtccattcaggtcatgtgggctcagcacacatcctgcaggccggtggctgctggagttttccttctgaagagaatattgaactacactagtgctccagggcaccaaacaaaaagggctcatgcacagctgaatttgggaaaagggattcagttctgtgggaaactcactagggttgatgaaggctcggccgcggcacttcctgactattggctggggtgggttccggtgctggtgagaacccagaaggagagtcagcgcctggcagttcccagcgccctgggcccttcaccgtcctagtttggaggagcatgttcaccacagacgtgggtcagctgccccacacctgacggggctgtcccggccgacacaatccaggcgtgttcagcctgagctaggagagtatctagagggcgtggtgcgggcacgccagggctggggtgctgctgctgcactcacgcggctgggctttctggcgggaagcagttacgggggccccttgcctggactcagcgacctgtcttccagcctggaaggggtttggagtcccagctctggctttagatttcttcatcataaggagtttttctagttaacatttttgttttgttacgagcaatgctggaaaaggtcgctcctgttctgttagtaccaaagttacattgtttcaataagcatagaaatctaaacaacatctgtacattagcatggtgagagcaaggaataaagcaggaaataggagaaaagtaaacaactttagggagcccaggcagtgtcatttaaactcactgagtcactaagacataattctcctaggccagagttaaagaaagtgccttaactcttcttgtgagggcagccactgccctccgtggccaaggcaggacctccaagactcagtggttgagttgtctcctaccaccatgcccgccctccccaggtactgggtccatgccccctgtgcccaccctccccaggtgctgggtccatgctgtttgaaccaaagccttatttaaaggtggtcactggagatgctctcaggccagaactcaacagctatttttgggaatagggatctcccgtgtgcctaacgcagtagctattggtttgaacaatgtccagacaagacctgtacctttgagaatataactgtgtttggcacctgcatagcaccatgaggaagaccagccaccagtggaagcggggtcactgccccacagactggatgcaatgaggggctcacaggaggcccagccagcccgattgtgggctgaggggtctgcattcaagcacgatgttctagaataggagtttaacgtgtctacgtaacctagaatgtggttattaggaaaggggctgtgcatgtgggtgcagctggcggcacacctggtcaccagatggccagaagctgcccatcagccctgcccagatgtcagcctgggagctcaggctgctgccgctggctggatgccctttggtgaaatgcctgttttcagctaagaaaggagaggccaggcaagcaaagtcatgccacaaagcatatcagagacccccgcagactcctggccccgtcccgccccctgtctgagttgtgtttttgttgctgttcctctgttgatggccagctctgctgttggcatgagccactgatgttcatgtgagaattactgtttttaagtgtctctccacttaggtgtcctcagttcccacttttgctctcatttgccttcacagaggccactccacctgtccggatccagctgtctggtcatggtttggtttatttattttgtccttcaggggctgttttgccctaagaatgagggggcttcccctggtctgcagttcccaactttatcccttgctggccatgcgagcccagccctggtgcctcatgggatgggggggtaggggtccccaggatcttctggaggaaggtggccatggatggatgggctgtatctgtgttttccctctgggagtctcatgggtccagcatcaggcctgaggtcagcaacagggaaagagggtgggcacggggagggcttggccccgcctatctagaggcttgcctcgggcccctccttggggaaggtttgcgtgcagagctgcaagggagagggttccagaagcattgccttttgcctcgtctaataggatccttaggacactgtgggctttaggaatgactatagatgctcacacgtgtttaaagtgacatttggagatgctctcagtcctgtggcatctggcacgaagtctccaagaagccactttgcctcttctcccttcaagcacaagctttactgcaaaagggccagtcgcgtttctatttctctcgatcccaggcttctgcggaccgacgatacgtttaaatgttgttctagtaaatattcttgaatgtattaaaatggctgaaacaacaagcttgggcttttctagcttgccctccactccctgccgtccctctgacgtcgcataaaccagaacccagctccctcctgggactggctgtggagagaagggcacctctgagccagcctgtggccctaccccaaggcgcacttcctcatgtgggcagatcctgaccaggagtccagggtggcctcccctgggccacagcacatcaccgtgtggcctggggctgtgggacagtgagccctgtaaccactagggttctgtgacagatgccaagaccccagagaccgtggcagagctacccccaggagagcggaagcccctacacagcccagacacatgccttccctgggggctggggagtgtgtctcgaggggttttgtttgttttgaggcatgtatcatcttggaaataattgtcaggatgtataaaatagagaaaaagaaaaaaggtatcctacccagaggcaaccagataaacttttttgcctgtgcaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:23384 -> Biological process: GO:0007026 [negative regulation of microtubule depolymerization] evidence: IEA GeneID:23384 -> Biological process: GO:0007049 [cell cycle] evidence: IEA GeneID:23384 -> Biological process: GO:0016477 [cell migration] evidence: IEA GeneID:23384 -> Biological process: GO:0030036 [actin cytoskeleton organization] evidence: IEA GeneID:23384 -> Biological process: GO:0030835 [negative regulation of actin filament depolymerization] evidence: IEA GeneID:23384 -> Biological process: GO:0051301 [cell division] evidence: IEA GeneID:23384 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA GeneID:23384 -> Cellular component: GO:0005815 [microtubule organizing center] evidence: IEA GeneID:23384 -> Cellular component: GO:0005819 [spindle] evidence: IEA GeneID:23384 -> Cellular component: GO:0005921 [gap junction] evidence: IEA GeneID:23384 -> Cellular component: GO:0031941 [filamentous actin] evidence: IEA
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