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SCYL1 SCY1 like pseudokinase 1 [ Homo sapiens (human) ]

Gene ID: 57410, updated on 3-May-2020

Summary

Official Symbol
SCYL1provided by HGNC
Official Full Name
SCY1 like pseudokinase 1provided by HGNC
Primary source
HGNC:HGNC:14372
See related
Ensembl:ENSG00000142186 MIM:607982
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GKLP; NKTL; NTKL; P105; TAPK; TEIF; TRAP; HT019; SCAR21
Summary
This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 23.2), ovary (RPKM 22.4) and 25 other tissues See more
Orthologs

Genomic context

See SCYL1 in Genome Data Viewer
Location:
11q13.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65525081..65538710)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65292537..65306182)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene metastasis associated lung adenocarcinoma transcript 1 Neighboring gene TALAM1 transcript, MALAT1 antisense RNA Neighboring gene MALAT1-associated small cytoplasmic RNA Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 19 Neighboring gene latent transforming growth factor beta binding protein 3 Neighboring gene ZNRD2 antisense RNA 1 (head to head) Neighboring gene zinc ribbon domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia, autosomal recessive 21
MedGen: C4225236 OMIM: 616719 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of optic disc parameters.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC78454

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
protein tyrosine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular protein localization IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
retrograde vesicle-mediated transport, Golgi to ER IDA
Inferred from Direct Assay
more info
PubMed 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPI vesicle coat IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
N-terminal kinase-like protein
Names
SCY1-like protein 1
SCY1-like, kinase-like 1
coated vesicle-associated kinase of 90 kDa
likely ortholog of mouse N-terminal kinase-like protein
telomerase regulation-associated protein
telomerase transcriptional elements-interacting factor
teratoma-associated tyrosine kinase

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047172.1 RefSeqGene

    Range
    5019..18640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001048218.2NP_001041683.1  N-terminal kinase-like protein isoform B

    See identical proteins and their annotated locations for NP_001041683.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B), also known as 1, uses an alternate in-frame splice site in the 3' coding region, compared to variant A. It encodes isoform B, which is shorter than isoform A.
    Source sequence(s)
    AB051428, BP281963, BU728709
    Consensus CDS
    CCDS44646.1
    UniProtKB/Swiss-Prot
    Q96KG9
    Related
    ENSP00000408192.2, ENST00000420247.6
    Conserved Domains (2) summary
    cd14011
    Location:20296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351372
    HEAT; HEAT repeat [structural motif]
  2. NM_020680.4NP_065731.3  N-terminal kinase-like protein isoform A

    See identical proteins and their annotated locations for NP_065731.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longer transcript and encodes the longer isoform (A).
    Source sequence(s)
    BC069233, BP281963
    Consensus CDS
    CCDS41672.1
    UniProtKB/Swiss-Prot
    Q96KG9
    Related
    ENSP00000270176.5, ENST00000270176.10
    Conserved Domains (2) summary
    cd14011
    Location:20296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351372
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65525081..65538710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448620.1XP_024304388.1  N-terminal kinase-like protein isoform X7

    Conserved Domains (2) summary
    sd00044
    Location:171193
    HEAT; HEAT repeat [structural motif]
    cl21453
    Location:1153
    PKc_like; Protein Kinases, catalytic domain
  2. XM_017018033.1XP_016873522.1  N-terminal kinase-like protein isoform X8

    Related
    ENSP00000436993.1, ENST00000527009.5
  3. XM_005274120.4XP_005274177.1  N-terminal kinase-like protein isoform X4

    See identical proteins and their annotated locations for XP_005274177.1

    UniProtKB/Swiss-Prot
    Q96KG9
    Conserved Domains (2) summary
    cd14011
    Location:20296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351372
    HEAT; HEAT repeat [structural motif]
  4. XM_005274121.4XP_005274178.1  N-terminal kinase-like protein isoform X5

    UniProtKB/TrEMBL
    E9PK59
    Related
    ENSP00000431635.1, ENST00000525364.5
    Conserved Domains (2) summary
    cd14011
    Location:20296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351372
    HEAT; HEAT repeat [structural motif]
  5. XM_024448619.1XP_024304387.1  N-terminal kinase-like protein isoform X1

    Conserved Domains (2) summary
    cd14011
    Location:20296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:314336
    HEAT; HEAT repeat [structural motif]
  6. XM_005274118.4XP_005274175.1  N-terminal kinase-like protein isoform X2

    Conserved Domains (2) summary
    cd14011
    Location:20296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351372
    HEAT; HEAT repeat [structural motif]
  7. XM_017018030.2XP_016873519.1  N-terminal kinase-like protein isoform X3

  8. XM_017018031.2XP_016873520.1  N-terminal kinase-like protein isoform X6

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