| Type | Description |
|---|---|
| Definition | sperm antigen with calponin homology and coiled-coil domains 1 like |
| Date | Results | Publications |
|---|---|---|
| 2016-12-31 10:43:00 | SPECC1L as a novel modulator of PI3K-AKT signaling and AJ biology, required for neural tube closure and CNCC delamination. | 26787558 |
| 2016-09-03 11:30:00 | two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), are reported. | 26111080 |
| 2016-02-27 11:49:00 | SPECC1L mutations can cause syndromic forms of facial clefting including some cases of autosomal dominant Opitz G/BBB syndrome. | 25412741 |
| 2015-01-03 10:58:00 | The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis | 25357034 |
| 2013-06-12 11:12:00 | 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. | 22238572 |
| Type | IDs |
|---|---|
| Synonymous | CYTSA, GBBB2, OBLFC1, TBHS |
| Gene |
UniProtKB-ID:
CYTSA_HUMAN,
B2RMV2_HUMAN
UniprotKB:
Q69YQ0,
B2RMV2
UniParc:
UPI00001B64E9,
UPI000206569D,
UPI0000EE58D7
EMBL:
AK301482,
AY884293,
AB002374,
AL832425,
AP000354,
BC136471,
AP000355,
CH471095
Ensembl:
ENSG00000100014
KO:
hsa:23384
|
| Nucleutide sequences |
EMBL-CDS:
BAH13494.1,
BAA21574.1,
CAH10609.1,
AAX84184.1,
AAI36472.1,
EAW59656.1,
EAW59657.1
Gene_ORFName:
hCG_1811992
Ensembl_TRS:
ENST00000541492,
ENST00000437398,
ENST00000314328
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000325785,
ENSP00000393363,
ENSP00000439633
RefSeq:
NP_056145.5,
NP_001241661.3,
NP_001241662.2,
NP_001138940.4
|
| Others |
UniRef100:
UniRef100_Q69YQ0,
UniRef100_B2RMV2
UniRef90:
UniRef90_Q69YQ0
UniRef50:
UniRef50_Q69YQ0
UniGene:
Hs.474384
CCDS:
CCDS58797.1,
CCDS33619.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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