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2024-04-19 06:44:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001254732 6575 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens sperm antigen with calponin homology and coiled-coil
domains 1-like (SPECC1L), transcript variant 3, mRNA.
ACCESSION NM_001254732
VERSION NM_001254732.2 GI:513788263
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 6575)
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 6575)
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 6575)
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 6575)
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, AK301482.1,
BM556934.1, BM720120.1, BC021132.1, BM126792.1 and AA773104.1.
On Jun 20, 2013 this sequence version replaced gi:361050349.
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 (3) differs in the 5' UTR and
lacks an exon in the 3' coding region, but maintains the reading
frame, compared to variant 1. The encoded isoform (2) is shorter
than isoform 1.
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-66 HY105216.1 1-66
67-3591 AK301482.1 2-3526
3592-4178 BM556934.1 92-678
4179-4419 BM720120.1 22-262
4420-6064 BC021132.1 1-1645
6065-6556 BM126792.1 6-497 c
6557-6575 AA773104.1 1-19 c
FEATURES Location/Qualifiers
source 1..6575
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.23"
gene 1..6575
/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..3441
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
/note="isoform 2 is encoded by transcript variant 3;
cytokinesis and spindle organization A; renal carcinoma
antigen NY-REN-22; cytospin-A; SPECC1-like protein"
/codon_start=1
/product="cytospin-A isoform 2"
/protein_id="NP_001241661.2"
/db_xref="GI:513788264"
/db_xref="CCDS:CCDS58797.1"
/db_xref="GeneID:23384"
/db_xref="HGNC:29022"
/db_xref="MIM:614140"
/translation="
MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPGNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTALSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEMKRDISAQEGASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET
"
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 3244..3435
/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;
cl00030"
/db_xref="CDD:241559"
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..3351
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
/inference="alignment:Splign:1.39.8"
exon 3352..6558
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
/inference="alignment:Splign:1.39.8"
polyA_signal 4368..4373
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
polyA_site 4391
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
STS 5811..5943
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
/standard_name="D22S1004E"
/db_xref="UniSTS:58173"
STS 6117..6237
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
/standard_name="AL031645"
/db_xref="UniSTS:9800"
polyA_site 6558
/gene="SPECC1L"
/gene_synonym="CYTSA; OBLFC1"
ORIGIN
