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CLVS1 clavesin 1 [ Homo sapiens (human) ]

Gene ID: 157807, updated on 17-Jun-2019

Summary

Official Symbol
CLVS1provided by HGNC
Official Full Name
clavesin 1provided by HGNC
Primary source
HGNC:HGNC:23139
See related
Ensembl:ENSG00000177182 MIM:611292
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
Also known as
CRALBPL; RLBP1L1; C6orf212L
Expression
Broad expression in fat (RPKM 24.7), adrenal (RPKM 7.1) and 18 other tissues See more
Orthologs

Genomic context

See CLVS1 in Genome Data Viewer
Location:
8q12.2-q12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (60964833..61501629)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (62200514..62414204)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene hCG1816373-like Neighboring gene nuclear autoantigenic sperm protein pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12445 Neighboring gene meiotic recombination hotspot G Neighboring gene nucleophosmin 1 pseudogene 6 Neighboring gene uncharacterized LOC105375870 Neighboring gene aspartate beta-hydroxylase Neighboring gene keratin 8 pseudogene 3 Neighboring gene RN7SK pseudogene 97

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37248, MGC34646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
clavesin-1
Names
clathrin vesicle-associated Sec14 protein 1
retinaldehyde-binding protein 1-like 1

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.

mRNA and Protein(s)

  1. NM_173519.3NP_775790.1  clavesin-1

    See identical proteins and their annotated locations for NP_775790.1

    Status: VALIDATED

    Source sequence(s)
    AC090094, AK125153, BC042617, DA217517
    Consensus CDS
    CCDS6176.1
    UniProtKB/Swiss-Prot
    Q8IUQ0
    Related
    ENSP00000325506.4, ENST00000325897.5
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain

RefSeqs of Annotated Genomes: Homo sapiens 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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    60964833..61501629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447079.1XP_024302847.1  clavesin-1 isoform X1

    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain
  2. XM_017013141.2XP_016868630.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8IUQ0
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain
  3. XM_017013142.2XP_016868631.1  clavesin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8IUQ0
    Related
    ENSP00000428402.1, ENST00000519846.5
    Conserved Domains (2) summary
    smart01100
    Location:5197
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    pfam00650
    Location:125274
    CRAL_TRIO; CRAL/TRIO domain
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