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SEZ6L seizure related 6 homolog like [ Homo sapiens (human) ]

Gene ID: 23544, updated on 22-Sep-2022

Summary

Official Symbol
SEZ6Lprovided by HGNC
Official Full Name
seizure related 6 homolog likeprovided by HGNC
Primary source
HGNC:HGNC:10763
See related
Ensembl:ENSG00000100095 MIM:607021; AllianceGenome:HGNC:10763
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to act upstream of or within adult locomotory behavior; nervous system development; and regulation of protein kinase C signaling. Predicted to be located in endoplasmic reticulum and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 35.1) and adrenal (RPKM 5.4) See more
Orthologs
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Genomic context

See SEZ6L in Genome Data Viewer
Location:
22q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26169462..26383596)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26631737..26845974)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26565428..26779562)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724801 Neighboring gene uncharacterized LOC105372971 Neighboring gene long intergenic non-protein coding RNA 2559 Neighboring gene Sharpr-MPRA regulatory region 5864 Neighboring gene SEZ6L antisense RNA 1 Neighboring gene uncharacterized LOC124905096 Neighboring gene Sharpr-MPRA regulatory region 1030 Neighboring gene RNA, 5S ribosomal pseudogene 495 Neighboring gene ribosomal protein S3A pseudogene

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

EBI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
EBI GWAS Catalog
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of protein kinase C signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synapse maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
seizure 6-like protein
Names
seizure related gene 6-like

NCBI Reference Sequences (RefSeq)

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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_054877.1 RefSeqGene

    Range
    4989..219123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184773.2NP_001171702.1  seizure 6-like protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_001171702.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter by 1 aa when it is compared to isoform 1.
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405
    Consensus CDS
    CCDS54508.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000384772.3, ENST00000404234.7
    Conserved Domains (4) summary
    cd00033
    Location:745801
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:806865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567624
    Sushi; Sushi repeat (SCR repeat)
  2. NM_001184774.2NP_001171703.1  seizure 6-like protein isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate, in-frame segment in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405, BC143851
    Consensus CDS
    CCDS54509.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000485720.1, ENST00000629590.2
    Conserved Domains (4) summary
    cd00033
    Location:745801
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:806865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567624
    Sushi; Sushi repeat (SCR repeat)
  3. NM_001184775.2NP_001171704.1  seizure 6-like protein isoform 4 precursor

    See identical proteins and their annotated locations for NP_001171704.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate, in-frame segment and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405, BC143854
    Consensus CDS
    CCDS74837.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    UniProtKB/TrEMBL
    B7ZLJ8
    Related
    ENSP00000437037.3, ENST00000529632.6
    Conserved Domains (4) summary
    cd00033
    Location:745801
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:806865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567624
    Sushi; Sushi repeat (SCR repeat)
  4. NM_001184776.2NP_001171705.1  seizure 6-like protein isoform 5 precursor

    See identical proteins and their annotated locations for NP_001171705.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate, in-frame segments in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB023144, AB041736, AL022337, AL078460, AY358405
    Consensus CDS
    CCDS54511.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000354185.3, ENST00000360929.7
    Conserved Domains (4) summary
    cd00033
    Location:745801
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:393448
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567624
    Sushi; Sushi repeat (SCR repeat)
  5. NM_001184777.2NP_001171706.1  seizure 6-like protein isoform 6 precursor

    See identical proteins and their annotated locations for NP_001171706.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks two alternate, in-frame segments in the coding region, compared to variant 1. The resulting protein (isoform 6) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AL022337, AL023513, AL078460, AY358405
    Consensus CDS
    CCDS54510.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000342661.4, ENST00000343706.8
    Conserved Domains (4) summary
    cd00033
    Location:745801
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:806865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567624
    Sushi; Sushi repeat (SCR repeat)
  6. NM_021115.5NP_066938.2  seizure 6-like protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_066938.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405
    Consensus CDS
    CCDS13833.1
    UniProtKB/Swiss-Prot
    Q9BYH1, Q9Y3J6
    Related
    ENSP00000248933.6, ENST00000248933.11
    Conserved Domains (4) summary
    cd00033
    Location:745801
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:806865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567624
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26169462..26383596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    26631737..26845974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)