tggccaagggcggggcccgcgagggaggccgggcggcccggcaagcggcgctgcggggtaggctgctttcctgaggccggactcaacgggtctcggctgagccaccgggtgagctcaccgcccagcccaaaccaggagattgcgagggagcgatgcggtgcagcgcgatttgcttgtaaatgcatcacgaagaggcagcccagaatgaagaaagcaagcaggagtgttggctcagtgcctaaagtgtctgcaataagtaaaacgcaaacagcagaaaaaattaaacctgaaaacagctcttcagcatctacgggaggcaaacttgtaaaacctggaacagcagcatcattgtcaaagaccaagagcagtgatgaccttttagctggaatggccggaggggtaacggtgactaatggtgttaaaggaaagaaaagcacctgcccatctgcagcaccttcagcatctgcccctgccatgaccaccgtggagaacaaatccaagattagcacaggcacagcttcttcaaccaagcggagcacttctacaggtaataaagaatccagttctactagagaaagattacgtgaacgtacccgattaaaccagagcaaaaaactaccttctgcaggtcagggagctaatgacatggcattggccaaacgttcccgcagtcgaactgctacagaatgtgacgttcgtatgagcaagtctaagtcagacaatcagatcagtgacagagctgctttggaggccaaagtgaaggatcttctcacgctggcaaaaaccaaagacgtagaaattttacatttgagaaatgaactgcgagacatgcgtgcccagctgggcattaatgaggatcattctgagggtgatgaaaaatctgagaaggaaactattatggctcaccagccgactgatgtggagtccactttattgcagttgcaggaacagaatactgccatccgtgaagaactcaaccagctgaaaaatgaaaacagaatgttaaaggacaggttgaatgcattgggcttttccctagagcagaggttagacaattctgaaaaactgtttggctatcagtccctgagcccagaaatcacccctggtaaccagagcgatggaggaggaactctgacttcttcagtggaaggctctgcccctggctcagtggaggatctcttgagtcaggatgaaaatacactaatggaccatcagcacagtaactccatggacaatttagacagtgagtgcagtgaggtctaccagcccctcacatcgagcgatgatgcgctggatgcaccatcctcctcagagtcggaaggcatccccagcatagagcgctcccggaaggggagcagcgggaatgccagtgaagtgtccgtggcttgcctgactgaacggatacaccagatggaagagaaccaacacagtacaagtgaggaactccaggcaaccctgcaagagctagctgatttacagcagattacccaggaactgaatagtgaaaacgaaaggcttggagaagagaaggttattctgatggagtctttatgtcagcagagcgataagttggaacactttagtcgacagattgaatacttccgctctcttctagatgagcatcacatttcttatgtcatagatgaagatgtaaaaagtgggcgctatatggaattagagcaacgttacatggacctcgctgagaatgcccgttttgaacgggagcagcttcttggtgtccagcagcatttaagcaatactttgaaaatggcagaacaagacaataaggaagctcaagaaatgataggggcactcaaagaacgcagtcaccatatggagcgaattattgagtctgagcagaaaggaaaagcagccttggcagccacgttagaggaatacaaagccacagtggccagtgaccagatagagatgaatcgcctgaaggctcagctggagaatgaaaagcagaaagtggcagagctgtattctatccataactctggagacaaatctgatattcaggacctcctggagagtgtcaggctggacaaagaaaaagcagagactttggctagtagcttgcaggaagatctggctcatacccgaaatgatgccaatcgattacaggatgccattgctaaggtagaggatgaataccgagccttccaagaagaagctaagaaacaaattgaagatttgaatatgacgttagaaaaattaagatcagacctggatgaaaaagaaacagaaaggagtgacatgaaagaaaccatctttgaacttgaagatgaagtagaacaacatcgtgctgtgaaacttcatgacaacctcattatttctgatctagagaatacagttaaaaaactccaggaccaaaagcacgacatggaaagagaaataaagacactccacagaagacttcgggaagaatctgcggaatggcggcagtttcaggctgatctccagactgcagtagtcattgcaaatgacattaaatctgaagcccaagaggagattggtgatctaaagcgccggttacatgaggctcaagaaaaaaatgagaaactcacaaaagaattggaggaaataaagtcacgcaagcaagaggaggagcgaggccgggtatacaattacatgaatgccgttgagagagatttggcagccttaaggcagggaatgggactgagtagaaggtcctcgacttcctcagagccaactcctacagtaaaaaccctcatcaagtcctttgacagtgcatctcaagtaccaaaccctgctgcagctgcaattcctcgaacgcccctgagcccaagtcctatgaaaacccctcctgcagcagctgtgtcccctatgcagagacattccataagtggaccaatctcaacatccaaacccctgacagccctgtcagataagagaccaaactatggggaaatccctgttcaagagcatctgttaagaacatcttcagccagccggcctgcttccctgccaagagtgcctgcgatggaaagtgccaagaccctctcagtgtctcgacgaagtagtgaagaaatgaaacgggacatttctgcacaggagggagcgtcgccagcctctctgatggctatgggaaccacgtctccacagctttccctgtcctcttctccaacggcatctgtgactcccaccacccgaagccgaataagagaagaaaggaaagaccctctctcagcattggccagagaatatggaggatcaaagaggaacgccttgctgaagtggtgtcagaagaaaacagaaggctatcagagaaggaacttcatgctggctttccaggcagctgaaagtgtcggcatcaaatccacactggacattaatgaaatggtacggactgaacgacccgactggcagaacgtgatgctgtatgtgacggcgatctacaagtactttgagacctgagcatgccgggaggagccgccccaatagcgggggtacccctccacagcgaccgagcgacaccgacgccattagctacgcacccctgtaaagcttccagcaactctgggctgccccacagcgtgtgagcctccagctcggggcttccgtattggaagaactcagccgtgtggcccacagctcccaccagggcccctcccacatgacccgtccattcaggtcatgtgggctcagcacacatcctgcaggccggtggctgctggagttttccttctgaagagaatattgaactacactagtgctccagggcaccaaacaaaaagggctcatgcacagctgaatttgggaaaagggattcagttctgtgggaaactcactagggttgatgaaggctcggccgcggcacttcctgactattggctggggtgggttccggtgctggtgagaacccagaaggagagtcagcgcctggcagttcccagcgccctgggcccttcaccgtcctagtttggaggagcatgttcaccacagacgtgggtcagctgccccacacctgacggggctgtcccggccgacacaatccaggcgtgttcagcctgagctaggagagtatctagagggcgtggtgcgggcacgccagggctggggtgctgctgctgcactcacgcggctgggctttctggcgggaagcagttacgggggccccttgcctggactcagcgacctgtcttccagcctggaaggggtttggagtcccagctctggctttagatttcttcatcataaggagtttttctagttaacatttttgttttgttacgagcaatgctggaaaaggtcgctcctgttctgttagtaccaaagttacattgtttcaataagcatagaaatctaaacaacatctgtacattagcatggtgagagcaaggaataaagcaggaaataggagaaaagtaaacaactttagggagcccaggcagtgtcatttaaactcactgagtcactaagacataattctcctaggccagagttaaagaaagtgccttaactcttcttgtgagggcagccactgccctccgtggccaaggcaggacctccaagactcagtggttgagttgtctcctaccaccatgcccgccctccccaggtactgggtccatgccccctgtgcccaccctccccaggtgctgggtccatgctgtttgaaccaaagccttatttaaaggtggtcactggagatgctctcaggccagaactcaacagctatttttgggaatagggatctcccgtgtgcctaacgcagtagctattggtttgaacaatgtccagacaagacctgtacctttgagaatataactgtgtttggcacctgcatagcaccatgaggaagaccagccaccagtggaagcggggtcactgccccacagactggatgcaatgaggggctcacaggaggcccagccagcccgattgtgggctgaggggtctgcattcaagcacgatgttctagaataggagtttaacgtgtctacgtaacctagaatgtggttattaggaaaggggctgtgcatgtgggtgcagctggcggcacacctggtcaccagatggccagaagctgcccatcagccctgcccagatgtcagcctgggagctcaggctgctgccgctggctggatgccctttggtgaaatgcctgttttcagctaagaaaggagaggccaggcaagcaaagtcatgccacaaagcatatcagagacccccgcagactcctggccccgtcccgccccctgtctgagttgtgtttttgttgctgttcctctgttgatggccagctctgctgttggcatgagccactgatgttcatgtgagaattactgtttttaagtgtctctccacttaggtgtcctcagttcccacttttgctctcatttgccttcacagaggccactccacctgtccggatccagctgtctggtcatggtttggtttatttattttgtccttcaggggctgttttgccctaagaatgagggggcttcccctggtctgcagttcccaactttatcccttgctggccatgcgagcccagccctggtgcctcatgggatgggggggtaggggtccccaggatcttctggaggaaggtggccatggatggatgggctgtatctgtgttttccctctgggagtctcatgggtccagcatcaggcctgaggtcagcaacagggaaagagggtgggcacggggagggcttggccccgcctatctagaggcttgcctcgggcccctccttggggaaggtttgcgtgcagagctgcaagggagagggttccagaagcattgccttttgcctcgtctaataggatccttaggacactgtgggctttaggaatgactatagatgctcacacgtgtttaaagtgacatttggagatgctctcagtcctgtggcatctggcacgaagtctccaagaagccactttgcctcttctcccttcaagcacaagctttactgcaaaagggccagtcgcgtttctatttctctcgatcccaggcttctgcggaccgacgatacgtttaaatgttgttctagtaaatattcttgaatgtattaaaatggctgaaacaacaagcttgggcttttctagcttgccctccactccctgccgtccctctgacgtcgcataaaccagaacccagctccctcctgggactggctgtggagagaagggcacctctgagccagcctgtggccctaccccaaggcgcacttcctcatgtgggcagatcctgaccaggagtccagggtggcctcccctgggccacagcacatcaccgtgtggcctggggctgtgggacagtgagccctgtaaccactagggttctgtgacagatgccaagaccccagagaccgtggcagagctacccccaggagagcggaagcccctacacagcccagacacatgccttccctgggggctggggagtgtgtctcgaggggttttgtttgttttgaggcatgtatcatcttggaaataattgtcaggatgtataaaatagagaaaaagaaaaaaggtatcctacccagaggcaaccagataaacttttttgcctgtgcaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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