Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
51340
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Crooked neck pre-mRNA splicing factor 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CRNKL1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CLF, CRN, Clf1, HCRN, MSTP021, SYF3 |
Chromosome
Chromosome number
|
20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20p11.23 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the |
UniProt ID |
Q9BZJ0
|
Protein name |
Crooked neck-like protein 1 (Crooked neck homolog) (hCrn) |
Protein function |
Involved in pre-mRNA splicing process (PubMed:11991638, PubMed:12084575, PubMed:28076346, PubMed:28502770). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:119916 |
PDB |
5MQF
,
5XJC
,
5YZG
,
5Z56
,
5Z57
,
5Z58
,
6FF4
,
6FF7
,
6ICZ
,
6ID0
,
6ID1
,
6QDV
,
6ZYM
,
7A5P
,
7ABI
,
7DVQ
,
7QTT
,
7W59
,
7W5A
,
7W5B
,
8C6J
,
8CH6
,
8I0P
,
8I0R
,
8I0S
,
8I0T
,
8I0U
,
8I0V
,
8I0W
,
8RO2
,
9FMD
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02184
|
HAT |
256 → 288 |
HAT (Half-A-TPR) repeat |
Repeat |
PF02184
|
HAT |
357 → 388 |
HAT (Half-A-TPR) repeat |
Repeat |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed (PubMed:11342225). Highly expressed in testis (PubMed:12084575). Not detected in brain and lung (PubMed:12084575). {ECO:0000269|PubMed:11342225, ECO:0000269|PubMed:12084575}. |
Sequence |
MTATVENLTFQKDTLGNAVDKNTSRLELRSYSLAGRHGSTEPLVLAWSSQFRRLTWGCAL DALHRSPCVAASQHGVTHLIRSSRTPHSTRCRKEDAQPGHHGNGAASVTAQARGQRSVLQ VPLPVPRSCLFSESFVVSVSSQSRFLASVPGTGVQRSTAADMAASTAAGKQRIPKVAKVK NKAPAEVQITAEQLLREAKERELELLPPPPQQKITDEEELNDYKLRKRKTFEDNIRKNRT VISNWIKYAQWEESLKEIQRARSIYERALDVDYRNITLWLKYAEMEMKNRQVNHARNIWD RAITTLPRVNQFWYKYTYMEEMLGNVAGARQVFERWMEWQPEEQAWHSYINFELRYKEVD RARTIYERFVLVHPDVKNWIKYARFEEKHAYFAHARKVYERAVEFFGDEHMDEHLYVAFA KFEENQKEFERVRVIYKYALDRISKQDAQELFKNYTIFEKKFGDRRGIEDIIVSKRRFQY EEEVKANPHNYDAWFDYLRLVESDAEAEAVREVYERAIANVPPIQEKRHWKRYIYLWINY ALYEELEAKDPERTRQVYQASLELIPHKKFTFAKMWILYAQFEIRQKNLSLARRALGTSI GKCPKNKLFKVYIELELQLREFDRCRKLYEKFLEFGPENCTSWIKFAELETILGDIDRAR AIYELAISQPRLDMPEVLWKSYIDFEIEQEETERTRNLYRRLLQRTQHVKVWISFAQFEL SSGKEGSLTKCRQIYEEANKTMRNCEEKEERLMLLESWRSFEEEFGTASDKERVDKLMPE KVKKRRKVQTDDGSDAGWEEYFDYIFPEDAANQPNLKLLAMAKLWKKQQQEKEDAEHHPD EDVDESES
|
|
Sequence length |
848 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Melanoma |
Cutaneous Melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 View all (64 more) |
26619011 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Carcinoma Basal Cell |
Associate
|
23774526 |
Esophageal Neoplasms |
Associate
|
40282339 |
Neoplasm Metastasis |
Associate
|
40282339 |
Neoplasms |
Associate
|
23774526, 40282339 |
|